Incidental Mutation 'R7826:Tbc1d30'
ID 602199
Institutional Source Beutler Lab
Gene Symbol Tbc1d30
Ensembl Gene ENSMUSG00000052302
Gene Name TBC1 domain family, member 30
Synonyms 4930505D03Rik
MMRRC Submission 045880-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7826 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 121099725-121187183 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121132710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 218 (L218H)
Ref Sequence ENSEMBL: ENSMUSP00000070488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064107]
AlphaFold Q69ZT9
Predicted Effect probably damaging
Transcript: ENSMUST00000064107
AA Change: L218H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302
AA Change: L218H

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
Meta Mutation Damage Score 0.5045 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajm1 C A 2: 25,468,477 (GRCm39) R478L possibly damaging Het
Arhgap27 T C 11: 103,229,153 (GRCm39) T521A probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Btbd9 A T 17: 30,553,301 (GRCm39) I387N probably benign Het
Ccdc27 C T 4: 154,123,958 (GRCm39) probably null Het
Ccdc88a A T 11: 29,453,563 (GRCm39) H1642L probably benign Het
Cd300c2 C T 11: 114,891,644 (GRCm39) V77I possibly damaging Het
Chrnb2 A T 3: 89,670,550 (GRCm39) S63T probably damaging Het
Dlgap2 C T 8: 14,793,410 (GRCm39) P467L probably benign Het
Dnah5 C T 15: 28,367,958 (GRCm39) T2781M probably damaging Het
Donson T C 16: 91,485,344 (GRCm39) D86G possibly damaging Het
Echs1 T A 7: 139,696,349 (GRCm39) probably benign Het
Epha8 C T 4: 136,663,498 (GRCm39) M483I probably benign Het
Eprs1 T G 1: 185,139,165 (GRCm39) V850G probably damaging Het
Fbxw5 C A 2: 25,392,561 (GRCm39) C114* probably null Het
Gm5160 C T 18: 14,558,129 (GRCm39) R69C probably benign Het
Gpr75 A G 11: 30,841,209 (GRCm39) H38R probably damaging Het
Igsf9 T C 1: 172,319,197 (GRCm39) V230A probably benign Het
Lonp2 C T 8: 87,435,641 (GRCm39) P626S probably damaging Het
Lrrtm1 G T 6: 77,221,095 (GRCm39) probably null Het
Man1a2 T C 3: 100,489,455 (GRCm39) E508G probably damaging Het
Mipep C A 14: 61,039,580 (GRCm39) A203E probably damaging Het
Mrc1 T A 2: 14,299,668 (GRCm39) C753S probably damaging Het
Mthfr A G 4: 148,139,467 (GRCm39) E568G probably benign Het
Naca T A 10: 127,879,479 (GRCm39) probably benign Het
Nek10 G A 14: 14,860,846 (GRCm38) probably null Het
Nf2 T C 11: 4,739,750 (GRCm39) T419A probably benign Het
Npas3 A G 12: 53,878,539 (GRCm39) T164A possibly damaging Het
Nudcd3 T A 11: 6,100,581 (GRCm39) I124F possibly damaging Het
Or8g33 A G 9: 39,337,423 (GRCm39) *315Q probably null Het
Pappa2 A T 1: 158,764,010 (GRCm39) C500* probably null Het
Pcdhb18 T A 18: 37,623,995 (GRCm39) S442T probably damaging Het
Phactr4 T C 4: 132,105,752 (GRCm39) N105D possibly damaging Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Pzp T C 6: 128,464,496 (GRCm39) T1344A probably benign Het
Ranbp9 T C 13: 43,573,097 (GRCm39) I312V possibly damaging Het
Rsf1 A G 7: 97,310,368 (GRCm39) probably benign Het
Slc6a4 A T 11: 76,903,851 (GRCm39) I150L probably benign Het
Smpd5 T C 15: 76,180,496 (GRCm39) S433P probably benign Het
Spats1 C T 17: 45,763,644 (GRCm39) D209N probably damaging Het
Spcs2 C T 7: 99,488,984 (GRCm39) G235R probably damaging Het
Sptlc3 T C 2: 139,389,115 (GRCm39) M165T probably benign Het
Synm T C 7: 67,385,337 (GRCm39) D775G probably damaging Het
Tango6 A G 8: 107,419,245 (GRCm39) D264G probably benign Het
Tmem132d A G 5: 127,866,953 (GRCm39) I649T probably damaging Het
Tmem145 T C 7: 25,006,939 (GRCm39) Y114H probably damaging Het
Triml1 A T 8: 43,591,803 (GRCm39) V185E possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn T G 2: 76,715,220 (GRCm39) probably benign Het
Utrn C T 10: 12,277,050 (GRCm39) probably null Het
Uty T C Y: 1,137,716 (GRCm39) K887E possibly damaging Het
Zfand2b T C 1: 75,145,502 (GRCm39) F3L possibly damaging Het
Zfp280d C A 9: 72,219,953 (GRCm39) Q243K possibly damaging Het
Zfp418 T C 7: 7,185,668 (GRCm39) F544L 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
IGL01844:Tbc1d30 APN 10 121,103,084 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- CTGGCAACCTGTTTCCATCCAG -3'
(R):5'- ACTTTGGTCAGCTGCTTCTG -3'

Sequencing Primer
(F):5'- CTGTTTCCATCCAGAAAGTAAACTC -3'
(R):5'- AGCTGCTTCTGTGTCTTTTTGC -3'
Posted On 2019-12-03