Mutagenetix > Incidental Mutation

Incidental Mutation 'R2970:Ighv8-12'

477490

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 #

R2970 (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: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	A	G	1: 38,574,103 (GRCm39)	S253P	probably damaging	Het
Arhgap12	A	T	18: 6,111,732 (GRCm39)	S211T	probably damaging	Het
Ccdc186	T	G	19: 56,795,430 (GRCm39)	N416H	probably damaging	Het
Eipr1	A	T	12: 28,897,593 (GRCm39)	I152F	probably benign	Het
Enpp7	T	C	11: 118,881,472 (GRCm39)	S206P	probably damaging	Het
Mrgprb5	T	A	7: 47,818,317 (GRCm39)	R139S	probably damaging	Het
Nipbl	C	A	15: 8,340,723 (GRCm39)	C1999F	probably damaging	Het
Or10d4c	T	C	9: 39,558,195 (GRCm39)	Y58H	probably damaging	Het
Or51b6	T	C	7: 103,556,519 (GRCm39)	V291A	probably benign	Het
Or5m11b	T	C	2: 85,806,454 (GRCm39)	I289T	possibly damaging	Het
Pcnx2	A	C	8: 126,528,275 (GRCm39)	L1315R	probably damaging	Het
Ric1	A	G	19: 29,555,118 (GRCm39)	T411A	probably benign	Het
Rnf133	T	C	6: 23,649,405 (GRCm39)	I175V	probably benign	Het
Serpina3n	C	T	12: 104,375,333 (GRCm39)	T135M	probably benign	Het
Slc10a5	C	A	3: 10,400,127 (GRCm39)	G178W	probably damaging	Het
Spam1	A	T	6: 24,796,724 (GRCm39)	N225I	probably damaging	Het
St7	A	T	6: 17,844,908 (GRCm39)	E132V	probably damaging	Het
Styxl2	C	T	1: 165,926,798 (GRCm39)	S938N	probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Trbv13-1	A	G	6: 41,093,310 (GRCm39)	K81R	possibly damaging	Het
Trp53bp2	T	C	1: 182,259,163 (GRCm39)	L72P	probably damaging	Het
Vipas39	T	C	12: 87,289,345 (GRCm39)	N373S	probably benign	Het
Vmn1r71	T	C	7: 10,482,641 (GRCm39)	T16A	possibly 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
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