Incidental Mutation 'IGL01844:Tbc1d30'
ID 178133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d30
Ensembl Gene ENSMUSG00000052302
Gene Name TBC1 domain family, member 30
Synonyms 4930505D03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01844
Quality Score
Status
Chromosome 10
Chromosomal Location 121099725-121187183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121103084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 649 (D649E)
Ref Sequence ENSEMBL: ENSMUSP00000070488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064107]
AlphaFold Q69ZT9
Predicted Effect probably benign
Transcript: ENSMUST00000064107
AA Change: D649E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302
AA Change: D649E

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A G 17: 84,989,453 (GRCm39) I85T probably damaging Het
Amer2 A G 14: 60,617,356 (GRCm39) D391G possibly damaging Het
Atp13a3 A T 16: 30,180,781 (GRCm39) C83S probably benign Het
Bdh2 A T 3: 134,994,080 (GRCm39) Q54L probably benign Het
Cep128 A G 12: 90,975,628 (GRCm39) S1051P probably benign Het
Dop1a A G 9: 86,396,138 (GRCm39) T865A probably damaging Het
Epha8 C A 4: 136,658,360 (GRCm39) *1005L probably null Het
Etl4 T C 2: 20,811,493 (GRCm39) V1509A probably benign Het
Gucy1b1 T C 3: 81,953,833 (GRCm39) E161G possibly damaging Het
Hepacam T A 9: 37,291,912 (GRCm39) V80E probably damaging Het
Ireb2 A G 9: 54,772,641 (GRCm39) K24E probably benign Het
Itch T A 2: 155,014,467 (GRCm39) D101E possibly damaging Het
Itch T A 2: 155,014,406 (GRCm39) F81Y possibly damaging Het
Kctd16 A G 18: 40,390,373 (GRCm39) I115M probably damaging Het
Klf7 C A 1: 64,117,933 (GRCm39) Q221H probably benign Het
Kptn A G 7: 15,857,897 (GRCm39) T242A probably benign Het
Macf1 A G 4: 123,334,485 (GRCm39) F4420S probably benign Het
Mthfd2 A G 6: 83,288,792 (GRCm39) probably null Het
Mtrf1l A C 10: 5,764,112 (GRCm39) L284V probably null Het
Neb C T 2: 52,060,561 (GRCm39) V2259I probably benign Het
Or4c111 A T 2: 88,843,814 (GRCm39) V198E possibly damaging Het
Or9i14 A T 19: 13,792,180 (GRCm39) M258K possibly damaging Het
Padi1 A T 4: 140,556,746 (GRCm39) C154S probably damaging Het
Paxip1 T C 5: 27,956,036 (GRCm39) T903A probably benign Het
Phactr2 T A 10: 13,129,181 (GRCm39) L292F probably benign Het
Pkhd1l1 G A 15: 44,362,796 (GRCm39) probably benign Het
Pnpla7 T C 2: 24,940,985 (GRCm39) probably null Het
Rif1 T A 2: 52,002,555 (GRCm39) I2003K probably benign Het
Rxfp3 A T 15: 11,037,132 (GRCm39) V80E probably damaging Het
Sart3 T A 5: 113,883,709 (GRCm39) K768* probably null Het
Slc35f5 C T 1: 125,517,612 (GRCm39) T470I probably damaging Het
Smg8 A T 11: 86,971,102 (GRCm39) Y890N probably damaging Het
Spata31 T C 13: 65,068,968 (GRCm39) V372A possibly damaging Het
Tctn3 G A 19: 40,600,581 (GRCm39) T3I probably damaging Het
Tns3 G A 11: 8,387,177 (GRCm39) P1337S possibly damaging Het
Vmn2r15 T A 5: 109,434,135 (GRCm39) *856C probably null Het
Vmn2r61 A T 7: 41,909,639 (GRCm39) I55F probably benign Het
Zbtb41 C T 1: 139,375,065 (GRCm39) P842S probably benign Het
Zc3h13 A G 14: 75,581,209 (GRCm39) probably benign Het
Other mutations in Tbc1d30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Tbc1d30 APN 10 121,102,729 (GRCm39) utr 3 prime probably benign
IGL00837:Tbc1d30 APN 10 121,132,750 (GRCm39) missense probably damaging 1.00
IGL01081:Tbc1d30 APN 10 121,103,319 (GRCm39) missense probably damaging 1.00
IGL01813:Tbc1d30 APN 10 121,102,956 (GRCm39) missense probably benign
R1782:Tbc1d30 UTSW 10 121,103,525 (GRCm39) missense probably damaging 1.00
R1972:Tbc1d30 UTSW 10 121,142,135 (GRCm39) splice site probably null
R2025:Tbc1d30 UTSW 10 121,115,051 (GRCm39) missense probably benign 0.18
R2197:Tbc1d30 UTSW 10 121,140,312 (GRCm39) missense probably damaging 1.00
R3752:Tbc1d30 UTSW 10 121,108,073 (GRCm39) missense probably damaging 1.00
R4374:Tbc1d30 UTSW 10 121,130,617 (GRCm39) missense probably damaging 1.00
R4540:Tbc1d30 UTSW 10 121,115,063 (GRCm39) missense probably damaging 0.99
R4624:Tbc1d30 UTSW 10 121,132,691 (GRCm39) missense probably damaging 0.99
R4960:Tbc1d30 UTSW 10 121,103,121 (GRCm39) missense probably benign 0.04
R5170:Tbc1d30 UTSW 10 121,142,743 (GRCm39) missense possibly damaging 0.49
R5566:Tbc1d30 UTSW 10 121,138,015 (GRCm39) missense probably damaging 1.00
R5642:Tbc1d30 UTSW 10 121,132,692 (GRCm39) missense probably damaging 1.00
R5726:Tbc1d30 UTSW 10 121,103,479 (GRCm39) missense probably damaging 1.00
R6051:Tbc1d30 UTSW 10 121,132,750 (GRCm39) missense probably damaging 1.00
R6364:Tbc1d30 UTSW 10 121,130,630 (GRCm39) missense possibly damaging 0.95
R7106:Tbc1d30 UTSW 10 121,137,897 (GRCm39) missense possibly damaging 0.94
R7233:Tbc1d30 UTSW 10 121,107,962 (GRCm39) missense probably benign 0.35
R7256:Tbc1d30 UTSW 10 121,124,870 (GRCm39) missense probably damaging 1.00
R7826:Tbc1d30 UTSW 10 121,132,710 (GRCm39) missense probably damaging 1.00
R7910:Tbc1d30 UTSW 10 121,183,061 (GRCm39) nonsense probably null
R7958:Tbc1d30 UTSW 10 121,107,962 (GRCm39) missense probably benign 0.35
R7978:Tbc1d30 UTSW 10 121,142,104 (GRCm39) missense probably damaging 1.00
R8021:Tbc1d30 UTSW 10 121,103,448 (GRCm39) missense probably benign 0.09
R8394:Tbc1d30 UTSW 10 121,183,013 (GRCm39) nonsense probably null
R8472:Tbc1d30 UTSW 10 121,187,009 (GRCm39) missense probably benign 0.00
R8532:Tbc1d30 UTSW 10 121,103,335 (GRCm39) missense probably damaging 1.00
R8887:Tbc1d30 UTSW 10 121,187,059 (GRCm39) missense possibly damaging 0.45
R9124:Tbc1d30 UTSW 10 121,132,716 (GRCm39) missense probably damaging 0.99
R9186:Tbc1d30 UTSW 10 121,111,639 (GRCm39) missense probably benign
R9282:Tbc1d30 UTSW 10 121,142,128 (GRCm39) critical splice acceptor site probably null
R9342:Tbc1d30 UTSW 10 121,103,366 (GRCm39) nonsense probably null
R9531:Tbc1d30 UTSW 10 121,183,105 (GRCm39) missense probably damaging 1.00
R9665:Tbc1d30 UTSW 10 121,102,886 (GRCm39) missense possibly damaging 0.83
R9799:Tbc1d30 UTSW 10 121,142,074 (GRCm39) missense possibly damaging 0.55
R9803:Tbc1d30 UTSW 10 121,107,980 (GRCm39) missense probably damaging 1.00
Z1176:Tbc1d30 UTSW 10 121,138,018 (GRCm39) missense probably damaging 1.00
Z1177:Tbc1d30 UTSW 10 121,186,969 (GRCm39) missense probably benign 0.09
Posted On 2014-05-07