Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01537:Igkv4-71'

89982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv4-71

Ensembl Gene

ENSMUSG00000073028

Gene Name

immunoglobulin kappa chain variable 4-71

Synonyms

Gm16730

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL01537

Quality Score

Status

Chromosome

Chromosomal Location

69243158-69243445 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 69243280 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 78 (G78*)

Ref Sequence

ENSEMBL: ENSMUSP00000142768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101325] [ENSMUST00000196201]

Predicted Effect

probably null
Transcript: ENSMUST00000101325
AA Change: G56*

SMART Domains

Protein: ENSMUSP00000100575
Gene: ENSMUSG00000073028
AA Change: G56*

Domain	Start	End	E-Value	Type
IGv	18	89	2.98e-20	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000196201
AA Change: G78*

SMART Domains

Protein: ENSMUSP00000142768
Gene: ENSMUSG00000073028
AA Change: G78*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IGv	40	111	1.2e-22	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn1l	T	C	8: 109,732,680	R317G	probably benign	Het
B130006D01Rik	T	A	11: 95,726,166		probably benign	Het
Brinp2	T	C	1: 158,246,809	T581A	probably damaging	Het
Cacna1b	A	T	2: 24,658,528	I1179N	probably damaging	Het
Cacnb3	A	G	15: 98,643,420	D434G	probably damaging	Het
Cdh19	T	C	1: 110,919,611	T423A	possibly damaging	Het
Chkb	C	T	15: 89,427,783		probably benign	Het
Cit	T	C	5: 115,933,854	Y623H	probably benign	Het
Clstn3	G	A	6: 124,431,600	R918C	possibly damaging	Het
Dnah2	T	A	11: 69,516,080	M200L	probably benign	Het
Dnah9	T	A	11: 65,947,680	H3097L	probably benign	Het
Dst	T	A	1: 34,275,320	L4217H	probably damaging	Het
Fam107b	T	A	2: 3,778,528	L80Q	probably damaging	Het
Fgfr1	T	A	8: 25,555,579	C55S	probably damaging	Het
Igsf10	A	G	3: 59,330,031	S910P	probably benign	Het
Ikzf3	T	C	11: 98,516,892	D41G	probably damaging	Het
Larp1	T	A	11: 58,042,822	I358N	possibly damaging	Het
March5	C	T	19: 37,210,668		probably benign	Het
Mpdz	T	C	4: 81,369,658	T455A	probably damaging	Het
Myo1b	A	G	1: 51,776,351	V612A	possibly damaging	Het
Nipbl	T	C	15: 8,350,539	D923G	probably benign	Het
Nlrp4b	T	C	7: 10,714,991	F7L	probably damaging	Het
Npas4	T	C	19: 4,987,327	N313S	possibly damaging	Het
Nynrin	T	A	14: 55,872,045	N1536K	possibly damaging	Het
Olfr1212	T	C	2: 88,958,541	V25A	probably benign	Het
Olfr535	A	G	7: 140,492,838	N67D	probably damaging	Het
Olfr975	T	A	9: 39,950,625	T49S	probably benign	Het
Papd7	A	T	13: 69,500,559	S693T	probably benign	Het
Pclo	T	C	5: 14,539,633	V649A	unknown	Het
Pom121	A	G	5: 135,392,535		probably benign	Het
Ptcd2	A	T	13: 99,330,013	I224N	possibly damaging	Het
Rsrp1	C	T	4: 134,923,979	P18L	unknown	Het
Sash1	A	T	10: 8,729,658	N989K	probably damaging	Het
Scn2a	T	A	2: 65,715,875	H927Q	probably benign	Het
Selenoi	G	T	5: 30,256,224	V128F	probably damaging	Het
Slc25a42	T	C	8: 70,189,442	I117V	probably benign	Het
Spata1	A	G	3: 146,489,803		probably benign	Het
Sptlc3	A	T	2: 139,589,695	Y379F	possibly damaging	Het
Tinag	C	T	9: 77,045,603	R33K	probably benign	Het
Trappc8	T	C	18: 20,835,004	D1092G	probably benign	Het
Xntrpc	A	G	7: 102,073,194	E22G	probably damaging	Het
Zbtb7b	A	G	3: 89,379,971	M397T	possibly damaging	Het
Zgpat	A	G	2: 181,378,889	D285G	probably benign	Het

Other mutations in Igkv4-71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02293:Igkv4-71	APN	6	69243322	missense	possibly damaging	0.88
IGL03099:Igkv4-71	APN	6	69243415	missense	probably benign	0.01
R0501:Igkv4-71	UTSW	6	69243306	missense	probably damaging	1.00
R0556:Igkv4-71	UTSW	6	69243187	missense	probably damaging	1.00
R0675:Igkv4-71	UTSW	6	69243427	missense	probably damaging	1.00

Posted On

2013-12-03