Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01983:Igkv3-5'

183515

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv3-5

Ensembl Gene

ENSMUSG00000095335

Gene Name

immunoglobulin kappa chain variable 3-5

Synonyms

Gm16774, Igk-V21-5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

IGL01983

Quality Score

Status

Chromosome

Chromosomal Location

70640282-70640879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70640670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 50 (D50E)

Ref Sequence

ENSEMBL: ENSMUSP00000100201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103400]

AlphaFold

A0A140T8M6

Predicted Effect

probably benign
Transcript: ENSMUST00000103400
AA Change: D50E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000100201
Gene: ENSMUSG00000095335
AA Change: D50E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	114	7.98e-21	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
Acadl	G	A	1: 66,880,783 (GRCm39)	Q328*	probably null	Het
Alpk2	T	C	18: 65,483,753 (GRCm39)	Y85C	probably damaging	Het
Arhgap31	C	T	16: 38,422,127 (GRCm39)	R1313Q	probably damaging	Het
Chrnb1	G	T	11: 69,686,555 (GRCm39)	R22S	probably benign	Het
Clec7a	G	A	6: 129,442,539 (GRCm39)		probably benign	Het
Cyrib	A	G	15: 63,809,236 (GRCm39)	S251P	probably benign	Het
Epb41l5	A	G	1: 119,506,814 (GRCm39)		probably benign	Het
Hdac1-ps	T	A	17: 78,800,282 (GRCm39)	D424E	probably benign	Het
Hydin	A	C	8: 111,241,527 (GRCm39)	I2106L	probably benign	Het
Irf2bp1	G	T	7: 18,739,220 (GRCm39)	A287S	possibly damaging	Het
Ldb3	G	A	14: 34,299,156 (GRCm39)	S156L	probably benign	Het
Lnpep	A	T	17: 17,751,440 (GRCm39)	W942R	probably damaging	Het
Mst1r	T	A	9: 107,794,475 (GRCm39)	V1218D	probably damaging	Het
Naxd	G	T	8: 11,560,218 (GRCm39)		probably benign	Het
Nol9	T	C	4: 152,130,494 (GRCm39)		probably null	Het
Nus1	T	A	10: 52,312,753 (GRCm39)	L295Q	probably damaging	Het
Nxph2	A	G	2: 23,289,946 (GRCm39)	I99M	probably benign	Het
Plekhg1	T	A	10: 3,895,904 (GRCm39)	I432N	probably damaging	Het
Pon3	A	G	6: 5,240,974 (GRCm39)	L69S	probably damaging	Het
Pram1	C	A	17: 33,859,835 (GRCm39)	A134D	probably damaging	Het
Serpinb6c	T	A	13: 34,081,317 (GRCm39)		probably benign	Het
Stk10	A	T	11: 32,539,460 (GRCm39)	E280V	probably benign	Het
Tbc1d10c	T	A	19: 4,240,708 (GRCm39)	Q34L	possibly damaging	Het
Tnr	G	A	1: 159,691,349 (GRCm39)	V500I	probably benign	Het
Trim66	G	A	7: 109,057,458 (GRCm39)	R992*	probably null	Het
Unc45b	A	G	11: 82,827,687 (GRCm39)	D728G	probably benign	Het
Usp13	A	G	3: 32,971,608 (GRCm39)	D696G	probably damaging	Het
Utrn	C	T	10: 12,545,525 (GRCm39)	V1707I	probably benign	Het
Vmn2r96	A	T	17: 18,817,527 (GRCm39)	H368L	probably damaging	Het
Xrn1	T	C	9: 95,855,421 (GRCm39)		probably null	Het
Zfhx3	C	A	8: 109,673,866 (GRCm39)	L1639M	probably damaging	Het
Znfx1	A	T	2: 166,898,270 (GRCm39)	V218E	probably damaging	Het

Other mutations in Igkv3-5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01690:Igkv3-5	APN	6	70,640,865 (GRCm39)	missense	probably benign	0.21
IGL01769:Igkv3-5	APN	6	70,640,336 (GRCm39)	splice site	probably benign
R5997:Igkv3-5	UTSW	6	70,640,688 (GRCm39)	missense	probably benign
R9250:Igkv3-5	UTSW	6	70,640,758 (GRCm39)	missense	probably benign	0.19
Z1177:Igkv3-5	UTSW	6	70,640,654 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07