Incidental Mutation 'R4460:9530053A07Rik'
ID 330103
Institutional Source Beutler Lab
Gene Symbol 9530053A07Rik
Ensembl Gene ENSMUSG00000078776
Gene Name RIKEN cDNA 9530053A07 gene
Synonyms
MMRRC Submission 041719-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R4460 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 28129466-28164811 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28152856 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1268 (T1268I)
Ref Sequence ENSEMBL: ENSMUSP00000114986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059886] [ENSMUST00000150948]
AlphaFold E9PVG8
Predicted Effect probably benign
Transcript: ENSMUST00000059886
AA Change: T1268I

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000056479
Gene: ENSMUSG00000078776
AA Change: T1268I

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 benign
Transcript: ENSMUST00000150948
AA Change: T1268I

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114986
Gene: ENSMUSG00000078776
AA Change: T1268I

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik A G 5: 107,503,765 (GRCm38) T687A possibly damaging Het
C030048H21Rik A G 2: 26,255,863 (GRCm38) probably null Het
Cav1 A G 6: 17,306,472 (GRCm38) D8G probably damaging Het
Celf6 G A 9: 59,603,044 (GRCm38) R103H probably damaging Het
Ctr9 A G 7: 111,046,894 (GRCm38) I698V probably benign Het
Cts6 G C 13: 61,195,458 (GRCm38) I316M probably benign Het
Dnajc13 C A 9: 104,181,063 (GRCm38) R1496L probably damaging Het
Dscam A G 16: 96,610,319 (GRCm38) Y1786H probably damaging Het
Itga2 C G 13: 114,843,483 (GRCm38) D1061H probably damaging Het
Kirrel C T 3: 87,089,151 (GRCm38) M380I probably null Het
Klhl26 T C 8: 70,451,544 (GRCm38) Y538C probably damaging Het
Ltk A G 2: 119,755,613 (GRCm38) probably null Het
Med20 T C 17: 47,618,917 (GRCm38) V93A probably benign Het
Mmp9 G T 2: 164,949,038 (GRCm38) K115N probably damaging Het
Mroh5 A T 15: 73,791,796 (GRCm38) D339E probably damaging Het
Muc1 A T 3: 89,231,563 (GRCm38) D493V probably damaging Het
Mx1 G T 16: 97,454,081 (GRCm38) S113R probably damaging Het
Nlrp9c T A 7: 26,378,098 (GRCm38) H698L probably damaging Het
Nol9 T G 4: 152,057,836 (GRCm38) L641R probably damaging Het
Park2 A T 17: 12,061,646 (GRCm38) D463V probably damaging Het
Pla2g4e T G 2: 120,186,382 (GRCm38) H226P possibly damaging Het
Pou2f1 A G 1: 165,895,006 (GRCm38) F337L probably damaging Het
Ptcd1 G T 5: 145,159,506 (GRCm38) A259E probably benign Het
Ptov1 T C 7: 44,865,576 (GRCm38) M204V probably benign Het
Rasal2 A G 1: 157,175,832 (GRCm38) F419S possibly damaging Het
Rbbp8nl A G 2: 180,280,971 (GRCm38) S210P probably benign Het
Rgmb C A 17: 15,807,626 (GRCm38) R277L probably benign Het
Snx2 A G 18: 53,176,444 (GRCm38) E22G probably benign Het
Snx30 A T 4: 59,885,022 (GRCm38) R221* probably null Het
Tmem143 C T 7: 45,906,952 (GRCm38) T97I probably damaging Het
Ttn A C 2: 76,814,647 (GRCm38) F12955V probably damaging Het
Ubr2 C T 17: 46,945,045 (GRCm38) probably null Het
Vmn1r203 T A 13: 22,524,682 (GRCm38) M211K probably damaging Het
Vmn2r121 G A X: 124,128,584 (GRCm38) P580S probably benign Het
Zfp804b A T 5: 6,771,481 (GRCm38) D491E probably damaging 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
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
R9735:9530053A07Rik UTSW 7 28,157,010 (GRCm38) missense probably damaging 1.00
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'- GGCAGCAGCTCAAGAATATTGTC -3'
(R):5'- CAACGCTGGCCTTCTTAGAG -3'

Sequencing Primer
(F):5'- AGCAGCTCAAGAATATTGTCTCCTC -3'
(R):5'- GAGTCTTAGGTCCCACTAATCATAC -3'
Posted On 2015-07-21