Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02336:Ighv1-42'

288818

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-42

Ensembl Gene

ENSMUSG00000094652

Gene Name

immunoglobulin heavy variable V1-42

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

IGL02336

Quality Score

Status

Chromosome

Chromosomal Location

114900774-114901164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114900885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 67 (I67F)

Ref Sequence

ENSEMBL: ENSMUSP00000142261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103516] [ENSMUST00000191868]

AlphaFold

A0A075B5V6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103516
AA Change: I48F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100297
Gene: ENSMUSG00000094652
AA Change: I48F

Domain	Start	End	E-Value	Type
IGv	17	98	7.85e-29	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191868
AA Change: I67F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142261
Gene: ENSMUSG00000094652
AA Change: I67F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	3.3e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194414

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	G	2: 93,696,253 (GRCm39)	V119A	possibly damaging	Het
Adamts12	T	A	15: 11,311,331 (GRCm39)	M1196K	probably benign	Het
Adgre1	T	A	17: 57,718,024 (GRCm39)	C345*	probably null	Het
Adrb2	T	C	18: 62,312,078 (GRCm39)	E249G	probably benign	Het
Amdhd1	T	A	10: 93,360,291 (GRCm39)	I423F	probably benign	Het
Ankhd1	A	G	18: 36,727,867 (GRCm39)	N501S	probably damaging	Het
Bltp2	T	C	11: 78,179,858 (GRCm39)	V2127A	probably damaging	Het
Cd180	T	A	13: 102,841,821 (GRCm39)	I289N	probably damaging	Het
Chst5	T	A	8: 112,616,949 (GRCm39)	I224F	probably damaging	Het
Cox6a2	A	G	7: 127,805,103 (GRCm39)	I60T	possibly damaging	Het
Dnajc6	C	T	4: 101,471,483 (GRCm39)		probably null	Het
Dpp6	G	A	5: 27,674,409 (GRCm39)	E179K	probably benign	Het
Fasn	G	A	11: 120,704,562 (GRCm39)	T1341I	possibly damaging	Het
Fat1	C	T	8: 45,404,620 (GRCm39)	T457I	probably benign	Het
Filip1l	A	T	16: 57,392,096 (GRCm39)		probably null	Het
Gje1	A	T	10: 14,592,413 (GRCm39)	I123N	probably damaging	Het
Gli3	A	G	13: 15,894,874 (GRCm39)	T683A	probably damaging	Het
Gm29326	C	A	7: 29,260,833 (GRCm39)		noncoding transcript	Het
Gm5460	A	G	14: 33,765,909 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,200 (GRCm39)	S739N	probably benign	Het
Iqgap1	A	G	7: 80,402,041 (GRCm39)	V408A	probably benign	Het
Kdm7a	A	T	6: 39,147,198 (GRCm39)	W250R	probably damaging	Het
Kif5a	A	G	10: 127,078,565 (GRCm39)	I360T	possibly damaging	Het
Maml1	T	C	11: 50,148,992 (GRCm39)	N916S	probably benign	Het
Mier2	A	T	10: 79,384,184 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,474 (GRCm39)	T69S	probably benign	Het
Nlk	C	A	11: 78,477,763 (GRCm39)	V327F	probably damaging	Het
Nme5	A	T	18: 34,711,730 (GRCm39)	S4T	probably benign	Het
Notch2	A	G	3: 98,045,711 (GRCm39)	I1625M	possibly damaging	Het
Nup210l	T	C	3: 90,088,859 (GRCm39)		probably null	Het
Oas1d	A	G	5: 121,057,111 (GRCm39)	E239G	probably damaging	Het
Olfm4	T	C	14: 80,243,761 (GRCm39)	S110P	probably damaging	Het
Or52e2	T	C	7: 102,804,772 (GRCm39)	M61V	probably benign	Het
Parn	T	A	16: 13,384,567 (GRCm39)	I499F	probably damaging	Het
Ppargc1a	G	A	5: 51,653,068 (GRCm39)	Q165*	probably null	Het
Ppp1r12b	T	A	1: 134,814,244 (GRCm39)	E353V	probably damaging	Het
Prkdc	A	G	16: 15,603,842 (GRCm39)	Q2952R	possibly damaging	Het
Prkdc	G	T	16: 15,603,843 (GRCm39)	Q2952H	probably benign	Het
Qars1	G	T	9: 108,392,185 (GRCm39)	E143*	probably null	Het
Reln	A	G	5: 22,134,132 (GRCm39)	Y2599H	probably damaging	Het
Rnf123	T	C	9: 107,939,041 (GRCm39)	E803G	probably damaging	Het
Rnf141	G	A	7: 110,436,405 (GRCm39)	Q8*	probably null	Het
Rnf167	A	G	11: 70,540,952 (GRCm39)	I193V	probably benign	Het
Rprd2	A	T	3: 95,694,622 (GRCm39)	M137K	probably benign	Het
Rtf1	T	G	2: 119,559,226 (GRCm39)		probably benign	Het
Serpina1d	T	A	12: 103,731,055 (GRCm39)	R308*	probably null	Het
Smg7	T	C	1: 152,719,030 (GRCm39)	Y899C	probably benign	Het
Tbr1	C	A	2: 61,635,336 (GRCm39)	H95Q	possibly damaging	Het
Tcf19	A	T	17: 35,825,380 (GRCm39)		probably null	Het
Timm44	T	A	8: 4,317,692 (GRCm39)	R210W	probably damaging	Het
Trnau1ap	C	A	4: 132,041,331 (GRCm39)	E194*	probably null	Het
Trp63	G	A	16: 25,639,192 (GRCm39)	G127S	probably damaging	Het
Trrap	C	T	5: 144,735,200 (GRCm39)	A989V	probably benign	Het
Ttn	T	C	2: 76,600,326 (GRCm39)	D18988G	probably damaging	Het
Tubb4b-ps1	T	A	5: 7,229,952 (GRCm39)		probably benign	Het
Vmn1r77	G	A	7: 11,775,223 (GRCm39)		probably null	Het
Vmn1r80	A	G	7: 11,927,181 (GRCm39)	Y97C	probably benign	Het
Vmn2r77	G	A	7: 86,451,224 (GRCm39)	C370Y	probably damaging	Het
Xntrpc	C	A	7: 101,733,492 (GRCm39)	A147D	probably damaging	Het
Zc3h4	C	T	7: 16,159,702 (GRCm39)	S424F	unknown	Het
Zcwpw1	T	A	5: 137,808,376 (GRCm39)	S275T	probably damaging	Het
Zfp979	C	T	4: 147,699,808 (GRCm39)	C44Y	probably damaging	Het
Zscan20	T	C	4: 128,479,587 (GRCm39)	H968R	probably damaging	Het
Zswim3	T	C	2: 164,662,297 (GRCm39)	V259A	probably damaging	Het
Zzz3	T	G	3: 152,133,696 (GRCm39)	D251E	possibly damaging	Het

Other mutations in Ighv1-42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01563:Ighv1-42	APN	12	114,900,804 (GRCm39)	missense	probably damaging	1.00
IGL02143:Ighv1-42	APN	12	114,900,906 (GRCm39)	missense	probably benign	0.35
R4829:Ighv1-42	UTSW	12	114,900,788 (GRCm39)	missense	probably benign	0.28
R5603:Ighv1-42	UTSW	12	114,901,132 (GRCm39)	unclassified	probably benign
R6106:Ighv1-42	UTSW	12	114,900,907 (GRCm39)	missense	probably benign	0.03
R6858:Ighv1-42	UTSW	12	114,900,966 (GRCm39)	missense	probably damaging	1.00
R6902:Ighv1-42	UTSW	12	114,901,155 (GRCm39)	missense	possibly damaging	0.46
R6946:Ighv1-42	UTSW	12	114,901,155 (GRCm39)	missense	possibly damaging	0.46
R6979:Ighv1-42	UTSW	12	114,900,848 (GRCm39)	missense	possibly damaging	0.66
R9471:Ighv1-42	UTSW	12	114,900,927 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16