Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00578:D630045J12Rik'

6366

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D630045J12Rik

Ensembl Gene

ENSMUSG00000063455

Gene Name

RIKEN cDNA D630045J12 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00578

Quality Score

Status

Chromosome

Chromosomal Location

38100109-38230944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38171865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 768 (T768A)

Ref Sequence

ENSEMBL: ENSMUSP00000130121 (fasta)

Gene Model

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

AlphaFold

Q68FD9

Predicted Effect

probably benign
Transcript: ENSMUST00000117556
AA Change: T627A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: T627A

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: ENSMUST00000149557

Predicted Effect

probably benign
Transcript: ENSMUST00000169256
AA Change: T768A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: T768A

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,821,787 (GRCm39)	T729A	possibly damaging	Het
Ank3	C	A	10: 69,838,224 (GRCm39)	S864Y	possibly damaging	Het
Ankrd44	G	A	1: 54,701,806 (GRCm39)		probably benign	Het
Atp11c	C	T	X: 59,286,177 (GRCm39)	G996R	probably damaging	Het
Col11a1	A	G	3: 113,987,755 (GRCm39)	T250A	possibly damaging	Het
Cox8a	T	A	19: 7,192,770 (GRCm39)	Y65F	probably damaging	Het
Ctnnd1	G	T	2: 84,439,969 (GRCm39)	N451K	probably damaging	Het
Esyt1	A	G	10: 128,347,612 (GRCm39)	S999P	probably damaging	Het
Fyco1	A	G	9: 123,667,962 (GRCm39)	I88T	probably damaging	Het
Kdm2b	A	G	5: 123,099,630 (GRCm39)	V103A	probably damaging	Het
Klk1b26	T	C	7: 43,666,309 (GRCm39)	S251P	probably benign	Het
Krtap16-1	A	G	11: 99,876,121 (GRCm39)	S428P	probably benign	Het
Lrp1b	C	T	2: 40,569,185 (GRCm39)	V210I	unknown	Het
Mapk8ip3	A	T	17: 25,119,793 (GRCm39)	D1018E	probably damaging	Het
Nxph2	T	A	2: 23,290,334 (GRCm39)	C229S	probably damaging	Het
Prickle1	A	G	15: 93,398,662 (GRCm39)	L722P	probably benign	Het
Rbm12	A	T	2: 155,937,961 (GRCm39)		probably benign	Het
Rimoc1	C	A	15: 4,018,118 (GRCm39)	G186C	probably damaging	Het
Sfpq	T	C	4: 126,919,700 (GRCm39)	Y482H	probably damaging	Het
Sycp2	T	C	2: 177,992,615 (GRCm39)		probably benign	Het
Unc5b	A	G	10: 60,602,834 (GRCm39)	I866T	probably damaging	Het

Other mutations in D630045J12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:D630045J12Rik	APN	6	38,113,898 (GRCm39)	missense	probably benign
IGL01745:D630045J12Rik	APN	6	38,168,655 (GRCm39)	missense	probably damaging	0.99
IGL02069:D630045J12Rik	APN	6	38,161,007 (GRCm39)	missense	probably damaging	0.98
IGL02238:D630045J12Rik	APN	6	38,173,329 (GRCm39)	missense	probably benign
IGL02496:D630045J12Rik	APN	6	38,126,640 (GRCm39)	missense	probably damaging	1.00
IGL02675:D630045J12Rik	APN	6	38,172,420 (GRCm39)	missense	possibly damaging	0.93
IGL03030:D630045J12Rik	APN	6	38,126,648 (GRCm39)	missense	probably damaging	1.00
IGL03203:D630045J12Rik	APN	6	38,145,156 (GRCm39)	missense	probably damaging	0.98
IGL03205:D630045J12Rik	APN	6	38,124,194 (GRCm39)	missense	probably damaging	1.00
PIT4472001:D630045J12Rik	UTSW	6	38,155,774 (GRCm39)	missense	probably damaging	1.00
PIT4687001:D630045J12Rik	UTSW	6	38,172,036 (GRCm39)	missense	probably benign
R0021:D630045J12Rik	UTSW	6	38,160,902 (GRCm39)	nonsense	probably null
R0021:D630045J12Rik	UTSW	6	38,160,902 (GRCm39)	nonsense	probably null
R0128:D630045J12Rik	UTSW	6	38,126,706 (GRCm39)	splice site	probably benign
R0130:D630045J12Rik	UTSW	6	38,126,706 (GRCm39)	splice site	probably benign
R0206:D630045J12Rik	UTSW	6	38,116,385 (GRCm39)	missense	probably damaging	0.99
R0208:D630045J12Rik	UTSW	6	38,116,385 (GRCm39)	missense	probably damaging	0.99
R0347:D630045J12Rik	UTSW	6	38,158,327 (GRCm39)	missense	probably damaging	0.97
R0396:D630045J12Rik	UTSW	6	38,173,671 (GRCm39)	missense	possibly damaging	0.85
R0538:D630045J12Rik	UTSW	6	38,168,628 (GRCm39)	missense	probably damaging	1.00
R0636:D630045J12Rik	UTSW	6	38,173,713 (GRCm39)	missense	probably benign
R0842:D630045J12Rik	UTSW	6	38,125,400 (GRCm39)	missense	probably damaging	1.00
R1120:D630045J12Rik	UTSW	6	38,171,705 (GRCm39)	missense	probably damaging	0.96
R1323:D630045J12Rik	UTSW	6	38,125,443 (GRCm39)	missense	probably damaging	1.00
R1323:D630045J12Rik	UTSW	6	38,125,443 (GRCm39)	missense	probably damaging	1.00
R1412:D630045J12Rik	UTSW	6	38,172,695 (GRCm39)	missense	probably benign	0.03
R1546:D630045J12Rik	UTSW	6	38,167,590 (GRCm39)	missense	probably damaging	1.00
R1649:D630045J12Rik	UTSW	6	38,158,366 (GRCm39)	missense	probably damaging	0.98
R1704:D630045J12Rik	UTSW	6	38,116,362 (GRCm39)	missense	probably benign	0.14
R1969:D630045J12Rik	UTSW	6	38,145,078 (GRCm39)	missense	probably damaging	1.00
R1971:D630045J12Rik	UTSW	6	38,145,078 (GRCm39)	missense	probably damaging	1.00
R2182:D630045J12Rik	UTSW	6	38,151,082 (GRCm39)	critical splice donor site	probably null
R2354:D630045J12Rik	UTSW	6	38,135,026 (GRCm39)	missense	possibly damaging	0.88
R2926:D630045J12Rik	UTSW	6	38,145,106 (GRCm39)	missense	probably damaging	1.00
R3768:D630045J12Rik	UTSW	6	38,119,844 (GRCm39)	missense	probably damaging	1.00
R3886:D630045J12Rik	UTSW	6	38,119,633 (GRCm39)	missense	possibly damaging	0.90
R4439:D630045J12Rik	UTSW	6	38,171,696 (GRCm39)	missense	probably benign	0.07
R4688:D630045J12Rik	UTSW	6	38,173,592 (GRCm39)	missense	possibly damaging	0.85
R4739:D630045J12Rik	UTSW	6	38,172,971 (GRCm39)	missense	possibly damaging	0.76
R4748:D630045J12Rik	UTSW	6	38,173,776 (GRCm39)	missense	possibly damaging	0.91
R4792:D630045J12Rik	UTSW	6	38,125,275 (GRCm39)	missense	probably damaging	1.00
R4794:D630045J12Rik	UTSW	6	38,171,420 (GRCm39)	missense	possibly damaging	0.90
R4947:D630045J12Rik	UTSW	6	38,125,478 (GRCm39)	missense	probably damaging	1.00
R4959:D630045J12Rik	UTSW	6	38,125,302 (GRCm39)	missense	possibly damaging	0.81
R4973:D630045J12Rik	UTSW	6	38,125,302 (GRCm39)	missense	possibly damaging	0.81
R5261:D630045J12Rik	UTSW	6	38,171,555 (GRCm39)	missense	probably benign
R5344:D630045J12Rik	UTSW	6	38,135,163 (GRCm39)	missense	probably damaging	1.00
R5488:D630045J12Rik	UTSW	6	38,173,782 (GRCm39)	missense	possibly damaging	0.85
R5489:D630045J12Rik	UTSW	6	38,173,782 (GRCm39)	missense	possibly damaging	0.85
R5605:D630045J12Rik	UTSW	6	38,168,699 (GRCm39)	missense	probably damaging	1.00
R5828:D630045J12Rik	UTSW	6	38,173,302 (GRCm39)	missense	possibly damaging	0.47
R5831:D630045J12Rik	UTSW	6	38,119,592 (GRCm39)	missense	possibly damaging	0.80
R5939:D630045J12Rik	UTSW	6	38,171,904 (GRCm39)	missense	possibly damaging	0.70
R6021:D630045J12Rik	UTSW	6	38,167,552 (GRCm39)	missense	probably benign	0.05
R6060:D630045J12Rik	UTSW	6	38,107,799 (GRCm39)	missense	probably damaging	1.00
R6081:D630045J12Rik	UTSW	6	38,119,633 (GRCm39)	missense	probably damaging	0.99
R6498:D630045J12Rik	UTSW	6	38,124,132 (GRCm39)	nonsense	probably null
R6930:D630045J12Rik	UTSW	6	38,135,151 (GRCm39)	missense	probably damaging	1.00
R7019:D630045J12Rik	UTSW	6	38,171,570 (GRCm39)	missense	probably benign	0.12
R7156:D630045J12Rik	UTSW	6	38,171,964 (GRCm39)	missense	possibly damaging	0.91
R7248:D630045J12Rik	UTSW	6	38,145,198 (GRCm39)	missense	probably damaging	1.00
R7249:D630045J12Rik	UTSW	6	38,113,885 (GRCm39)	missense	possibly damaging	0.95
R7250:D630045J12Rik	UTSW	6	38,119,546 (GRCm39)	missense	possibly damaging	0.80
R7376:D630045J12Rik	UTSW	6	38,151,238 (GRCm39)	missense	probably damaging	0.99
R7491:D630045J12Rik	UTSW	6	38,119,601 (GRCm39)	missense	possibly damaging	0.89
R7552:D630045J12Rik	UTSW	6	38,125,383 (GRCm39)	missense	probably damaging	0.99
R7560:D630045J12Rik	UTSW	6	38,173,562 (GRCm39)	missense	possibly damaging	0.72
R7593:D630045J12Rik	UTSW	6	38,172,429 (GRCm39)	missense	possibly damaging	0.93
R7624:D630045J12Rik	UTSW	6	38,126,498 (GRCm39)	missense	probably damaging	1.00
R7654:D630045J12Rik	UTSW	6	38,154,636 (GRCm39)	missense	probably damaging	1.00
R8159:D630045J12Rik	UTSW	6	38,105,410 (GRCm39)	missense	probably damaging	0.99
R8167:D630045J12Rik	UTSW	6	38,167,484 (GRCm39)	critical splice donor site	probably null
R8189:D630045J12Rik	UTSW	6	38,135,106 (GRCm39)	missense	probably damaging	1.00
R8260:D630045J12Rik	UTSW	6	38,119,846 (GRCm39)	critical splice acceptor site	probably null
R8270:D630045J12Rik	UTSW	6	38,167,658 (GRCm39)	nonsense	probably null
R8331:D630045J12Rik	UTSW	6	38,125,409 (GRCm39)	missense	probably damaging	1.00
R8363:D630045J12Rik	UTSW	6	38,125,376 (GRCm39)	missense	probably damaging	1.00
R8365:D630045J12Rik	UTSW	6	38,172,570 (GRCm39)	missense	probably benign
R8492:D630045J12Rik	UTSW	6	38,167,525 (GRCm39)	missense	probably damaging	1.00
R8560:D630045J12Rik	UTSW	6	38,126,649 (GRCm39)	missense	probably damaging	1.00
R8987:D630045J12Rik	UTSW	6	38,173,898 (GRCm39)	missense	probably benign	0.11
R9052:D630045J12Rik	UTSW	6	38,154,544 (GRCm39)	missense	probably damaging	1.00
R9264:D630045J12Rik	UTSW	6	38,135,173 (GRCm39)	missense	probably benign	0.26
R9273:D630045J12Rik	UTSW	6	38,167,512 (GRCm39)	missense	possibly damaging	0.88
R9431:D630045J12Rik	UTSW	6	38,173,814 (GRCm39)	missense	probably benign	0.37

Posted On

2012-04-20