Mutagenetix > Incidental Mutation

Incidental Mutation 'R2969:Ighv8-12'

477526

Institutional Source

Beutler Lab

Gene Symbol

Ighv8-12

Ensembl Gene

ENSMUSG00000076731

Gene Name

immunoglobulin heavy variable V8-12

Synonyms

ENSMUSG00000062479

Accession Numbers

Essential gene?

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

Stock #

R2969 (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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,830,225 (GRCm39)	T137A	probably damaging	Het
Antxr2	A	T	5: 98,178,275 (GRCm39)	L45*	probably null	Het
Armc1	T	C	3: 19,189,024 (GRCm39)	S214G	probably benign	Het
Arsj	T	C	3: 126,233,021 (GRCm39)	I589T	probably benign	Het
C8a	A	G	4: 104,710,974 (GRCm39)	S230P	probably damaging	Het
Cnga3	A	G	1: 37,300,159 (GRCm39)	Y331C	probably damaging	Het
Gm21976	A	G	13: 98,423,790 (GRCm39)	Y33C	unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gtf2i	A	G	5: 134,280,746 (GRCm39)	V556A	probably damaging	Het
Ing4	A	G	6: 125,024,288 (GRCm39)	K131E	probably benign	Het
Mrgprb5	T	A	7: 47,818,317 (GRCm39)	R139S	probably damaging	Het
Nap1l2	A	T	X: 102,229,254 (GRCm39)	D221E	probably benign	Het
Nepn	A	T	10: 52,276,983 (GRCm39)	R179*	probably null	Het
Nrxn3	G	A	12: 89,321,241 (GRCm39)	C383Y	probably damaging	Het
Pfpl	G	T	19: 12,406,907 (GRCm39)	R386L	probably benign	Het
Rere	A	G	4: 150,654,673 (GRCm39)	K402E	unknown	Het
Serpina3n	C	T	12: 104,375,333 (GRCm39)	T135M	probably benign	Het
Slc43a1	C	T	2: 84,687,679 (GRCm39)	T395I	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Vipas39	T	C	12: 87,289,345 (GRCm39)	N373S	probably benign	Het
Vmn1r128	T	A	7: 21,084,046 (GRCm39)	V250D	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
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