Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01690:Igkv3-5'

104069

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: 0.205) question?

Stock #

IGL01690

Quality Score

Status

Chromosome

Chromosomal Location

70640282-70640879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70640865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 115 (S115R)

Ref Sequence

ENSEMBL: ENSMUSP00000100201 (fasta)

Gene Model

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

AlphaFold

A0A140T8M6

Predicted Effect

probably benign
Transcript: ENSMUST00000103400
AA Change: S115R

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100201
Gene: ENSMUSG00000095335
AA Change: S115R

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429P17Rik	A	G	13: 48,114,446 (GRCm39)		noncoding transcript	Het
Agap2	T	C	10: 126,918,827 (GRCm39)		probably benign	Het
Bicra	G	A	7: 15,721,678 (GRCm39)	T613I	probably benign	Het
Cd163	T	C	6: 124,284,277 (GRCm39)	S150P	possibly damaging	Het
Cfap107	G	A	4: 144,165,098 (GRCm39)	T26M	probably damaging	Het
F830045P16Rik	T	G	2: 129,314,614 (GRCm39)	Q221P	probably damaging	Het
Fam135b	T	A	15: 71,328,784 (GRCm39)	M1172L	probably benign	Het
Fbxo2	G	T	4: 148,249,581 (GRCm39)		probably null	Het
Frem1	C	T	4: 82,877,533 (GRCm39)		probably benign	Het
Galnt17	C	T	5: 131,114,734 (GRCm39)		probably null	Het
Gipc2	A	G	3: 151,833,771 (GRCm39)	I170T	probably damaging	Het
Gm2399	C	T	13: 12,717,417 (GRCm39)		noncoding transcript	Het
Hdac10	T	A	15: 89,010,194 (GRCm39)	M283L	probably benign	Het
Icam5	A	G	9: 20,946,095 (GRCm39)	E309G	possibly damaging	Het
Ift70a1	A	G	2: 75,810,277 (GRCm39)	V602A	probably benign	Het
Impg2	A	G	16: 56,025,568 (GRCm39)	R67G	probably damaging	Het
Kansl1l	T	C	1: 66,840,232 (GRCm39)	Y356C	probably damaging	Het
Ly75	T	C	2: 60,168,655 (GRCm39)	D751G	probably damaging	Het
Lyst	A	G	13: 13,917,831 (GRCm39)	D3297G	probably damaging	Het
Mall	A	G	2: 127,571,699 (GRCm39)	F30L	probably benign	Het
Map1b	C	T	13: 99,571,512 (GRCm39)	G403D	probably damaging	Het
Mmp11	T	C	10: 75,762,730 (GRCm39)	Y241C	probably damaging	Het
Niban1	C	A	1: 151,579,555 (GRCm39)	R425S	probably damaging	Het
Or4a72	A	G	2: 89,405,557 (GRCm39)	V171A	probably benign	Het
Pcnt	C	T	10: 76,228,609 (GRCm39)	A1519T	probably damaging	Het
Pcsk2	A	G	2: 143,529,490 (GRCm39)	M96V	probably benign	Het
Piwil4	T	C	9: 14,614,391 (GRCm39)	D124G	probably damaging	Het
Plb1	A	T	5: 32,471,041 (GRCm39)	I538F	probably damaging	Het
Polq	A	G	16: 36,883,200 (GRCm39)	D1788G	probably damaging	Het
Pus7	A	G	5: 23,980,962 (GRCm39)	S134P	probably damaging	Het
Sec61a2	G	A	2: 5,891,363 (GRCm39)	S56L	possibly damaging	Het
Sel1l	G	T	12: 91,810,033 (GRCm39)	D26E	probably benign	Het
Slc25a48	G	A	13: 56,612,758 (GRCm39)		probably benign	Het
Tas2r126	T	C	6: 42,412,241 (GRCm39)	F258S	probably benign	Het
Tnfrsf13b	G	A	11: 61,032,146 (GRCm39)	V59I	possibly damaging	Het
Usp6nl	G	A	2: 6,445,879 (GRCm39)	V619M	probably benign	Het
Vmn1r67	A	G	7: 10,180,767 (GRCm39)	I10M	possibly damaging	Het
Vmn2r71	A	G	7: 85,264,782 (GRCm39)	D38G	probably damaging	Het

Other mutations in Igkv3-5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:Igkv3-5	APN	6	70,640,336 (GRCm39)	splice site	probably benign
IGL01983:Igkv3-5	APN	6	70,640,670 (GRCm39)	missense	probably benign	0.00
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

2014-01-21