Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00500:AI467606'

6256

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AI467606

Ensembl Gene

ENSMUSG00000045165

Gene Name

expressed sequence AI467606

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00500

Quality Score

Status

Chromosome

Chromosomal Location

126690531-126693158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126691505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 27 (V27I)

Ref Sequence

ENSEMBL: ENSMUSP00000146315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056288] [ENSMUST00000206102]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056288
AA Change: V27I

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000063016
Gene: ENSMUSG00000045165
AA Change: V27I

Domain	Start	End	E-Value	Type
Pfam:DUF4689	1	224	1.1e-118	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206102
AA Change: V27I

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	G	7: 119,383,567 (GRCm39)	E576G	probably damaging	Het
Adnp	A	G	2: 168,025,243 (GRCm39)	V684A	possibly damaging	Het
Agl	A	G	3: 116,566,469 (GRCm39)	W965R	probably damaging	Het
Ankrd34b	G	A	13: 92,575,295 (GRCm39)	G176R	probably benign	Het
Atp2a1	C	T	7: 126,046,388 (GRCm39)	W72*	probably null	Het
Atp6v1a	T	C	16: 43,931,946 (GRCm39)	Q114R	probably benign	Het
B4galt2	A	T	4: 117,734,378 (GRCm39)	L257Q	probably damaging	Het
Chrna10	A	T	7: 101,761,615 (GRCm39)	C325*	probably null	Het
Clip2	A	G	5: 134,529,011 (GRCm39)		probably benign	Het
Crocc2	C	T	1: 93,144,766 (GRCm39)	Q1437*	probably null	Het
Csmd1	C	T	8: 15,971,139 (GRCm39)	V3059M	probably damaging	Het
Cst5	C	A	2: 149,247,501 (GRCm39)	S72R	probably damaging	Het
Dapk1	A	G	13: 60,908,618 (GRCm39)	D1077G	probably damaging	Het
Dhx9	T	C	1: 153,341,494 (GRCm39)	T585A	probably damaging	Het
Fam210a	G	A	18: 68,408,854 (GRCm39)	T152I	possibly damaging	Het
Fbn1	T	A	2: 125,159,436 (GRCm39)	Q2214L	probably damaging	Het
Fpr1	T	A	17: 18,097,263 (GRCm39)	Q242L	probably benign	Het
G2e3	A	G	12: 51,400,581 (GRCm39)		probably null	Het
Gcdh	C	T	8: 85,615,146 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,319 (GRCm39)		probably benign	Het
Itgb2	T	A	10: 77,400,558 (GRCm39)	W724R	probably damaging	Het
Klhl2	T	C	8: 65,202,120 (GRCm39)	T519A	probably benign	Het
Krtap12-1	G	T	10: 77,556,814 (GRCm39)	C119F	possibly damaging	Het
Nrap	T	A	19: 56,361,341 (GRCm39)	K369N	probably damaging	Het
Nrg1	T	A	8: 32,312,342 (GRCm39)		probably null	Het
Plekhh3	T	A	11: 101,056,519 (GRCm39)		probably null	Het
Ppm1b	A	G	17: 85,310,712 (GRCm39)	S289G	probably damaging	Het
Prol1	A	T	5: 88,476,550 (GRCm39)	*313C	probably null	Het
Rab40c	T	C	17: 26,104,059 (GRCm39)	E111G	probably damaging	Het
Skint11	T	A	4: 114,051,906 (GRCm39)	C85S	probably benign	Het
Slc9a2	G	A	1: 40,802,743 (GRCm39)	E598K	possibly damaging	Het
Slfn8	T	A	11: 82,904,310 (GRCm39)	D360V	possibly damaging	Het
Sspo	C	A	6: 48,474,355 (GRCm39)	C4925*	probably null	Het
Vps8	A	G	16: 21,261,084 (GRCm39)	T75A	possibly damaging	Het
Wfdc12	A	T	2: 164,032,170 (GRCm39)	I40N	probably damaging	Het
Zfp608	T	A	18: 55,121,405 (GRCm39)	T61S	probably benign	Het

Other mutations in AI467606

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:AI467606	APN	7	126,691,874 (GRCm39)	missense	probably damaging	0.98
IGL02344:AI467606	APN	7	126,691,691 (GRCm39)	missense	probably damaging	0.97
R0401:AI467606	UTSW	7	126,691,608 (GRCm39)	missense	probably damaging	1.00
R1628:AI467606	UTSW	7	126,691,755 (GRCm39)	missense	probably benign
R2063:AI467606	UTSW	7	126,692,009 (GRCm39)	missense	probably damaging	1.00
R5520:AI467606	UTSW	7	126,691,998 (GRCm39)	missense	probably benign
R6392:AI467606	UTSW	7	126,691,717 (GRCm39)	nonsense	probably null
R7941:AI467606	UTSW	7	126,691,593 (GRCm39)	missense	probably damaging	1.00
R8984:AI467606	UTSW	7	126,691,673 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20