Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4472001:D630045J12Rik'

555858

Institutional Source

Beutler Lab

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 #

PIT4472001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38100109-38230944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38155774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1160 (V1160D)

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: V1019D

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

SMART Domains

Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: V1019D

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

probably damaging
Transcript: ENSMUST00000169256
AA Change: V1160D

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

SMART Domains

Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: V1160D

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: 93.7%
3x: 90.8%
10x: 84.2%
20x: 70.1%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,502,613 (GRCm39)	P258T	probably damaging	Het
Arvcf	T	C	16: 18,221,699 (GRCm39)	V714A	possibly damaging	Het
Bcas3	A	G	11: 85,422,726 (GRCm39)	I532V	probably damaging	Het
Cbr1	T	A	16: 93,406,692 (GRCm39)	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,126,184 (GRCm39)	M102V	unknown	Het
Ccr1	T	C	9: 123,763,765 (GRCm39)	Y255C	probably damaging	Het
Cd300e	T	A	11: 114,945,336 (GRCm39)	I153F	possibly damaging	Het
Chd7	C	T	4: 8,753,101 (GRCm39)	L533F	unknown	Het
Cpvl	A	T	6: 53,873,464 (GRCm39)	F424Y	possibly damaging	Het
Cxcl16	C	T	11: 70,349,625 (GRCm39)	G80R	probably damaging	Het
Cyp2g1	T	C	7: 26,513,619 (GRCm39)	V186A	probably benign	Het
Cyp4f15	T	A	17: 32,921,798 (GRCm39)	M490K	probably damaging	Het
Dennd2b	G	A	7: 109,130,337 (GRCm39)	A888V	probably damaging	Het
Fbn1	T	C	2: 125,148,421 (GRCm39)	D2609G	possibly damaging	Het
Fgf5	T	A	5: 98,409,838 (GRCm39)	V129E	probably damaging	Het
Fhl5	C	A	4: 25,211,194 (GRCm39)	C166F	probably damaging	Het
Frem1	G	A	4: 82,890,374 (GRCm39)	T1035I	probably benign	Het
Gcnt2	G	A	13: 41,071,413 (GRCm39)	V19M	probably benign	Het
Gga1	C	A	15: 78,777,836 (GRCm39)	A595D	probably damaging	Het
Gpaa1	C	T	15: 76,218,940 (GRCm39)	T594I	probably benign	Het
Gskip	C	T	12: 105,651,121 (GRCm39)		probably benign	Het
Ighv1-72	A	G	12: 115,721,620 (GRCm39)	V112A	probably damaging	Het
Krt16	T	A	11: 100,138,732 (GRCm39)	T185S	probably benign	Het
Lama1	T	C	17: 68,071,699 (GRCm39)	V862A		Het
Lats2	A	C	14: 57,936,814 (GRCm39)	Y558*	probably null	Het
Mast4	G	A	13: 102,941,226 (GRCm39)	T277M	probably damaging	Het
Mnx1	T	C	5: 29,679,105 (GRCm39)	E326G	unknown	Het
Mtmr10	A	G	7: 63,983,106 (GRCm39)	E471G	probably benign	Het
Or5p64	C	T	7: 107,855,310 (GRCm39)	V12M	possibly damaging	Het
Otog	G	A	7: 45,945,273 (GRCm39)	V2177M	probably damaging	Het
Ovgp1	A	G	3: 105,894,306 (GRCm39)	E693G	unknown	Het
Pclo	T	C	5: 14,763,182 (GRCm39)	M600T	possibly damaging	Het
Pdgfra	T	A	5: 75,340,907 (GRCm39)	M622K	probably damaging	Het
Pdxdc1	A	G	16: 13,663,209 (GRCm39)	L428P	probably damaging	Het
Pfkfb4	T	C	9: 108,828,222 (GRCm39)	Y86H	probably benign	Het
Pik3cg	A	G	12: 32,254,983 (GRCm39)	Y335H	probably damaging	Het
Podnl1	G	A	8: 84,854,477 (GRCm39)	V150M		Het
Pou4f3	A	G	18: 42,527,717 (GRCm39)	M4V	probably benign	Het
Ppp1r13b	G	A	12: 111,799,074 (GRCm39)	R864C	probably damaging	Het
R3hdm4	A	G	10: 79,749,389 (GRCm39)		probably null	Het
Skil	T	A	3: 31,152,381 (GRCm39)	V301D	probably damaging	Het
Sptb	G	A	12: 76,667,460 (GRCm39)	T879M	probably damaging	Het
Strip1	G	A	3: 107,535,486 (GRCm39)	A79V	probably benign	Het
Tpgs2	G	A	18: 25,301,652 (GRCm39)	T5M	possibly damaging	Het
Trim34a	T	A	7: 103,897,155 (GRCm39)	L73Q	probably damaging	Het
Trpv4	T	A	5: 114,764,984 (GRCm39)	T677S	probably damaging	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	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
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

Predicted Primers

PCR Primer
(F):5'- AGATTCTGCCCTGGAGTTGATG -3'
(R):5'- TAGTGCTATCGCGTAGGAAGG -3'

Sequencing Primer
(F):5'- TTCTGTGCCATAACCCAGCAGG -3'
(R):5'- TCGCGTAGGAAGGATAAAGTGTTATG -3'

Posted On

2019-06-07