Mutagenetix > Incidental Mutation

Incidental Mutation 'R2926:D630045J12Rik'

255755

Institutional Source

Beutler Lab

Gene Symbol

D630045J12Rik

Ensembl Gene

ENSMUSG00000063455

Gene Name

RIKEN cDNA D630045J12 gene

Synonyms

MMRRC Submission

040511-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38100109-38230944 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38145106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1307 (I1307F)

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: I1166F

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

SMART Domains

Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: I1166F

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

noncoding transcript
Transcript: ENSMUST00000152464

Predicted Effect

probably damaging
Transcript: ENSMUST00000169256
AA Change: I1307F

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

SMART Domains

Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: I1307F

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

Meta Mutation Damage Score

0.4184

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,216,902 (GRCm39)	S438R	possibly damaging	Het
Add3	A	G	19: 53,215,253 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,902,137 (GRCm39)	L506P	probably damaging	Het
Atp6v0a1	A	T	11: 100,934,774 (GRCm39)	I621L	probably damaging	Het
Calb1	T	G	4: 15,904,302 (GRCm39)	L218R	probably damaging	Het
Ccdc162	G	A	10: 41,437,203 (GRCm39)		probably benign	Het
Ccser2	A	T	14: 36,601,518 (GRCm39)	S842T	possibly damaging	Het
Cd300a	A	G	11: 114,784,139 (GRCm39)	E49G	possibly damaging	Het
Colec11	T	A	12: 28,667,428 (GRCm39)	Q37L	probably damaging	Het
Dapk1	T	C	13: 60,867,564 (GRCm39)	V257A	possibly damaging	Het
Dnah3	T	A	7: 119,550,338 (GRCm39)	N3327I	probably damaging	Het
Gja8	C	T	3: 96,826,469 (GRCm39)	V398I	probably benign	Het
Hfm1	A	T	5: 107,022,148 (GRCm39)	L179*	probably null	Het
Hsd3b9	A	G	3: 98,357,872 (GRCm39)		probably benign	Het
Ift88	T	C	14: 57,726,375 (GRCm39)	Y678H	probably damaging	Het
Itga10	A	G	3: 96,560,165 (GRCm39)	N560D	probably damaging	Het
Itpk1	G	T	12: 102,545,389 (GRCm39)	P238Q	probably damaging	Het
Kl	T	C	5: 150,876,806 (GRCm39)	W209R	probably damaging	Het
Lama4	A	G	10: 38,954,828 (GRCm39)	N1127S	probably benign	Het
Lrp1	C	T	10: 127,423,982 (GRCm39)	C830Y	probably damaging	Het
Mcmbp	G	A	7: 128,299,738 (GRCm39)		probably benign	Het
Mrps33	A	G	6: 39,782,438 (GRCm39)	S28P	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Myt1	C	T	2: 181,467,803 (GRCm39)	T1079M	possibly damaging	Het
N4bp1	A	T	8: 87,588,424 (GRCm39)	Y171*	probably null	Het
Ncln	G	T	10: 81,324,272 (GRCm39)	T442K	probably benign	Het
Nphp4	T	C	4: 152,602,596 (GRCm39)	V390A	probably damaging	Het
Ntrk2	C	A	13: 59,208,098 (GRCm39)	T648K	probably damaging	Het
Nwd1	A	G	8: 73,393,640 (GRCm39)	H301R	probably damaging	Het
Or4k5	A	T	14: 50,385,893 (GRCm39)	V146E	probably benign	Het
Pcdh12	T	C	18: 38,415,443 (GRCm39)	N561D	probably damaging	Het
Pcnx1	T	A	12: 82,041,769 (GRCm39)	S2134T	probably damaging	Het
Ppp1cc	G	A	5: 122,312,151 (GRCm39)	A306T	probably benign	Het
Pramel3e	G	T	X: 134,400,297 (GRCm39)	A96S	possibly damaging	Het
Prrc2c	C	T	1: 162,533,696 (GRCm39)		probably benign	Het
Rabggta	C	T	14: 55,956,747 (GRCm39)	R319H	probably benign	Het
Scn10a	A	C	9: 119,467,767 (GRCm39)	F791C	possibly damaging	Het
Stab1	T	A	14: 30,883,756 (GRCm39)	D267V	probably damaging	Het
Sva	A	T	6: 42,019,596 (GRCm39)	Y152F	possibly damaging	Het
Tgfbrap1	T	G	1: 43,114,789 (GRCm39)	M104L	probably damaging	Het
Tmed4	T	C	11: 6,221,728 (GRCm39)	T203A	probably benign	Het
Toe1	C	T	4: 116,662,177 (GRCm39)	A331T	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trpm7	T	C	2: 126,700,329 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,636,170 (GRCm39)	R438*	probably null	Het
Usp11	G	T	X: 20,584,031 (GRCm39)	G601W	probably damaging	Het
Vmn2r112	A	G	17: 22,833,984 (GRCm39)	T551A	possibly damaging	Het
Vmn2r73	T	C	7: 85,520,871 (GRCm39)	K366E	probably benign	Het
Vps33a	A	G	5: 123,707,634 (GRCm39)	I111T	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
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
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'- ATGCTGCCGAAAGACCAGAG -3'
(R):5'- AATGTGCCTGGTTGCTTTCC -3'

Sequencing Primer
(F):5'- GACCAGAGAGTTCTTTCAATGGTCC -3'
(R):5'- AGGGAGGTCACATTCTGTCC -3'

Posted On

2014-12-29