Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02699:Ighv1-12'

304054

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-12

Ensembl Gene

ENSMUSG00000095416

Gene Name

immunoglobulin heavy variable V1-12

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

IGL02699

Quality Score

Status

Chromosome

Chromosomal Location

114579470-114579763 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 114579736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 29 (E29*)

Ref Sequence

ENSEMBL: ENSMUSP00000142024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103500] [ENSMUST00000109711] [ENSMUST00000191801] [ENSMUST00000195469]

AlphaFold

A0A075B5U0

Predicted Effect

probably null
Transcript: ENSMUST00000103500
AA Change: E10*

SMART Domains

Protein: ENSMUSP00000100281
Gene: ENSMUSG00000095416
AA Change: E10*

Domain	Start	End	E-Value	Type
IGv	17	98	5.55e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109711

SMART Domains

Protein: ENSMUSP00000105333
Gene: ENSMUSG00000095416

Domain	Start	End	E-Value	Type
IG_like	1	60	4.1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191801

SMART Domains

Protein: ENSMUSP00000141570
Gene: ENSMUSG00000102888

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	1.8e-28	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000195469
AA Change: E29*

SMART Domains

Protein: ENSMUSP00000142024
Gene: ENSMUSG00000095416
AA Change: E29*

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	2.2e-31	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,157,853 (GRCm39)	D198G	probably benign	Het
Casq1	T	C	1: 172,047,263 (GRCm39)		probably benign	Het
Cd109	T	A	9: 78,579,271 (GRCm39)		probably benign	Het
Col15a1	T	G	4: 47,284,471 (GRCm39)		probably benign	Het
Ctdp1	T	C	18: 80,493,400 (GRCm39)	D365G	probably benign	Het
Daam1	T	C	12: 72,035,717 (GRCm39)	F971L	probably damaging	Het
Dalrd3	T	A	9: 108,448,088 (GRCm39)		probably benign	Het
Dnaaf5	T	C	5: 139,139,105 (GRCm39)		probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fbxo8	A	G	8: 57,043,223 (GRCm39)	T236A	possibly damaging	Het
Il17re	A	G	6: 113,445,880 (GRCm39)	D397G	probably damaging	Het
Ing5	A	G	1: 93,744,164 (GRCm39)	N157D	possibly damaging	Het
Ipo11	T	C	13: 107,025,905 (GRCm39)	E395G	possibly damaging	Het
Letm1	T	C	5: 33,902,492 (GRCm39)	E599G	possibly damaging	Het
Mansc1	T	C	6: 134,587,317 (GRCm39)	T287A	probably benign	Het
Med1	T	C	11: 98,070,851 (GRCm39)	N131D	possibly damaging	Het
Or10ak13	G	T	4: 118,639,349 (GRCm39)	C144*	probably null	Het
Or13p3	T	C	4: 118,567,395 (GRCm39)	S264P	probably benign	Het
Or6c2b	T	G	10: 128,947,640 (GRCm39)	Y218S	probably benign	Het
Or8k38	A	T	2: 86,488,691 (GRCm39)	I37N	probably benign	Het
Osm	T	C	11: 4,189,723 (GRCm39)	V169A	possibly damaging	Het
Phkg2	C	T	7: 127,181,722 (GRCm39)	A278V	probably benign	Het
Plod2	T	A	9: 92,489,195 (GRCm39)	M709K	probably damaging	Het
Pzp	A	T	6: 128,464,364 (GRCm39)		probably null	Het
Ric1	T	C	19: 29,499,957 (GRCm39)	L12P	possibly damaging	Het
Skor1	C	A	9: 63,047,328 (GRCm39)		probably benign	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Syncrip	A	G	9: 88,338,607 (GRCm39)		probably benign	Het
Tex2	T	C	11: 106,459,259 (GRCm39)	E57G	possibly damaging	Het
Tmc1	C	T	19: 20,809,714 (GRCm39)		probably null	Het
Tmem59	T	C	4: 107,049,735 (GRCm39)	M140T	probably benign	Het
Ttn	T	C	2: 76,774,433 (GRCm39)	T2158A	probably damaging	Het

Other mutations in Ighv1-12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6169:Ighv1-12	UTSW	12	114,579,577 (GRCm39)	missense	possibly damaging	0.85
R8918:Ighv1-12	UTSW	12	114,579,553 (GRCm39)	missense	probably damaging	0.97
R9485:Ighv1-12	UTSW	12	114,579,525 (GRCm39)	missense	possibly damaging	0.93
R9598:Ighv1-12	UTSW	12	114,579,757 (GRCm39)	missense	probably benign
Z1176:Ighv1-12	UTSW	12	114,579,633 (GRCm39)	missense	possibly damaging	0.78

Posted On

2015-04-16