Mutagenetix > Incidental Mutation

Incidental Mutation 'R5952:Ighv12-3'

470968

Institutional Source

Beutler Lab

Gene Symbol

Ighv12-3

Ensembl Gene

ENSMUSG00000076676

Gene Name

immunoglobulin heavy variable V12-3

Synonyms

MMRRC Submission

044142-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114366521-114366954 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114366584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 97 (F97Y)

Ref Sequence

ENSEMBL: ENSMUSP00000100266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103485]

AlphaFold

A0A075B5T1

Predicted Effect

probably benign
Transcript: ENSMUST00000103485
AA Change: F97Y

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000100266
Gene: ENSMUSG00000076676
AA Change: F97Y

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGv	35	116	5.3e-26	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

91% (62/68)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,965,621	T2060A	probably damaging	Het
Add2	A	T	6: 86,109,746	D296V	probably damaging	Het
Ak9	A	G	10: 41,357,563	E599G	possibly damaging	Het
Ank3	A	T	10: 69,986,463	I1604F	probably benign	Het
Arid4a	A	G	12: 71,063,206	D107G	probably benign	Het
Btn2a2	A	T	13: 23,482,808	I209N	probably benign	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Csmd3	A	G	15: 47,733,505	V1979A	probably damaging	Het
Cyp4a12b	C	T	4: 115,414,517	R142*	probably null	Het
Ddx23	A	T	15: 98,658,240	S66T	unknown	Het
Efcab2	A	G	1: 178,475,874	K121R	probably benign	Het
Epb41l1	T	A	2: 156,503,788	V237D	probably damaging	Het
Epb41l1	G	T	2: 156,524,983	A579S	probably benign	Het
Epn1	G	A	7: 5,093,912	R231H	probably damaging	Het
Fbrs	T	C	7: 127,487,752	S649P	probably damaging	Het
Fezf1	A	G	6: 23,247,428	V216A	probably benign	Het
Gen1	A	T	12: 11,260,896	S112T	probably damaging	Het
Glrx2	A	G	1: 143,745,134	N84D	probably benign	Het
Gm1818	T	G	12: 48,555,936		noncoding transcript	Het
Hira	C	A	16: 18,935,065	T553K	possibly damaging	Het
Hnrnph3	A	G	10: 63,015,595		probably benign	Het
Jcad	A	G	18: 4,674,554	Q772R	probably damaging	Het
Lamb3	A	G	1: 193,332,362	T610A	probably benign	Het
Map3k19	T	C	1: 127,822,740	D958G	probably benign	Het
Map4k4	G	A	1: 39,999,922		probably benign	Het
Mocos	T	C	18: 24,701,387	V827A	possibly damaging	Het
Ms4a10	T	A	19: 10,964,122	D161V	probably damaging	Het
Myh9	A	G	15: 77,773,332	I1071T	possibly damaging	Het
Myo15	A	G	11: 60,479,420	E1002G	possibly damaging	Het
Neurod6	G	A	6: 55,679,017	H212Y	probably damaging	Het
Olfr1448	T	C	19: 12,919,830	N160D	probably benign	Het
Olfr56	A	T	11: 49,134,572	I95F	probably damaging	Het
Olfr618	T	A	7: 103,597,967	I217N	probably damaging	Het
Pcdhb17	T	C	18: 37,487,080	V641A	probably benign	Het
Ppp3ca	A	T	3: 136,928,571	M431L	probably benign	Het
Ptprk	A	T	10: 28,585,675	I69F	probably damaging	Het
Rab34	G	T	11: 78,190,268		probably benign	Het
Rb1cc1	A	G	1: 6,248,182	N619S	probably benign	Het
Rnf169	T	C	7: 99,925,633	H585R	probably damaging	Het
Rps6kc1	A	G	1: 190,885,420	V129A	probably benign	Het
Siglecf	C	T	7: 43,355,927	T437M	probably benign	Het
Slc25a2	T	C	18: 37,638,282	N65D	probably benign	Het
Spire1	A	G	18: 67,506,709	S245P	probably benign	Het
Sptb	A	T	12: 76,632,384	M99K	probably benign	Het
Tacc1	G	T	8: 25,181,995	L406I	possibly damaging	Het
Tas2r137	T	C	6: 40,491,542	I102T	probably benign	Het
Trappc11	A	T	8: 47,496,917		probably null	Het
Trbv11	A	G	6: 41,107,219		noncoding transcript	Het
Trmt11	A	G	10: 30,560,842	Y301H	probably benign	Het
Tspo	A	G	15: 83,572,240	T75A	possibly damaging	Het
Ttn	T	C	2: 76,880,225		probably benign	Het
Zfhx4	A	G	3: 5,396,970	Q1210R	probably damaging	Het
Zhx3	A	T	2: 160,782,017	Y77N	probably damaging	Het

Other mutations in Ighv12-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:Ighv12-3	APN	12	114366953	start codon destroyed	probably null	0.86
IGL02314:Ighv12-3	APN	12	114366801	missense	probably damaging	1.00
IGL02701:Ighv12-3	APN	12	114366801	missense	probably damaging	1.00
IGL02945:Ighv12-3	APN	12	114366717	missense	probably damaging	1.00
R5569:Ighv12-3	UTSW	12	114366935	missense	probably benign
R6542:Ighv12-3	UTSW	12	114366815	missense	probably benign	0.41
R8962:Ighv12-3	UTSW	12	114366584	missense	probably benign	0.07
R9131:Ighv12-3	UTSW	12	114366926	missense	probably benign	0.40
R9335:Ighv12-3	UTSW	12	114366692	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCTGGCCAAAGACATTC -3'
(R):5'- GATGCAGCTTCAGGAGTCAG -3'

Sequencing Primer
(F):5'- TGGCCAAAGACATTCTCTTTTTC -3'
(R):5'- AGGACCTGGCCTGGTGAAAC -3'

Posted On

2017-03-31