Incidental Mutation 'R7250:D630045J12Rik'
ID 563823
Institutional Source Beutler Lab
Gene Symbol D630045J12Rik
Ensembl Gene ENSMUSG00000063455
Gene Name RIKEN cDNA D630045J12 gene
Synonyms
MMRRC Submission 045350-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 38100109-38230944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 38119546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1732 (T1732K)
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: T1591K

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: T1591K

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 possibly damaging
Transcript: ENSMUST00000169256
AA Change: T1732K

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: T1732K

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: 99.7%
  • 20x: 99.0%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Actl7b T A 4: 56,741,035 (GRCm39) M108L probably benign Het
Adgrf3 T A 5: 30,400,680 (GRCm39) I934L probably damaging Het
Adprm A G 11: 66,932,450 (GRCm39) V153A probably benign Het
Aif1l G A 2: 31,859,764 (GRCm39) V109M probably damaging Het
Asphd1 T A 7: 126,545,942 (GRCm39) E307V probably damaging Het
Ate1 T A 7: 130,121,701 (GRCm39) probably benign Het
Borcs7 A G 19: 46,688,047 (GRCm39) H64R probably damaging Het
C1qtnf1 A G 11: 118,339,176 (GRCm39) *282W probably null Het
Cacna1c A T 6: 118,673,412 (GRCm39) V647E Het
Cacna1c A G 6: 118,574,966 (GRCm39) C1985R Het
Cacna1d A G 14: 29,797,108 (GRCm39) S1497P probably damaging Het
Cacna1e T A 1: 154,576,235 (GRCm39) I133F possibly damaging Het
Ccdc63 A T 5: 122,260,906 (GRCm39) L206H probably damaging Het
Cenatac A G 9: 44,323,748 (GRCm39) probably null Het
Cspg4b T G 13: 113,455,349 (GRCm39) I465R Het
D430041D05Rik T C 2: 104,086,961 (GRCm39) T672A possibly damaging Het
D930020B18Rik T C 10: 121,507,736 (GRCm39) I158T probably damaging Het
Ddx52 G A 11: 83,835,392 (GRCm39) G106D probably benign Het
Dock2 A G 11: 34,586,032 (GRCm39) V550A probably benign Het
Dock2 C T 11: 34,586,120 (GRCm39) D521N probably damaging Het
F13b T C 1: 139,444,227 (GRCm39) probably null Het
Fchsd2 A G 7: 100,908,892 (GRCm39) K431R possibly damaging Het
Fez1 C T 9: 36,779,090 (GRCm39) R256C probably damaging Het
Gjd4 T A 18: 9,280,391 (GRCm39) Q229L probably benign Het
Gpr45 T A 1: 43,071,531 (GRCm39) I58N probably damaging Het
Gstm1 T A 3: 107,923,709 (GRCm39) I99F probably damaging Het
Gtpbp8 T A 16: 44,564,225 (GRCm39) T149S probably damaging Het
H2-Ab1 A G 17: 34,486,481 (GRCm39) D180G probably damaging Het
Hdhd5 A G 6: 120,494,016 (GRCm39) I188T possibly damaging Het
Hfm1 T C 5: 107,052,197 (GRCm39) I300V probably benign Het
Hnrnpr T G 4: 136,059,746 (GRCm39) D283E probably benign Het
Hsp90b1 T C 10: 86,527,572 (GRCm39) E768G unknown Het
Kcna4 C A 2: 107,126,663 (GRCm39) Q466K possibly damaging Het
Kcnk6 A G 7: 28,931,619 (GRCm39) L97P probably benign Het
Kics2 T C 10: 121,581,376 (GRCm39) S126P possibly damaging Het
Klf5 A G 14: 99,536,455 (GRCm39) S9G probably benign Het
Kmt2c C A 5: 25,504,489 (GRCm39) K3606N probably damaging Het
Kmt2c T C 5: 25,514,805 (GRCm39) T3013A probably benign Het
Lancl1 A G 1: 67,048,458 (GRCm39) Y207H possibly damaging Het
Lipe G C 7: 25,088,085 (GRCm39) probably benign Het
Lrrc66 T A 5: 73,768,224 (GRCm39) H239L probably benign Het
Ltbp2 C T 12: 84,834,166 (GRCm39) W1441* probably null Het
Man2a1 T C 17: 64,943,583 (GRCm39) S213P probably benign Het
Mapre2 C T 18: 23,991,119 (GRCm39) A171V possibly damaging Het
Mdn1 T A 4: 32,695,427 (GRCm39) D1155E probably damaging Het
Mki67 T C 7: 135,301,053 (GRCm39) D1327G possibly damaging Het
Mx2 T C 16: 97,348,664 (GRCm39) I279T probably damaging Het
Myo5c A G 9: 75,169,497 (GRCm39) T441A probably damaging Het
Nlrp9a T G 7: 26,258,143 (GRCm39) V587G possibly damaging Het
Npas2 A T 1: 39,377,188 (GRCm39) T517S probably damaging Het
Npy1r T C 8: 67,157,712 (GRCm39) S341P probably benign Het
Ntm A G 9: 29,322,988 (GRCm39) W11R probably benign Het
Nxpe2 A T 9: 48,238,096 (GRCm39) I53N possibly damaging Het
Onecut2 T C 18: 64,519,511 (GRCm39) F443L probably benign Het
Or10g6 T A 9: 39,934,050 (GRCm39) Y120* probably null Het
Or2r2 A G 6: 42,463,689 (GRCm39) V146A probably benign Het
Or52ac1 A T 7: 104,245,738 (GRCm39) Y217N probably damaging Het
Parp2 T A 14: 51,054,801 (GRCm39) V248E probably benign Het
Pcdh12 C A 18: 38,415,029 (GRCm39) V699L probably benign Het
Pja2 G A 17: 64,616,451 (GRCm39) P148L probably benign Het
Poglut3 C T 9: 53,301,821 (GRCm39) Q158* probably null Het
Ppip5k2 T G 1: 97,673,187 (GRCm39) D415A probably benign Het
Prss47 A G 13: 65,200,355 (GRCm39) S74P probably benign Het
Ptprg G T 14: 12,166,767 (GRCm38) M723I probably benign Het
Qsox2 A T 2: 26,118,444 (GRCm39) I109N probably damaging Het
Ranbp3l A G 15: 9,041,853 (GRCm39) E217G probably benign Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Rgs12 T A 5: 35,122,841 (GRCm39) F208Y probably damaging Het
Rin3 C T 12: 102,334,893 (GRCm39) T268I unknown Het
Rttn T A 18: 89,007,647 (GRCm39) D427E probably benign Het
Samd13 G A 3: 146,352,079 (GRCm39) P91S probably benign Het
Samd9l T C 6: 3,374,201 (GRCm39) D1020G possibly damaging Het
Sec62 T G 3: 30,866,496 (GRCm39) L201V possibly damaging Het
Setdb1 C T 3: 95,261,852 (GRCm39) probably null Het
Sf3a3 A T 4: 124,616,708 (GRCm39) T197S probably benign Het
Slc20a1 A T 2: 129,051,844 (GRCm39) I618F possibly damaging Het
Slc38a3 A T 9: 107,533,865 (GRCm39) M186K probably benign Het
Slc39a13 T C 2: 90,893,503 (GRCm39) T319A probably benign Het
Slc44a4 T C 17: 35,137,520 (GRCm39) probably null Het
St3gal1 A C 15: 66,978,578 (GRCm39) D314E possibly damaging Het
Suclg1 A G 6: 73,248,074 (GRCm39) N265S probably benign Het
Sult2b1 A T 7: 45,433,361 (GRCm39) V2D unknown Het
Supv3l1 T A 10: 62,280,846 (GRCm39) I182F probably damaging Het
Tcp11l2 T C 10: 84,423,105 (GRCm39) probably null Het
Tenm2 C A 11: 35,963,625 (GRCm39) L935F probably damaging Het
Tnks T A 8: 35,318,912 (GRCm39) I790F probably damaging Het
Top2b C T 14: 16,420,411 (GRCm38) T1274I probably benign Het
Tpi1 A T 6: 124,789,441 (GRCm39) I178N probably damaging Het
Trav9d-1 A T 14: 53,030,153 (GRCm39) S86C probably damaging Het
Treml2 A G 17: 48,616,155 (GRCm39) E265G probably benign Het
Trpm7 A T 2: 126,668,685 (GRCm39) S744T possibly damaging Het
Usp33 T A 3: 152,097,999 (GRCm39) L909* probably null Het
Vcan A G 13: 89,869,805 (GRCm39) I210T probably damaging Het
Vcan A T 13: 89,879,576 (GRCm39) probably null Het
Vsig10l A T 7: 43,113,099 (GRCm39) D17V probably benign Het
Zbtb7b T A 3: 89,286,976 (GRCm39) T498S probably benign Het
Zfp366 T A 13: 99,366,076 (GRCm39) H412Q probably damaging Het
Zfp53 C A 17: 21,729,840 (GRCm39) D624E probably damaging Het
Zfp827 A T 8: 79,916,721 (GRCm39) D432V Het
Zic1 T C 9: 91,247,028 (GRCm39) T15A probably damaging Het
Zswim8 T C 14: 20,770,036 (GRCm39) C1368R 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
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
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'- ATGAAAGGCTGCTTCTAACACTAAG -3'
(R):5'- TACAGAGCTGGGCAGGTATC -3'

Sequencing Primer
(F):5'- GGCTGCTTCTAACACTAAGAATTAAC -3'
(R):5'- TCAGTACATCCCGCCTCAG -3'
Posted On 2019-06-26