Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01909:Igkv14-130'

179753

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv14-130

Ensembl Gene

ENSMUSG00000096461

Gene Name

immunoglobulin kappa variable 14-130

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

IGL01909

Quality Score

Status

Chromosome

Chromosomal Location

67768030-67768495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67768323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 60 (K60E)

Ref Sequence

ENSEMBL: ENSMUSP00000100108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103307] [ENSMUST00000196006]

AlphaFold

A0A075B5J7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103307
AA Change: K60E

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100108
Gene: ENSMUSG00000096461
AA Change: K60E

Domain	Start	End	E-Value	Type
IGv	39	111	6.38e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158532

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196006
AA Change: K61E

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143018
Gene: ENSMUSG00000096461
AA Change: K61E

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	112	2.6e-22	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700111E14Rik	A	T	6: 36,914,152 (GRCm39)		probably benign	Het
Actn2	A	T	13: 12,324,479 (GRCm39)		probably null	Het
Apom	C	T	17: 35,350,208 (GRCm39)	A78T	probably benign	Het
Bambi	A	G	18: 3,508,229 (GRCm39)	Y7C	possibly damaging	Het
Cdc42bpb	T	C	12: 111,289,576 (GRCm39)	M418V	probably benign	Het
Clptm1	T	C	7: 19,389,701 (GRCm39)	N43D	probably benign	Het
Cspp1	T	C	1: 10,136,886 (GRCm39)	V241A	probably benign	Het
Ctnna3	T	A	10: 63,339,910 (GRCm39)	I32N	probably benign	Het
Elp2	A	G	18: 24,752,576 (GRCm39)		probably benign	Het
Frmd4a	A	G	2: 4,608,844 (GRCm39)	D893G	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
H2-M10.1	C	A	17: 36,635,971 (GRCm39)	G154*	probably null	Het
Igdcc3	C	T	9: 65,051,819 (GRCm39)	R141W	probably damaging	Het
Kcnmb2	A	G	3: 32,252,512 (GRCm39)		probably benign	Het
Lrp4	T	C	2: 91,324,529 (GRCm39)	L1288P	possibly damaging	Het
Mavs	T	A	2: 131,087,441 (GRCm39)	M313K	probably benign	Het
Mia2	A	G	12: 59,154,731 (GRCm39)	E148G	possibly damaging	Het
Or6c76b	A	T	10: 129,692,950 (GRCm39)	T188S	probably damaging	Het
Or8b12b	T	A	9: 37,684,159 (GRCm39)	I68K	possibly damaging	Het
Or8d1	T	A	9: 38,767,013 (GRCm39)	Y218*	probably null	Het
Plekha3	C	T	2: 76,517,047 (GRCm39)	T133M	probably damaging	Het
Plxna1	A	T	6: 89,309,066 (GRCm39)		probably null	Het
Septin2	A	G	1: 93,426,823 (GRCm39)	N144S	probably damaging	Het
Slc9a4	T	C	1: 40,651,451 (GRCm39)		probably benign	Het
Slco1b2	T	A	6: 141,594,312 (GRCm39)	I59K	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Tnrc6b	A	G	15: 80,786,184 (GRCm39)	S1243G	possibly damaging	Het
Unc13a	T	A	8: 72,091,854 (GRCm39)		probably benign	Het
Vmn2r105	T	C	17: 20,444,918 (GRCm39)	R525G	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r37	T	A	7: 9,219,032 (GRCm39)	K451*	probably null	Het
Vmn2r71	C	T	7: 85,270,001 (GRCm39)	T504I	probably benign	Het
Zfp668	A	T	7: 127,465,994 (GRCm39)	C397S	probably damaging	Het

Other mutations in Igkv14-130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4362001:Igkv14-130	UTSW	6	67,768,392 (GRCm39)	missense	probably damaging	1.00
R4760:Igkv14-130	UTSW	6	67,768,446 (GRCm39)	missense	probably benign	0.00
R5046:Igkv14-130	UTSW	6	67,768,465 (GRCm39)	missense	probably damaging	0.98
R5922:Igkv14-130	UTSW	6	67,768,206 (GRCm39)	missense	probably damaging	1.00
R6189:Igkv14-130	UTSW	6	67,768,432 (GRCm39)	missense	probably damaging	1.00
R6579:Igkv14-130	UTSW	6	67,768,421 (GRCm39)	nonsense	probably null
R8779:Igkv14-130	UTSW	6	67,768,311 (GRCm39)	missense	probably damaging	1.00
R9066:Igkv14-130	UTSW	6	67,768,219 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-05-07