Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02496:D630045J12Rik'

295830

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D630045J12Rik

Ensembl Gene

ENSMUSG00000063455

Gene Name

RIKEN cDNA D630045J12 gene

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

38123174-38254009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38149705 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 1457 (H1457N)

Ref Sequence

ENSEMBL: ENSMUSP00000130121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117556] [ENSMUST00000169256]

Predicted Effect

probably damaging
Transcript: ENSMUST00000117556
AA Change: H1316N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: H1316N

Domain	Start	End	E-Value	Type
low complexity region	190	203	N/A	INTRINSIC
low complexity region	290	301	N/A	INTRINSIC
low complexity region	414	431	N/A	INTRINSIC
low complexity region	528	573	N/A	INTRINSIC
low complexity region	581	598	N/A	INTRINSIC
transmembrane domain	708	730	N/A	INTRINSIC
Pfam:DUF3827	746	1412	N/A	PFAM
low complexity region	1480	1500	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149557

Predicted Effect

probably damaging
Transcript: ENSMUST00000169256
AA Change: H1457N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: H1457N

Domain	Start	End	E-Value	Type
signal peptide	1	45	N/A	INTRINSIC
low complexity region	469	482	N/A	INTRINSIC
low complexity region	569	580	N/A	INTRINSIC
low complexity region	693	710	N/A	INTRINSIC
low complexity region	807	852	N/A	INTRINSIC
low complexity region	860	877	N/A	INTRINSIC
transmembrane domain	987	1009	N/A	INTRINSIC
Pfam:DUF3827	1026	1691	7.1e-301	PFAM
low complexity region	1759	1779	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,288,553	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243		probably benign	Het
Csn1s1	C	T	5: 87,677,594		probably benign	Het
Cul9	G	T	17: 46,540,376	R373S	possibly damaging	Het
Dnah9	A	G	11: 66,029,363	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919		probably benign	Het
Flnc	G	T	6: 29,440,685	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761	S445G	probably benign	Het
Hif3a	A	G	7: 17,039,678		probably benign	Het
Hsd17b4	T	C	18: 50,155,153	Y217H	probably damaging	Het
Iba57	T	C	11: 59,158,946	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558		probably benign	Het
Mmp20	A	G	9: 7,654,041	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043		probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002		probably null	Het
Parp8	T	C	13: 116,862,302		probably benign	Het
Pcdhb6	A	G	18: 37,335,454	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,607,094	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,289,663	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383		probably benign	Het
Pmaip1	A	G	18: 66,463,299	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,711,726	A20T	probably null	Het
Serpinb10	A	C	1: 107,538,425		probably null	Het
Sipa1l1	T	A	12: 82,425,094	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,344,485	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,682,400	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,620,088	H691L	probably damaging	Het
Smo	A	C	6: 29,758,481	T542P	probably damaging	Het
Spats2	T	A	15: 99,173,448	I51N	probably damaging	Het
Spon1	G	T	7: 114,036,662	V704L	probably benign	Het
St5	C	A	7: 109,556,235	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823		probably benign	Het
Vmn1r8	G	T	6: 57,036,571	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431		probably benign	Het
Wfdc1	T	G	8: 119,680,170	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,624,042	S349P	probably damaging	Het
Znfx1	A	T	2: 167,047,630	C731S	possibly damaging	Het

Other mutations in D630045J12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:D630045J12Rik	APN	6	38194930	missense	probably benign	0.03
IGL01089:D630045J12Rik	APN	6	38136963	missense	probably benign
IGL01745:D630045J12Rik	APN	6	38191720	missense	probably damaging	0.99
IGL02069:D630045J12Rik	APN	6	38184072	missense	probably damaging	0.98
IGL02238:D630045J12Rik	APN	6	38196394	missense	probably benign
IGL02675:D630045J12Rik	APN	6	38195485	missense	possibly damaging	0.93
IGL03030:D630045J12Rik	APN	6	38149713	missense	probably damaging	1.00
IGL03203:D630045J12Rik	APN	6	38168221	missense	probably damaging	0.98
IGL03205:D630045J12Rik	APN	6	38147259	missense	probably damaging	1.00
PIT4472001:D630045J12Rik	UTSW	6	38178839	missense	probably damaging	1.00
PIT4687001:D630045J12Rik	UTSW	6	38195101	missense	probably benign
R0021:D630045J12Rik	UTSW	6	38183967	nonsense	probably null
R0021:D630045J12Rik	UTSW	6	38183967	nonsense	probably null
R0128:D630045J12Rik	UTSW	6	38149771	splice site	probably benign
R0130:D630045J12Rik	UTSW	6	38149771	splice site	probably benign
R0206:D630045J12Rik	UTSW	6	38139450	missense	probably damaging	0.99
R0208:D630045J12Rik	UTSW	6	38139450	missense	probably damaging	0.99
R0347:D630045J12Rik	UTSW	6	38181392	missense	probably damaging	0.97
R0396:D630045J12Rik	UTSW	6	38196736	missense	possibly damaging	0.85
R0538:D630045J12Rik	UTSW	6	38191693	missense	probably damaging	1.00
R0636:D630045J12Rik	UTSW	6	38196778	missense	probably benign
R0842:D630045J12Rik	UTSW	6	38148465	missense	probably damaging	1.00
R1120:D630045J12Rik	UTSW	6	38194770	missense	probably damaging	0.96
R1323:D630045J12Rik	UTSW	6	38148508	missense	probably damaging	1.00
R1323:D630045J12Rik	UTSW	6	38148508	missense	probably damaging	1.00
R1412:D630045J12Rik	UTSW	6	38195760	missense	probably benign	0.03
R1546:D630045J12Rik	UTSW	6	38190655	missense	probably damaging	1.00
R1649:D630045J12Rik	UTSW	6	38181431	missense	probably damaging	0.98
R1704:D630045J12Rik	UTSW	6	38139427	missense	probably benign	0.14
R1969:D630045J12Rik	UTSW	6	38168143	missense	probably damaging	1.00
R1971:D630045J12Rik	UTSW	6	38168143	missense	probably damaging	1.00
R2182:D630045J12Rik	UTSW	6	38174147	critical splice donor site	probably null
R2354:D630045J12Rik	UTSW	6	38158091	missense	possibly damaging	0.88
R2926:D630045J12Rik	UTSW	6	38168171	missense	probably damaging	1.00
R3768:D630045J12Rik	UTSW	6	38142909	missense	probably damaging	1.00
R3886:D630045J12Rik	UTSW	6	38142698	missense	possibly damaging	0.90
R4439:D630045J12Rik	UTSW	6	38194761	missense	probably benign	0.07
R4688:D630045J12Rik	UTSW	6	38196657	missense	possibly damaging	0.85
R4739:D630045J12Rik	UTSW	6	38196036	missense	possibly damaging	0.76
R4748:D630045J12Rik	UTSW	6	38196841	missense	possibly damaging	0.91
R4792:D630045J12Rik	UTSW	6	38148340	missense	probably damaging	1.00
R4794:D630045J12Rik	UTSW	6	38194485	missense	possibly damaging	0.90
R4947:D630045J12Rik	UTSW	6	38148543	missense	probably damaging	1.00
R4959:D630045J12Rik	UTSW	6	38148367	missense	possibly damaging	0.81
R4973:D630045J12Rik	UTSW	6	38148367	missense	possibly damaging	0.81
R5261:D630045J12Rik	UTSW	6	38194620	missense	probably benign
R5344:D630045J12Rik	UTSW	6	38158228	missense	probably damaging	1.00
R5488:D630045J12Rik	UTSW	6	38196847	missense	possibly damaging	0.85
R5489:D630045J12Rik	UTSW	6	38196847	missense	possibly damaging	0.85
R5605:D630045J12Rik	UTSW	6	38191764	missense	probably damaging	1.00
R5828:D630045J12Rik	UTSW	6	38196367	missense	possibly damaging	0.47
R5831:D630045J12Rik	UTSW	6	38142657	missense	possibly damaging	0.80
R5939:D630045J12Rik	UTSW	6	38194969	missense	possibly damaging	0.70
R6021:D630045J12Rik	UTSW	6	38190617	missense	probably benign	0.05
R6060:D630045J12Rik	UTSW	6	38130864	missense	probably damaging	1.00
R6081:D630045J12Rik	UTSW	6	38142698	missense	probably damaging	0.99
R6498:D630045J12Rik	UTSW	6	38147197	nonsense	probably null
R6930:D630045J12Rik	UTSW	6	38158216	missense	probably damaging	1.00
R7019:D630045J12Rik	UTSW	6	38194635	missense	probably benign	0.12
R7156:D630045J12Rik	UTSW	6	38195029	missense	possibly damaging	0.91
R7248:D630045J12Rik	UTSW	6	38168263	missense	probably damaging	1.00
R7249:D630045J12Rik	UTSW	6	38136950	missense	possibly damaging	0.95
R7250:D630045J12Rik	UTSW	6	38142611	missense	possibly damaging	0.80
R7376:D630045J12Rik	UTSW	6	38174303	missense	probably damaging	0.99
R7491:D630045J12Rik	UTSW	6	38142666	missense	possibly damaging	0.89
R7552:D630045J12Rik	UTSW	6	38148448	missense	probably damaging	0.99
R7560:D630045J12Rik	UTSW	6	38196627	missense	possibly damaging	0.72
R7593:D630045J12Rik	UTSW	6	38195494	missense	possibly damaging	0.93
R7624:D630045J12Rik	UTSW	6	38149563	missense	probably damaging	1.00
R7654:D630045J12Rik	UTSW	6	38177701	missense	probably damaging	1.00
R7950:D630045J12Rik	UTSW	6	38181310	splice site	probably null

Posted On

2015-04-16