Mutagenetix > Incidental Mutation

Incidental Mutation 'R5563:Ighv3-1'

436714

Institutional Source

Beutler Lab

Gene Symbol

Ighv3-1

Ensembl Gene

ENSMUSG00000093838

Gene Name

immunoglobulin heavy variable 3-1

Synonyms

Gm16610

MMRRC Submission

043120-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R5563 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113928010-113928303 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113928206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 51 (Y51F)

Ref Sequence

ENSEMBL: ENSMUSP00000100259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103478]

AlphaFold

A0A075B5S6

Predicted Effect

probably benign
Transcript: ENSMUST00000103478
AA Change: Y51F

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100259
Gene: ENSMUSG00000093838
AA Change: Y51F

Domain	Start	End	E-Value	Type
IGv	35	116	9.51e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192729

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,960,040 (GRCm39)	R104H	possibly damaging	Het
Actn3	T	C	19: 4,922,344 (GRCm39)	H101R	probably damaging	Het
Akp3	T	C	1: 87,053,646 (GRCm39)	S174P	probably damaging	Het
Aldh5a1	C	A	13: 25,102,609 (GRCm39)	A285S	possibly damaging	Het
Atp7b	G	A	8: 22,518,730 (GRCm39)	P36L	possibly damaging	Het
Cdh20	C	T	1: 104,875,082 (GRCm39)	P288L	probably benign	Het
Fktn	T	A	4: 53,761,327 (GRCm39)	N481K	probably damaging	Het
Fmo5	C	A	3: 97,546,207 (GRCm39)	H173Q	probably damaging	Het
Fnip1	A	G	11: 54,395,688 (GRCm39)	R1021G	probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Grin2a	A	G	16: 9,525,581 (GRCm39)	F337L	probably benign	Het
Jcad	A	G	18: 4,673,944 (GRCm39)	K569E	possibly damaging	Het
Mars1	T	C	10: 127,144,530 (GRCm39)	Q170R	probably benign	Het
Mfsd4b2	C	T	10: 39,798,038 (GRCm39)	E106K	probably benign	Het
Mical2	A	G	7: 111,914,185 (GRCm39)	D285G	probably damaging	Het
Mpp4	A	G	1: 59,163,788 (GRCm39)		probably null	Het
Npat	A	G	9: 53,474,427 (GRCm39)	I740V	probably damaging	Het
Parp6	G	A	9: 59,535,956 (GRCm39)		probably null	Het
Plin2	T	C	4: 86,580,341 (GRCm39)	K140R	probably benign	Het
Prdm2	T	C	4: 142,861,200 (GRCm39)	T697A	probably benign	Het
Prkaa1	A	G	15: 5,199,437 (GRCm39)	E179G	probably damaging	Het
Prtg	G	A	9: 72,764,180 (GRCm39)	R551H	probably damaging	Het
Psd4	A	G	2: 24,284,897 (GRCm39)	R254G	probably benign	Het
Rhpn2	T	A	7: 35,070,652 (GRCm39)	L194H	probably damaging	Het
Sp7	T	C	15: 102,267,755 (GRCm39)	D17G	possibly damaging	Het
Topbp1	T	C	9: 103,188,712 (GRCm39)	V128A	possibly damaging	Het
Uba5	G	T	9: 103,926,446 (GRCm39)	T372K	probably benign	Het
Vmn2r13	T	A	5: 109,321,846 (GRCm39)	I284L	probably benign	Het
Vmn2r68	T	C	7: 84,871,283 (GRCm39)	T667A	probably damaging	Het

Other mutations in Ighv3-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4458001:Ighv3-1	UTSW	12	113,928,224 (GRCm39)	missense	probably benign	0.03
R4077:Ighv3-1	UTSW	12	113,928,107 (GRCm39)	missense	probably damaging	0.97
R5438:Ighv3-1	UTSW	12	113,928,089 (GRCm39)	missense	probably benign
R7748:Ighv3-1	UTSW	12	113,928,270 (GRCm39)	missense	probably damaging	0.98
R8460:Ighv3-1	UTSW	12	113,928,056 (GRCm39)	nonsense	probably null
R9117:Ighv3-1	UTSW	12	113,928,089 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCACACTGTGTCTCTTGCACAG -3'
(R):5'- ACAGCCTTTCCTGGTGAGTG -3'

Sequencing Primer
(F):5'- CACAGTAATATGTGGCTGTGTCCTC -3'
(R):5'- CCTGGTGAGTGTTGACATTTCATAC -3'

Posted On

2016-10-24