Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02262:Igkv3-10'

286778

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv3-10

Ensembl Gene

ENSMUSG00000076596

Gene Name

immunoglobulin kappa variable 3-10

Synonyms

V-kappa-21B

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02262

Quality Score

Status

Chromosome

Chromosomal Location

70549617-70550214 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70550154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 100 (D100V)

Ref Sequence

ENSEMBL: ENSMUSP00000143628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103397] [ENSMUST00000196940]

AlphaFold

A0A075B5N8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103397
AA Change: D99V

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100198
Gene: ENSMUSG00000076596
AA Change: D99V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	37	113	7.45e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196940
AA Change: D100V

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143628
Gene: ENSMUSG00000076596
AA Change: D100V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	114	3.1e-23	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	G	T	10: 14,317,140 (GRCm39)	A560E	probably benign	Het
Apol7c	A	T	15: 77,410,013 (GRCm39)	M311K	probably benign	Het
Arap2	A	C	5: 62,800,184 (GRCm39)	V1281G	probably damaging	Het
Cacna1s	C	T	1: 136,035,867 (GRCm39)	T1388I	probably damaging	Het
Dcaf13	T	C	15: 38,982,102 (GRCm39)		probably benign	Het
Dscaml1	G	A	9: 45,656,414 (GRCm39)	G1585S	probably benign	Het
Dscaml1	G	A	9: 45,643,378 (GRCm39)	V1266I	probably benign	Het
Epc1	A	G	18: 6,437,278 (GRCm39)	L750P	probably damaging	Het
Fgd6	T	A	10: 93,961,490 (GRCm39)	M1108K	probably damaging	Het
Gm14496	T	C	2: 181,637,805 (GRCm39)	I293T	probably damaging	Het
Gm21759	T	C	5: 8,230,747 (GRCm39)		probably benign	Het
Ipo13	A	C	4: 117,761,010 (GRCm39)	I569M	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Kif26b	A	G	1: 178,743,633 (GRCm39)	Y1243C	probably benign	Het
Map3k12	T	C	15: 102,410,510 (GRCm39)	E489G	probably damaging	Het
Mtcl2	A	T	2: 156,872,826 (GRCm39)	V895E	probably damaging	Het
Nrxn1	A	G	17: 91,011,636 (GRCm39)	V331A	probably damaging	Het
Ntrk1	G	A	3: 87,689,104 (GRCm39)	L529F	probably damaging	Het
Obscn	A	T	11: 58,919,359 (GRCm39)	C6882S	possibly damaging	Het
Or14j5	A	C	17: 38,162,154 (GRCm39)	T224P	probably damaging	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Ppp1r13b	C	A	12: 111,801,645 (GRCm39)	L346F	possibly damaging	Het
Psg22	T	C	7: 18,458,496 (GRCm39)	S396P	probably damaging	Het
Rbm19	A	G	5: 120,281,470 (GRCm39)	E797G	probably damaging	Het
Ros1	T	G	10: 52,055,065 (GRCm39)	D79A	probably damaging	Het
Scn10a	C	T	9: 119,487,499 (GRCm39)	V612I	possibly damaging	Het
Sema4c	A	G	1: 36,589,422 (GRCm39)	V568A	probably damaging	Het
Traf5	A	G	1: 191,729,636 (GRCm39)	F472L	probably damaging	Het
Trim30b	C	T	7: 104,015,107 (GRCm39)	V94M	probably damaging	Het
Wasl	A	T	6: 24,619,186 (GRCm39)	S445T	unknown	Het
Zfp541	A	G	7: 15,813,620 (GRCm39)	K758E	probably damaging	Het

Other mutations in Igkv3-10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02407:Igkv3-10	APN	6	70,550,223 (GRCm39)	unclassified	probably benign
R7141:Igkv3-10	UTSW	6	70,549,965 (GRCm39)	missense	possibly damaging	0.89
R9701:Igkv3-10	UTSW	6	70,550,001 (GRCm39)	missense	probably damaging	0.96
R9802:Igkv3-10	UTSW	6	70,550,001 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16