Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01456:Igkv10-96'

84771

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv10-96

Ensembl Gene

ENSMUSG00000094420

Gene Name

immunoglobulin kappa variable 10-96

Synonyms

Gm16637

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

IGL01456

Quality Score

Status

Chromosome

Chromosomal Location

68608949-68609414 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68609086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 70 (Y70H)

Ref Sequence

ENSEMBL: ENSMUSP00000100129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103328]

AlphaFold

A0A140T8M1

Predicted Effect

probably benign
Transcript: ENSMUST00000103328
AA Change: Y70H

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000100129
Gene: ENSMUSG00000094420
AA Change: Y70H

Domain	Start	End	E-Value	Type
low complexity region	8	13	N/A	INTRINSIC
IGv	38	110	1.94e-19	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
Adam6b	T	A	12: 113,455,083 (GRCm39)	D633E	probably benign	Het
Akap13	T	C	7: 75,252,595 (GRCm39)	C242R	probably damaging	Het
Ap5z1	T	C	5: 142,453,791 (GRCm39)	L175P	probably damaging	Het
Arid1b	A	G	17: 5,341,510 (GRCm39)	E938G	probably damaging	Het
Arid4a	A	G	12: 71,114,036 (GRCm39)	N208D	probably benign	Het
Atr	A	G	9: 95,832,618 (GRCm39)	H2556R	possibly damaging	Het
Cald1	A	T	6: 34,741,931 (GRCm39)	D438V	probably damaging	Het
Dcbld2	C	T	16: 58,229,236 (GRCm39)	P40S	possibly damaging	Het
Dock8	G	A	19: 25,096,863 (GRCm39)	M590I	possibly damaging	Het
Gm1818	A	T	12: 48,602,583 (GRCm39)		noncoding transcript	Het
Hace1	A	G	10: 45,586,094 (GRCm39)		probably benign	Het
Kdm2a	G	T	19: 4,401,783 (GRCm39)	H200Q	probably damaging	Het
Ldha	A	G	7: 46,499,602 (GRCm39)	D111G	possibly damaging	Het
Map7	A	G	10: 20,149,550 (GRCm39)	E567G	unknown	Het
Nbeal1	G	T	1: 60,269,787 (GRCm39)	L375F	probably damaging	Het
Nectin3	T	C	16: 46,279,216 (GRCm39)	E254G	probably benign	Het
Nlrp4b	A	T	7: 10,448,150 (GRCm39)	I118F	probably benign	Het
Pkhd1	A	T	1: 20,269,683 (GRCm39)	V3287D	probably damaging	Het
Ptpre	T	G	7: 135,271,531 (GRCm39)	V375G	probably damaging	Het
Rabgap1	A	G	2: 37,431,187 (GRCm39)	E746G	probably damaging	Het
Sh2b2	C	T	5: 136,253,321 (GRCm39)	C311Y	probably damaging	Het
Skor1	G	A	9: 63,052,772 (GRCm39)	T399I	probably damaging	Het
Sptbn2	A	G	19: 4,796,777 (GRCm39)	T1792A	probably damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tln1	G	A	4: 43,543,432 (GRCm39)		probably benign	Het
Tmc7	C	A	7: 118,146,533 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Tpte	A	G	8: 22,835,068 (GRCm39)		probably benign	Het
Unc13a	G	A	8: 72,097,211 (GRCm39)	R1228W	probably damaging	Het
Vipr1	C	T	9: 121,494,244 (GRCm39)	T275M	probably damaging	Het
Vmn1r177	G	T	7: 23,565,753 (GRCm39)	P41Q	possibly damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het

Other mutations in Igkv10-96

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1555:Igkv10-96	UTSW	6	68,609,365 (GRCm39)	critical splice donor site	probably benign
R4347:Igkv10-96	UTSW	6	68,609,164 (GRCm39)	missense	probably benign	0.10
R5229:Igkv10-96	UTSW	6	68,609,223 (GRCm39)	missense	possibly damaging	0.88
R6396:Igkv10-96	UTSW	6	68,608,969 (GRCm39)	nonsense	probably null
R6623:Igkv10-96	UTSW	6	68,609,158 (GRCm39)	missense	probably damaging	0.97
R7183:Igkv10-96	UTSW	6	68,609,200 (GRCm39)	missense	probably benign	0.39
R7194:Igkv10-96	UTSW	6	68,609,028 (GRCm39)	missense	possibly damaging	0.80
R7866:Igkv10-96	UTSW	6	68,609,025 (GRCm39)	missense	possibly damaging	0.95
R8325:Igkv10-96	UTSW	6	68,609,088 (GRCm39)	missense	possibly damaging	0.93
R9669:Igkv10-96	UTSW	6	68,608,957 (GRCm39)	missense	probably benign	0.00
R9678:Igkv10-96	UTSW	6	68,609,224 (GRCm39)	missense	probably benign	0.05
R9737:Igkv10-96	UTSW	6	68,608,957 (GRCm39)	missense	probably benign	0.00

Posted On

2013-11-11