Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02020:Ighv1-7'

183921

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-7

Ensembl Gene

ENSMUSG00000095200

Gene Name

immunoglobulin heavy variable V1-7

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

IGL02020

Quality Score

Status

Chromosome

Chromosomal Location

114502115-114502408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114502345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 41 (C41R)

Ref Sequence

ENSEMBL: ENSMUSP00000100277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103496]

AlphaFold

A0A075B5T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000103496
AA Change: C41R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100277
Gene: ENSMUSG00000095200
AA Change: C41R

Domain	Start	End	E-Value	Type
IGv	36	117	6.22e-32	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 84,659,577 (GRCm39)	Q711L	probably benign	Het
Atg9b	A	C	5: 24,596,056 (GRCm39)	N205K	possibly damaging	Het
Brinp3	T	C	1: 146,777,865 (GRCm39)		probably benign	Het
Cdh20	A	G	1: 110,066,078 (GRCm39)	Y784C	probably damaging	Het
Csmd2	T	A	4: 128,453,672 (GRCm39)	D142E	probably damaging	Het
Dscam	A	G	16: 96,517,269 (GRCm39)	L880P	probably damaging	Het
Gm14496	A	G	2: 181,637,882 (GRCm39)	T319A	possibly damaging	Het
Hr	A	G	14: 70,793,877 (GRCm39)	T46A	probably benign	Het
Itga3	C	T	11: 94,948,216 (GRCm39)	V539I	probably benign	Het
Kif13a	T	A	13: 46,947,495 (GRCm39)	I830F	probably benign	Het
Mphosph9	T	C	5: 124,397,013 (GRCm39)	N1110S	probably damaging	Het
Or5m11b	A	G	2: 85,805,579 (GRCm39)		probably benign	Het
Pdia3	G	A	2: 121,266,900 (GRCm39)		probably null	Het
Phpt1	T	C	2: 25,464,221 (GRCm39)	I87M	probably damaging	Het
Psd3	T	C	8: 68,426,822 (GRCm39)		probably benign	Het
Ranbp2	A	G	10: 58,315,769 (GRCm39)	E2163G	probably damaging	Het
Ranbp6	T	C	19: 29,787,176 (GRCm39)	I1059V	probably benign	Het
Runx2	C	T	17: 44,969,486 (GRCm39)	G253D	probably damaging	Het
S100a5	A	G	3: 90,517,121 (GRCm39)		probably benign	Het
Skint1	T	A	4: 111,882,724 (GRCm39)	M256K	probably benign	Het
Slc9a3	C	T	13: 74,306,967 (GRCm39)	A364V	probably damaging	Het
Srsf3-ps	C	A	11: 98,516,335 (GRCm39)	V13L	probably damaging	Het
Trip11	C	T	12: 101,850,572 (GRCm39)	R879Q	probably damaging	Het
Tubgcp3	T	C	8: 12,687,780 (GRCm39)	T588A	possibly damaging	Het
Vmn2r100	T	A	17: 19,725,200 (GRCm39)	V43E	possibly damaging	Het
Washc4	T	C	10: 83,400,336 (GRCm39)	S421P	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wwp2	G	A	8: 108,283,127 (GRCm39)	R354Q	probably damaging	Het
Zfp804b	T	A	5: 6,819,118 (GRCm39)	Q1315L	probably damaging	Het

Other mutations in Ighv1-7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Ighv1-7	APN	12	114,502,381 (GRCm39)	nonsense	probably null
R3862:Ighv1-7	UTSW	12	114,502,266 (GRCm39)	missense	probably damaging	1.00
R3863:Ighv1-7	UTSW	12	114,502,266 (GRCm39)	missense	probably damaging	1.00
R3864:Ighv1-7	UTSW	12	114,502,266 (GRCm39)	missense	probably damaging	1.00
R5632:Ighv1-7	UTSW	12	114,502,501 (GRCm39)	critical splice donor site	probably benign
R5976:Ighv1-7	UTSW	12	114,502,379 (GRCm39)	missense	probably benign	0.35
R8040:Ighv1-7	UTSW	12	114,502,390 (GRCm39)	missense	probably benign	0.24
R8907:Ighv1-7	UTSW	12	114,502,353 (GRCm39)	missense	probably damaging	1.00
R9442:Ighv1-7	UTSW	12	114,502,198 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07