Mutagenetix > Incidental Mutations

Incidental Mutation 'R4794:D630045J12Rik'

368846

Institutional Source

Beutler Lab

Gene Symbol

D630045J12Rik

Ensembl Gene

ENSMUSG00000063455

Gene Name

RIKEN cDNA D630045J12 gene

Synonyms

MMRRC Submission

042420-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38123174-38254009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38194485 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 916 (T916I)

Ref Sequence

ENSEMBL: ENSMUSP00000130121 (fasta)

Gene Model

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

AlphaFold

Q68FD9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117556
AA Change: T775I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: T775I

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

possibly damaging
Transcript: ENSMUST00000169256
AA Change: T916I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: T916I

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,421,424	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,588,129	E537G	probably damaging	Het
Asic3	C	T	5: 24,415,897	A259V	probably damaging	Het
Bcar1	G	A	8: 111,720,920	Q142*	probably null	Het
Bcas3	T	C	11: 85,509,468	V200A	probably damaging	Het
Cd302	A	T	2: 60,272,149	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984	N387K	probably damaging	Het
Copa	T	A	1: 172,119,321	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,196,139	T1129S	probably benign	Het
Dnajb13	C	T	7: 100,503,992	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,885,337	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,870,177	Y114F	probably benign	Het
Epm2a	A	G	10: 11,390,853	D114G	probably benign	Het
Exoc5	T	C	14: 49,048,900		probably null	Het
Fam135a	G	A	1: 24,029,160	T706I	probably benign	Het
Fasn	A	G	11: 120,811,295	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,596	E255G	probably damaging	Het
Galnt7	A	T	8: 57,545,363	Y311N	probably damaging	Het
Gm13757	A	T	2: 88,446,347	M197K	probably benign	Het
Gm5724	A	G	6: 141,767,562	V31A	probably benign	Het
Gm8765	C	G	13: 50,703,239	P971R	probably benign	Het
Grid1	T	C	14: 34,822,622	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933	F331L	probably damaging	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kif1a	T	C	1: 93,025,727	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,756,679	F1022L	probably damaging	Het
Med16	G	T	10: 79,900,117	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,645,506		probably benign	Het
Myh7b	G	A	2: 155,623,266	V681I	probably benign	Het
Ndc1	A	G	4: 107,390,222	E409G	probably benign	Het
Necap2	A	G	4: 141,071,601		probably benign	Het
Olfr47	T	A	6: 43,235,695	L29H	probably damaging	Het
Olfr847	C	T	9: 19,375,545	S112N	probably benign	Het
Parp12	G	A	6: 39,117,810	T117I	probably benign	Het
Pars2	C	A	4: 106,654,210	C396*	probably null	Het
Prg4	A	T	1: 150,454,546		probably benign	Het
Prkg2	G	A	5: 98,966,633	T523I	probably damaging	Het
Prph	T	A	15: 99,057,427	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,414,076	Y549H	probably damaging	Het
Rbm12	A	T	2: 156,095,569		probably benign	Het
Reln	T	C	5: 22,344,185	Y75C	probably damaging	Het
Rock2	G	A	12: 16,940,407	R110H	probably damaging	Het
Samd1	G	A	8: 83,999,717	E468K	probably damaging	Het
Samd11	T	A	4: 156,249,465	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,365,726	G37V	probably damaging	Het
Sf1	C	A	19: 6,375,664		probably benign	Het
Slc17a5	T	A	9: 78,574,715	H183L	probably damaging	Het
Smgc	T	A	15: 91,841,454	S13T	probably benign	Het
Snapin	A	G	3: 90,490,785		probably benign	Het
Ssc5d	C	T	7: 4,943,745	P1033S	probably benign	Het
Strn3	T	C	12: 51,650,171	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,196,836	F238L	possibly damaging	Het
Tbck	G	A	3: 132,686,968	V57M	possibly damaging	Het
Tgm3	A	G	2: 130,041,955	D511G	probably benign	Het
Tlr5	T	C	1: 182,973,896	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,620,355		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,358,084	C168Y	probably damaging	Het
Tph2	G	T	10: 115,182,770	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,661,690		probably null	Het
Ttc14	A	T	3: 33,803,149	M215L	probably benign	Het
Ube3c	A	G	5: 29,597,085	N120S	probably benign	Het
Ubr2	A	T	17: 46,930,445	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,900,704	T318A	probably benign	Het
Washc2	T	C	6: 116,258,649	V941A	probably benign	Het
Wdfy3	A	G	5: 101,943,943	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,862,844	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,637,635	D537A	probably benign	Het
Zfp57	A	G	17: 37,010,130	N292S	possibly damaging	Het

Other mutations in D630045J12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:D630045J12Rik	APN	6	38194930	missense	probably benign	0.03
IGL01089:D630045J12Rik	APN	6	38136963	missense	probably benign
IGL01745:D630045J12Rik	APN	6	38191720	missense	probably damaging	0.99
IGL02069:D630045J12Rik	APN	6	38184072	missense	probably damaging	0.98
IGL02238:D630045J12Rik	APN	6	38196394	missense	probably benign
IGL02496:D630045J12Rik	APN	6	38149705	missense	probably damaging	1.00
IGL02675:D630045J12Rik	APN	6	38195485	missense	possibly damaging	0.93
IGL03030:D630045J12Rik	APN	6	38149713	missense	probably damaging	1.00
IGL03203:D630045J12Rik	APN	6	38168221	missense	probably damaging	0.98
IGL03205:D630045J12Rik	APN	6	38147259	missense	probably damaging	1.00
PIT4472001:D630045J12Rik	UTSW	6	38178839	missense	probably damaging	1.00
PIT4687001:D630045J12Rik	UTSW	6	38195101	missense	probably benign
R0021:D630045J12Rik	UTSW	6	38183967	nonsense	probably null
R0021:D630045J12Rik	UTSW	6	38183967	nonsense	probably null
R0128:D630045J12Rik	UTSW	6	38149771	splice site	probably benign
R0130:D630045J12Rik	UTSW	6	38149771	splice site	probably benign
R0206:D630045J12Rik	UTSW	6	38139450	missense	probably damaging	0.99
R0208:D630045J12Rik	UTSW	6	38139450	missense	probably damaging	0.99
R0347:D630045J12Rik	UTSW	6	38181392	missense	probably damaging	0.97
R0396:D630045J12Rik	UTSW	6	38196736	missense	possibly damaging	0.85
R0538:D630045J12Rik	UTSW	6	38191693	missense	probably damaging	1.00
R0636:D630045J12Rik	UTSW	6	38196778	missense	probably benign
R0842:D630045J12Rik	UTSW	6	38148465	missense	probably damaging	1.00
R1120:D630045J12Rik	UTSW	6	38194770	missense	probably damaging	0.96
R1323:D630045J12Rik	UTSW	6	38148508	missense	probably damaging	1.00
R1323:D630045J12Rik	UTSW	6	38148508	missense	probably damaging	1.00
R1412:D630045J12Rik	UTSW	6	38195760	missense	probably benign	0.03
R1546:D630045J12Rik	UTSW	6	38190655	missense	probably damaging	1.00
R1649:D630045J12Rik	UTSW	6	38181431	missense	probably damaging	0.98
R1704:D630045J12Rik	UTSW	6	38139427	missense	probably benign	0.14
R1969:D630045J12Rik	UTSW	6	38168143	missense	probably damaging	1.00
R1971:D630045J12Rik	UTSW	6	38168143	missense	probably damaging	1.00
R2182:D630045J12Rik	UTSW	6	38174147	critical splice donor site	probably null
R2354:D630045J12Rik	UTSW	6	38158091	missense	possibly damaging	0.88
R2926:D630045J12Rik	UTSW	6	38168171	missense	probably damaging	1.00
R3768:D630045J12Rik	UTSW	6	38142909	missense	probably damaging	1.00
R3886:D630045J12Rik	UTSW	6	38142698	missense	possibly damaging	0.90
R4439:D630045J12Rik	UTSW	6	38194761	missense	probably benign	0.07
R4688:D630045J12Rik	UTSW	6	38196657	missense	possibly damaging	0.85
R4739:D630045J12Rik	UTSW	6	38196036	missense	possibly damaging	0.76
R4748:D630045J12Rik	UTSW	6	38196841	missense	possibly damaging	0.91
R4792:D630045J12Rik	UTSW	6	38148340	missense	probably damaging	1.00
R4947:D630045J12Rik	UTSW	6	38148543	missense	probably damaging	1.00
R4959:D630045J12Rik	UTSW	6	38148367	missense	possibly damaging	0.81
R4973:D630045J12Rik	UTSW	6	38148367	missense	possibly damaging	0.81
R5261:D630045J12Rik	UTSW	6	38194620	missense	probably benign
R5344:D630045J12Rik	UTSW	6	38158228	missense	probably damaging	1.00
R5488:D630045J12Rik	UTSW	6	38196847	missense	possibly damaging	0.85
R5489:D630045J12Rik	UTSW	6	38196847	missense	possibly damaging	0.85
R5605:D630045J12Rik	UTSW	6	38191764	missense	probably damaging	1.00
R5828:D630045J12Rik	UTSW	6	38196367	missense	possibly damaging	0.47
R5831:D630045J12Rik	UTSW	6	38142657	missense	possibly damaging	0.80
R5939:D630045J12Rik	UTSW	6	38194969	missense	possibly damaging	0.70
R6021:D630045J12Rik	UTSW	6	38190617	missense	probably benign	0.05
R6060:D630045J12Rik	UTSW	6	38130864	missense	probably damaging	1.00
R6081:D630045J12Rik	UTSW	6	38142698	missense	probably damaging	0.99
R6498:D630045J12Rik	UTSW	6	38147197	nonsense	probably null
R6930:D630045J12Rik	UTSW	6	38158216	missense	probably damaging	1.00
R7019:D630045J12Rik	UTSW	6	38194635	missense	probably benign	0.12
R7156:D630045J12Rik	UTSW	6	38195029	missense	possibly damaging	0.91
R7248:D630045J12Rik	UTSW	6	38168263	missense	probably damaging	1.00
R7249:D630045J12Rik	UTSW	6	38136950	missense	possibly damaging	0.95
R7250:D630045J12Rik	UTSW	6	38142611	missense	possibly damaging	0.80
R7376:D630045J12Rik	UTSW	6	38174303	missense	probably damaging	0.99
R7491:D630045J12Rik	UTSW	6	38142666	missense	possibly damaging	0.89
R7552:D630045J12Rik	UTSW	6	38148448	missense	probably damaging	0.99
R7560:D630045J12Rik	UTSW	6	38196627	missense	possibly damaging	0.72
R7593:D630045J12Rik	UTSW	6	38195494	missense	possibly damaging	0.93
R7624:D630045J12Rik	UTSW	6	38149563	missense	probably damaging	1.00
R7654:D630045J12Rik	UTSW	6	38177701	missense	probably damaging	1.00
R8159:D630045J12Rik	UTSW	6	38128475	missense	probably damaging	0.99
R8167:D630045J12Rik	UTSW	6	38190549	critical splice donor site	probably null
R8189:D630045J12Rik	UTSW	6	38158171	missense	probably damaging	1.00
R8260:D630045J12Rik	UTSW	6	38142911	critical splice acceptor site	probably null
R8270:D630045J12Rik	UTSW	6	38190723	nonsense	probably null
R8331:D630045J12Rik	UTSW	6	38148474	missense	probably damaging	1.00
R8363:D630045J12Rik	UTSW	6	38148441	missense	probably damaging	1.00
R8365:D630045J12Rik	UTSW	6	38195635	missense	probably benign
R8492:D630045J12Rik	UTSW	6	38190590	missense	probably damaging	1.00
R8560:D630045J12Rik	UTSW	6	38149714	missense	probably damaging	1.00
R8987:D630045J12Rik	UTSW	6	38196963	missense	probably benign	0.11
R9052:D630045J12Rik	UTSW	6	38177609	missense	probably damaging	1.00
R9264:D630045J12Rik	UTSW	6	38158238	missense	probably benign	0.26
R9273:D630045J12Rik	UTSW	6	38190577	missense	possibly damaging	0.88
R9431:D630045J12Rik	UTSW	6	38196879	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TTATGTGAGGCCAACACCTACTC -3'
(R):5'- TTGACATCCACAGATTTCCCGC -3'

Sequencing Primer
(F):5'- ACAATGGTGTCCTGTAATTCTGCAC -3'
(R):5'- CAGATTTCCCGCCCAGTAC -3'

Posted On

2016-02-04