Incidental Mutation 'IGL01082:Tbc1d10c'
ID 53230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d10c
Ensembl Gene ENSMUSG00000040247
Gene Name TBC1 domain family, member 10c
Synonyms 1810062O14Rik, Carabin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL01082
Quality Score
Status
Chromosome 19
Chromosomal Location 4234356-4241194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4239026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 165 (Y165H)
Ref Sequence ENSEMBL: ENSMUSP00000042660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045864] [ENSMUST00000046094]
AlphaFold Q8C9V1
Predicted Effect probably damaging
Transcript: ENSMUST00000045864
AA Change: Y165H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247
AA Change: Y165H

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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,353,273 (GRCm39) S723F probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Ccdc116 A G 16: 16,959,856 (GRCm39) S278P probably damaging Het
Cep152 A T 2: 125,411,465 (GRCm39) probably benign Het
Cftr T C 6: 18,226,102 (GRCm39) V350A probably damaging Het
Dsc2 A T 18: 20,176,849 (GRCm39) N399K probably damaging Het
Eif3d T C 15: 77,843,943 (GRCm39) T468A probably damaging Het
Fam110b C T 4: 5,799,461 (GRCm39) A293V possibly damaging Het
Flrt1 T C 19: 7,073,339 (GRCm39) T403A probably benign Het
H3c6 A G 13: 23,746,548 (GRCm39) probably benign Het
Ift140 T A 17: 25,267,429 (GRCm39) V609E possibly damaging Het
Klb G A 5: 65,533,283 (GRCm39) V531I possibly damaging Het
Krt73 T C 15: 101,707,372 (GRCm39) probably null Het
Mcm2 A G 6: 88,864,859 (GRCm39) V539A probably benign Het
Myb A G 10: 21,028,843 (GRCm39) V85A probably damaging Het
Ndufs1 T C 1: 63,203,976 (GRCm39) E102G probably damaging Het
Nr5a2 C A 1: 136,773,206 (GRCm39) A499S probably benign Het
Opa1 A T 16: 29,436,933 (GRCm39) probably benign Het
Or14j5 T A 17: 38,161,514 (GRCm39) S10R probably benign Het
Or4a47 A T 2: 89,674,407 (GRCm39) probably benign Het
Or4c11b T C 2: 88,625,637 (GRCm39) F304L probably benign Het
Pcnx1 G A 12: 82,037,372 (GRCm39) E1877K possibly damaging Het
Sel1l A G 12: 91,778,682 (GRCm39) V711A probably benign Het
Slc22a16 A G 10: 40,449,860 (GRCm39) T120A probably benign Het
Slc26a1 G T 5: 108,819,744 (GRCm39) T485N possibly damaging Het
Sp100 T C 1: 85,597,741 (GRCm39) V201A possibly damaging Het
Spz1 T G 13: 92,712,029 (GRCm39) K149T probably damaging Het
Stxbp5l A G 16: 37,024,940 (GRCm39) S553P possibly damaging Het
Szt2 A G 4: 118,254,821 (GRCm39) S290P probably damaging Het
Tnxb C A 17: 34,933,584 (GRCm39) Q2335K probably damaging Het
Trim33 T C 3: 103,234,175 (GRCm39) I471T possibly damaging Het
Vsig10 A G 5: 117,472,970 (GRCm39) I188V probably benign Het
Zfp109 A T 7: 23,933,784 (GRCm39) L45Q probably damaging Het
Other mutations in Tbc1d10c
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5609:Tbc1d10c UTSW 19 4,239,881 (GRCm39) missense possibly damaging 0.89
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
Posted On 2013-06-21