Mutagenetix > Incidental Mutation

Incidental Mutation 'R2655:Ighv14-4'

476530

Institutional Source

Beutler Lab

Gene Symbol

Ighv14-4

Ensembl Gene

ENSMUSG00000076666

Gene Name

immunoglobulin heavy variable 14-4

Synonyms

Gm16841

MMRRC Submission

040430-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R2655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114140058-114140487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 114140068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 114 (Y114S)

Ref Sequence

ENSEMBL: ENSMUSP00000141226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103475] [ENSMUST00000195706]

AlphaFold

A0A075B5S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000103475
AA Change: Y110S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100256
Gene: ENSMUSG00000076666
AA Change: Y110S

Domain	Start	End	E-Value	Type
IGv	32	111	1.5e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000195706
AA Change: Y114S

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

SMART Domains

Protein: ENSMUSP00000141226
Gene: ENSMUSG00000076666
AA Change: Y114S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	1.1e-31	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	A	12: 84,122,650 (GRCm39)	S411R	probably benign	Het
Adamts12	A	T	15: 11,065,174 (GRCm39)	N20Y	possibly damaging	Het
Bbs9	G	A	9: 22,415,348 (GRCm39)	E91K	probably damaging	Het
Casp4	C	A	9: 5,322,894 (GRCm39)	L57I	possibly damaging	Het
Cat	T	C	2: 103,302,191 (GRCm39)	K169E	probably damaging	Het
Cav1	A	G	6: 17,339,359 (GRCm39)	Y148C	probably damaging	Het
Cep112	T	C	11: 108,328,027 (GRCm39)		probably benign	Het
Chaf1b	T	C	16: 93,688,399 (GRCm39)	S165P	probably damaging	Het
Crat	A	G	2: 30,292,703 (GRCm39)	S115P	probably damaging	Het
Eif2b1	A	G	5: 124,714,917 (GRCm39)	S120P	probably damaging	Het
Epor	A	G	9: 21,872,016 (GRCm39)	S236P	probably damaging	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Igfbpl1	T	C	4: 45,816,289 (GRCm39)	T179A	probably damaging	Het
Ipcef1	T	C	10: 6,929,657 (GRCm39)	I29V	probably benign	Het
Junb	A	G	8: 85,704,137 (GRCm39)	S308P	probably damaging	Het
Kcnh5	T	C	12: 75,161,314 (GRCm39)	E198G	probably damaging	Het
Ltbp1	G	A	17: 75,312,978 (GRCm39)	R33H	possibly damaging	Het
Map3k20	C	A	2: 72,263,764 (GRCm39)	T471K	probably damaging	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Odad4	T	A	11: 100,444,405 (GRCm39)	W237R	probably damaging	Het
Or51a10	T	C	7: 103,698,638 (GRCm39)	M308V	probably benign	Het
Or8g35	A	T	9: 39,381,924 (GRCm39)	S33T	probably benign	Het
Patj	T	C	4: 98,325,687 (GRCm39)	V508A	possibly damaging	Het
Pkd1	T	C	17: 24,795,464 (GRCm39)	V2319A	probably damaging	Het
Pnpla7	A	G	2: 24,942,330 (GRCm39)	Y83C	probably damaging	Het
Prb1a	G	C	6: 132,187,425 (GRCm39)	Q19E	unknown	Het
Rasa3	T	C	8: 13,645,373 (GRCm39)	T189A	possibly damaging	Het
Reck	T	A	4: 43,938,966 (GRCm39)	D777E	probably benign	Het
Rfx6	A	G	10: 51,569,873 (GRCm39)		probably benign	Het
Serpinb13	A	G	1: 106,928,157 (GRCm39)	D259G	probably damaging	Het
Slit2	G	A	5: 48,346,917 (GRCm39)	R253Q	possibly damaging	Het
Slu7	A	G	11: 43,331,475 (GRCm39)	E203G	probably benign	Het
Syt4	A	T	18: 31,576,597 (GRCm39)	D252E	probably benign	Het
Tpte	A	G	8: 22,801,294 (GRCm39)		probably null	Het
Ttll7	A	G	3: 146,653,376 (GRCm39)	Y729C	probably damaging	Het
Usp35	T	A	7: 96,961,354 (GRCm39)	T691S	probably benign	Het
Vmn1r211	A	G	13: 23,036,586 (GRCm39)	V27A	probably benign	Het
Vmn2r72	T	C	7: 85,400,477 (GRCm39)	T191A	possibly damaging	Het
Vwa5b1	C	T	4: 138,321,614 (GRCm39)	G393D	probably damaging	Het

Other mutations in Ighv14-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Ighv14-4	APN	12	114,140,252 (GRCm39)	missense	probably benign	0.00
R3809:Ighv14-4	UTSW	12	114,140,174 (GRCm39)	missense	probably damaging	1.00
R7640:Ighv14-4	UTSW	12	114,140,064 (GRCm39)	nonsense	probably null
R9326:Ighv14-4	UTSW	12	114,140,469 (GRCm39)	missense	possibly damaging	0.53
Z1176:Ighv14-4	UTSW	12	114,140,292 (GRCm39)	missense	probably damaging	1.00
Z1176:Ighv14-4	UTSW	12	114,140,287 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-11