Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02570:Igkv1-135'

298967

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv1-135

Ensembl Gene

ENSMUSG00000096336

Gene Name

immunoglobulin kappa variable 1-135

Synonyms

Igkv1-135

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02570

Quality Score

Status

Chromosome

Chromosomal Location

67586729-67587492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67586732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 2 (M2L)

Ref Sequence

ENSEMBL: ENSMUSP00000100104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103303]

AlphaFold

A0A0B4J1H7

Predicted Effect

probably benign
Transcript: ENSMUST00000103303
AA Change: M2L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100104
Gene: ENSMUSG00000096336
AA Change: M2L

Domain	Start	End	E-Value	Type
IGv	38	115	6.01e-16	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	T	C	17: 13,159,181 (GRCm39)	T3A	probably benign	Het
Anapc1	A	C	2: 128,487,120 (GRCm39)	F1087V	probably damaging	Het
Ccdc158	T	C	5: 92,796,885 (GRCm39)	T484A	possibly damaging	Het
Cps1	T	C	1: 67,187,862 (GRCm39)		probably benign	Het
Fscb	A	G	12: 64,518,952 (GRCm39)	I838T	unknown	Het
Gdap1	A	G	1: 17,215,709 (GRCm39)	Q5R	probably benign	Het
Gmds	A	G	13: 32,418,390 (GRCm39)		probably benign	Het
Gmfb	A	T	14: 47,054,904 (GRCm39)	D13E	probably benign	Het
Gpcpd1	A	T	2: 132,389,605 (GRCm39)	V250D	probably benign	Het
Grin2b	T	C	6: 135,899,996 (GRCm39)	D295G	probably damaging	Het
Impdh1	T	C	6: 29,203,197 (GRCm39)	Y375C	probably damaging	Het
Lrpprc	A	G	17: 85,057,981 (GRCm39)	Y750H	probably damaging	Het
Mab21l2	A	T	3: 86,454,531 (GRCm39)	S156R	possibly damaging	Het
Map4k4	T	C	1: 40,019,739 (GRCm39)	I146T	probably benign	Het
Pcdh18	A	T	3: 49,711,074 (GRCm39)	N80K	probably benign	Het
Pkhd1	A	G	1: 20,590,480 (GRCm39)	F1756L	probably damaging	Het
Plekhg3	A	G	12: 76,625,019 (GRCm39)	E1287G	probably benign	Het
Rev3l	T	A	10: 39,724,009 (GRCm39)	V2647E	possibly damaging	Het
Rxfp4	A	C	3: 88,560,149 (GRCm39)	S101A	probably damaging	Het
Spag4	A	T	2: 155,910,364 (GRCm39)	H330L	possibly damaging	Het
Spef2	G	A	15: 9,717,584 (GRCm39)	R254*	probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Usp16	A	G	16: 87,277,781 (GRCm39)	Y677C	probably damaging	Het
Vmn2r71	T	A	7: 85,264,748 (GRCm39)	W27R	possibly damaging	Het
Vwa5a	T	C	9: 38,646,167 (GRCm39)		probably benign	Het
Zfp935	A	G	13: 62,604,792 (GRCm39)	Y29H	probably damaging	Het

Other mutations in Igkv1-135

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2895:Igkv1-135	UTSW	6	67,587,332 (GRCm39)	missense	probably benign	0.18
R5520:Igkv1-135	UTSW	6	67,587,324 (GRCm39)	missense	possibly damaging	0.95
R5955:Igkv1-135	UTSW	6	67,587,263 (GRCm39)	missense	possibly damaging	0.62
R7233:Igkv1-135	UTSW	6	67,587,332 (GRCm39)	missense	probably benign	0.16
R8378:Igkv1-135	UTSW	6	67,587,378 (GRCm39)	missense	possibly damaging	0.70
R8757:Igkv1-135	UTSW	6	67,587,470 (GRCm39)	missense	possibly damaging	0.61

Posted On

2015-04-16