High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5

BMC Genomic Data

Table 1 Positional Cloning of Mutations Summary

Allele	Gene	Mutation	Genetic Interval	Gene Function	Refs
L5Jcs1	Tapt1 **	see ref	see ref	Mutations causes homeotic-like skeletal transformations and perinatal lethality.	[11]
*L5Jcs4 L5Jcs36*	Paxip1 **	see ref	see ref	Vasculogenesis; DNA repair; epigenetic regulation	[10, 36]
L5Jcs5	Tbc1d14	missense in TBC1 domain	M4-J57 (1.6 Mb)	TBC1 domain family; putative RAB GTPase activation protein.
*L5Jcs7 L5Jcs14*	Nop14	SA site, exon 3 nonsense, exon 3	J36-M268 600 kb	Nucleolar protein homolog; ribosome biosynthesis.
L5Jcs11	Tyms	T > A (ASN > LYS)	J63-M176 (1.1 Mb)	Thymidylate synthase
L5Jcs37	Rest *	C893G (P > R)		RE1-silencing transcription factor	[37]
Dumbo	Hmx1**	see ref	see ref	Homeobox-containing gene	[38]
*L5Jcs24 L5Jcs27*	Cad	See ref	M251-M334 M387-M353	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase.	in prep^
L5Jcs31	Haus3	missense LEU > PRO in exon 4.	M388-J88 (1.8 Mb)	Subunit of augmin (HAUS) complex that regulates centrosome and spindle integrity.
L5Jcs32	Fbxl5	missense MET > LYS	M105-J614	Part of E3 ubiquitin ligase complex that regulates iron homeostasis.	[22, 23]
L5Jcs8	Ugdh *	nonsense	D5Ncnp1-J24 (1.3Mb)	UDP-glucose dehyrogenase; GAG biosynthesis; gastrulation.	[39]
Ste5Jcs1	Nsun7 **	see ref	see ref	Required for normal sperm motility and male fertility.	[40]
Deaf5Jcs1	Otof **	see ref	see ref	Otoferlin; inner hair cell neurotransmission	[41]

*Separate alleles reported by others. ** Positional cloning of this allele previously reported. M = D5Mit; J = D5Jcs. Bolded alleles highlight that two alleles were identified. ^Ching & Schimenti et al will report on these alleles elsewhere. Alleles beginning with "L" are embryonic lethals; timing of lethality was reported previously [9].

ISSN: 2730-6844