Incidental Mutation 'IGL00837:Tbc1d30'
ID14385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d30
Ensembl Gene ENSMUSG00000052302
Gene NameTBC1 domain family, member 30
Synonyms4930505D03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00837
Quality Score
Status
Chromosome10
Chromosomal Location121263820-121351278 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121296845 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 205 (I205V)
Ref Sequence ENSEMBL: ENSMUSP00000070488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064107]
Predicted Effect probably damaging
Transcript: ENSMUST00000064107
AA Change: I205V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302
AA Change: I205V

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
TBC 84 318 2.22e-30 SMART
low complexity region 392 403 N/A INTRINSIC
Pfam:DUF4682 475 613 4.3e-50 PFAM
low complexity region 623 633 N/A INTRINSIC
low complexity region 649 657 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218688
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 T C 6: 55,461,620 probably benign Het
Adig T A 2: 158,502,789 F16Y possibly damaging Het
Alox12e T C 11: 70,321,054 T210A probably benign Het
Ankfy1 T A 11: 72,755,898 probably benign Het
Aoc1 T A 6: 48,908,664 I701N possibly damaging Het
Armc1 A C 3: 19,144,420 N125K probably benign Het
Bcl2a1c A T 9: 114,330,492 T113S probably benign Het
Cdh10 A T 15: 19,013,404 I697L probably benign Het
Cep350 A T 1: 155,953,391 S256T probably damaging Het
Chd6 T C 2: 161,042,079 N82S probably benign Het
Gart T C 16: 91,638,720 probably benign Het
Gtf3c6 A G 10: 40,254,474 probably benign Het
Igf1r T C 7: 68,201,352 probably benign Het
Mtmr6 T A 14: 60,280,217 Y92* probably null Het
Muc13 A T 16: 33,807,959 K360* probably null Het
Nfyc A G 4: 120,781,547 probably benign Het
Pole T A 5: 110,302,009 V774E possibly damaging Het
Rnf217 A G 10: 31,503,774 L484P probably damaging Het
Slc18a2 A T 19: 59,284,384 I373F probably benign Het
Slc5a9 A G 4: 111,893,690 probably benign Het
Tfap2d A T 1: 19,119,206 D270V probably damaging Het
Tmem63c G A 12: 87,077,197 S483N probably benign Het
Tor1aip1 T A 1: 156,006,916 probably benign Het
Tsga10 A C 1: 37,801,911 probably benign Het
Ttc21b A T 2: 66,235,571 probably null Het
Wdr89 A T 12: 75,633,051 L143* probably null Het
Other mutations in Tbc1d30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Tbc1d30 APN 10 121266824 utr 3 prime probably benign
IGL01081:Tbc1d30 APN 10 121267414 missense probably damaging 1.00
IGL01813:Tbc1d30 APN 10 121267051 missense probably benign
IGL01844:Tbc1d30 APN 10 121267179 missense probably benign 0.01
R1782:Tbc1d30 UTSW 10 121267620 missense probably damaging 1.00
R1972:Tbc1d30 UTSW 10 121306230 splice site probably null
R2025:Tbc1d30 UTSW 10 121279146 missense probably benign 0.18
R2197:Tbc1d30 UTSW 10 121304407 missense probably damaging 1.00
R3752:Tbc1d30 UTSW 10 121272168 missense probably damaging 1.00
R4374:Tbc1d30 UTSW 10 121294712 missense probably damaging 1.00
R4540:Tbc1d30 UTSW 10 121279158 missense probably damaging 0.99
R4624:Tbc1d30 UTSW 10 121296786 missense probably damaging 0.99
R4960:Tbc1d30 UTSW 10 121267216 missense probably benign 0.04
R5170:Tbc1d30 UTSW 10 121306838 missense possibly damaging 0.49
R5566:Tbc1d30 UTSW 10 121302110 missense probably damaging 1.00
R5642:Tbc1d30 UTSW 10 121296787 missense probably damaging 1.00
R5726:Tbc1d30 UTSW 10 121267574 missense probably damaging 1.00
R6051:Tbc1d30 UTSW 10 121296845 missense probably damaging 1.00
R6364:Tbc1d30 UTSW 10 121294725 missense possibly damaging 0.95
R7106:Tbc1d30 UTSW 10 121301992 missense possibly damaging 0.94
R7233:Tbc1d30 UTSW 10 121272057 missense probably benign 0.35
R7256:Tbc1d30 UTSW 10 121288965 missense probably damaging 1.00
Posted On2012-12-06