Incidental Mutation 'R9475:Tbc1d10a'
ID 715724
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 # R9475 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 4186789-4215505 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to C at 4213604 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 285 (K285N)
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 damaging
Transcript: ENSMUST00000041042
AA Change: K285N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036861
Gene: ENSMUSG00000034412
AA Change: K285N

DomainStartEndE-ValueType
low complexity region 2 36 N/A INTRINSIC
TBC 142 359 6e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000180088
AA Change: K251N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136453
Gene: ENSMUSG00000034412
AA Change: K251N

DomainStartEndE-ValueType
TBC 108 325 6e-59 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 46,016,468 W243R probably damaging Het
Ablim1 T G 19: 57,239,180 K18Q probably benign Het
Adamts18 T A 8: 113,777,938 N174Y possibly damaging Het
Agbl2 A G 2: 90,784,093 H23R probably benign Het
Akap6 T G 12: 53,010,552 Y934D probably damaging Het
Alas1 C T 9: 106,234,062 S635N probably benign Het
Ankrd24 A G 10: 81,642,299 probably null Het
Atp6v0a4 A G 6: 38,060,982 L560P probably damaging Het
Cacng1 C T 11: 107,716,292 V34M possibly damaging Het
Clcn3 C T 8: 60,934,517 A233T probably damaging Het
Cntnap3 A G 13: 64,799,135 F160S probably damaging Het
Ctnnd2 A G 15: 30,881,130 S719G probably damaging Het
Exosc2 G A 2: 31,674,743 V107I probably benign Het
Fam83b C A 9: 76,491,803 V673F probably benign Het
Fras1 T C 5: 96,780,070 F3781L probably damaging Het
Gal3st1 T A 11: 3,998,660 L289H probably damaging Het
Garem1 T C 18: 21,148,313 I329V probably benign Het
Gli3 G A 13: 15,725,711 G1228S possibly damaging Het
Gpbp1l1 T C 4: 116,574,361 F72S possibly damaging Het
Hao1 T A 2: 134,548,261 M53L probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,266,277 probably benign Het
Iqcm A G 8: 75,753,455 E347G probably damaging Het
Itpr3 G A 17: 27,118,677 probably benign Het
Kcnrg A G 14: 61,607,657 I49V possibly damaging Het
Lrrc8e G A 8: 4,235,346 G524S probably benign Het
Lrrn1 A T 6: 107,568,300 Y353F probably damaging Het
Mdn1 A G 4: 32,739,849 D3701G possibly damaging Het
Mtmr2 A G 9: 13,805,471 T623A probably benign Het
Ndst4 C A 3: 125,714,647 S287* probably null Het
Ntrk3 A C 7: 78,302,732 M579R probably benign Het
Oas1a G A 5: 120,899,254 L237F probably damaging Het
Olfr1350 A T 7: 6,570,819 Y276F probably damaging Het
Olfr169 T C 16: 19,566,520 D121G probably benign Het
Olfr857 T C 9: 19,713,643 M272T probably benign Het
Paqr5 T A 9: 61,956,225 I272F probably damaging Het
Pcdha11 T A 18: 37,007,538 V740E probably damaging Het
Pdgfra A C 5: 75,167,927 N240T possibly damaging Het
Plbd2 G A 5: 120,494,380 Q186* probably null Het
Plce1 G A 19: 38,777,893 E2121K possibly damaging Het
Ppargc1a C A 5: 51,495,738 G161C probably damaging Het
Ptprk T C 10: 28,334,480 I166T possibly damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 37,878,114 probably benign Het
Rpap2 T A 5: 107,620,589 L431Q probably damaging Het
Rslcan18 T A 13: 67,102,064 K160* probably null Het
Sema7a T C 9: 57,954,905 F180L probably benign Het
Sh2d3c C T 2: 32,753,027 L741F probably damaging Het
Shank1 G A 7: 44,312,918 S71N unknown Het
Skint6 C T 4: 112,806,840 probably null Het
Skiv2l A T 17: 34,841,102 D897E probably benign Het
Slc35f3 T C 8: 126,382,254 S181P probably damaging Het
Slc4a9 A T 18: 36,529,216 E127V probably null Het
Spata5 T C 3: 37,431,909 V260A probably benign Het
Speg C T 1: 75,388,091 T372I probably damaging Het
Syce1l A G 8: 113,655,103 T204A probably benign Het
Tas2r138 T A 6: 40,612,458 M285L probably benign Het
Trim9 T A 12: 70,346,454 M239L probably benign Het
Trp53bp1 A G 2: 121,209,280 S1293P probably benign Het
Uaca C T 9: 60,872,216 T1295M possibly damaging Het
Ubald1 G T 16: 4,875,569 Q161K possibly damaging Het
Ugt1a10 C T 1: 88,216,260 R201C probably damaging Het
Vps45 T G 3: 96,042,925 T231P probably damaging Het
Wdr17 A T 8: 54,635,477 D1186E probably benign Het
Zfp534 G A 4: 147,682,274 T8I probably benign Het
Zfp68 T C 5: 138,607,255 N269D probably benign 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
R7811:Tbc1d10a UTSW 11 4186948 missense possibly damaging 0.94
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
R9714:Tbc1d10a UTSW 11 4213683 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGTCCACGGACTATTTCAG -3'
(R):5'- ATGAGTTCAAGGAGGCTTGG -3'

Sequencing Primer
(F):5'- ACCGTCTTGTGTCTGGTCTGTC -3'
(R):5'- CTTGGGGCTTCTTTTGCAC -3'
Posted On 2022-06-15