Mutagenetix > Incidental Mutation

Incidental Mutation 'R3863:Ighv1-7'

474281

Institutional Source

Beutler Lab

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 #

R3863 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114502115-114502408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114502266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 67 (I67T)

Ref Sequence

ENSEMBL: ENSMUSP00000100277 (fasta)

Gene Model

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

AlphaFold

A0A075B5T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000103496
AA Change: I67T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100277
Gene: ENSMUSG00000095200
AA Change: I67T

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	A	T	19: 40,539,758 (GRCm39)	I739N	probably damaging	Het
Arfgef1	CAGAG	CAG	1: 10,212,811 (GRCm39)		probably null	Het
Ccdc85a	T	A	11: 28,527,335 (GRCm39)		probably null	Het
D430041D05Rik	T	C	2: 104,044,522 (GRCm39)	I825M	possibly damaging	Het
Evi2	T	A	11: 79,406,472 (GRCm39)	I368F	probably benign	Het
Greb1	G	A	12: 16,752,421 (GRCm39)	R974W	probably damaging	Het
Kcnd2	C	G	6: 21,217,262 (GRCm39)	S322*	probably null	Het
Lats1	T	C	10: 7,581,510 (GRCm39)	V765A	probably damaging	Het
Lrrd1	G	A	5: 3,901,248 (GRCm39)	V518I	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Marchf11	C	T	15: 26,387,952 (GRCm39)	A269V	probably damaging	Het
Mep1b	A	G	18: 21,217,226 (GRCm39)	N115S	possibly damaging	Het
N4bp1	T	C	8: 87,587,055 (GRCm39)	T628A	probably benign	Het
Nuak1	C	T	10: 84,213,951 (GRCm39)		probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Parp8	A	G	13: 117,031,303 (GRCm39)	S470P	probably benign	Het
Pcdhb3	A	G	18: 37,436,329 (GRCm39)	E765G	probably damaging	Het
Rbm26	G	T	14: 105,358,504 (GRCm39)	Q912K	probably damaging	Het
Sgcz	T	C	8: 37,990,565 (GRCm39)	I263V	probably benign	Het
Slc15a1	C	T	14: 121,722,269 (GRCm39)	V211I	probably benign	Het
Slc4a4	T	C	5: 89,283,507 (GRCm39)	F442S	possibly damaging	Het
Sorcs2	G	T	5: 36,555,007 (GRCm39)	S128*	probably null	Het
Vmn1r173	T	A	7: 23,401,977 (GRCm39)	F71I	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
IGL02020:Ighv1-7	APN	12	114,502,345 (GRCm39)	missense	probably damaging	1.00
R3862: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

Predicted Primers

Posted On

2017-04-14