Incidental Mutation 'R5609:Tbc1d10c'
ID 437997
Institutional Source Beutler Lab
Gene Symbol Tbc1d10c
Ensembl Gene ENSMUSG00000040247
Gene Name TBC1 domain family, member 10c
Synonyms 1810062O14Rik, Carabin
MMRRC Submission 043158-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R5609 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 4234356-4241194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4239881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 76 (M76I)
Ref Sequence ENSEMBL: ENSMUSP00000042660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045864] [ENSMUST00000046094]
AlphaFold Q8C9V1
Predicted Effect possibly damaging
Transcript: ENSMUST00000045864
AA Change: M76I

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247
AA Change: M76I

DomainStartEndE-ValueType
low complexity region 5 28 N/A INTRINSIC
TBC 87 301 7.1e-61 SMART
low complexity region 393 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000046094
SMART Domains Protein: ENSMUSP00000039109
Gene: ENSMUSG00000040385

DomainStartEndE-ValueType
PP2Ac 30 300 1.4e-164 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spontaneous T cell activation and increased B cell response to ovalbumin, NP-LPS and Borrelia burgdorferi infection, and increased autoimmune response to CpG-DNA. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,353,874 (GRCm39) I3732T probably benign Het
Ago1 C A 4: 126,354,830 (GRCm39) K127N possibly damaging Het
Akap8l T C 17: 32,557,374 (GRCm39) N79S probably damaging Het
Ano5 T C 7: 51,243,385 (GRCm39) L836P probably damaging Het
AY358078 A G 14: 52,042,065 (GRCm39) T147A unknown Het
Cabp4 T C 19: 4,189,251 (GRCm39) D102G probably benign Het
Cdc34 C T 10: 79,520,655 (GRCm39) R61C probably damaging Het
Chac1 A G 2: 119,181,887 (GRCm39) K2E unknown Het
Cltc C T 11: 86,621,093 (GRCm39) V305I probably damaging Het
Cog7 T C 7: 121,524,683 (GRCm39) T704A probably benign Het
Cux1 A G 5: 136,421,174 (GRCm39) V184A probably damaging Het
Daglb A T 5: 143,464,274 (GRCm39) T262S probably benign Het
Dglucy A G 12: 100,753,905 (GRCm39) I12V probably null Het
Dnah7a A G 1: 53,621,753 (GRCm39) V1124A probably benign Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Eif3k C A 7: 28,681,133 (GRCm39) A9S probably benign Het
Elapor1 T A 3: 108,378,731 (GRCm39) I408F probably damaging Het
Gli3 A T 13: 15,723,038 (GRCm39) M60L possibly damaging Het
Hk1 C T 10: 62,178,330 (GRCm39) E4K probably benign Het
Kmt2b C A 7: 30,276,570 (GRCm39) V1701L probably damaging Het
Lrp1b T C 2: 41,231,807 (GRCm39) H1107R probably damaging Het
Lypd10 A T 7: 24,413,711 (GRCm39) R242S possibly damaging Het
Ncor1 A G 11: 62,249,679 (GRCm39) probably null Het
Or5h23 T A 16: 58,906,439 (GRCm39) M136L possibly damaging Het
Or6c70 T G 10: 129,710,607 (GRCm39) R6S probably benign Het
Plekhg4 G A 8: 106,106,134 (GRCm39) probably null Het
Pmfbp1 G T 8: 110,251,739 (GRCm39) E327D probably damaging Het
Slc22a17 G A 14: 55,146,427 (GRCm39) P63L probably damaging Het
Slc37a1 G A 17: 31,556,982 (GRCm39) V383M possibly damaging Het
Slc9a9 T A 9: 94,691,990 (GRCm39) Y182N probably damaging Het
Slx4ip A G 2: 136,842,162 (GRCm39) D29G probably damaging Het
St3gal5 T C 6: 72,130,446 (GRCm39) V319A possibly damaging Het
Thrb C A 14: 18,033,526 (GRCm38) H416N probably benign Het
Timp2 T A 11: 118,210,987 (GRCm39) D60V probably damaging Het
Ubxn6 C T 17: 56,376,745 (GRCm39) E216K probably benign Het
Unc79 T C 12: 103,094,527 (GRCm39) M1977T probably benign Het
Uri1 G A 7: 37,662,954 (GRCm39) R347* probably null Het
Vmn1r73 G A 7: 11,490,591 (GRCm39) W136* probably null Het
Vmn2r124 T C 17: 18,294,102 (GRCm39) Y730H probably benign Het
Wnk4 C T 11: 101,166,462 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,468,679 (GRCm39) N2971D probably damaging Het
Other mutations in Tbc1d10c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Tbc1d10c APN 19 4,239,026 (GRCm39) missense probably damaging 1.00
IGL01550:Tbc1d10c APN 19 4,234,823 (GRCm39) missense probably damaging 0.98
IGL01983:Tbc1d10c APN 19 4,240,708 (GRCm39) missense possibly damaging 0.87
IGL02544:Tbc1d10c APN 19 4,237,959 (GRCm39) missense probably benign 0.18
R4541:Tbc1d10c UTSW 19 4,239,473 (GRCm39) missense probably damaging 1.00
R4831:Tbc1d10c UTSW 19 4,235,445 (GRCm39) missense probably damaging 1.00
R5462:Tbc1d10c UTSW 19 4,238,052 (GRCm39) missense probably benign 0.02
R5694:Tbc1d10c UTSW 19 4,234,963 (GRCm39) missense probably damaging 1.00
R6046:Tbc1d10c UTSW 19 4,235,030 (GRCm39) missense probably benign 0.00
R6462:Tbc1d10c UTSW 19 4,234,893 (GRCm39) missense possibly damaging 0.85
R7326:Tbc1d10c UTSW 19 4,234,897 (GRCm39) missense possibly damaging 0.74
R8033:Tbc1d10c UTSW 19 4,238,013 (GRCm39) missense possibly damaging 0.51
R8351:Tbc1d10c UTSW 19 4,234,744 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCTCTTGCTCTCAGGCACAG -3'
(R):5'- GTTTTAGGGGACAGCCAAATAGAC -3'

Sequencing Primer
(F):5'- GGCTGGCCTTTAACTCAGAAATC -3'
(R):5'- TGGGATTAAAGTGCTCCACC -3'
Posted On 2016-10-26