Incidental Mutation 'IGL02354:Tbc1d10a'
ID 289611
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 # IGL02354
Quality Score
Status
Chromosome 11
Chromosomal Location 4136789-4165505 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4165047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 500 (V500A)
Ref Sequence ENSEMBL: ENSMUSP00000036861 (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 benign
Transcript: ENSMUST00000041042
AA Change: V500A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036861
Gene: ENSMUSG00000034412
AA Change: V500A

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 probably benign
Transcript: ENSMUST00000180088
AA Change: V466A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136453
Gene: ENSMUSG00000034412
AA Change: V466A

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp1 A C 6: 55,322,498 (GRCm39) L164F possibly damaging Het
Bfsp1 T C 2: 143,673,907 (GRCm39) E261G probably damaging Het
Brinp2 A G 1: 158,074,748 (GRCm39) C458R probably damaging Het
Cacng3 T G 7: 122,271,169 (GRCm39) M58R possibly damaging Het
Cfap43 A T 19: 47,885,852 (GRCm39) C254* probably null Het
Cnga1 T C 5: 72,774,061 (GRCm39) probably null Het
Dis3 A T 14: 99,317,148 (GRCm39) Y765* probably null Het
Dpep1 T A 8: 123,926,957 (GRCm39) S260R probably benign Het
Elmod1 A G 9: 53,838,842 (GRCm39) L106P probably damaging Het
Fut10 A G 8: 31,691,398 (GRCm39) Y81C probably damaging Het
Fzd10 T A 5: 128,678,932 (GRCm39) D217E possibly damaging Het
Gap43 T C 16: 42,160,871 (GRCm39) probably benign Het
Gigyf1 T C 5: 137,517,989 (GRCm39) probably benign Het
Gpc5 C T 14: 115,370,699 (GRCm39) R175* probably null Het
Gpi-ps T C 8: 5,690,896 (GRCm39) noncoding transcript Het
Gpr61 A G 3: 108,057,534 (GRCm39) S376P probably damaging Het
Kcna1 C A 6: 126,619,869 (GRCm39) Q150H probably damaging Het
Lama5 A T 2: 179,835,677 (GRCm39) C1225* probably null Het
Lrrc25 A T 8: 71,070,477 (GRCm39) D86V probably benign Het
Madd A T 2: 90,992,543 (GRCm39) V1043E probably benign Het
Mov10 A T 3: 104,711,437 (GRCm39) probably benign Het
Mzb1 T A 18: 35,782,250 (GRCm39) H46L possibly damaging Het
Nos3 A T 5: 24,572,621 (GRCm39) I187F probably damaging Het
Or4c1 T A 2: 89,133,526 (GRCm39) M137L probably benign Het
Or5p53 T A 7: 107,533,484 (GRCm39) Y252* probably null Het
Or6c69c A G 10: 129,911,143 (GRCm39) Y288C probably damaging Het
Pgap1 T C 1: 54,551,975 (GRCm39) T486A probably benign Het
Prdm9 C T 17: 15,783,109 (GRCm39) V58M probably damaging Het
Prkd2 A G 7: 16,581,583 (GRCm39) Y146C probably damaging Het
Psmd9 G T 5: 123,386,379 (GRCm39) R175I probably damaging Het
Pxdn A G 12: 30,049,188 (GRCm39) D618G probably damaging Het
Rgs6 A T 12: 82,665,393 (GRCm39) probably benign Het
Rrm2 G T 12: 24,761,438 (GRCm39) probably benign Het
Sall1 G T 8: 89,759,677 (GRCm39) S142R probably benign Het
Shank3 T C 15: 89,388,536 (GRCm39) V376A probably damaging Het
Slc5a10 A G 11: 61,610,666 (GRCm39) probably null Het
Slfn3 A T 11: 83,104,068 (GRCm39) Q313L possibly damaging Het
Snapc4 A G 2: 26,257,319 (GRCm39) probably benign Het
Sptbn1 A T 11: 30,060,783 (GRCm39) F2062L probably damaging Het
Tcea1 T C 1: 4,966,570 (GRCm39) probably benign Het
Thsd7a T C 6: 12,348,192 (GRCm39) probably benign Het
Tm9sf4 C T 2: 153,029,570 (GRCm39) T173M probably benign Het
Tmtc2 T C 10: 105,107,387 (GRCm39) T709A probably benign Het
Zfp385b T C 2: 77,280,647 (GRCm39) E97G probably damaging Het
Zim1 A T 7: 6,685,873 (GRCm39) probably null Het
Other mutations in Tbc1d10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Tbc1d10a APN 11 4,162,826 (GRCm39) missense probably benign 0.14
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
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 2015-04-16