Mutagenetix > Incidental Mutation

Incidental Mutation 'R4537:Ighv14-2'

333389

Institutional Source

Beutler Lab

Gene Symbol

Ighv14-2

Ensembl Gene

ENSMUSG00000095583

Gene Name

immunoglobulin heavy variable 14-2

Synonyms

Gm16683

MMRRC Submission

041774-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R4537 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113958089-113958518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113958512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 3 (C3R)

Ref Sequence

ENSEMBL: ENSMUSP00000100248 (fasta)

Gene Model

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

AlphaFold

A0A075B5R7

Predicted Effect

probably benign
Transcript: ENSMUST00000103467
AA Change: C3R

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100248
Gene: ENSMUSG00000095583
AA Change: C3R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4b	T	A	13: 14,294,746 (GRCm39)	Y9*	probably null	Het
Aspm	T	C	1: 139,402,041 (GRCm39)	I1235T	probably benign	Het
Defb30	T	C	14: 63,273,525 (GRCm39)	I29M	probably damaging	Het
Dnajc13	CT	C	9: 104,064,004 (GRCm39)		probably benign	Het
Dpy19l3	T	C	7: 35,411,326 (GRCm39)	T428A	probably benign	Het
Fam83b	T	C	9: 76,399,424 (GRCm39)	T560A	probably benign	Het
Fnip2	A	G	3: 79,373,021 (GRCm39)	V1019A	probably damaging	Het
Fus	A	G	7: 127,575,087 (GRCm39)	D268G	probably damaging	Het
Gm14412	T	A	2: 177,006,352 (GRCm39)	K514N	probably benign	Het
Gphn	T	C	12: 78,540,788 (GRCm39)	L265P	probably benign	Het
Grm3	A	G	5: 9,562,083 (GRCm39)	M589T	probably benign	Het
Hoxa1	G	T	6: 52,134,973 (GRCm39)	Q77K	probably benign	Het
Itgb2	G	A	10: 77,397,050 (GRCm39)		probably null	Het
Mrpl24	A	C	3: 87,829,719 (GRCm39)	K102Q	probably benign	Het
Ogfod2	C	T	5: 124,252,591 (GRCm39)		probably benign	Het
Olig2	A	G	16: 91,023,732 (GRCm39)	I149V	probably damaging	Het
Or10g9	T	A	9: 39,911,616 (GRCm39)	K302N	probably benign	Het
Or56a3b	T	A	7: 104,776,227 (GRCm39)	I84F	probably damaging	Het
Or7g19	T	A	9: 18,856,526 (GRCm39)	I194N	possibly damaging	Het
Oxr1	A	G	15: 41,683,915 (GRCm39)	Q515R	possibly damaging	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Slc25a12	T	A	2: 71,105,450 (GRCm39)		probably benign	Het
Slc2a3	C	A	6: 122,714,063 (GRCm39)	G157V	probably damaging	Het
Slc5a4a	C	T	10: 76,013,929 (GRCm39)	R379*	probably null	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sprr2f	A	T	3: 92,273,366 (GRCm39)	Q55L	unknown	Het
Srd5a3	G	A	5: 76,297,798 (GRCm39)		probably null	Het
Tmtc1	C	T	6: 148,164,280 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,105,278 (GRCm39)		probably benign	Het
Ulk4	G	A	9: 121,092,704 (GRCm39)	R178*	probably null	Het
Uspl1	A	G	5: 149,124,588 (GRCm39)	T2A	possibly damaging	Het
Vmn2r87	T	G	10: 130,308,054 (GRCm39)	H728P	probably benign	Het
Vmn2r93	T	A	17: 18,525,194 (GRCm39)	M284K	possibly damaging	Het
Zfp101	T	A	17: 33,601,466 (GRCm39)	M59L	possibly damaging	Het
Zfp558	T	C	9: 18,368,798 (GRCm39)	E146G	probably null	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
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
R9538:Ighv14-2	UTSW	12	113,958,205 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGCAGGACAACTTGACTGAG -3'
(R):5'- CAGCATCCTGTTGACTGACC -3'

Sequencing Primer
(F):5'- ACAACTTGACTGAGGCCCCTG -3'
(R):5'- ATCCTGTTGACTGACCCAGGTG -3'

Posted On

2015-08-18