Incidental Mutation 'R7811:Tbc1d10a'
ID 601176
Institutional Source Beutler Lab
Gene Symbol Tbc1d10a
Ensembl Gene ENSMUSG00000034412
Gene Name TBC1 domain family, member 10a
Synonyms Tbc1d10, EPI64
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7811 (G1)
Quality Score 213.009
Status Validated
Chromosome 11
Chromosomal Location 4186789-4215505 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4186948 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 54 (S54P)
Ref Sequence ENSEMBL: ENSMUSP00000036861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002198] [ENSMUST00000041042] [ENSMUST00000180088]
AlphaFold P58802
Predicted Effect probably benign
Transcript: ENSMUST00000002198
SMART Domains Protein: ENSMUSP00000002198
Gene: ENSMUSG00000002129

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
SWAP 50 103 4.99e-30 SMART
low complexity region 118 138 N/A INTRINSIC
SWAP 164 217 3.22e-24 SMART
Pfam:PRP21_like_P 227 469 7e-81 PFAM
low complexity region 552 560 N/A INTRINSIC
low complexity region 574 589 N/A INTRINSIC
low complexity region 624 673 N/A INTRINSIC
UBQ 713 784 6.52e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000041042
AA Change: S54P

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036861
Gene: ENSMUSG00000034412
AA Change: S54P

DomainStartEndE-ValueType
low complexity region 2 36 N/A INTRINSIC
TBC 142 359 6e-59 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000180088
AA Change: S20P

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136453
Gene: ENSMUSG00000034412
AA Change: S20P

DomainStartEndE-ValueType
TBC 108 325 6e-59 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,577,141 probably null Het
Abca3 A G 17: 24,397,388 T935A probably benign Het
Anxa7 A T 14: 20,460,186 Y399N probably benign Het
Arhgef10l G T 4: 140,515,024 T1030K possibly damaging Het
Ass1 G A 2: 31,514,741 V345I probably benign Het
Bms1 T C 6: 118,403,138 D736G probably damaging Het
Bpifb1 T A 2: 154,206,564 probably null Het
Cbx4 A C 11: 119,081,572 C326G probably benign Het
Ccdc188 A G 16: 18,218,450 E94G probably benign Het
Cdh5 A G 8: 104,125,603 T117A possibly damaging Het
Cdk11b A G 4: 155,639,902 T326A unknown Het
Clec5a C T 6: 40,581,933 C73Y probably damaging Het
Cntrl T C 2: 35,162,861 M1126T probably benign Het
Diaph3 T C 14: 86,981,624 D455G probably damaging Het
Eml2 T A 7: 19,186,122 M117K probably benign Het
Ern1 A T 11: 106,434,868 V112D unknown Het
Eya3 T C 4: 132,711,961 I466T possibly damaging Het
Fbxl6 T C 15: 76,537,285 probably null Het
Ffar1 A G 7: 30,861,377 S32P possibly damaging Het
Fgb T C 3: 83,049,697 D22G probably benign Het
Fsip2 T C 2: 82,998,453 Y6865H possibly damaging Het
Gbx1 T C 5: 24,505,037 E270G probably damaging Het
Golga4 T C 9: 118,532,575 L207P probably damaging Het
Hnrnpa1 T C 15: 103,241,473 S54P possibly damaging Het
Htr4 A G 18: 62,412,198 E18G possibly damaging Het
Ide A C 19: 37,330,511 L34R Het
Ip6k3 A T 17: 27,157,583 Y51* probably null Het
Keap1 A G 9: 21,237,660 L17P possibly damaging Het
Lrrn2 T C 1: 132,939,201 V668A probably benign Het
Lypd8 A T 11: 58,390,238 T209S possibly damaging Het
Myo10 T C 15: 25,804,524 I1635T probably damaging Het
Myo1e T A 9: 70,327,262 V299E probably damaging Het
Nadk A T 4: 155,576,875 probably benign Het
Nalcn A T 14: 123,298,945 W1231R probably damaging Het
Odf2l A G 3: 145,153,387 T602A probably benign Het
Olfr309 T A 7: 86,306,346 T256S probably damaging Het
Olfr457 T A 6: 42,471,701 E159V probably damaging Het
Pde6c T C 19: 38,140,059 V190A possibly damaging Het
Ppp4r3a C A 12: 101,053,562 R378L probably damaging Het
Pus7l A C 15: 94,540,826 V46G probably damaging Het
Satb2 G A 1: 56,845,721 S466L probably benign Het
Serpina6 A G 12: 103,654,136 M118T probably damaging Het
Slc29a1 T C 17: 45,586,263 R366G probably damaging Het
Slc6a1 T C 6: 114,302,554 F98S probably damaging Het
Spg7 T C 8: 123,097,425 I738T possibly damaging Het
Srcap T C 7: 127,542,049 V1667A probably damaging Het
Stxbp5 T C 10: 9,808,504 N574S probably benign Het
Syne2 A G 12: 75,983,727 probably null Het
Trim12c T C 7: 104,341,262 N336S unknown Het
Ubap2 T C 4: 41,211,710 S351G probably benign Het
Unc13c G T 9: 73,693,271 A1397E possibly damaging Het
Ush1c G A 7: 46,205,286 R681* probably null Het
Vmn2r57 A T 7: 41,425,015 C541* probably null Het
Vmn2r73 T C 7: 85,875,748 D64G possibly damaging Het
Vmn2r88 A T 14: 51,418,703 T790S Het
Zfp568 A G 7: 29,997,870 T72A possibly damaging Het
Zfp950 A T 19: 61,119,915 Y243* probably null Het
Zmym5 A G 14: 56,798,977 S238P probably damaging Het
Zswim5 A G 4: 116,877,476 E6G unknown Het
Other mutations in Tbc1d10a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Tbc1d10a APN 11 4212826 missense probably benign 0.14
IGL02354:Tbc1d10a APN 11 4215047 missense probably benign 0.00
IGL02361:Tbc1d10a APN 11 4215047 missense probably benign 0.00
IGL03382:Tbc1d10a APN 11 4209984 missense probably damaging 1.00
R0021:Tbc1d10a UTSW 11 4213680 missense probably damaging 1.00
R0021:Tbc1d10a UTSW 11 4213680 missense probably damaging 1.00
R0194:Tbc1d10a UTSW 11 4212901 critical splice donor site probably null
R0383:Tbc1d10a UTSW 11 4212819 missense probably damaging 0.98
R7388:Tbc1d10a UTSW 11 4205858 critical splice donor site probably null
R7432:Tbc1d10a UTSW 11 4213016 nonsense probably null
R8358:Tbc1d10a UTSW 11 4205837 missense probably damaging 1.00
R9147:Tbc1d10a UTSW 11 4186835 missense unknown
R9231:Tbc1d10a UTSW 11 4214885 missense probably damaging 1.00
R9475:Tbc1d10a UTSW 11 4213604 missense probably damaging 1.00
R9714:Tbc1d10a UTSW 11 4213683 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTTTGTGGCAGCCAATG -3'
(R):5'- GTAGAAAGTAGGCTGCCGCTTG -3'

Sequencing Primer
(F):5'- CAATGGGCACAGTGCGTGG -3'
(R):5'- CACGTTGGTGGGTCAGGC -3'
Posted On 2019-11-26