Mutagenetix > Incidental Mutation

Incidental Mutation 'R9538:Ighv14-2'

719779

Institutional Source

Beutler Lab

Gene Symbol

Ighv14-2

Ensembl Gene

ENSMUSG00000095583

Gene Name

immunoglobulin heavy variable 14-2

Synonyms

Gm16683

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R9538 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113958089-113958518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 113958205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 79 (Y79D)

Ref Sequence

ENSEMBL: ENSMUSP00000100248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103467]

AlphaFold

A0A075B5R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000103467
AA Change: Y79D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100248
Gene: ENSMUSG00000095583
AA Change: Y79D

Domain	Start	End	E-Value	Type
IGv	36	117	5.95e-29	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,380,672 (GRCm39)	L312P	probably benign	Het
Ankrd31	A	G	13: 97,009,193 (GRCm39)	N1262D	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Ccnjl	A	G	11: 43,470,564 (GRCm39)	T111A	probably benign	Het
Cmtr1	T	C	17: 29,882,282 (GRCm39)		probably null	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Diaph1	T	C	18: 37,986,470 (GRCm39)	K1137E	probably damaging	Het
Dpysl4	C	A	7: 138,670,230 (GRCm39)	A116E	probably damaging	Het
E2f7	A	G	10: 110,616,628 (GRCm39)	K623E	possibly damaging	Het
Glb1l	G	T	1: 75,178,096 (GRCm39)	P358T	probably damaging	Het
Helz2	T	C	2: 180,882,014 (GRCm39)	R260G	probably damaging	Het
Nfatc3	A	G	8: 106,834,784 (GRCm39)	D710G	probably benign	Het
Or6c70	T	G	10: 129,709,762 (GRCm39)	Y288S	probably damaging	Het
Ppp2r3d	T	C	9: 124,424,007 (GRCm38)	T50A	unknown	Het
Psg18	A	T	7: 18,084,713 (GRCm39)	Y249N	probably benign	Het
Smarcc1	T	C	9: 109,961,272 (GRCm39)	Y30H	probably benign	Het
Strn	G	T	17: 78,972,219 (GRCm39)	A443E	possibly damaging	Het
Tmem119	A	G	5: 113,933,702 (GRCm39)	V33A	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,837 (GRCm39)	K150*	probably null	Het
Vmn1r212	A	G	13: 23,067,451 (GRCm39)	F294S	probably benign	Het
Vmn2r67	C	A	7: 84,801,327 (GRCm39)	W203L		Het
Zfc3h1	A	G	10: 115,221,197 (GRCm39)	D32G	unknown	Het
Zfp931	T	C	2: 177,709,605 (GRCm39)	I260M	probably benign	Het

Other mutations in Ighv14-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Ighv14-2	APN	12	113,958,379 (GRCm39)	missense	possibly damaging	0.47
IGL01685:Ighv14-2	APN	12	113,958,121 (GRCm39)	missense	probably damaging	0.99
IGL02994:Ighv14-2	APN	12	113,958,211 (GRCm39)	missense	probably benign	0.10
IGL03222:Ighv14-2	APN	12	113,958,114 (GRCm39)	missense	possibly damaging	0.94
R4537:Ighv14-2	UTSW	12	113,958,512 (GRCm39)	missense	probably benign	0.27
R6004:Ighv14-2	UTSW	12	113,958,255 (GRCm39)	missense	probably damaging	0.98
R6294:Ighv14-2	UTSW	12	113,958,218 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CATCTTAGTCTCAGGCAGCTTC -3'
(R):5'- GCCATACACTCTGTGACAGTG -3'

Sequencing Primer
(F):5'- CCTGCGGTTCTATGGTTTCTGAC -3'
(R):5'- CAATTCAGAGGTTCAGCTGC -3'

Posted On

2022-07-18