Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL01537

Quality Score

Status

Chromosome

Chromosomal Location

95614412-95617599 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 95616992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122280 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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: 110,459,312 (GRCm39)	R317G	probably benign	Het
Brinp2	T	C	1: 158,074,379 (GRCm39)	T581A	probably damaging	Het
Cacna1b	A	T	2: 24,548,540 (GRCm39)	I1179N	probably damaging	Het
Cacnb3	A	G	15: 98,541,301 (GRCm39)	D434G	probably damaging	Het
Cdh19	T	C	1: 110,847,341 (GRCm39)	T423A	possibly damaging	Het
Chkb	C	T	15: 89,311,986 (GRCm39)		probably benign	Het
Cit	T	C	5: 116,071,913 (GRCm39)	Y623H	probably benign	Het
Clstn3	G	A	6: 124,408,559 (GRCm39)	R918C	possibly damaging	Het
Dnah2	T	A	11: 69,406,906 (GRCm39)	M200L	probably benign	Het
Dnah9	T	A	11: 65,838,506 (GRCm39)	H3097L	probably benign	Het
Dst	T	A	1: 34,314,401 (GRCm39)	L4217H	probably damaging	Het
Fam107b	T	A	2: 3,779,565 (GRCm39)	L80Q	probably damaging	Het
Fgfr1	T	A	8: 26,045,595 (GRCm39)	C55S	probably damaging	Het
Igkv4-71	C	A	6: 69,220,264 (GRCm39)	G78*	probably null	Het
Igsf10	A	G	3: 59,237,452 (GRCm39)	S910P	probably benign	Het
Ikzf3	T	C	11: 98,407,718 (GRCm39)	D41G	probably damaging	Het
Larp1	T	A	11: 57,933,648 (GRCm39)	I358N	possibly damaging	Het
Marchf5	C	T	19: 37,188,067 (GRCm39)		probably benign	Het
Mpdz	T	C	4: 81,287,895 (GRCm39)	T455A	probably damaging	Het
Myo1b	A	G	1: 51,815,510 (GRCm39)	V612A	possibly damaging	Het
Nipbl	T	C	15: 8,380,023 (GRCm39)	D923G	probably benign	Het
Nlrp4b	T	C	7: 10,448,918 (GRCm39)	F7L	probably damaging	Het
Npas4	T	C	19: 5,037,355 (GRCm39)	N313S	possibly damaging	Het
Nynrin	T	A	14: 56,109,502 (GRCm39)	N1536K	possibly damaging	Het
Or10d5	T	A	9: 39,861,921 (GRCm39)	T49S	probably benign	Het
Or13a22	A	G	7: 140,072,751 (GRCm39)	N67D	probably damaging	Het
Or4c107	T	C	2: 88,788,885 (GRCm39)	V25A	probably benign	Het
Pclo	T	C	5: 14,589,647 (GRCm39)	V649A	unknown	Het
Pom121	A	G	5: 135,421,389 (GRCm39)		probably benign	Het
Ptcd2	A	T	13: 99,466,521 (GRCm39)	I224N	possibly damaging	Het
Rsrp1	C	T	4: 134,651,290 (GRCm39)	P18L	unknown	Het
Sash1	A	T	10: 8,605,422 (GRCm39)	N989K	probably damaging	Het
Scn2a	T	A	2: 65,546,219 (GRCm39)	H927Q	probably benign	Het
Selenoi	G	T	5: 30,461,222 (GRCm39)	V128F	probably damaging	Het
Slc25a42	T	C	8: 70,642,092 (GRCm39)	I117V	probably benign	Het
Spata1	A	G	3: 146,195,558 (GRCm39)		probably benign	Het
Sptlc3	A	T	2: 139,431,615 (GRCm39)	Y379F	possibly damaging	Het
Tent4a	A	T	13: 69,648,678 (GRCm39)	S693T	probably benign	Het
Tinag	C	T	9: 76,952,885 (GRCm39)	R33K	probably benign	Het
Trappc8	T	C	18: 20,968,061 (GRCm39)	D1092G	probably benign	Het
Xntrpc	A	G	7: 101,722,401 (GRCm39)	E22G	probably damaging	Het
Zbtb7b	A	G	3: 89,287,278 (GRCm39)	M397T	possibly damaging	Het
Zgpat	A	G	2: 181,020,682 (GRCm39)	D285G	probably benign	Het

Other mutations in B130006D01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R0157:B130006D01Rik	UTSW	11	95,617,211 (GRCm39)	intron	probably benign
R4204:B130006D01Rik	UTSW	11	95,617,250 (GRCm39)	intron	probably benign
R4608:B130006D01Rik	UTSW	11	95,617,066 (GRCm39)	intron	probably benign
R4667:B130006D01Rik	UTSW	11	95,617,335 (GRCm39)	intron	probably benign
R6222:B130006D01Rik	UTSW	11	95,616,988 (GRCm39)	intron	probably benign
R7739:B130006D01Rik	UTSW	11	95,616,986 (GRCm39)	missense	unknown
R8470:B130006D01Rik	UTSW	11	95,617,175 (GRCm39)	intron	probably benign
R9555:B130006D01Rik	UTSW	11	95,616,956 (GRCm39)	missense	unknown

Posted On

2013-12-03