Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01537:B130006D01Rik'

90001

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B130006D01Rik

Ensembl Gene

ENSMUSG00000075596

Gene Name

RIKEN cDNA B130006D01 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

IGL01537

Quality Score

Status

Chromosome

Chromosomal Location

95723587-95726710 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 95726166 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100534] [ENSMUST00000107717] [ENSMUST00000133070]

Predicted Effect

unknown
Transcript: ENSMUST00000100534
AA Change: I39K

SMART Domains

Protein: ENSMUSP00000098103
Gene: ENSMUSG00000075596
AA Change: I39K

Domain	Start	End	E-Value	Type
low complexity region	60	81	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107717

SMART Domains

Protein: ENSMUSP00000103345
Gene: ENSMUSG00000075595

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
low complexity region	173	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
ZnF_C2H2	244	267	7.9e-4	SMART
ZnF_C2H2	271	291	6.15e1	SMART
ZnF_C2H2	298	321	1.76e-1	SMART
ZnF_C2H2	328	350	2.53e-2	SMART
ZnF_C2H2	356	378	6.78e-3	SMART
ZnF_C2H2	384	406	2.95e-3	SMART
ZnF_C2H2	412	434	1.95e-3	SMART
ZnF_C2H2	440	462	1.15e-5	SMART
ZnF_C2H2	468	488	6.15e1	SMART
low complexity region	508	529	N/A	INTRINSIC
low complexity region	544	576	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133070

SMART Domains

Protein: ENSMUSP00000122280
Gene: ENSMUSG00000075595

Domain	Start	End	E-Value	Type
low complexity region	95	108	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
low complexity region	173	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
ZnF_C2H2	244	267	7.9e-4	SMART
ZnF_C2H2	271	291	6.15e1	SMART
ZnF_C2H2	298	321	1.76e-1	SMART
ZnF_C2H2	328	350	2.53e-2	SMART
ZnF_C2H2	356	378	6.78e-3	SMART
ZnF_C2H2	384	406	2.95e-3	SMART
ZnF_C2H2	412	434	1.95e-3	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
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
Igkv4-71	C	A	6: 69,243,280	G78*	probably null	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 B130006D01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R0157:B130006D01Rik	UTSW	11	95726385	intron	probably benign
R4204:B130006D01Rik	UTSW	11	95726424	intron	probably benign
R4608:B130006D01Rik	UTSW	11	95726240	intron	probably benign
R4667:B130006D01Rik	UTSW	11	95726509	intron	probably benign
R6222:B130006D01Rik	UTSW	11	95726162	intron	probably benign
R7739:B130006D01Rik	UTSW	11	95726160	missense	unknown
R8470:B130006D01Rik	UTSW	11	95726349	intron	probably benign

Posted On

2013-12-03