Mutagenetix > Incidental Mutation

Incidental Mutation 'R0396:D630045J12Rik'

32033

Institutional Source

Beutler Lab

Gene Symbol

D630045J12Rik

Ensembl Gene

ENSMUSG00000063455

Gene Name

RIKEN cDNA D630045J12 gene

Synonyms

MMRRC Submission

038602-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0396 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38123174-38254009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38196736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 166 (S166G)

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: S25G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: S25G

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: S166G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: S166G

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

0.0928

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

92% (96/104)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,268,377	V467A	possibly damaging	Het
4933405L10Rik	G	A	8: 105,709,780	V194I	probably benign	Het
Acsm1	A	T	7: 119,636,455	I133F	probably damaging	Het
Adamts9	T	A	6: 92,798,005	T1676S	probably benign	Het
Adcy4	T	C	14: 55,772,288	D769G	probably benign	Het
Aif1	T	C	17: 35,171,109	*148W	probably null	Het
Akna	C	T	4: 63,392,126		probably benign	Het
Arhgap32	G	A	9: 32,245,255		probably null	Het
Atpaf1	G	A	4: 115,785,252	E92K	possibly damaging	Het
C1s1	T	C	6: 124,533,354	E378G	probably benign	Het
Caprin1	T	A	2: 103,769,569	Q108L	probably damaging	Het
Car13	A	T	3: 14,656,239	H154L	probably benign	Het
Cdon	C	A	9: 35,470,130	N605K	probably damaging	Het
Ceacam10	G	A	7: 24,781,014	G70E	probably damaging	Het
Cfap221	G	A	1: 119,954,200	T286M	probably benign	Het
Cfap61	T	C	2: 145,949,944	F107S	possibly damaging	Het
Coil	C	A	11: 88,981,623	T270N	probably benign	Het
Crocc2	T	G	1: 93,224,214		probably benign	Het
Crot	T	C	5: 8,969,959	E461G	probably damaging	Het
D130052B06Rik	G	T	11: 33,623,391	R41L	unknown	Het
Dennd4a	T	G	9: 64,862,391	V460G	probably damaging	Het
Depdc7	A	T	2: 104,727,323		probably benign	Het
Dgkb	G	A	12: 38,190,135		probably null	Het
Dhx57	T	G	17: 80,274,797	S407R	probably benign	Het
Dnase2a	G	T	8: 84,909,763		probably benign	Het
Dqx1	T	G	6: 83,059,005	M106R	probably benign	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Ephx2	T	G	14: 66,108,063	I151L	probably benign	Het
Gdf3	C	T	6: 122,607,135	G91D	probably damaging	Het
Gm14124	G	A	2: 150,268,053	G221D	probably damaging	Het
Gpc5	T	A	14: 115,428,208	N481K	possibly damaging	Het
Gsdme	T	A	6: 50,221,107	H291L	probably benign	Het
H2-Bl	A	G	17: 36,083,722	I103T	possibly damaging	Het
Hif3a	G	A	7: 17,052,021		probably benign	Het
Hmox2	A	T	16: 4,765,763	I232L	probably benign	Het
Itgb2	A	G	10: 77,561,189	Y686C	probably damaging	Het
Jmjd1c	A	G	10: 67,219,523	T528A	possibly damaging	Het
Kdr	T	C	5: 75,960,728	I541V	possibly damaging	Het
Khdrbs2	C	A	1: 32,519,973	V343L	probably damaging	Het
Kif16b	C	T	2: 142,853,659	R175H	probably damaging	Het
Klri2	T	G	6: 129,740,288	E44A	possibly damaging	Het
Kmt2b	G	T	7: 30,576,755	T1773K	probably damaging	Het
Lair1	A	G	7: 4,010,786	L154P	probably damaging	Het
Larp1b	G	A	3: 40,970,561	V158M	probably damaging	Het
Lgi3	T	A	14: 70,534,840	I275N	probably damaging	Het
Lrba	A	G	3: 86,295,179	N246D	probably damaging	Het
Lrrc45	T	A	11: 120,714,907		probably benign	Het
Mdh2	G	T	5: 135,789,679	V263L	probably benign	Het
Myom1	T	A	17: 71,034,693	V149E	probably damaging	Het
Nanos1	A	T	19: 60,757,041	D259V	probably damaging	Het
Nedd4l	T	A	18: 65,161,654		probably benign	Het
Npas3	A	G	12: 53,831,745	Y150C	probably damaging	Het
Olfr1066	T	C	2: 86,456,019	N84S	possibly damaging	Het
Olfr1129	T	A	2: 87,575,567	V161D	possibly damaging	Het
Olfr1392	A	T	11: 49,293,338	I6F	probably benign	Het
Olfr479	A	T	7: 108,055,963	H327L	probably benign	Het
Olfr672	G	A	7: 104,996,706	A66V	probably damaging	Het
Olfr93	C	T	17: 37,151,555	C139Y	probably damaging	Het
Pde4c	A	G	8: 70,750,076	N637S	probably benign	Het
Pds5b	T	A	5: 150,779,275	V824D	possibly damaging	Het
Pole2	A	T	12: 69,222,386		probably benign	Het
Ppig	C	T	2: 69,735,976		probably benign	Het
Prep	A	G	10: 45,092,676	Y90C	probably damaging	Het
Proca1	A	T	11: 78,194,905	R11S	probably damaging	Het
Prph	T	A	15: 99,056,991	W313R	probably benign	Het
Prune2	C	T	19: 17,123,080	P1983S	probably benign	Het
Ptbp2	G	A	3: 119,724,198		probably benign	Het
Rsph6a	C	T	7: 19,074,106	P398L	probably damaging	Het
Sdk2	T	C	11: 113,829,967	I1379V	probably benign	Het
Sf3b1	C	T	1: 55,019,271	G53E	probably damaging	Het
Slc9a3	T	C	13: 74,157,784		probably null	Het
Smarcal1	A	T	1: 72,626,473	H710L	probably benign	Het
Soat2	GAGAAG	GAG	15: 102,150,707		probably benign	Het
Sptan1	T	C	2: 29,991,033	V438A	probably damaging	Het
Sstr4	T	A	2: 148,396,261	V264D	probably damaging	Het
Susd2	A	G	10: 75,639,911	L418P	probably damaging	Het
Synj1	A	G	16: 90,938,640	V1475A	probably benign	Het
Szt2	G	A	4: 118,376,347		probably benign	Het
Tbc1d4	T	C	14: 101,458,063		probably null	Het
Tesk1	A	G	4: 43,446,000	E311G	probably damaging	Het
Tmed5	A	T	5: 108,126,016	V119E	probably damaging	Het
Tmem260	T	C	14: 48,486,867	S201P	possibly damaging	Het
Tnxb	A	G	17: 34,671,733	Y350C	probably damaging	Het
Tpte	T	C	8: 22,335,608		probably benign	Het
Trim37	A	T	11: 87,146,968	D161V	probably damaging	Het
Trrap	C	A	5: 144,814,556	Q1640K	probably damaging	Het
Tspoap1	T	C	11: 87,776,346		probably benign	Het
Ttk	T	A	9: 83,847,260		probably benign	Het
Vmn1r172	A	G	7: 23,660,532	S281G	probably benign	Het
Vmn1r177	A	G	7: 23,865,597	S285P	probably damaging	Het
Vmn1r231	C	T	17: 20,890,399	V85I	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r118	T	C	17: 55,608,643	I436V	probably benign	Het
Vmn2r12	T	C	5: 109,092,899	K116R	probably benign	Het
Vmn2r28	T	A	7: 5,488,514	I245L	probably benign	Het
Wdr26	A	T	1: 181,180,651		probably benign	Het
Xrcc3	A	T	12: 111,809,957	H67Q	probably benign	Het
Zbbx	A	T	3: 75,078,495	S417T	possibly damaging	Het
Zc3h13	A	G	14: 75,323,482	D504G	unknown	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zyg11b	A	T	4: 108,255,308	F388I	probably 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
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
R4794:D630045J12Rik	UTSW	6	38194485	missense	possibly damaging	0.90
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'- ATGATGCCCTCAGACGTGAGAAAAG -3'
(R):5'- TTATCAGAGACTGTTCCCAGGTCCC -3'

Sequencing Primer
(F):5'- AGCTGACCAAGAAGTGCC -3'
(R):5'- GCGACAGCTTTTGATACAGC -3'

Posted On

2013-04-24