Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02130:Ighv10-3'

280999

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv10-3

Ensembl Gene

ENSMUSG00000095700

Gene Name

immunoglobulin heavy variable V10-3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

IGL02130

Quality Score

Status

Chromosome

Chromosomal Location

114487061-114487507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114487121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 100 (L100H)

Ref Sequence

ENSEMBL: ENSMUSP00000100276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103495]

AlphaFold

A0A075B5T6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103495
AA Change: L100H

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

SMART Domains

Protein: ENSMUSP00000100276
Gene: ENSMUSG00000095700
AA Change: L100H

Domain	Start	End	E-Value	Type
IGv	36	119	4.79e-33	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn7l1	A	T	12: 33,392,141 (GRCm39)	K239M	probably damaging	Het
Cep164	T	C	9: 45,691,090 (GRCm39)	E1230G	possibly damaging	Het
Fas	A	G	19: 34,292,695 (GRCm39)	T101A	probably benign	Het
Fcnb	A	G	2: 27,974,801 (GRCm39)		probably null	Het
Gm14325	A	G	2: 177,476,445 (GRCm39)		probably benign	Het
Gm4877	A	T	6: 42,496,991 (GRCm39)		noncoding transcript	Het
Heyl	T	C	4: 123,140,064 (GRCm39)	S208P	probably benign	Het
Irs1	T	C	1: 82,267,188 (GRCm39)	S343G	probably damaging	Het
Lrriq4	T	A	3: 30,704,896 (GRCm39)	V293E	probably damaging	Het
Mbd3l1	A	T	9: 18,396,023 (GRCm39)	R49S	probably damaging	Het
Mdga1	A	G	17: 30,076,643 (GRCm39)	I43T	possibly damaging	Het
N4bp3	T	C	11: 51,534,773 (GRCm39)	E430G	possibly damaging	Het
Olfml3	A	G	3: 103,644,283 (GRCm39)	Y129H	probably benign	Het
Or4c125	C	A	2: 89,169,927 (GRCm39)	V240F	probably damaging	Het
Or8b12i	A	G	9: 20,082,654 (GRCm39)	I71T	probably damaging	Het
Prex2	T	C	1: 11,183,023 (GRCm39)	V424A	probably damaging	Het
Prex2	T	A	1: 11,230,386 (GRCm39)	V804E	probably damaging	Het
Rnf103	T	C	6: 71,486,548 (GRCm39)	L393S	probably damaging	Het
Rnf20	T	C	4: 49,644,481 (GRCm39)		probably benign	Het
Slc25a16	A	G	10: 62,780,137 (GRCm39)	I299V	probably benign	Het
Tmprss2	A	T	16: 97,392,089 (GRCm39)	C5S	probably damaging	Het
Trpv3	A	C	11: 73,170,596 (GRCm39)	M159L	probably benign	Het
Vmn2r45	A	T	7: 8,486,556 (GRCm39)	M244K	possibly damaging	Het

Other mutations in Ighv10-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02433:Ighv10-3	APN	12	114,487,514 (GRCm39)	utr 5 prime	probably benign
IGL03154:Ighv10-3	APN	12	114,487,507 (GRCm39)	start codon destroyed	probably benign	0.08
R0392:Ighv10-3	UTSW	12	114,487,460 (GRCm39)	critical splice donor site	probably benign
R4342:Ighv10-3	UTSW	12	114,487,124 (GRCm39)	missense	possibly damaging	0.74
R5288:Ighv10-3	UTSW	12	114,487,125 (GRCm39)	missense	probably benign	0.00
R6330:Ighv10-3	UTSW	12	114,487,086 (GRCm39)	missense	possibly damaging	0.89
R7676:Ighv10-3	UTSW	12	114,487,299 (GRCm39)	missense	probably damaging	1.00
R9718:Ighv10-3	UTSW	12	114,487,254 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16