Mutagenetix > Incidental Mutation

Incidental Mutation 'R0842:D630045J12Rik'

77204

Institutional Source

Beutler Lab

Gene Symbol

D630045J12Rik

Ensembl Gene

ENSMUSG00000063455

Gene Name

RIKEN cDNA D630045J12 gene

Synonyms

MMRRC Submission

039021-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38100109-38230944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38125400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1538 (V1538E)

Ref Sequence

ENSEMBL: ENSMUSP00000130121 (fasta)

Gene Model

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

AlphaFold

Q68FD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000117556
AA Change: V1397E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: V1397E

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: V1538E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: V1538E

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

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 95.0%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl8	C	A	9: 21,746,972 (GRCm39)	Y53*	probably null	Het
Apbb1ip	G	A	2: 22,757,678 (GRCm39)	R432Q	possibly damaging	Het
Catsperb	A	T	12: 101,429,307 (GRCm39)	Q160L	probably damaging	Het
Cdhr18	G	A	14: 13,856,686 (GRCm38)	S475L	probably benign	Het
Cilp2	T	C	8: 70,335,768 (GRCm39)	Y410C	probably damaging	Het
Cntnap5a	G	A	1: 116,369,953 (GRCm39)	G857S	probably damaging	Het
Dnah7a	A	G	1: 53,540,833 (GRCm39)	S2514P	possibly damaging	Het
Eme1	C	T	11: 94,541,700 (GRCm39)	A41T	probably benign	Het
F11	T	C	8: 45,705,196 (GRCm39)	Y115C	probably damaging	Het
Fap	A	T	2: 62,367,345 (GRCm39)	W313R	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Ggt6	T	A	11: 72,328,088 (GRCm39)	L158*	probably null	Het
Herc2	A	C	7: 55,771,453 (GRCm39)	I1072L	probably benign	Het
Hhat	T	C	1: 192,408,639 (GRCm39)	N164S	probably benign	Het
Klrb1	A	G	6: 128,687,008 (GRCm39)		probably null	Het
L3mbtl4	T	A	17: 68,793,957 (GRCm39)	D320E	probably benign	Het
Lyst	C	A	13: 13,852,826 (GRCm39)	Y2275*	probably null	Het
Map4k3	T	C	17: 80,913,412 (GRCm39)	N611S	probably benign	Het
Morc3	T	C	16: 93,670,284 (GRCm39)		probably null	Het
Mtr	A	C	13: 12,215,133 (GRCm39)	Y864D	probably damaging	Het
Myh2	C	T	11: 67,070,350 (GRCm39)	A431V	possibly damaging	Het
Myo9a	C	A	9: 59,778,350 (GRCm39)	Q1369K	probably benign	Het
Nalf1	T	A	8: 9,820,114 (GRCm39)	D302V	probably benign	Het
Nat3	T	C	8: 68,000,649 (GRCm39)	I176T	probably benign	Het
Ncapd3	C	T	9: 26,948,380 (GRCm39)	T54I	probably benign	Het
Nfyc	C	A	4: 120,616,574 (GRCm39)	E281D	probably benign	Het
Nlrp14	A	G	7: 106,782,342 (GRCm39)	D513G	probably benign	Het
Pacsin2	T	C	15: 83,263,382 (GRCm39)	E83G	probably damaging	Het
Plagl1	G	T	10: 13,004,298 (GRCm39)		probably benign	Het
Pmpcb	T	C	5: 21,953,772 (GRCm39)	L340P	possibly damaging	Het
Pou2af3	T	C	9: 51,183,668 (GRCm39)	E102G	probably benign	Het
Pou2f2	A	T	7: 24,796,355 (GRCm39)	L364Q	probably damaging	Het
Rab1b	A	T	19: 5,154,697 (GRCm39)	I84N	probably damaging	Het
Ric3	T	C	7: 108,638,087 (GRCm39)	Y222C	probably damaging	Het
Samhd1	A	G	2: 156,965,251 (GRCm39)	V188A	probably damaging	Het
Socs4	T	A	14: 47,527,426 (GRCm39)	H107Q	probably damaging	Het
Tex15	T	A	8: 34,061,575 (GRCm39)	I335K	possibly damaging	Het
Thoc2l	T	A	5: 104,667,066 (GRCm39)	N529K	possibly damaging	Het
Thop1	C	A	10: 80,911,411 (GRCm39)	T99K	probably damaging	Het
Tnik	A	G	3: 28,648,235 (GRCm39)	E429G	possibly damaging	Het
Vmn2r106	T	A	17: 20,488,465 (GRCm39)	I645F	probably damaging	Het
Zscan29	T	A	2: 120,991,960 (GRCm39)	R609S	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCATGCCCAGTGTCTTGCCTG -3'
(R):5'- TAATGGATGGATGGCTTCCTGCCAC -3'

Sequencing Primer
(F):5'- AGTGTCTTGCCTGCCTGTC -3'
(R):5'- CTCAGTAGGCAGTGGCCTTTC -3'

Posted On

2013-10-16