Mutagenetix > Incidental Mutation

Incidental Mutation 'R2968:Ighv8-12'

477776

Institutional Source

Beutler Lab

Gene Symbol

Ighv8-12

Ensembl Gene

ENSMUSG00000076731

Gene Name

immunoglobulin heavy variable V8-12

Synonyms

ENSMUSG00000062479

MMRRC Submission

040524-MU

Accession Numbers

Essential gene?

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

Stock #

R2968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115611565-115611865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115611570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 118 (R118Q)

Ref Sequence

ENSEMBL: ENSMUSP00000142333 (fasta)

Gene Model

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

AlphaFold

A0A075B5X8

Predicted Effect

probably benign
Transcript: ENSMUST00000103540

SMART Domains

Protein: ENSMUSP00000100321
Gene: ENSMUSG00000076731

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199266
AA Change: R118Q

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142333
Gene: ENSMUSG00000076731
AA Change: R118Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,911,485 (GRCm39)	I1113N	probably damaging	Het
Arhgap12	A	T	18: 6,111,732 (GRCm39)	S211T	probably damaging	Het
Celsr3	G	T	9: 108,709,390 (GRCm39)	C1412F	probably damaging	Het
Cnga3	A	G	1: 37,300,159 (GRCm39)	Y331C	probably damaging	Het
Cntln	T	A	4: 84,875,504 (GRCm39)	S313T	probably benign	Het
Ddx54	T	A	5: 120,756,694 (GRCm39)	D134E	probably damaging	Het
Dennd4c	A	G	4: 86,699,881 (GRCm39)	D244G	possibly damaging	Het
Dsg3	A	T	18: 20,658,282 (GRCm39)	T298S	possibly damaging	Het
Dusp1	A	T	17: 26,726,679 (GRCm39)	F128I	probably damaging	Het
Fam83g	T	A	11: 61,594,304 (GRCm39)	S613T	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Grep1	A	G	17: 23,934,785 (GRCm39)	F149S	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Mrgprb5	T	A	7: 47,818,317 (GRCm39)	R139S	probably damaging	Het
Or51b6	T	C	7: 103,556,519 (GRCm39)	V291A	probably benign	Het
Pcbp1	C	T	6: 86,502,471 (GRCm39)	E143K	probably damaging	Het
Plxna1	A	G	6: 89,319,590 (GRCm39)	S572P	probably damaging	Het
Serpina3n	C	T	12: 104,375,333 (GRCm39)	T135M	probably benign	Het
Spink11	A	T	18: 44,328,777 (GRCm39)	F24I	possibly damaging	Het
Tes	A	G	6: 17,096,233 (GRCm39)	T74A	probably benign	Het
Vipas39	T	C	12: 87,289,345 (GRCm39)	N373S	probably benign	Het
Wdr75	A	G	1: 45,856,501 (GRCm39)	D508G	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
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
R6905:Ighv8-12	UTSW	12	115,611,705 (GRCm39)	missense	probably benign	0.01
R9747:Ighv8-12	UTSW	12	115,611,640 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-15