Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01389:Ighv1-85'

79134

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv1-85

Ensembl Gene

ENSMUSG00000096150

Gene Name

immunoglobulin heavy variable 1-85

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01389

Quality Score

Status

Chromosome

Chromosomal Location

115963648-115963941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115963671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 110 (S110P)

Ref Sequence

ENSEMBL: ENSMUSP00000100333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103552]

AlphaFold

A0A075B5Y6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103552
AA Change: S110P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000100333
Gene: ENSMUSG00000096150
AA Change: S110P

Domain	Start	End	E-Value	Type
IGv	36	117	9.15e-30	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc163	T	C	4: 116,568,503 (GRCm39)		probably benign	Het
Ceacam5	T	G	7: 17,481,300 (GRCm39)	V349G	probably damaging	Het
Ces2e	T	A	8: 105,656,197 (GRCm39)	D169E	probably benign	Het
Cfh	G	T	1: 140,082,377 (GRCm39)	T150K	probably benign	Het
Chrd	A	G	16: 20,559,975 (GRCm39)	M859V	possibly damaging	Het
Clca3a2	C	T	3: 144,783,629 (GRCm39)		probably null	Het
Crocc	T	C	4: 140,749,423 (GRCm39)	E1536G	probably damaging	Het
Dhx57	A	G	17: 80,588,652 (GRCm39)	V67A	probably benign	Het
Dock11	T	C	X: 35,256,701 (GRCm39)	V576A	probably benign	Het
Lyg1	G	A	1: 37,989,011 (GRCm39)	P70S	probably damaging	Het
Numbl	T	G	7: 26,980,472 (GRCm39)	F485V	possibly damaging	Het
Or4x6	A	T	2: 89,949,412 (GRCm39)	C177S	probably damaging	Het
Pclo	A	G	5: 14,764,535 (GRCm39)	E1051G	probably damaging	Het
Pdzd2	T	C	15: 12,374,712 (GRCm39)	S1808G	possibly damaging	Het
Rad51b	T	A	12: 79,349,327 (GRCm39)	H54Q	probably benign	Het
Rbbp7	T	C	X: 161,552,939 (GRCm39)		probably benign	Het
Rhbdl2	G	T	4: 123,723,450 (GRCm39)	V285L	probably benign	Het
Slc22a16	T	A	10: 40,461,131 (GRCm39)	M311K	probably damaging	Het
Slc22a21	A	G	11: 53,870,407 (GRCm39)	S93P	probably damaging	Het
Stt3b	T	C	9: 115,082,968 (GRCm39)	E488G	probably benign	Het
Tas2r108	A	G	6: 40,470,866 (GRCm39)	H114R	possibly damaging	Het
Tcaim	A	G	9: 122,643,627 (GRCm39)	E109G	possibly damaging	Het
Tsc22d2	A	G	3: 58,323,659 (GRCm39)	T184A	probably damaging	Het
Vmn2r2	G	T	3: 64,024,430 (GRCm39)	T717N	probably damaging	Het
Vps25	C	T	11: 101,144,861 (GRCm39)	Q20*	probably null	Het
Xiap	T	C	X: 41,183,429 (GRCm39)	F52L	probably damaging	Het

Other mutations in Ighv1-85

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Ighv1-85	APN	12	115,963,654 (GRCm39)	missense	probably damaging	1.00
R3008:Ighv1-85	UTSW	12	115,963,704 (GRCm39)	missense	probably damaging	0.97
R3707:Ighv1-85	UTSW	12	115,963,836 (GRCm39)	missense	probably damaging	1.00
R3708:Ighv1-85	UTSW	12	115,963,836 (GRCm39)	missense	probably damaging	1.00
R5542:Ighv1-85	UTSW	12	115,963,847 (GRCm39)	missense	probably benign	0.02
R5644:Ighv1-85	UTSW	12	115,963,680 (GRCm39)	missense	possibly damaging	0.89
R7311:Ighv1-85	UTSW	12	115,963,799 (GRCm39)	missense	probably damaging	0.99
R7846:Ighv1-85	UTSW	12	115,963,937 (GRCm39)	missense	possibly damaging	0.63
R8186:Ighv1-85	UTSW	12	115,963,923 (GRCm39)	missense	probably benign	0.13
R8249:Ighv1-85	UTSW	12	115,963,844 (GRCm39)	missense	probably benign
R9570:Ighv1-85	UTSW	12	115,963,794 (GRCm39)	missense	probably benign

Posted On

2013-11-05