Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01753:Ighv2-9-1'

153151

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv2-9-1

Ensembl Gene

ENSMUSG00000095565

Gene Name

immunoglobulin heavy variable 2-9-1

Synonyms

Gm16595

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

IGL01753

Quality Score

Status

Chromosome

Chromosomal Location

113733477-113733762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113733548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 91 (D91G)

Ref Sequence

ENSEMBL: ENSMUSP00000136606 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180013]

AlphaFold

A0A075B697

Predicted Effect

probably damaging
Transcript: ENSMUST00000180013
AA Change: D91G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136606
Gene: ENSMUSG00000095565
AA Change: D91G

Domain	Start	End	E-Value	Type
IGv	36	116	2.17e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192243

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193757

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	G	16: 85,599,112 (GRCm39)	F163L	probably benign	Het
Ap2b1	A	G	11: 83,212,799 (GRCm39)	T60A	probably damaging	Het
Casp3	A	G	8: 47,082,776 (GRCm39)		probably benign	Het
Ces1d	T	C	8: 93,919,438 (GRCm39)	Y118C	probably damaging	Het
Chuk	T	C	19: 44,087,015 (GRCm39)		probably benign	Het
Clec4b2	A	T	6: 123,179,169 (GRCm39)	Y157F	possibly damaging	Het
Crppa	C	T	12: 36,523,176 (GRCm39)	L202F	probably damaging	Het
Dlg4	T	A	11: 69,932,173 (GRCm39)	F480I	probably damaging	Het
Dock8	T	A	19: 25,038,656 (GRCm39)		probably benign	Het
Dsg1b	T	C	18: 20,530,906 (GRCm39)		probably benign	Het
Dstyk	T	C	1: 132,390,677 (GRCm39)	Y830H	probably damaging	Het
Hook2	T	C	8: 85,719,865 (GRCm39)		probably null	Het
Igkv12-41	T	C	6: 69,835,510 (GRCm39)	R81G	probably damaging	Het
Jmjd1c	T	A	10: 67,067,794 (GRCm39)	S1766T	probably damaging	Het
Mdn1	G	A	4: 32,708,483 (GRCm39)	V1670I	probably benign	Het
Naa15	T	C	3: 51,350,274 (GRCm39)	F124L	probably damaging	Het
Nek2	C	T	1: 191,557,598 (GRCm39)	Q187*	probably null	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Pif1	G	A	9: 65,500,590 (GRCm39)	G505D	probably damaging	Het
Plxna4	T	A	6: 32,287,413 (GRCm39)	I495F	probably benign	Het
Ppp1r21	T	C	17: 88,869,530 (GRCm39)		probably benign	Het
Prex1	T	C	2: 166,444,802 (GRCm39)	I282V	probably benign	Het
Pzp	A	T	6: 128,479,146 (GRCm39)	I669N	possibly damaging	Het
Sipa1l2	T	A	8: 126,180,031 (GRCm39)		probably benign	Het
Top2a	T	A	11: 98,898,100 (GRCm39)	T689S	probably damaging	Het
Trerf1	T	A	17: 47,626,362 (GRCm39)		noncoding transcript	Het
Uso1	T	C	5: 92,300,777 (GRCm39)		probably null	Het
Vmn2r-ps158	T	A	7: 42,674,139 (GRCm39)	V399E	probably damaging	Het
Zcchc7	A	G	4: 44,929,217 (GRCm39)	I390V	probably benign	Het
Zfp90	C	T	8: 107,150,782 (GRCm39)	T165I	probably benign	Het

Other mutations in Ighv2-9-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02416:Ighv2-9-1	APN	12	113,733,731 (GRCm39)	missense	probably damaging	1.00
IGL03282:Ighv2-9-1	APN	12	113,733,485 (GRCm39)	missense	probably damaging	1.00
IGL03334:Ighv2-9-1	APN	12	113,733,543 (GRCm39)	missense	probably benign	0.04
R6932:Ighv2-9-1	UTSW	12	113,733,692 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-02-04