Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01089:D630045J12Rik'

51288

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 #

IGL01089

Quality Score

Status

Chromosome

Chromosomal Location

38123174-38254009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38136963 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1765 (S1765P)

Ref Sequence

ENSEMBL: ENSMUSP00000130121 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000117556
AA Change: S1624P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: S1624P

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 benign
Transcript: ENSMUST00000169256
AA Change: S1765P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: S1765P

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,337	E180G	possibly damaging	Het
Actr8	T	C	14: 29,988,335	L353S	probably damaging	Het
Adgrf2	G	A	17: 42,710,158	P592S	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Afap1l2	A	C	19: 56,913,411		probably null	Het
Asnsd1	G	A	1: 53,348,277	P64S	probably damaging	Het
Bmt2	A	G	6: 13,663,271	M76T	probably damaging	Het
Clca3b	A	T	3: 144,823,522	V797D	probably benign	Het
Cog2	T	C	8: 124,545,243	S499P	probably benign	Het
Cyp27a1	A	T	1: 74,731,938	Y94F	possibly damaging	Het
D430042O09Rik	A	G	7: 125,795,313	E187G	probably damaging	Het
Fam149a	A	G	8: 45,348,527	L519P	possibly damaging	Het
Fam171a2	G	A	11: 102,437,848	A695V	possibly damaging	Het
Fat1	T	A	8: 45,017,857	V1566E	probably damaging	Het
Flvcr1	T	G	1: 191,013,390	N361H	probably damaging	Het
Gm1110	T	C	9: 26,881,860	N540S	probably benign	Het
Kcns3	T	A	12: 11,091,571	T376S	possibly damaging	Het
Krt32	A	G	11: 100,087,779	S150P	probably benign	Het
Lrtm2	C	T	6: 119,320,792	R96Q	possibly damaging	Het
Mctp1	A	G	13: 77,020,798	E838G	probably damaging	Het
Mios	T	C	6: 8,234,363		probably null	Het
Olfr338	A	T	2: 36,377,166	Y130F	probably damaging	Het
Phldb1	T	A	9: 44,707,887	K167*	probably null	Het
Pkhd1l1	A	G	15: 44,483,869		probably benign	Het
Plaa	A	G	4: 94,574,047	V531A	probably benign	Het
Psmb2	A	G	4: 126,684,206	Y59C	probably damaging	Het
Ptprg	A	G	14: 12,215,286	H1091R	probably damaging	Het
Rbm44	T	A	1: 91,168,697	V926D	possibly damaging	Het
Rgma	G	T	7: 73,409,714	V189L	possibly damaging	Het
Sbf2	A	T	7: 110,348,962	I1227K	probably damaging	Het
Slc8a1	T	C	17: 81,648,281	T443A	probably damaging	Het
Slc8a1	A	G	17: 81,388,881	V896A	probably damaging	Het
Taf2	T	C	15: 55,016,581	M1120V	probably benign	Het
Ugt2b34	C	T	5: 86,906,326	V199I	probably benign	Het
Unc5c	C	A	3: 141,818,202		probably benign	Het
Usp37	G	A	1: 74,493,046	R63*	probably null	Het

Other mutations in D630045J12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:D630045J12Rik	APN	6	38194930	missense	probably benign	0.03
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
IGL02496:D630045J12Rik	APN	6	38149705	missense	probably damaging	1.00
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
R8159:D630045J12Rik	UTSW	6	38128475	missense	probably damaging	0.99
R8167:D630045J12Rik	UTSW	6	38190549	critical splice donor site	probably null
R8189:D630045J12Rik	UTSW	6	38158171	missense	probably damaging	1.00
R8260:D630045J12Rik	UTSW	6	38142911	critical splice acceptor site	probably null
R8270:D630045J12Rik	UTSW	6	38190723	nonsense	probably null
R8331:D630045J12Rik	UTSW	6	38148474	missense	probably damaging	1.00
R8363:D630045J12Rik	UTSW	6	38148441	missense	probably damaging	1.00
R8365:D630045J12Rik	UTSW	6	38195635	missense	probably benign

Posted On

2013-06-21