Incidental Mutation 'R1969:D630045J12Rik'
ID 219444
Institutional Source Beutler Lab
Gene Symbol D630045J12Rik
Ensembl Gene ENSMUSG00000063455
Gene Name RIKEN cDNA D630045J12 gene
Synonyms
MMRRC Submission 039982-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1969 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 38100109-38230944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38145078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1316 (D1316G)
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: D1175G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: D1175G

DomainStartEndE-ValueType
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: D1316G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: D1316G

DomainStartEndE-ValueType
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 0.4302 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T C 19: 21,575,609 (GRCm39) probably benign Het
Apoh G A 11: 108,298,288 (GRCm39) R196Q probably benign Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
B4galnt4 T C 7: 140,644,761 (GRCm39) F194L probably benign Het
BC034090 A T 1: 155,100,972 (GRCm39) L431M possibly damaging Het
Bdh2 G T 3: 134,994,040 (GRCm39) A31S probably damaging Het
Brd10 C T 19: 29,694,075 (GRCm39) S1873N possibly damaging Het
Cacna1s T C 1: 136,046,833 (GRCm39) S1821P probably benign Het
Caskin1 A T 17: 24,725,824 (GRCm39) Q1370L possibly damaging Het
Ccdc83 T A 7: 89,893,362 (GRCm39) S132C probably damaging Het
Cdk15 A T 1: 59,370,110 (GRCm39) H384L probably damaging Het
Col24a1 T C 3: 145,020,691 (GRCm39) I354T probably benign Het
Coro7 T C 16: 4,451,620 (GRCm39) I451V probably benign Het
Ctnna2 T C 6: 77,735,483 (GRCm39) E65G probably damaging Het
Ctsll3 A T 13: 60,948,162 (GRCm39) W172R probably benign Het
Ddx19b C T 8: 111,734,890 (GRCm39) A493T probably benign Het
Ddx4 C T 13: 112,736,547 (GRCm39) V608I probably damaging Het
Ddx4 T A 13: 112,757,276 (GRCm39) H348L probably damaging Het
Dnah17 G C 11: 117,995,361 (GRCm39) Q996E probably benign Het
Dnah9 G C 11: 65,739,197 (GRCm39) N4180K probably damaging Het
Dok7 A G 5: 35,234,610 (GRCm39) probably null Het
Dpf3 T A 12: 83,371,809 (GRCm39) probably null Het
Efcab3 A G 11: 104,637,090 (GRCm39) I988M probably damaging Het
Elfn1 G C 5: 139,958,604 (GRCm39) R536P probably damaging Het
Eml6 A G 11: 29,783,075 (GRCm39) V602A probably benign Het
Enpp2 T C 15: 54,746,378 (GRCm39) D296G probably damaging Het
Evi5 A T 5: 107,896,230 (GRCm39) F738I probably benign Het
Eya2 T C 2: 165,558,039 (GRCm39) S212P probably benign Het
Fam83a T C 15: 57,849,498 (GRCm39) L14P probably damaging Het
Fanca A T 8: 124,014,803 (GRCm39) M735K probably benign Het
Fancm T A 12: 65,148,466 (GRCm39) S694T probably benign Het
Fibcd1 G A 2: 31,706,673 (GRCm39) T386I probably damaging Het
Foxd4 A G 19: 24,877,178 (GRCm39) S341P probably benign Het
Foxp4 C T 17: 48,186,796 (GRCm39) R378Q unknown Het
Fryl A T 5: 73,255,609 (GRCm39) S807R probably benign Het
Fscb T C 12: 64,520,008 (GRCm39) E486G unknown Het
Galnt17 A G 5: 131,179,782 (GRCm39) S122P probably benign Het
Ghitm A G 14: 36,853,586 (GRCm39) F85L probably benign Het
Ghrh C A 2: 157,175,386 (GRCm39) V32L probably benign Het
Gli2 C T 1: 118,765,430 (GRCm39) R907H probably benign Het
Gm28042 A G 2: 119,872,096 (GRCm39) *1015W probably null Het
Gpr179 T C 11: 97,228,784 (GRCm39) T1124A probably benign Het
Grid2 C A 6: 63,885,902 (GRCm39) C99* probably null Het
Grin1 A T 2: 25,187,927 (GRCm39) M523K probably benign Het
Gucy2g T C 19: 55,211,328 (GRCm39) Y634C possibly damaging Het
Gucy2g T G 19: 55,221,485 (GRCm39) T339P probably benign Het
Haus6 A T 4: 86,522,483 (GRCm39) L116H probably damaging Het
Hey1 T C 3: 8,731,879 (GRCm39) T18A probably benign Het
Hipk3 T C 2: 104,264,186 (GRCm39) N792D probably damaging Het
Il19 A T 1: 130,866,893 (GRCm39) L29Q probably damaging Het
Il21r A G 7: 125,228,144 (GRCm39) Q205R probably damaging Het
Kcnip2 T C 19: 45,782,122 (GRCm39) D169G probably null Het
Kctd18 T C 1: 58,006,779 (GRCm39) I24V probably benign Het
Lcp1 T C 14: 75,437,946 (GRCm39) S119P probably damaging Het
Lig3 G C 11: 82,686,544 (GRCm39) D642H probably benign Het
Lrba A G 3: 86,515,696 (GRCm39) K2166E probably damaging Het
Lrrn2 T C 1: 132,866,972 (GRCm39) V679A probably benign Het
Lyst G A 13: 13,904,929 (GRCm39) R3202H probably damaging Het
Micall2 A G 5: 139,721,885 (GRCm39) C11R probably damaging Het
Morc2b T G 17: 33,356,065 (GRCm39) Q569P probably benign Het
Mtrf1 A G 14: 79,639,111 (GRCm39) E81G probably damaging Het
Myh2 G T 11: 67,080,004 (GRCm39) S1099I possibly damaging Het
Nap1l1 T A 10: 111,326,914 (GRCm39) D158E probably benign Het
Nckap5l T A 15: 99,320,699 (GRCm39) T1285S probably damaging Het
Nsrp1 A T 11: 76,936,612 (GRCm39) M528K probably damaging Het
Numa1 C T 7: 101,658,529 (GRCm39) A1605V probably damaging Het
Nutm2 T C 13: 50,627,878 (GRCm39) L453P probably damaging Het
Ofd1 T C X: 165,210,210 (GRCm39) Y205C probably benign Het
Or2ag12 T A 7: 106,276,877 (GRCm39) N272I probably damaging Het
Or2n1c A G 17: 38,519,355 (GRCm39) Y73C probably damaging Het
Or4c125 T A 2: 89,170,640 (GRCm39) N2I probably damaging Het
Or52k2 A T 7: 102,253,777 (GRCm39) D72V probably damaging Het
Or7a40 T A 16: 16,491,447 (GRCm39) M133L probably benign Het
Patl1 T C 19: 11,898,782 (GRCm39) L159P probably benign Het
Paxip1 G A 5: 27,949,134 (GRCm39) T1045I probably damaging Het
Phaf1 T A 8: 105,973,132 (GRCm39) D247E possibly damaging Het
Pik3ca A G 3: 32,505,903 (GRCm39) probably null Het
Pkhd1 T A 1: 20,451,747 (GRCm39) I2183F probably damaging Het
Plec C T 15: 76,073,372 (GRCm39) R319H probably damaging Het
Pnkd G A 1: 74,391,008 (GRCm39) G334D probably damaging Het
Prss50 A G 9: 110,691,449 (GRCm39) Y251C probably damaging Het
Rab11b A T 17: 33,979,209 (GRCm39) Y10N probably damaging Het
Rfc1 G A 5: 65,476,867 (GRCm39) R4W probably damaging Het
Rgs19 A T 2: 181,331,276 (GRCm39) F119Y probably damaging Het
Safb A G 17: 56,912,821 (GRCm39) H883R probably benign Het
Serpine1 G A 5: 137,096,601 (GRCm39) Q227* probably null Het
Slc25a13 A G 6: 6,096,668 (GRCm39) probably null Het
Slc6a18 T A 13: 73,812,308 (GRCm39) T502S possibly damaging Het
Sox4 T C 13: 29,136,631 (GRCm39) D125G probably damaging Het
Spata31d1e T C 13: 59,890,599 (GRCm39) D407G probably damaging Het
Stag3 C T 5: 138,298,400 (GRCm39) T731I probably damaging Het
Thada G T 17: 84,617,470 (GRCm39) P1349T probably damaging Het
Tmem245 C A 4: 56,937,964 (GRCm39) V195F probably benign Het
Tnxb A G 17: 34,898,055 (GRCm39) H901R probably benign Het
Trim39 A T 17: 36,579,645 (GRCm39) D103E probably benign Het
Ttn A T 2: 76,562,304 (GRCm39) V28847E probably damaging Het
Tubb1 A T 2: 174,297,484 (GRCm39) D31V possibly damaging Het
Ush1g A G 11: 115,209,280 (GRCm39) S305P probably damaging Het
Vmn1r191 A T 13: 22,362,952 (GRCm39) N267K possibly damaging Het
Vmn1r59 A T 7: 5,457,038 (GRCm39) Y241N probably damaging Het
Vmn2r49 T C 7: 9,720,235 (GRCm39) N419D probably damaging Het
Vps35 T C 8: 86,005,623 (GRCm39) D326G possibly damaging Het
Xdh A G 17: 74,199,746 (GRCm39) S1187P possibly damaging Het
Xpc A C 6: 91,478,007 (GRCm39) probably null Het
Zfp273 T C 13: 67,973,282 (GRCm39) Y104H probably damaging Het
Other mutations in D630045J12Rik
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCTACAGTAAACACACATGAGG -3'
(R):5'- GGTCACATTCTGTCCTGCAC -3'

Sequencing Primer
(F):5'- GACAGAGGATGCTGCCG -3'
(R):5'- CTGTCCTGCACGTGAATGAAGATC -3'
Posted On 2014-08-25