Incidental Mutation 'IGL01983:Tbc1d10c'
ID183520
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d10c
Ensembl Gene ENSMUSG00000040247
Gene NameTBC1 domain family, member 10c
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL01983
Quality Score
Status
Chromosome19
Chromosomal Location4184358-4191047 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4190709 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 34 (Q34L)
Ref Sequence ENSEMBL: ENSMUSP00000042660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025740] [ENSMUST00000045864] [ENSMUST00000046094]
Predicted Effect probably benign
Transcript: ENSMUST00000025740
SMART Domains Protein: ENSMUSP00000025740
Gene: ENSMUSG00000024824

DomainStartEndE-ValueType
Pfam:Rad9 13 265 6.6e-101 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000045864
AA Change: Q34L

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247
AA Change: Q34L

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,841,624 Q328* probably null Het
Alpk2 T C 18: 65,350,682 Y85C probably damaging Het
Arhgap31 C T 16: 38,601,765 R1313Q probably damaging Het
Chrnb1 G T 11: 69,795,729 R22S probably benign Het
Clec7a G A 6: 129,465,576 probably benign Het
Epb41l5 A G 1: 119,579,084 probably benign Het
Fam49b A G 15: 63,937,387 S251P probably benign Het
Gm10093 T A 17: 78,492,853 D424E probably benign Het
Hydin A C 8: 110,514,895 I2106L probably benign Het
Igkv3-5 T A 6: 70,663,686 D50E probably benign Het
Irf2bp1 G T 7: 19,005,295 A287S possibly damaging Het
Ldb3 G A 14: 34,577,199 S156L probably benign Het
Lnpep A T 17: 17,531,178 W942R probably damaging Het
Mst1r T A 9: 107,917,276 V1218D probably damaging Het
Naxd G T 8: 11,510,218 probably benign Het
Nol9 T C 4: 152,046,037 probably null Het
Nus1 T A 10: 52,436,657 L295Q probably damaging Het
Nxph2 A G 2: 23,399,934 I99M probably benign Het
Plekhg1 T A 10: 3,945,904 I432N probably damaging Het
Pon3 A G 6: 5,240,974 L69S probably damaging Het
Pram1 C A 17: 33,640,861 A134D probably damaging Het
Serpinb6c T A 13: 33,897,334 probably benign Het
Stk10 A T 11: 32,589,460 E280V probably benign Het
Tnr G A 1: 159,863,779 V500I probably benign Het
Trim66 G A 7: 109,458,251 R992* probably null Het
Unc45b A G 11: 82,936,861 D728G probably benign Het
Usp13 A G 3: 32,917,459 D696G probably damaging Het
Utrn C T 10: 12,669,781 V1707I probably benign Het
Vmn2r96 A T 17: 18,597,265 H368L probably damaging Het
Xrn1 T C 9: 95,973,368 probably null Het
Zfhx3 C A 8: 108,947,234 L1639M probably damaging Het
Znfx1 A T 2: 167,056,350 V218E probably damaging Het
Other mutations in Tbc1d10c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Tbc1d10c APN 19 4189027 missense probably damaging 1.00
IGL01550:Tbc1d10c APN 19 4184824 missense probably damaging 0.98
IGL02544:Tbc1d10c APN 19 4187960 missense probably benign 0.18
R4541:Tbc1d10c UTSW 19 4189474 missense probably damaging 1.00
R4831:Tbc1d10c UTSW 19 4185446 missense probably damaging 1.00
R5462:Tbc1d10c UTSW 19 4188053 missense probably benign 0.02
R5609:Tbc1d10c UTSW 19 4189882 missense possibly damaging 0.89
R5694:Tbc1d10c UTSW 19 4184964 missense probably damaging 1.00
R6046:Tbc1d10c UTSW 19 4185031 missense probably benign 0.00
R6462:Tbc1d10c UTSW 19 4184894 missense possibly damaging 0.85
R7326:Tbc1d10c UTSW 19 4184898 missense possibly damaging 0.74
R8033:Tbc1d10c UTSW 19 4188014 missense possibly damaging 0.51
Posted On2014-05-07