Incidental Mutation 'IGL03382:Tbc1d10a'
ID 420736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d10a
Ensembl Gene ENSMUSG00000034412
Gene Name TBC1 domain family, member 10a
Synonyms EPI64, Tbc1d10
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03382
Quality Score
Status
Chromosome 11
Chromosomal Location 4136789-4165505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4159984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 123 (Y123C)
Ref Sequence ENSEMBL: ENSMUSP00000136453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041042] [ENSMUST00000180088]
AlphaFold P58802
Predicted Effect probably damaging
Transcript: ENSMUST00000041042
AA Change: Y157C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036861
Gene: ENSMUSG00000034412
AA Change: Y157C

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: Y123C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136453
Gene: ENSMUSG00000034412
AA Change: Y123C

DomainStartEndE-ValueType
TBC 108 325 6e-59 SMART
Coding Region Coverage
Validation Efficiency
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
Aff1 A G 5: 103,988,926 (GRCm39) D831G possibly damaging Het
Amer2 A G 14: 60,617,331 (GRCm39) K509E possibly damaging Het
Ankrd6 T C 4: 32,808,771 (GRCm39) K449E probably damaging Het
Atp8b2 G A 3: 89,855,828 (GRCm39) P459L probably benign Het
Atr C T 9: 95,802,875 (GRCm39) R1846* probably null Het
Brd10 C T 19: 29,694,676 (GRCm39) G1606R probably damaging Het
Ccdc159 C A 9: 21,842,992 (GRCm39) probably null Het
Ccna1 A C 3: 54,954,698 (GRCm39) Y338D probably damaging Het
Cpq A T 15: 33,213,089 (GRCm39) E36V probably damaging Het
Cyp2c23 A G 19: 44,003,371 (GRCm39) I268T probably damaging Het
Dctn2 G T 10: 127,114,057 (GRCm39) Q332H probably damaging Het
Dnah17 T A 11: 117,972,769 (GRCm39) I2055F probably damaging Het
Dnmt3b A G 2: 153,528,279 (GRCm39) H764R probably damaging Het
Gphn T A 12: 78,528,087 (GRCm39) I135K probably damaging Het
Hnrnpul1 A G 7: 25,450,409 (GRCm39) M1T probably null Het
Htra4 T C 8: 25,519,714 (GRCm39) D406G probably benign Het
Klk10 G T 7: 43,433,883 (GRCm39) probably benign Het
Lilrb4a T A 10: 51,367,616 (GRCm39) W53R probably benign Het
Magel2 T C 7: 62,028,461 (GRCm39) V455A probably benign Het
Mrgprb5 T C 7: 47,818,442 (GRCm39) T98A probably benign Het
Mrps35 T A 6: 146,951,373 (GRCm39) C76* probably null Het
Myh7b C T 2: 155,465,399 (GRCm39) R701C probably damaging Het
Nbeal1 G A 1: 60,300,745 (GRCm39) probably null Het
Neb T A 2: 52,215,720 (GRCm39) M196L probably benign Het
Nmd3 A G 3: 69,642,421 (GRCm39) K207R probably damaging Het
Plxna4 C T 6: 32,179,129 (GRCm39) R962Q probably benign Het
Pom121 T C 5: 135,421,261 (GRCm39) K230E unknown Het
Psme4 A G 11: 30,757,788 (GRCm39) D307G possibly damaging Het
Rnf41 T G 10: 128,274,149 (GRCm39) M267R possibly damaging Het
Sis T C 3: 72,836,052 (GRCm39) N846D probably benign Het
Slc22a19 T A 19: 7,659,227 (GRCm39) I463L probably benign Het
Slc25a39 A T 11: 102,297,030 (GRCm39) probably null Het
Slc35b2 C T 17: 45,877,571 (GRCm39) R233C probably damaging Het
Slc4a4 T C 5: 89,376,695 (GRCm39) L983P probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Thbs4 A C 13: 92,906,056 (GRCm39) I395S probably benign Het
Triml2 A G 8: 43,646,776 (GRCm39) T422A probably benign Het
Ubn2 T C 6: 38,417,382 (GRCm39) probably benign Het
Vmn1r15 T A 6: 57,235,555 (GRCm39) M141K probably benign Het
Vmn2r80 A G 10: 79,005,362 (GRCm39) E333G probably damaging Het
Zfp169 T C 13: 48,644,639 (GRCm39) probably benign Het
Zfp942 G A 17: 22,148,083 (GRCm39) P182L 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
R0021:Tbc1d10a UTSW 11 4,163,680 (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 2016-08-02