Mutagenetix > Incidental Mutation

Incidental Mutation 'R6905:Ighv8-12'

538748

Institutional Source

Beutler Lab

Gene Symbol

Ighv8-12

Ensembl Gene

ENSMUSG00000076731

Gene Name

immunoglobulin heavy variable V8-12

Synonyms

ENSMUSG00000062479

MMRRC Submission

044997-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R6905 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115611565-115611865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115611705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 73 (Y73C)

Ref Sequence

ENSEMBL: ENSMUSP00000142333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103540] [ENSMUST00000199266]

AlphaFold

A0A075B5X8

Predicted Effect

probably benign
Transcript: ENSMUST00000103540
AA Change: Y64C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100321
Gene: ENSMUSG00000076731
AA Change: Y64C

Domain	Start	End	E-Value	Type
IGv	27	105	1.13e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199266
AA Change: Y73C

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000142333
Gene: ENSMUSG00000076731
AA Change: Y73C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	118	5.9e-32	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	G	T	1: 151,856,189 (GRCm39)	N59K	probably damaging	Het
Abi3bp	A	G	16: 56,394,880 (GRCm39)	D196G	probably damaging	Het
Ankrd44	A	G	1: 54,831,653 (GRCm39)	F50S	probably damaging	Het
Arid4a	C	T	12: 71,108,318 (GRCm39)	A41V	probably benign	Het
Cdk11b	A	T	4: 155,726,065 (GRCm39)		probably benign	Het
Chrm5	C	A	2: 112,309,901 (GRCm39)	C405F	probably benign	Het
Cimip2a	A	G	2: 25,110,491 (GRCm39)	I100V	probably benign	Het
Col6a4	A	T	9: 105,937,517 (GRCm39)		probably null	Het
Copb1	A	C	7: 113,853,125 (GRCm39)	I24S	probably benign	Het
Ctsh	A	T	9: 89,944,819 (GRCm39)	K83N	probably damaging	Het
Dgkd	A	G	1: 87,863,097 (GRCm39)	E48G	probably damaging	Het
Dis3l2	A	G	1: 86,972,561 (GRCm39)	T657A	probably benign	Het
Flrt1	T	A	19: 7,072,757 (GRCm39)	K597*	probably null	Het
Ifit1bl2	T	C	19: 34,596,990 (GRCm39)	S209G	possibly damaging	Het
Ifrd2	T	C	9: 107,465,089 (GRCm39)	M1T	probably null	Het
Klhl21	C	A	4: 152,094,184 (GRCm39)	A262E	probably benign	Het
L3mbtl4	A	T	17: 69,084,883 (GRCm39)	Y598F	probably benign	Het
Lad1	A	G	1: 135,755,618 (GRCm39)	K298R	probably benign	Het
Map2k2	A	G	10: 80,944,701 (GRCm39)	D71G	probably damaging	Het
Megf8	T	A	7: 25,037,357 (GRCm39)	H752Q	probably benign	Het
Mms22l	A	T	4: 24,503,107 (GRCm39)	M200L	probably benign	Het
Mup5	C	A	4: 61,751,340 (GRCm39)	D103Y	possibly damaging	Het
Nes	C	T	3: 87,885,985 (GRCm39)	P1371S	probably damaging	Het
Or4c10b	A	T	2: 89,712,052 (GRCm39)	D294V	probably benign	Het
Or4f14c	A	T	2: 111,940,703 (GRCm39)	M298K	probably damaging	Het
Or52z14	A	T	7: 103,253,574 (GRCm39)	T238S	probably benign	Het
Osbpl3	T	C	6: 50,328,862 (GRCm39)	I114V	probably damaging	Het
Pank3	T	C	11: 35,667,239 (GRCm39)	Y119H	probably benign	Het
Pcdhb15	C	T	18: 37,607,748 (GRCm39)	L327F	possibly damaging	Het
Pnpla8	T	C	12: 44,330,336 (GRCm39)	V78A	probably damaging	Het
Rbm14	A	G	19: 4,853,264 (GRCm39)		probably benign	Het
Rev3l	G	A	10: 39,693,323 (GRCm39)	V468M	probably benign	Het
Ripk1	A	G	13: 34,211,973 (GRCm39)	I428V	probably benign	Het
Rps5	T	C	7: 12,659,785 (GRCm39)	V147A	probably damaging	Het
Rps6ka2	T	A	17: 7,495,340 (GRCm39)	I9N	probably damaging	Het
Samd9l	A	T	6: 3,375,387 (GRCm39)	F625I	probably damaging	Het
Sh3bp1	A	G	15: 78,789,230 (GRCm39)	D196G	probably benign	Het
Slc66a1	A	G	4: 139,033,752 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,725,757 (GRCm39)		probably null	Het
Stap1	G	A	5: 86,238,781 (GRCm39)	E150K	possibly damaging	Het
Ticrr	T	C	7: 79,315,598 (GRCm39)	I284T	probably benign	Het
Tm4sf1	T	C	3: 57,202,330 (GRCm39)		probably benign	Het
Traf4	C	T	11: 78,051,268 (GRCm39)	R296Q	probably benign	Het
Trav7d-4	G	T	14: 53,007,770 (GRCm39)	A88S	possibly damaging	Het
Vwde	T	C	6: 13,205,926 (GRCm39)	E207G	probably damaging	Het

Other mutations in Ighv8-12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1469:Ighv8-12	UTSW	12	115,611,963 (GRCm39)	missense	probably benign
R1469:Ighv8-12	UTSW	12	115,611,963 (GRCm39)	missense	probably benign
R2968:Ighv8-12	UTSW	12	115,611,570 (GRCm39)	missense	probably benign	0.26
R2969:Ighv8-12	UTSW	12	115,611,570 (GRCm39)	missense	probably benign	0.26
R2970:Ighv8-12	UTSW	12	115,611,570 (GRCm39)	missense	probably benign	0.26
R6651:Ighv8-12	UTSW	12	115,611,644 (GRCm39)	missense	possibly damaging	0.92
R9747:Ighv8-12	UTSW	12	115,611,640 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2018-11-06