Incidental Mutation 'R1546:D630045J12Rik'
ID 172174
Institutional Source Beutler Lab
Gene Symbol D630045J12Rik
Ensembl Gene ENSMUSG00000063455
Gene Name RIKEN cDNA D630045J12 gene
Synonyms
MMRRC Submission 039585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1546 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 38100109-38230944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38167590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1004 (I1004T)
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: I863T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: I863T

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 probably damaging
Transcript: ENSMUST00000169256
AA Change: I1004T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: I1004T

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: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.2%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,026,232 (GRCm39) S251P probably damaging Het
Aaas C A 15: 102,255,153 (GRCm39) R79L probably benign Het
Acap2 C A 16: 30,923,754 (GRCm39) E657* probably null Het
Adgrg5 A T 8: 95,668,258 (GRCm39) E441V probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
AY358078 C T 14: 52,057,876 (GRCm39) probably null Het
Bco2 A G 9: 50,461,929 (GRCm39) V25A possibly damaging Het
Bltp1 T C 3: 36,924,205 (GRCm39) V10A possibly damaging Het
Carf T A 1: 60,165,195 (GRCm39) probably null Het
Ccdc38 A T 10: 93,401,741 (GRCm39) I134L probably benign Het
Cgnl1 A G 9: 71,633,097 (GRCm39) S85P probably benign Het
Ctsl A G 13: 64,515,693 (GRCm39) V126A probably damaging Het
Cwc27 A C 13: 104,938,693 (GRCm39) S206A probably damaging Het
Dgki A G 6: 37,027,138 (GRCm39) V401A probably damaging Het
Dpp8 C T 9: 64,970,775 (GRCm39) H545Y possibly damaging Het
Dpy19l1 A T 9: 24,386,680 (GRCm39) C205S probably damaging Het
Enpp2 C T 15: 54,709,225 (GRCm39) E797K probably benign Het
Ephb2 C T 4: 136,498,320 (GRCm39) R253H probably damaging Het
Esrra T C 19: 6,897,665 (GRCm39) T31A probably benign Het
Ewsr1 C A 11: 5,028,574 (GRCm39) probably benign Het
Flt4 G T 11: 49,522,808 (GRCm39) R475L probably benign Het
Gm13547 A G 2: 29,653,921 (GRCm39) E138G possibly damaging Het
Gm572 A T 4: 148,751,276 (GRCm39) R216S possibly damaging Het
H2ac8 A G 13: 23,755,119 (GRCm39) V55A probably damaging Het
Hapln2 T A 3: 87,931,404 (GRCm39) Y37F probably benign Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,302 (GRCm39) probably benign Het
Hhla1 C T 15: 65,805,176 (GRCm39) A369T probably benign Het
Hmg20a T A 9: 56,374,685 (GRCm39) F14I possibly damaging Het
Iqca1l A T 5: 24,760,426 (GRCm39) probably null Het
Itga2 A T 13: 114,985,956 (GRCm39) S940T possibly damaging Het
Kcnt2 A G 1: 140,359,116 (GRCm39) N377S probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lhx6 A G 2: 35,981,049 (GRCm39) S298P probably benign Het
Lrp2 C T 2: 69,332,954 (GRCm39) G1521D probably damaging Het
Mogat2 A G 7: 98,881,766 (GRCm39) W57R probably damaging Het
Ms4a3 T C 19: 11,610,271 (GRCm39) N97S probably benign Het
Myo1a A G 10: 127,548,493 (GRCm39) D380G probably damaging Het
Nufip2 T A 11: 77,582,432 (GRCm39) D115E probably damaging Het
Ogn A T 13: 49,762,809 (GRCm39) K50N probably benign Het
Or5ac20 T C 16: 59,104,366 (GRCm39) R165G probably damaging Het
Or8c10 A T 9: 38,278,844 (GRCm39) M1L probably benign Het
Pde8b G A 13: 95,182,951 (GRCm39) T269I probably damaging Het
Ppargc1b A T 18: 61,443,677 (GRCm39) D495E probably damaging Het
Prdm16 C A 4: 154,613,117 (GRCm39) K103N possibly damaging Het
Proc C T 18: 32,260,463 (GRCm39) G221S probably damaging Het
Pxk A G 14: 8,164,091 (GRCm38) N561S probably damaging Het
Rapgef5 A G 12: 117,610,721 (GRCm39) N323S probably benign Het
Slc6a13 T G 6: 121,309,333 (GRCm39) D281E possibly damaging Het
Slc8a1 T C 17: 81,955,676 (GRCm39) Y454C probably damaging Het
Sntg2 C A 12: 30,338,295 (GRCm39) L115F probably damaging Het
Spata13 A G 14: 60,993,857 (GRCm39) D1103G probably damaging Het
Supv3l1 G A 10: 62,268,225 (GRCm39) A540V probably benign Het
Tet1 A T 10: 62,648,689 (GRCm39) D1914E probably damaging Het
Tmem30a A G 9: 79,678,570 (GRCm39) *329Q probably null Het
Tspan5 A T 3: 138,604,102 (GRCm39) L162F probably damaging Het
Ttn T A 2: 76,549,396 (GRCm39) K31760N probably damaging Het
Tyr A T 7: 87,087,200 (GRCm39) D437E probably benign Het
Ubr4 T A 4: 139,144,238 (GRCm39) L1427* probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vcan A G 13: 89,841,075 (GRCm39) S1490P probably damaging Het
Vcl T A 14: 21,059,018 (GRCm39) C545S probably damaging Het
Vmn2r4 C T 3: 64,314,309 (GRCm39) G224D probably damaging Het
Vmn2r97 T A 17: 19,168,110 (GRCm39) V788E probably damaging Het
Vrtn G A 12: 84,695,282 (GRCm39) V11M probably damaging Het
Zbtb21 A T 16: 97,753,227 (GRCm39) V380D probably damaging Het
Zcchc14 G A 8: 122,331,002 (GRCm39) 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
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
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'- AAACTACAAGCTCAGGTCCAGACCA -3'
(R):5'- CTTCAGTTTCCCATAATTCACTATTCAACCCA -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- CACTATTCAACCCATAGTATGGTCTG -3'
Posted On 2014-04-13