Incidental Mutation 'R9735:9530053A07Rik'
ID 731631
Institutional Source Beutler Lab
Gene Symbol 9530053A07Rik
Ensembl Gene ENSMUSG00000078776
Gene Name RIKEN cDNA 9530053A07 gene
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R9735 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 28129466-28164811 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28157010 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 2074 (V2074E)
Ref Sequence ENSEMBL: ENSMUSP00000056479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059886] [ENSMUST00000150948]
AlphaFold E9PVG8
Predicted Effect probably damaging
Transcript: ENSMUST00000059886
AA Change: V2074E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056479
Gene: ENSMUSG00000078776
AA Change: V2074E

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
FOLN 27 49 1.23e-4 SMART
VWD 46 211 1.5e-40 SMART
C8 251 326 4.31e-33 SMART
Pfam:TIL 329 383 2e-13 PFAM
VWC 385 448 1.02e0 SMART
VWD 439 603 4.32e-32 SMART
C8 640 715 4.54e-9 SMART
Pfam:TIL 718 771 1.6e-12 PFAM
VWC 773 826 1.1e0 SMART
FOLN 805 827 6.87e1 SMART
VWD 825 988 7.92e-40 SMART
C8 1033 1108 5.1e-35 SMART
Pfam:TIL 1111 1164 7.6e-11 PFAM
VWC 1166 1224 1.1e-2 SMART
FOLN 1197 1219 9.55e-1 SMART
FOLN 1223 1245 5.38e1 SMART
VWD 1241 1410 9.04e-35 SMART
C8 1450 1526 9.54e-26 SMART
low complexity region 1540 1550 N/A INTRINSIC
EGF_like 1557 1580 5.34e1 SMART
VWC 1588 1681 3.21e-3 SMART
VWD 1639 1806 7.3e-30 SMART
C8 1838 1913 2.44e-32 SMART
EGF_like 1941 1964 4.46e1 SMART
VWC 1971 2062 2.85e-1 SMART
VWD 2022 2178 1.32e-27 SMART
low complexity region 2199 2212 N/A INTRINSIC
C8 2219 2294 1.43e-29 SMART
Pfam:TIL 2297 2350 1.1e-11 PFAM
FOLN 2383 2405 5.68e1 SMART
VWD 2402 2564 4.58e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000150948
AA Change: V2074E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114986
Gene: ENSMUSG00000078776
AA Change: V2074E

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
FOLN 27 49 1.23e-4 SMART
VWD 46 211 1.5e-40 SMART
C8 251 326 4.31e-33 SMART
Pfam:TIL 329 383 2e-13 PFAM
VWC 385 448 1.02e0 SMART
VWD 439 603 4.32e-32 SMART
C8 640 715 4.54e-9 SMART
Pfam:TIL 718 771 1.6e-12 PFAM
VWC 773 826 1.1e0 SMART
FOLN 805 827 6.87e1 SMART
VWD 825 988 7.92e-40 SMART
C8 1033 1108 5.1e-35 SMART
Pfam:TIL 1111 1164 7.6e-11 PFAM
VWC 1166 1224 1.1e-2 SMART
FOLN 1197 1219 9.55e-1 SMART
FOLN 1223 1245 5.38e1 SMART
VWD 1241 1410 9.04e-35 SMART
C8 1450 1526 9.54e-26 SMART
low complexity region 1540 1550 N/A INTRINSIC
EGF_like 1557 1580 5.34e1 SMART
VWC 1588 1681 3.21e-3 SMART
VWD 1639 1806 7.3e-30 SMART
C8 1838 1913 2.44e-32 SMART
EGF_like 1941 1964 4.46e1 SMART
VWC 1971 2062 2.85e-1 SMART
VWD 2022 2178 1.32e-27 SMART
low complexity region 2199 2212 N/A INTRINSIC
C8 2219 2294 1.43e-29 SMART
Pfam:TIL 2297 2350 1.1e-11 PFAM
FOLN 2383 2405 5.68e1 SMART
VWD 2402 2564 4.58e-4 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 99.1%
  • 20x: 98.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 T C 8: 88,310,634 (GRCm38) V215A probably benign Het
Arhgef12 G A 9: 42,971,103 (GRCm38) R1482* probably null Het
Atp9b A T 18: 80,795,414 (GRCm38) D428E Het
Bnip3l G A 14: 67,008,765 (GRCm38) P7L possibly damaging Het
Cd6 A G 19: 10,797,871 (GRCm38) S296P probably benign Het
Cpt1a A G 19: 3,370,825 (GRCm38) R428G probably benign Het
Csmd2 A C 4: 128,509,108 (GRCm38) T2330P Het
D6Ertd527e G C 6: 87,111,857 (GRCm38) S334T unknown Het
Dcaf4 T A 12: 83,526,165 (GRCm38) I18N probably benign Het
Ern1 A T 11: 106,421,882 (GRCm38) Y224* probably null Het
Ero1l T A 14: 45,295,978 (GRCm38) S224C possibly damaging Het
Flg2 A G 3: 93,220,362 (GRCm38) S2194G unknown Het
Fnip1 A T 11: 54,503,447 (GRCm38) D903V probably damaging Het
Lss G T 10: 76,546,781 (GRCm38) A497S probably benign Het
Mark3 T C 12: 111,655,448 (GRCm38) F675L probably benign Het
Mylk T C 16: 34,914,809 (GRCm38) F720L probably benign Het
Nup210 A C 6: 91,053,648 (GRCm38) S884A probably benign Het
Olfr1181 A T 2: 88,423,157 (GRCm38) N289K probably damaging Het
Olfr531 T A 7: 140,400,465 (GRCm38) M194L probably benign Het
Osbpl5 C T 7: 143,694,936 (GRCm38) V630I possibly damaging Het
Pkd1l2 A G 8: 117,046,081 (GRCm38) I1069T possibly damaging Het
Rnaseh2a C T 8: 84,960,032 (GRCm38) V163M probably damaging Het
Sept9 T A 11: 117,354,854 (GRCm38) V434E probably damaging Het
Slc36a3 A T 11: 55,135,278 (GRCm38) I238N probably damaging Het
Spin1 T A 13: 51,139,485 (GRCm38) L77Q probably damaging Het
Spint1 A G 2: 119,246,416 (GRCm38) D327G probably damaging Het
Tmub2 A G 11: 102,287,526 (GRCm38) D123G Het
Vps13a A T 19: 16,723,747 (GRCm38) L686Q probably damaging Het
Zfp51 C A 17: 21,465,151 (GRCm38) S676* probably null Het
Other mutations in 9530053A07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:9530053A07Rik APN 7 28,164,528 (GRCm38) missense probably damaging 1.00
IGL00757:9530053A07Rik APN 7 28,154,445 (GRCm38) missense probably damaging 1.00
IGL01015:9530053A07Rik APN 7 28,155,318 (GRCm38) missense probably damaging 1.00
IGL01079:9530053A07Rik APN 7 28,139,778 (GRCm38) missense probably damaging 0.99
IGL01343:9530053A07Rik APN 7 28,150,702 (GRCm38) missense probably benign 0.19
IGL01420:9530053A07Rik APN 7 28,140,133 (GRCm38) missense probably benign 0.28
IGL01604:9530053A07Rik APN 7 28,155,324 (GRCm38) missense probably benign 0.11
IGL01666:9530053A07Rik APN 7 28,153,292 (GRCm38) missense probably damaging 1.00
IGL02002:9530053A07Rik APN 7 28,152,796 (GRCm38) missense probably damaging 1.00
IGL02036:9530053A07Rik APN 7 28,137,525 (GRCm38) missense possibly damaging 0.82
IGL02126:9530053A07Rik APN 7 28,139,856 (GRCm38) missense probably damaging 1.00
IGL02150:9530053A07Rik APN 7 28,146,779 (GRCm38) nonsense probably null
IGL02219:9530053A07Rik APN 7 28,154,635 (GRCm38) missense probably damaging 1.00
IGL02563:9530053A07Rik APN 7 28,157,892 (GRCm38) missense probably benign
IGL02804:9530053A07Rik APN 7 28,153,370 (GRCm38) missense probably benign 0.00
IGL02830:9530053A07Rik APN 7 28,162,923 (GRCm38) missense probably damaging 1.00
IGL02943:9530053A07Rik APN 7 28,147,188 (GRCm38) missense probably damaging 1.00
IGL02977:9530053A07Rik APN 7 28,164,372 (GRCm38) missense possibly damaging 0.83
IGL03231:9530053A07Rik APN 7 28,153,722 (GRCm38) missense possibly damaging 0.95
IGL03304:9530053A07Rik APN 7 28,142,242 (GRCm38) missense probably damaging 0.99
herz UTSW 7 28,153,839 (GRCm38) missense possibly damaging 0.72
pulse UTSW 7 28,153,749 (GRCm38) missense probably damaging 1.00
Sinusoidal UTSW 7 28,140,130 (GRCm38) missense probably damaging 1.00
PIT4378001:9530053A07Rik UTSW 7 28,154,464 (GRCm38) missense possibly damaging 0.61
R0023:9530053A07Rik UTSW 7 28,153,412 (GRCm38) missense probably benign 0.00
R0131:9530053A07Rik UTSW 7 28,137,615 (GRCm38) missense probably damaging 1.00
R0131:9530053A07Rik UTSW 7 28,137,615 (GRCm38) missense probably damaging 1.00
R0132:9530053A07Rik UTSW 7 28,137,615 (GRCm38) missense probably damaging 1.00
R0158:9530053A07Rik UTSW 7 28,155,492 (GRCm38) missense probably damaging 1.00
R0230:9530053A07Rik UTSW 7 28,156,825 (GRCm38) missense probably damaging 1.00
R0310:9530053A07Rik UTSW 7 28,142,274 (GRCm38) missense probably benign 0.04
R0448:9530053A07Rik UTSW 7 28,140,235 (GRCm38) missense probably benign 0.03
R0462:9530053A07Rik UTSW 7 28,137,340 (GRCm38) missense probably damaging 1.00
R0481:9530053A07Rik UTSW 7 28,153,749 (GRCm38) missense probably damaging 1.00
R0497:9530053A07Rik UTSW 7 28,147,465 (GRCm38) missense probably damaging 1.00
R0556:9530053A07Rik UTSW 7 28,159,378 (GRCm38) missense probably benign
R0562:9530053A07Rik UTSW 7 28,162,690 (GRCm38) missense probably benign 0.30
R0586:9530053A07Rik UTSW 7 28,137,091 (GRCm38) missense probably damaging 0.99
R0924:9530053A07Rik UTSW 7 28,140,130 (GRCm38) missense probably damaging 1.00
R0930:9530053A07Rik UTSW 7 28,140,130 (GRCm38) missense probably damaging 1.00
R1103:9530053A07Rik UTSW 7 28,154,520 (GRCm38) missense probably damaging 1.00
R1213:9530053A07Rik UTSW 7 28,157,673 (GRCm38) missense probably damaging 1.00
R1292:9530053A07Rik UTSW 7 28,142,794 (GRCm38) splice site probably benign
R1368:9530053A07Rik UTSW 7 28,159,478 (GRCm38) missense possibly damaging 0.89
R1451:9530053A07Rik UTSW 7 28,137,157 (GRCm38) missense probably damaging 1.00
R1477:9530053A07Rik UTSW 7 28,157,093 (GRCm38) missense probably benign 0.01
R1538:9530053A07Rik UTSW 7 28,155,492 (GRCm38) missense probably damaging 1.00
R1655:9530053A07Rik UTSW 7 28,147,110 (GRCm38) missense probably damaging 0.98
R1697:9530053A07Rik UTSW 7 28,154,347 (GRCm38) missense probably damaging 1.00
R1741:9530053A07Rik UTSW 7 28,157,854 (GRCm38) missense probably damaging 0.98
R1796:9530053A07Rik UTSW 7 28,155,372 (GRCm38) missense probably damaging 1.00
R1853:9530053A07Rik UTSW 7 28,155,546 (GRCm38) nonsense probably null
R1861:9530053A07Rik UTSW 7 28,154,732 (GRCm38) missense probably damaging 1.00
R1909:9530053A07Rik UTSW 7 28,144,348 (GRCm38) missense possibly damaging 0.52
R1971:9530053A07Rik UTSW 7 28,131,512 (GRCm38) missense possibly damaging 0.90
R1990:9530053A07Rik UTSW 7 28,154,360 (GRCm38) missense probably damaging 0.98
R2020:9530053A07Rik UTSW 7 28,155,594 (GRCm38) missense probably benign
R2084:9530053A07Rik UTSW 7 28,157,535 (GRCm38) missense probably damaging 1.00
R2125:9530053A07Rik UTSW 7 28,158,022 (GRCm38) missense probably benign 0.00
R2132:9530053A07Rik UTSW 7 28,155,474 (GRCm38) missense probably damaging 1.00
R2513:9530053A07Rik UTSW 7 28,131,635 (GRCm38) missense probably damaging 0.99
R2913:9530053A07Rik UTSW 7 28,164,307 (GRCm38) missense probably damaging 1.00
R3150:9530053A07Rik UTSW 7 28,154,195 (GRCm38) missense probably benign 0.21
R3499:9530053A07Rik UTSW 7 28,154,555 (GRCm38) missense probably benign 0.42
R3702:9530053A07Rik UTSW 7 28,157,778 (GRCm38) missense probably damaging 1.00
R3881:9530053A07Rik UTSW 7 28,140,038 (GRCm38) nonsense probably null
R3938:9530053A07Rik UTSW 7 28,154,294 (GRCm38) missense probably damaging 1.00
R4050:9530053A07Rik UTSW 7 28,152,985 (GRCm38) missense possibly damaging 0.55
R4152:9530053A07Rik UTSW 7 28,156,897 (GRCm38) missense possibly damaging 0.47
R4168:9530053A07Rik UTSW 7 28,137,109 (GRCm38) missense probably benign 0.05
R4235:9530053A07Rik UTSW 7 28,156,648 (GRCm38) missense probably damaging 0.99
R4241:9530053A07Rik UTSW 7 28,154,335 (GRCm38) missense probably damaging 1.00
R4363:9530053A07Rik UTSW 7 28,146,906 (GRCm38) missense probably damaging 1.00
R4460:9530053A07Rik UTSW 7 28,152,856 (GRCm38) missense probably benign 0.17
R4463:9530053A07Rik UTSW 7 28,150,719 (GRCm38) missense probably benign
R4841:9530053A07Rik UTSW 7 28,150,722 (GRCm38) missense probably damaging 1.00
R4842:9530053A07Rik UTSW 7 28,150,722 (GRCm38) missense probably damaging 1.00
R4876:9530053A07Rik UTSW 7 28,142,800 (GRCm38) intron probably benign
R4905:9530053A07Rik UTSW 7 28,156,983 (GRCm38) missense possibly damaging 0.93
R4997:9530053A07Rik UTSW 7 28,143,924 (GRCm38) missense possibly damaging 0.77
R5091:9530053A07Rik UTSW 7 28,156,958 (GRCm38) missense probably benign 0.44
R5159:9530053A07Rik UTSW 7 28,153,308 (GRCm38) missense probably benign 0.09
R5326:9530053A07Rik UTSW 7 28,155,489 (GRCm38) missense probably damaging 0.98
R5396:9530053A07Rik UTSW 7 28,140,183 (GRCm38) missense probably benign
R5441:9530053A07Rik UTSW 7 28,156,914 (GRCm38) missense probably damaging 1.00
R5480:9530053A07Rik UTSW 7 28,157,999 (GRCm38) nonsense probably null
R5542:9530053A07Rik UTSW 7 28,155,489 (GRCm38) missense probably damaging 0.98
R5571:9530053A07Rik UTSW 7 28,156,569 (GRCm38) missense probably damaging 0.99
R5613:9530053A07Rik UTSW 7 28,142,878 (GRCm38) intron probably benign
R5637:9530053A07Rik UTSW 7 28,152,852 (GRCm38) missense probably benign 0.00
R5766:9530053A07Rik UTSW 7 28,137,329 (GRCm38) nonsense probably null
R6174:9530053A07Rik UTSW 7 28,139,959 (GRCm38) missense probably damaging 0.96
R6233:9530053A07Rik UTSW 7 28,131,460 (GRCm38) missense probably damaging 0.99
R6250:9530053A07Rik UTSW 7 28,150,714 (GRCm38) missense probably damaging 1.00
R6379:9530053A07Rik UTSW 7 28,157,592 (GRCm38) missense probably damaging 1.00
R6442:9530053A07Rik UTSW 7 28,144,186 (GRCm38) missense possibly damaging 0.88
R6478:9530053A07Rik UTSW 7 28,155,373 (GRCm38) missense probably damaging 1.00
R6699:9530053A07Rik UTSW 7 28,144,368 (GRCm38) missense probably damaging 1.00
R6852:9530053A07Rik UTSW 7 28,147,135 (GRCm38) missense probably damaging 1.00
R6883:9530053A07Rik UTSW 7 28,152,835 (GRCm38) missense possibly damaging 0.89
R6902:9530053A07Rik UTSW 7 28,137,213 (GRCm38) missense probably damaging 1.00
R6903:9530053A07Rik UTSW 7 28,137,213 (GRCm38) missense probably damaging 1.00
R6904:9530053A07Rik UTSW 7 28,137,213 (GRCm38) missense probably damaging 1.00
R6992:9530053A07Rik UTSW 7 28,140,183 (GRCm38) missense probably benign 0.04
R7023:9530053A07Rik UTSW 7 28,140,038 (GRCm38) nonsense probably null
R7039:9530053A07Rik UTSW 7 28,140,148 (GRCm38) missense possibly damaging 0.80
R7171:9530053A07Rik UTSW 7 28,154,519 (GRCm38) nonsense probably null
R7282:9530053A07Rik UTSW 7 28,144,408 (GRCm38) missense probably benign 0.02
R7291:9530053A07Rik UTSW 7 28,140,220 (GRCm38) missense probably benign
R7344:9530053A07Rik UTSW 7 28,152,760 (GRCm38) missense possibly damaging 0.46
R7344:9530053A07Rik UTSW 7 28,140,279 (GRCm38) missense possibly damaging 0.79
R7392:9530053A07Rik UTSW 7 28,164,372 (GRCm38) missense possibly damaging 0.83
R7531:9530053A07Rik UTSW 7 28,140,231 (GRCm38) missense probably benign
R7541:9530053A07Rik UTSW 7 28,144,256 (GRCm38) nonsense probably null
R7577:9530053A07Rik UTSW 7 28,154,423 (GRCm38) missense possibly damaging 0.65
R7594:9530053A07Rik UTSW 7 28,131,460 (GRCm38) missense probably damaging 0.99
R7647:9530053A07Rik UTSW 7 28,140,045 (GRCm38) missense probably benign 0.00
R7718:9530053A07Rik UTSW 7 28,147,201 (GRCm38) missense probably damaging 1.00
R7733:9530053A07Rik UTSW 7 28,139,965 (GRCm38) missense probably damaging 1.00
R7737:9530053A07Rik UTSW 7 28,157,073 (GRCm38) missense probably damaging 1.00
R7908:9530053A07Rik UTSW 7 28,147,496 (GRCm38) missense probably benign 0.12
R8013:9530053A07Rik UTSW 7 28,137,541 (GRCm38) missense probably benign 0.14
R8014:9530053A07Rik UTSW 7 28,137,541 (GRCm38) missense probably benign 0.14
R8151:9530053A07Rik UTSW 7 28,153,341 (GRCm38) missense possibly damaging 0.95
R8175:9530053A07Rik UTSW 7 28,164,448 (GRCm38) nonsense probably null
R8254:9530053A07Rik UTSW 7 28,147,349 (GRCm38) missense possibly damaging 0.63
R8345:9530053A07Rik UTSW 7 28,155,360 (GRCm38) missense probably damaging 1.00
R8414:9530053A07Rik UTSW 7 28,142,733 (GRCm38) missense probably damaging 1.00
R8419:9530053A07Rik UTSW 7 28,143,921 (GRCm38) missense probably damaging 1.00
R8496:9530053A07Rik UTSW 7 28,143,952 (GRCm38) missense possibly damaging 0.81
R8691:9530053A07Rik UTSW 7 28,153,839 (GRCm38) missense possibly damaging 0.72
R8785:9530053A07Rik UTSW 7 28,154,707 (GRCm38) missense probably damaging 1.00
R8863:9530053A07Rik UTSW 7 28,131,581 (GRCm38) missense probably damaging 1.00
R8926:9530053A07Rik UTSW 7 28,154,444 (GRCm38) missense probably damaging 1.00
R8950:9530053A07Rik UTSW 7 28,164,326 (GRCm38) missense probably benign 0.32
R9014:9530053A07Rik UTSW 7 28,155,451 (GRCm38) missense probably damaging 1.00
R9045:9530053A07Rik UTSW 7 28,154,431 (GRCm38) missense probably damaging 1.00
R9115:9530053A07Rik UTSW 7 28,154,329 (GRCm38) missense possibly damaging 0.74
R9233:9530053A07Rik UTSW 7 28,140,094 (GRCm38) missense possibly damaging 0.83
R9330:9530053A07Rik UTSW 7 28,156,985 (GRCm38) missense probably benign 0.02
R9426:9530053A07Rik UTSW 7 28,143,856 (GRCm38) missense possibly damaging 0.92
R9477:9530053A07Rik UTSW 7 28,152,840 (GRCm38) missense probably damaging 1.00
R9502:9530053A07Rik UTSW 7 28,137,466 (GRCm38) missense probably benign 0.09
R9505:9530053A07Rik UTSW 7 28,142,484 (GRCm38) nonsense probably null
R9601:9530053A07Rik UTSW 7 28,154,380 (GRCm38) missense possibly damaging 0.78
R9630:9530053A07Rik UTSW 7 28,137,199 (GRCm38) missense probably damaging 1.00
R9632:9530053A07Rik UTSW 7 28,142,301 (GRCm38) missense probably benign
R9673:9530053A07Rik UTSW 7 28,156,619 (GRCm38) missense probably benign 0.25
Z1176:9530053A07Rik UTSW 7 28,154,762 (GRCm38) missense probably benign 0.03
Z1176:9530053A07Rik UTSW 7 28,142,386 (GRCm38) missense probably benign 0.06
Z1177:9530053A07Rik UTSW 7 28,139,898 (GRCm38) missense probably benign 0.25
Z1186:9530053A07Rik UTSW 7 28,156,986 (GRCm38) missense probably benign 0.01
Z1186:9530053A07Rik UTSW 7 28,146,705 (GRCm38) missense probably benign 0.00
Z1186:9530053A07Rik UTSW 7 28,131,572 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGACCTGTGGGATCCATGAG -3'
(R):5'- TCAAGTTGGTCAGTGTCCCC -3'

Sequencing Primer
(F):5'- ACCTGTGGGATCCATGAGGAATG -3'
(R):5'- TGTCCCTGTAGAACCATG -3'
Posted On 2022-11-14