Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03118:Ighv5-12'

409851

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv5-12

Ensembl Gene

ENSMUSG00000095429

Gene Name

immunoglobulin heavy variable 5-12

Synonyms

Gm16592

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

113665746-113666039 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 113666198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000100231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103450]

AlphaFold

A0A075B5Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000103450
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000100231
Gene: ENSMUSG00000095429
AA Change: M1L

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
IGv	36	117	8.02e-35	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,619,424 (GRCm39)	G921S	probably benign	Het
Abca8b	T	C	11: 109,838,007 (GRCm39)	T1082A	possibly damaging	Het
B9d2	T	C	7: 25,380,901 (GRCm39)		probably null	Het
Bfsp1	T	C	2: 143,669,253 (GRCm39)	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,078,673 (GRCm39)		probably benign	Het
Ccl1	A	G	11: 82,068,896 (GRCm39)	I47T	probably damaging	Het
Cln3	T	C	7: 126,174,569 (GRCm39)	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,290,173 (GRCm39)	R242I	possibly damaging	Het
Dcc	T	C	18: 71,553,344 (GRCm39)	T771A	probably benign	Het
Erbb4	T	C	1: 68,081,878 (GRCm39)	D1052G	probably benign	Het
Fcnb	T	C	2: 27,966,630 (GRCm39)	N301S	probably benign	Het
Gm28043	A	C	17: 29,853,705 (GRCm39)	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804 (GRCm39)		probably benign	Het
Il17rd	A	G	14: 26,815,352 (GRCm39)		probably null	Het
Kcnn3	T	A	3: 89,574,468 (GRCm39)	L660Q	probably damaging	Het
Lcor	C	T	19: 41,546,808 (GRCm39)	P131S	probably damaging	Het
Leng1	T	C	7: 3,668,409 (GRCm39)	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,468,160 (GRCm39)	V827A	probably damaging	Het
Mapk13	A	G	17: 28,996,709 (GRCm39)	Y208C	probably benign	Het
Mybpc3	T	C	2: 90,954,848 (GRCm39)	V453A	probably damaging	Het
Odam	T	C	5: 88,033,613 (GRCm39)	S15P	unknown	Het
Or11l3	A	T	11: 58,516,269 (GRCm39)	V201D	probably damaging	Het
Or8d1	A	T	9: 38,766,526 (GRCm39)	H56L	probably damaging	Het
Pcdhb19	T	C	18: 37,632,618 (GRCm39)		probably benign	Het
Per2	G	T	1: 91,372,341 (GRCm39)	Y244*	probably null	Het
Pik3ca	A	T	3: 32,514,084 (GRCm39)	I857F	probably damaging	Het
Pold1	T	A	7: 44,188,824 (GRCm39)	I447F	probably benign	Het
Ppm1f	T	A	16: 16,731,942 (GRCm39)	W131R	probably null	Het
Ppp2r2c	A	G	5: 37,083,660 (GRCm39)	Y67C	probably damaging	Het
Psmb10	A	T	8: 106,663,532 (GRCm39)	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470 (GRCm39)	A149V	probably benign	Het
Pygb	T	A	2: 150,662,731 (GRCm39)	V566E	probably benign	Het
Rictor	G	A	15: 6,788,999 (GRCm39)	R205Q	possibly damaging	Het
Ryr1	T	A	7: 28,715,211 (GRCm39)	R4638W	unknown	Het
Semp2l2a	C	T	8: 13,888,096 (GRCm39)		probably benign	Het
Septin3	G	A	15: 82,168,715 (GRCm39)		probably null	Het
Serpina3b	A	T	12: 104,097,313 (GRCm39)	D198V	probably benign	Het
Slc27a6	C	A	18: 58,689,815 (GRCm39)	H94N	probably benign	Het
Taf2	C	T	15: 54,915,559 (GRCm39)	V456M	probably damaging	Het
Tbpl2	T	C	2: 23,977,301 (GRCm39)	E238G	probably benign	Het
Ttn	C	T	2: 76,584,551 (GRCm39)	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,912,000 (GRCm39)		probably benign	Het
Zfp865	T	C	7: 5,037,644 (GRCm39)		probably benign	Het

Other mutations in Ighv5-12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Ighv5-12	APN	12	113,665,927 (GRCm39)	missense	probably damaging	1.00
R5568:Ighv5-12	UTSW	12	113,665,837 (GRCm39)	missense	probably damaging	1.00
R7402:Ighv5-12	UTSW	12	113,665,853 (GRCm39)	missense	probably benign	0.09
R7760:Ighv5-12	UTSW	12	113,665,795 (GRCm39)	missense	probably benign	0.05
R8017:Ighv5-12	UTSW	12	113,665,792 (GRCm39)	missense	probably damaging	1.00
R8019:Ighv5-12	UTSW	12	113,665,792 (GRCm39)	missense	probably damaging	1.00
R9369:Ighv5-12	UTSW	12	113,665,985 (GRCm39)	nonsense	probably null
R9711:Ighv5-12	UTSW	12	113,665,958 (GRCm39)	missense	probably benign	0.06

Posted On

2016-08-02