Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02946:BC031181'

364763

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC031181

Ensembl Gene

ENSMUSG00000036299

Gene Name

cDNA sequence BC031181

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

IGL02946

Quality Score

Status

Chromosome

Chromosomal Location

75138910-75143006 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

C to T at 75141736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040284]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040284

SMART Domains

Protein: ENSMUSP00000040450
Gene: ENSMUSG00000036299

Domain	Start	End	E-Value	Type
Pfam:DUF4512	2	72	1.3e-16	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,919,041 (GRCm39)		probably benign	Het
Actr3b	T	C	5: 26,053,481 (GRCm39)	I270T	possibly damaging	Het
Adgrf2	T	C	17: 43,021,384 (GRCm39)	Y480C	probably damaging	Het
Arhgap27	T	C	11: 103,229,174 (GRCm39)	T514A	probably damaging	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Ccm2	G	A	11: 6,546,195 (GRCm39)	R335H	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Crabp1	T	C	9: 54,672,232 (GRCm39)	F16S	possibly damaging	Het
Crmp1	C	T	5: 37,441,424 (GRCm39)	A502V	probably damaging	Het
Ehhadh	A	T	16: 21,581,672 (GRCm39)	V440D	probably damaging	Het
Galnt3	T	A	2: 65,925,562 (GRCm39)	I392L	probably damaging	Het
Gm12689	T	A	4: 99,184,490 (GRCm39)	N114K	unknown	Het
Hspa2	A	G	12: 76,451,947 (GRCm39)	T214A	probably damaging	Het
Itga7	T	C	10: 128,769,952 (GRCm39)	I32T	probably benign	Het
Itgal	A	G	7: 126,913,540 (GRCm39)	S682G	probably damaging	Het
Kctd1	C	T	18: 15,107,036 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,202,571 (GRCm39)	D439V	probably damaging	Het
Mdn1	A	G	4: 32,734,366 (GRCm39)	K3258E	probably damaging	Het
Mgat4c	T	C	10: 102,225,114 (GRCm39)	S443P	probably benign	Het
Mylk	G	A	16: 34,742,158 (GRCm39)	G890E	probably benign	Het
Mylk2	T	A	2: 152,761,130 (GRCm39)	L446*	probably null	Het
Niban1	A	T	1: 151,525,176 (GRCm39)	I194F	probably damaging	Het
Or2t26	T	G	11: 49,039,719 (GRCm39)	F212V	probably damaging	Het
Pi4k2b	T	C	5: 52,910,549 (GRCm39)	F278L	probably damaging	Het
Pitpnm3	A	G	11: 71,983,378 (GRCm39)	S84P	probably benign	Het
Plxna2	T	C	1: 194,431,617 (GRCm39)		probably benign	Het
Prr5l	C	A	2: 101,602,529 (GRCm39)		probably null	Het
Ptprs	T	C	17: 56,731,032 (GRCm39)	T719A	probably benign	Het
Rasa3	T	C	8: 13,648,280 (GRCm39)	H128R	probably benign	Het
Rhox13	A	G	X: 37,218,652 (GRCm39)	K205E	probably damaging	Het
Rif1	C	A	2: 52,000,137 (GRCm39)	S1197*	probably null	Het
Sgta	A	G	10: 80,885,612 (GRCm39)		probably benign	Het
Slc25a5	T	A	X: 36,061,506 (GRCm39)	M239K	probably damaging	Het
Stil	T	A	4: 114,887,110 (GRCm39)	H734Q	probably benign	Het
Stk32b	T	C	5: 37,688,883 (GRCm39)		probably benign	Het
Ubr4	T	G	4: 139,152,606 (GRCm39)	F1999C	probably damaging	Het
Wfdc2	A	C	2: 164,406,009 (GRCm39)	T86P	probably benign	Het
Zfp407	T	C	18: 84,578,834 (GRCm39)	S760G	probably damaging	Het
Zfp668	A	T	7: 127,465,690 (GRCm39)	L498Q	possibly damaging	Het

Other mutations in BC031181

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1512:BC031181	UTSW	18	75,141,767 (GRCm39)	missense	probably damaging	1.00
R7655:BC031181	UTSW	18	75,142,406 (GRCm39)	nonsense	probably null
R7656:BC031181	UTSW	18	75,142,406 (GRCm39)	nonsense	probably null

Posted On

2015-12-18