Incidental Mutation 'R4792:D630045J12Rik'
ID 368663
Institutional Source Beutler Lab
Gene Symbol D630045J12Rik
Ensembl Gene ENSMUSG00000063455
Gene Name RIKEN cDNA D630045J12 gene
Synonyms
MMRRC Submission 042419-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4792 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 38100109-38230944 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38125275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1580 (K1580E)
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: K1439E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112939
Gene: ENSMUSG00000063455
AA Change: K1439E

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: ENSMUST00000127925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149557
Predicted Effect probably damaging
Transcript: ENSMUST00000169256
AA Change: K1580E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130121
Gene: ENSMUSG00000063455
AA Change: K1580E

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 0.3138 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 97% (89/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik A G 16: 88,504,651 (GRCm39) S49P possibly damaging Het
Abcb1a T C 5: 8,796,657 (GRCm39) probably null Het
Adgb G A 10: 10,274,647 (GRCm39) T770I probably damaging Het
Adgre4 A T 17: 56,098,491 (GRCm39) T134S probably benign Het
Aldh1a1 A G 19: 20,597,349 (GRCm39) N110S probably damaging Het
Alox5 C A 6: 116,437,964 (GRCm39) V8L possibly damaging Het
Ambra1 A G 2: 91,603,191 (GRCm39) T392A possibly damaging Het
Apob A G 12: 8,058,051 (GRCm39) I2145V probably benign Het
Arhgap39 A G 15: 76,625,717 (GRCm39) Y196H possibly damaging Het
Armh2 A G 13: 24,930,490 (GRCm39) probably benign Het
Carmil1 A G 13: 24,251,173 (GRCm39) L439S probably damaging Het
Carmil1 A T 13: 24,325,659 (GRCm39) S224T possibly damaging Het
Cfh G A 1: 140,028,561 (GRCm39) Q706* probably null Het
Chd2 A C 7: 73,118,325 (GRCm39) S1098A probably benign Het
Chrna5 A T 9: 54,911,985 (GRCm39) I158F probably damaging Het
Cilk1 A G 9: 78,060,975 (GRCm39) D207G probably damaging Het
Col6a5 T C 9: 105,807,983 (GRCm39) T1022A unknown Het
Cul7 T A 17: 46,967,976 (GRCm39) Y423* probably null Het
Cyp2e1 T C 7: 140,353,588 (GRCm39) Y342H probably benign Het
Dnah6 A G 6: 73,066,651 (GRCm39) M2573T probably damaging Het
Dnai4 T C 4: 102,929,881 (GRCm39) K370R possibly damaging Het
Edem1 T A 6: 108,805,707 (GRCm39) probably benign Het
Erp29 C T 5: 121,585,237 (GRCm39) E86K probably benign Het
Esrp2 C A 8: 106,859,141 (GRCm39) R535L probably damaging Het
Gabrb2 C T 11: 42,420,330 (GRCm39) probably benign Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Herc1 T A 9: 66,403,266 (GRCm39) V4395E possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmgb2 G A 8: 57,966,344 (GRCm39) C106Y probably damaging Het
Hoxa10 T C 6: 52,209,481 (GRCm39) probably benign Het
Hsd3b1 T A 3: 98,760,226 (GRCm39) Y255F probably benign Het
Ighd T C 12: 113,379,819 (GRCm39) K42E probably benign Het
Ighv1-26 T C 12: 114,752,191 (GRCm39) Y51C possibly damaging Het
Ighv5-2 C T 12: 113,542,419 (GRCm39) E19K possibly damaging Het
Ipo11 T C 13: 106,970,668 (GRCm39) probably benign Het
Itk C T 11: 46,235,658 (GRCm39) probably benign Het
Kat6a T A 8: 23,430,592 (GRCm39) H1982Q unknown Het
Kdm4d C T 9: 14,374,686 (GRCm39) V391I probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lgr6 T A 1: 134,949,544 (GRCm39) S229C probably benign Het
Lhx9 T A 1: 138,766,089 (GRCm39) Y233F possibly damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mapk4 T C 18: 74,070,321 (GRCm39) T191A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naglu C T 11: 100,961,932 (GRCm39) T135M probably damaging Het
Nomo1 T A 7: 45,693,643 (GRCm39) probably null Het
Nop56 T A 2: 130,119,784 (GRCm39) V75E possibly damaging Het
Nr1i3 G A 1: 171,046,164 (GRCm39) C283Y probably damaging Het
Or4x6 T A 2: 89,949,174 (GRCm39) Y256F possibly damaging Het
Or51d1 G A 7: 102,347,933 (GRCm39) G163R probably damaging Het
Or6c38 T G 10: 128,929,489 (GRCm39) Y118S probably damaging Het
Pcdhga2 A G 18: 37,802,452 (GRCm39) S99G probably benign Het
Pcnx1 T A 12: 81,965,925 (GRCm39) D697E probably damaging Het
Plxnb1 G A 9: 108,939,716 (GRCm39) D1462N probably damaging Het
Pnn G T 12: 59,118,991 (GRCm39) V525F possibly damaging Het
Prrc2a A T 17: 35,375,463 (GRCm39) D1062E probably damaging Het
Prss35 T A 9: 86,637,722 (GRCm39) V164E probably damaging Het
Psapl1 T C 5: 36,362,547 (GRCm39) S380P probably benign Het
Rnf222 A T 11: 68,783,845 (GRCm39) E137D probably damaging Het
Rsph10b A G 5: 143,874,135 (GRCm39) T79A probably damaging Het
Sbf2 T C 7: 109,950,817 (GRCm39) Q1164R probably damaging Het
Scn7a T C 2: 66,556,592 (GRCm39) D331G probably damaging Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Sspo G A 6: 48,438,519 (GRCm39) S1529N probably benign Het
St8sia3 T A 18: 64,398,634 (GRCm39) V31E probably benign Het
Sult1b1 A T 5: 87,662,906 (GRCm39) W265R probably damaging Het
Supt5 G T 7: 28,015,754 (GRCm39) Q863K probably benign Het
Tbc1d31 A G 15: 57,804,124 (GRCm39) R380G probably benign Het
Tdpoz1 T A 3: 93,577,845 (GRCm39) D313V possibly damaging Het
Tmem260 CAGGGACCGGCATAG CAG 14: 48,749,451 (GRCm39) probably benign Het
Tpx2 A T 2: 152,727,016 (GRCm39) T428S probably damaging Het
Trip11 A T 12: 101,851,705 (GRCm39) H786Q probably benign Het
Trpc6 A T 9: 8,626,615 (GRCm39) M322L probably benign Het
Try10 T C 6: 41,332,386 (GRCm39) V14A probably benign Het
Unc13d A T 11: 115,961,108 (GRCm39) F416L probably damaging Het
Vmn2r75 A T 7: 85,812,378 (GRCm39) M547K possibly damaging Het
Zbp1 A G 2: 173,051,006 (GRCm39) F288S probably damaging Het
Zc3h11a T A 1: 133,568,436 (GRCm39) Q71L probably damaging Het
Zfp40 G A 17: 23,396,008 (GRCm39) T193I possibly damaging Het
Zfp607a T C 7: 27,578,078 (GRCm39) Y383H probably benign Het
Zfp622 T A 15: 25,987,128 (GRCm39) Y82* probably null Het
Zfp964 T C 8: 70,116,665 (GRCm39) F422L 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
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'- AAGATTAAGAGTCCCCTTCCTCC -3'
(R):5'- CGCAACAAGATTCGCCTTCG -3'

Sequencing Primer
(F):5'- TTCCCTCCCCAGAAGTGAG -3'
(R):5'- AGATTCGCCTTCGTGCCAAAC -3'
Posted On 2016-02-04