Incidental Mutation 'R0021:Tbc1d10a'
ID 8362
Institutional Source Beutler Lab
Gene Symbol Tbc1d10a
Ensembl Gene ENSMUSG00000034412
Gene Name TBC1 domain family, member 10a
Synonyms EPI64, Tbc1d10
MMRRC Submission 038316-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0021 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 4136789-4165505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4163680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 277 (C277R)
Ref Sequence ENSEMBL: ENSMUSP00000136453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020699] [ENSMUST00000041042] [ENSMUST00000180088]
AlphaFold P58802
Predicted Effect probably benign
Transcript: ENSMUST00000020699
SMART Domains Protein: ENSMUSP00000020699
Gene: ENSMUSG00000020424

DomainStartEndE-ValueType
Pfam:ACT_7 71 138 1.3e-19 PFAM
Pfam:ACT_7 257 321 3.1e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041042
AA Change: C311R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036861
Gene: ENSMUSG00000034412
AA Change: C311R

DomainStartEndE-ValueType
low complexity region 2 36 N/A INTRINSIC
TBC 142 359 6e-59 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151672
Predicted Effect probably damaging
Transcript: ENSMUST00000180088
AA Change: C277R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136453
Gene: ENSMUSG00000034412
AA Change: C277R

DomainStartEndE-ValueType
TBC 108 325 6e-59 SMART
Meta Mutation Damage Score 0.9673 question?
Coding Region Coverage
  • 1x: 84.2%
  • 3x: 78.9%
  • 10x: 65.7%
  • 20x: 50.3%
Validation Efficiency 96% (92/96)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating LDL cholesterol levels, decreased circulating alanine transaminase and alkaline phosphatase levels, abnormal liver physiology, and increased chromosomal stability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik A G 7: 44,326,620 (GRCm39) noncoding transcript Het
Abcc5 T A 16: 20,197,411 (GRCm39) K647* probably null Het
Aplp1 A G 7: 30,135,241 (GRCm39) probably benign Het
Baiap3 T C 17: 25,462,643 (GRCm39) E1105G probably damaging Het
Brinp3 T G 1: 146,777,189 (GRCm39) S545R probably benign Het
Btnl1 A G 17: 34,598,468 (GRCm39) E28G probably benign Het
Ccr6 G A 17: 8,475,598 (GRCm39) V268M possibly damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
D630045J12Rik G A 6: 38,160,902 (GRCm39) Q1081* probably null Het
Dhx15 T C 5: 52,314,830 (GRCm39) T626A probably damaging Het
Dhx36 T C 3: 62,385,016 (GRCm39) I699V possibly damaging Het
Dnah9 A G 11: 65,860,805 (GRCm39) I2855T probably benign Het
Duxf4 C A 10: 58,071,385 (GRCm39) E276D probably benign Het
Fsip2 T A 2: 82,830,201 (GRCm39) probably benign Het
Galnt11 A T 5: 25,453,855 (GRCm39) D27V probably damaging Het
Gm5134 T A 10: 75,829,718 (GRCm39) C335S probably damaging Het
Hdhd2 A T 18: 77,058,311 (GRCm39) K227N probably damaging Het
Itgb4 A T 11: 115,870,453 (GRCm39) D94V possibly damaging Het
Krtcap3 A G 5: 31,410,303 (GRCm39) H227R probably benign Het
Macf1 T C 4: 123,369,370 (GRCm39) H232R probably damaging Het
Map2k4 A G 11: 65,603,110 (GRCm39) I174T probably damaging Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Mcm9 G A 10: 53,413,997 (GRCm39) T1099I possibly damaging Het
Nkapd1 A C 9: 50,521,725 (GRCm39) D65E probably damaging Het
Nqo2 T C 13: 34,165,490 (GRCm39) I129T probably benign Het
Pdgfrb T A 18: 61,197,998 (GRCm39) probably benign Het
Phf7 C T 14: 30,960,443 (GRCm39) probably benign Het
Plac8 T A 5: 100,704,434 (GRCm39) T88S probably benign Het
Prss52 T G 14: 64,341,857 (GRCm39) V16G probably benign Het
Psmb9 G A 17: 34,403,277 (GRCm39) A80V probably benign Het
Ptprk T A 10: 28,468,891 (GRCm39) V1425E probably damaging Het
Scart2 G A 7: 139,876,310 (GRCm39) R594H probably benign Het
Scn2a T C 2: 65,500,859 (GRCm39) V7A possibly damaging Het
Serpini1 T C 3: 75,526,620 (GRCm39) Y291H probably damaging Het
Setd6 A G 8: 96,443,293 (GRCm39) K19E probably damaging Het
Siah2 T C 3: 58,583,713 (GRCm39) H191R probably benign Het
Slc27a2 T C 2: 126,409,806 (GRCm39) probably benign Het
Trim55 A C 3: 19,698,866 (GRCm39) M32L probably benign Het
Unc5b T C 10: 60,614,698 (GRCm39) T200A probably benign Het
Wrap53 A T 11: 69,454,712 (GRCm39) M219K probably damaging Het
Zfp790 G A 7: 29,525,113 (GRCm39) probably benign Het
Other mutations in Tbc1d10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Tbc1d10a APN 11 4,162,826 (GRCm39) missense probably benign 0.14
IGL02354:Tbc1d10a APN 11 4,165,047 (GRCm39) missense probably benign 0.00
IGL02361:Tbc1d10a APN 11 4,165,047 (GRCm39) missense probably benign 0.00
IGL03382:Tbc1d10a APN 11 4,159,984 (GRCm39) missense probably damaging 1.00
R0021:Tbc1d10a UTSW 11 4,163,680 (GRCm39) missense probably damaging 1.00
R0194:Tbc1d10a UTSW 11 4,162,901 (GRCm39) critical splice donor site probably null
R0383:Tbc1d10a UTSW 11 4,162,819 (GRCm39) missense probably damaging 0.98
R7388:Tbc1d10a UTSW 11 4,155,858 (GRCm39) critical splice donor site probably null
R7432:Tbc1d10a UTSW 11 4,163,016 (GRCm39) nonsense probably null
R7811:Tbc1d10a UTSW 11 4,136,948 (GRCm39) missense possibly damaging 0.94
R8358:Tbc1d10a UTSW 11 4,155,837 (GRCm39) missense probably damaging 1.00
R9147:Tbc1d10a UTSW 11 4,136,835 (GRCm39) missense unknown
R9231:Tbc1d10a UTSW 11 4,164,885 (GRCm39) missense probably damaging 1.00
R9475:Tbc1d10a UTSW 11 4,163,604 (GRCm39) missense probably damaging 1.00
R9714:Tbc1d10a UTSW 11 4,163,683 (GRCm39) missense probably damaging 1.00
Posted On 2012-11-27