Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02238:D630045J12Rik'

285991

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 #

IGL02238

Quality Score

Status

Chromosome

Chromosomal Location

38100109-38230944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38173329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 280 (M280L)

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: M139L

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

SMART Domains

Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: M139L

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: M280L

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

SMART Domains

Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: M280L

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,995,829 (GRCm39)	I1322N	probably benign	Het
Adamts1	A	T	16: 85,592,713 (GRCm39)	M565K	probably benign	Het
Akr1b7	T	A	6: 34,392,333 (GRCm39)	Y49N	probably damaging	Het
Cacna2d2	T	A	9: 107,390,757 (GRCm39)	V363E	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh10	C	T	15: 19,013,605 (GRCm39)	T735I	probably damaging	Het
Cds1	T	A	5: 101,962,302 (GRCm39)	C306S	possibly damaging	Het
Cfap251	T	C	5: 123,440,486 (GRCm39)	Y1091H	probably damaging	Het
Clasp2	T	C	9: 113,709,088 (GRCm39)	C644R	probably damaging	Het
Coil	T	C	11: 88,872,580 (GRCm39)	S314P	probably benign	Het
Dmxl2	C	T	9: 54,352,717 (GRCm39)	V795M	probably damaging	Het
Dock10	A	G	1: 80,511,510 (GRCm39)	V1533A	probably damaging	Het
Fbxo40	T	C	16: 36,789,536 (GRCm39)	N525D	possibly damaging	Het
Fezf2	T	C	14: 12,344,494 (GRCm38)	E231G	probably damaging	Het
Fmn1	T	C	2: 113,412,470 (GRCm39)	V870A	possibly damaging	Het
Ifi44	A	G	3: 151,438,019 (GRCm39)	*423Q	probably null	Het
Invs	T	C	4: 48,390,029 (GRCm39)	V173A	probably damaging	Het
Krt88	A	G	15: 101,350,486 (GRCm39)		probably benign	Het
Mctp2	A	T	7: 71,739,953 (GRCm39)	Y812*	probably null	Het
Neto2	T	C	8: 86,396,292 (GRCm39)	I118V	probably damaging	Het
Nutm2	T	G	13: 50,625,075 (GRCm39)	M264R	probably damaging	Het
Or2d2	A	G	7: 106,728,244 (GRCm39)	S119P	probably damaging	Het
Or8u8	T	C	2: 86,011,939 (GRCm39)		probably null	Het
Pcnx1	G	A	12: 81,964,688 (GRCm39)	R285Q	probably damaging	Het
Pi16	G	T	17: 29,545,269 (GRCm39)	K177N	probably damaging	Het
Pigg	C	T	5: 108,466,794 (GRCm39)	S225F	possibly damaging	Het
Prrc2b	T	A	2: 32,103,429 (GRCm39)	V969E	probably damaging	Het
Rab4b	A	C	7: 26,872,154 (GRCm39)	Y189D	probably benign	Het
Ran	A	G	5: 129,099,246 (GRCm39)	N143D	possibly damaging	Het
Rfc4	A	T	16: 22,933,219 (GRCm39)	F286L	probably damaging	Het
Sel1l2	T	C	2: 140,089,859 (GRCm39)	Y418C	probably damaging	Het
Slc13a1	T	C	6: 24,103,482 (GRCm39)	I354V	probably benign	Het
Slc7a2	A	T	8: 41,361,193 (GRCm39)	T386S	probably benign	Het
Tm2d2	G	T	8: 25,512,787 (GRCm39)	V212F	probably benign	Het
Tmem247	A	T	17: 87,225,721 (GRCm39)	N54Y	probably damaging	Het
Txnrd3	T	A	6: 89,633,117 (GRCm39)	Y206N	probably benign	Het
Uba5	T	C	9: 103,931,259 (GRCm39)		probably benign	Het
Vmn2r54	A	G	7: 12,369,910 (GRCm39)	L51P	probably damaging	Het
Zfp735	A	G	11: 73,601,319 (GRCm39)	K88E	probably benign	Het

Other mutations in D630045J12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:D630045J12Rik	APN	6	38,171,865 (GRCm39)	missense	probably benign	0.03
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
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

2015-04-16