Incidental Mutation 'R5401:9330159F19Rik'
ID 430001
Institutional Source Beutler Lab
Gene Symbol 9330159F19Rik
Ensembl Gene ENSMUSG00000004360
Gene Name RIKEN cDNA 9330159F19 gene
Synonyms
MMRRC Submission 042972-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5401 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 29087602-29106775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29101136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 503 (V503A)
Ref Sequence ENSEMBL: ENSMUSP00000151062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092627] [ENSMUST00000213489] [ENSMUST00000213490] [ENSMUST00000217011]
AlphaFold D3Z623
Predicted Effect probably benign
Transcript: ENSMUST00000092627
AA Change: V503A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000090291
Gene: ENSMUSG00000004360
AA Change: V503A

DomainStartEndE-ValueType
Pfam:DUF4482 15 152 3e-43 PFAM
low complexity region 270 286 N/A INTRINSIC
low complexity region 616 635 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213489
AA Change: V503A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000213490
Predicted Effect probably benign
Transcript: ENSMUST00000217011
Meta Mutation Damage Score 0.0982 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik A G 9: 39,962,338 (GRCm39) noncoding transcript Het
1700025H01Rik G T 16: 30,018,801 (GRCm39) noncoding transcript Het
Acacb A G 5: 114,347,914 (GRCm39) N995S possibly damaging Het
Anapc4 A G 5: 53,020,991 (GRCm39) K630R probably benign Het
Ankrd13a A C 5: 114,930,234 (GRCm39) Q206H probably damaging Het
Ano10 A T 9: 122,090,356 (GRCm39) L319Q probably damaging Het
Camkk2 T A 5: 122,884,398 (GRCm39) D341V probably damaging Het
Ccdc88a A G 11: 29,413,279 (GRCm39) I606V probably benign Het
Cdv3 G T 9: 103,242,316 (GRCm39) probably benign Het
Cep97 A G 16: 55,745,315 (GRCm39) V155A probably benign Het
Cmya5 T C 13: 93,228,476 (GRCm39) E2204G probably damaging Het
Cracr2b A G 7: 141,046,136 (GRCm39) *395W probably null Het
Defa27 A G 8: 21,805,710 (GRCm39) E50G possibly damaging Het
Dnah7a A G 1: 53,670,812 (GRCm39) I480T probably benign Het
Ep400 C A 5: 110,831,037 (GRCm39) D2210Y unknown Het
Fam170a T A 18: 50,413,618 (GRCm39) S28T probably benign Het
Fancc C A 13: 63,550,767 (GRCm39) K18N probably damaging Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Fndc8 T G 11: 82,788,676 (GRCm39) S169A possibly damaging Het
Get3 A T 8: 85,745,173 (GRCm39) I298N possibly damaging Het
Herc1 T C 9: 66,409,338 (GRCm39) Y4688H probably damaging Het
Ighv11-2 A T 12: 114,011,959 (GRCm39) D85E possibly damaging Het
Kat14 T C 2: 144,231,180 (GRCm39) F196L possibly damaging Het
Kctd19 C T 8: 106,109,617 (GRCm39) V942I probably benign Het
Llgl1 A G 11: 60,597,297 (GRCm39) S249G probably benign Het
Map1a T C 2: 121,130,153 (GRCm39) V323A probably damaging Het
Or4m1 C A 14: 50,557,566 (GRCm39) C242F probably damaging Het
Phf21a C A 2: 92,182,097 (GRCm39) T342K possibly damaging Het
Piezo2 T A 18: 63,217,811 (GRCm39) D1122V possibly damaging Het
Pklr A G 3: 89,049,173 (GRCm39) Y173C probably damaging Het
Plcz1 G T 6: 139,938,778 (GRCm39) probably null Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prom1 A T 5: 44,158,147 (GRCm39) Y845N probably damaging Het
Qng1 C A 13: 58,530,405 (GRCm39) A202S probably benign Het
Ret A T 6: 118,158,936 (GRCm39) S159T probably benign Het
Rfx1 C A 8: 84,793,005 (GRCm39) probably null Het
Scp2 A T 4: 108,001,976 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smad5 T C 13: 56,875,282 (GRCm39) F157L probably benign Het
Smarcc2 C A 10: 128,301,373 (GRCm39) D210E probably damaging Het
Sptlc3 T C 2: 139,478,643 (GRCm39) L534P possibly damaging Het
Srrm1 A G 4: 135,051,380 (GRCm39) probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Sugct T A 13: 17,032,455 (GRCm39) Q432H probably damaging Het
Tex9 A T 9: 72,394,060 (GRCm39) probably null Het
Tsc1 C A 2: 28,576,920 (GRCm39) S1073* probably null Het
Vmn1r72 T C 7: 11,403,843 (GRCm39) S202G probably damaging Het
Vmn2r55 A G 7: 12,385,871 (GRCm39) V703A probably benign Het
Vmn2r67 A T 7: 84,785,765 (GRCm39) Y747N probably damaging Het
Zcchc4 A G 5: 52,964,419 (GRCm39) I292V probably benign Het
Zfp998 T C 13: 66,579,722 (GRCm39) R254G probably benign Het
Zswim2 C T 2: 83,755,589 (GRCm39) G104E possibly damaging Het
Other mutations in 9330159F19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:9330159F19Rik APN 10 29,103,324 (GRCm39) missense probably benign 0.13
IGL01766:9330159F19Rik APN 10 29,100,557 (GRCm39) missense probably benign 0.00
IGL01896:9330159F19Rik APN 10 29,101,154 (GRCm39) missense possibly damaging 0.84
IGL01988:9330159F19Rik APN 10 29,101,107 (GRCm39) missense probably benign 0.08
IGL03007:9330159F19Rik APN 10 29,098,034 (GRCm39) missense possibly damaging 0.66
PIT1430001:9330159F19Rik UTSW 10 29,100,711 (GRCm39) missense probably damaging 1.00
R0256:9330159F19Rik UTSW 10 29,098,252 (GRCm39) missense probably damaging 1.00
R0490:9330159F19Rik UTSW 10 29,103,338 (GRCm39) missense probably damaging 0.99
R1755:9330159F19Rik UTSW 10 29,098,290 (GRCm39) missense possibly damaging 0.92
R1759:9330159F19Rik UTSW 10 29,094,272 (GRCm39) missense possibly damaging 0.51
R1836:9330159F19Rik UTSW 10 29,097,795 (GRCm39) missense probably damaging 0.98
R2373:9330159F19Rik UTSW 10 29,101,039 (GRCm39) missense probably benign 0.00
R2511:9330159F19Rik UTSW 10 29,097,902 (GRCm39) missense probably damaging 0.96
R3113:9330159F19Rik UTSW 10 29,100,372 (GRCm39) nonsense probably null
R3755:9330159F19Rik UTSW 10 29,098,110 (GRCm39) missense probably damaging 0.98
R3954:9330159F19Rik UTSW 10 29,100,805 (GRCm39) missense possibly damaging 0.92
R3956:9330159F19Rik UTSW 10 29,100,805 (GRCm39) missense possibly damaging 0.92
R3957:9330159F19Rik UTSW 10 29,100,805 (GRCm39) missense possibly damaging 0.92
R4321:9330159F19Rik UTSW 10 29,100,887 (GRCm39) missense probably damaging 1.00
R4510:9330159F19Rik UTSW 10 29,100,819 (GRCm39) missense probably benign
R4511:9330159F19Rik UTSW 10 29,100,819 (GRCm39) missense probably benign
R4717:9330159F19Rik UTSW 10 29,097,783 (GRCm39) missense probably damaging 1.00
R5336:9330159F19Rik UTSW 10 29,100,495 (GRCm39) missense probably damaging 0.98
R5585:9330159F19Rik UTSW 10 29,101,271 (GRCm39) missense possibly damaging 0.95
R5635:9330159F19Rik UTSW 10 29,094,273 (GRCm39) missense possibly damaging 0.93
R5647:9330159F19Rik UTSW 10 29,101,250 (GRCm39) missense probably damaging 0.99
R6831:9330159F19Rik UTSW 10 29,100,675 (GRCm39) missense probably benign 0.44
R7085:9330159F19Rik UTSW 10 29,100,476 (GRCm39) missense probably damaging 0.96
R7779:9330159F19Rik UTSW 10 29,101,316 (GRCm39) missense probably damaging 1.00
R7813:9330159F19Rik UTSW 10 29,100,896 (GRCm39) missense probably benign 0.41
R8209:9330159F19Rik UTSW 10 29,094,195 (GRCm39) missense probably damaging 0.99
R8224:9330159F19Rik UTSW 10 29,094,249 (GRCm39) missense probably damaging 1.00
R8226:9330159F19Rik UTSW 10 29,094,195 (GRCm39) missense probably damaging 0.99
R8492:9330159F19Rik UTSW 10 29,094,243 (GRCm39) missense possibly damaging 0.95
R8832:9330159F19Rik UTSW 10 29,100,341 (GRCm39) missense probably damaging 1.00
R9369:9330159F19Rik UTSW 10 29,100,974 (GRCm39) missense probably damaging 1.00
R9665:9330159F19Rik UTSW 10 29,103,344 (GRCm39) missense probably benign 0.03
R9722:9330159F19Rik UTSW 10 29,094,269 (GRCm39) missense probably benign 0.39
R9796:9330159F19Rik UTSW 10 29,101,349 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ACTGCAATTGTGAACCAACTCC -3'
(R):5'- TTTGATCTGGGATCCGCTGATC -3'

Sequencing Primer
(F):5'- TTGTGAACCAACTCCAAGGAATG -3'
(R):5'- TCTTGGCCGGCTAGAAAAATTGC -3'
Posted On 2016-09-06