Incidental Mutation 'R8331:D630045J12Rik'
ID 644356
Institutional Source Beutler Lab
Gene Symbol D630045J12Rik
Ensembl Gene ENSMUSG00000063455
Gene Name RIKEN cDNA D630045J12 gene
Synonyms
MMRRC Submission 067860-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8331 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 38100109-38230944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38125409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1535 (E1535G)
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: E1394G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: E1394G

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 probably damaging
Transcript: ENSMUST00000169256
AA Change: E1535G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: E1535G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 C A 12: 84,650,726 (GRCm39) A545S probably damaging Het
Alox12e A T 11: 70,211,923 (GRCm39) S195R probably benign Het
Angpt1 T C 15: 42,539,653 (GRCm39) R69G probably damaging Het
Apob A G 12: 8,051,882 (GRCm39) Q1149R probably benign Het
As3mt A T 19: 46,697,445 (GRCm39) E71V probably damaging Het
Atp9a A T 2: 168,517,217 (GRCm39) V372E probably benign Het
Bmal1 C A 7: 112,912,703 (GRCm39) N586K probably benign Het
Bmp2k T C 5: 97,192,928 (GRCm39) F259S probably damaging Het
Cacna1c T C 6: 118,607,290 (GRCm39) T1364A Het
Casp7 T A 19: 56,429,397 (GRCm39) I261N probably damaging Het
Ccdc154 A G 17: 25,386,927 (GRCm39) K319E probably benign Het
Cdc42bpg C A 19: 6,363,477 (GRCm39) L446I probably benign Het
Cdkl3 A T 11: 51,917,704 (GRCm39) T334S probably benign Het
Cep250 T A 2: 155,832,173 (GRCm39) L1366Q probably damaging Het
Chp2 G A 7: 121,821,133 (GRCm39) D165N probably damaging Het
Ckap5 T A 2: 91,406,545 (GRCm39) M782K probably damaging Het
Col20a1 T A 2: 180,638,559 (GRCm39) I433N possibly damaging Het
Col4a2 A T 8: 11,463,985 (GRCm39) R320* probably null Het
Ctsc A G 7: 87,946,328 (GRCm39) H119R possibly damaging Het
Cubn T C 2: 13,345,053 (GRCm39) H2121R probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
Dido1 A T 2: 180,302,242 (GRCm39) D1887E probably benign Het
Dnah6 T C 6: 73,001,983 (GRCm39) E3903G probably benign Het
Eif4a3l2 T C 6: 116,529,323 (GRCm39) I400T probably damaging Het
Ep300 T C 15: 81,485,411 (GRCm39) S133P unknown Het
Ercc3 T C 18: 32,373,871 (GRCm39) S73P probably damaging Het
Fis1 T C 5: 136,991,987 (GRCm39) probably null Het
Fscb T A 12: 64,520,242 (GRCm39) D408V probably benign Het
Gm17087 A G 17: 8,785,539 (GRCm39) W55R probably damaging Het
Gm3404 A T 5: 146,462,759 (GRCm39) S41C probably damaging Het
Greb1l T C 18: 10,458,706 (GRCm39) S96P possibly damaging Het
Irf3 C T 7: 44,650,383 (GRCm39) P300S probably damaging Het
Klk1b4 G A 7: 43,860,999 (GRCm39) C214Y probably damaging Het
Krtap5-3 T A 7: 141,755,563 (GRCm39) C133* probably null Het
Map3k12 T A 15: 102,410,766 (GRCm39) R448* probably null Het
Map4k2 C G 19: 6,402,853 (GRCm39) A738G probably damaging Het
Matn2 A T 15: 34,428,827 (GRCm39) K730N probably damaging Het
Mpp3 C T 11: 101,902,541 (GRCm39) probably null Het
N4bp2 T A 5: 65,964,943 (GRCm39) D997E probably damaging Het
Nav2 C T 7: 49,102,371 (GRCm39) P390S probably benign Het
Nme8 A G 13: 19,843,036 (GRCm39) S380P probably damaging Het
Nup210 C T 6: 91,030,648 (GRCm39) D878N possibly damaging Het
Odad3 C T 9: 21,903,007 (GRCm39) R441H probably damaging Het
Or4k49 A G 2: 111,494,727 (GRCm39) D52G possibly damaging Het
Or8c18 A G 9: 38,203,381 (GRCm39) I47V possibly damaging Het
Osbpl9 C A 4: 108,923,378 (GRCm39) W427L probably damaging Het
Pcdhb12 T C 18: 37,570,342 (GRCm39) V496A probably damaging Het
Pdlim1 G A 19: 40,218,995 (GRCm39) T212I possibly damaging Het
Phc2 C T 4: 128,605,987 (GRCm39) Q270* probably null Het
Pi4kb G A 3: 94,903,995 (GRCm39) R527Q probably null Het
Platr25 G T 13: 62,848,717 (GRCm39) H48Q probably benign Het
Polr1a C T 6: 71,953,163 (GRCm39) T1577M probably damaging Het
Ptprf C T 4: 118,083,263 (GRCm39) V915M probably benign Het
Ptprh A G 7: 4,552,480 (GRCm39) L928S probably damaging Het
Qrsl1 T C 10: 43,752,521 (GRCm39) N434S probably damaging Het
Slc44a4 T A 17: 35,140,545 (GRCm39) L246H probably damaging Het
Steap3 A T 1: 120,169,218 (GRCm39) C360S possibly damaging Het
Stk10 A G 11: 32,538,928 (GRCm39) T256A Het
Tatdn3 A T 1: 190,778,408 (GRCm39) L261Q probably damaging Het
Thnsl1 T A 2: 21,216,985 (GRCm39) F246L probably benign Het
Thsd7a A G 6: 12,471,157 (GRCm39) V487A Het
Tmem41a A C 16: 21,766,116 (GRCm39) probably null Het
Togaram2 G A 17: 72,036,221 (GRCm39) V924M probably damaging Het
Trabd T C 15: 88,969,131 (GRCm39) F185S probably damaging Het
Traf1 T C 2: 34,838,370 (GRCm39) D156G probably damaging Het
Ttn T C 2: 76,710,482 (GRCm39) E8513G unknown Het
Txlna C A 4: 129,533,279 (GRCm39) S83I probably damaging Het
Utrn T G 10: 12,490,363 (GRCm39) T6P probably benign Het
Vmn2r26 T A 6: 124,038,887 (GRCm39) S821T probably benign Het
Wdhd1 A T 14: 47,509,702 (GRCm39) probably null Het
Wnk1 T C 6: 119,930,794 (GRCm39) I917V probably benign Het
Wscd2 A G 5: 113,688,996 (GRCm39) M1V probably null Het
Xkr6 A G 14: 64,056,392 (GRCm39) H357R unknown Het
Zfhx2 G T 14: 55,309,444 (GRCm39) T885K probably benign Het
Zfp583 C T 7: 6,320,554 (GRCm39) E153K probably benign Het
Zmynd11 A G 13: 9,745,190 (GRCm39) M243T probably benign 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
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
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'- CCAGGATTTCTGTCCTAGGCTC -3'
(R):5'- GGGGACATCTCTAAAAGCACTG -3'

Sequencing Primer
(F):5'- AGTCTCCATCATGCCCAGTG -3'
(R):5'- TCTCTAAAAGCACTGTACAGAGG -3'
Posted On 2020-09-02