Incidental Mutation 'IGL01550:Tbc1d10c'
ID90578
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: 0.151) question?
Stock #IGL01550
Quality Score
Status
Chromosome19
Chromosomal Location4184358-4191047 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 4184824 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 413 (T413A)
Ref Sequence ENSEMBL: ENSMUSP00000042660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045864]
Predicted Effect probably damaging
Transcript: ENSMUST00000045864
AA Change: T413A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247
AA Change: T413A

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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T G 11: 3,937,974 R137S unknown Het
Epha8 G T 4: 136,931,740 Q868K possibly damaging Het
Erc1 T A 6: 119,783,394 M386L probably damaging Het
Gfpt2 T A 11: 49,824,323 probably null Het
Gm14124 T A 2: 150,266,443 probably benign Het
Gpr142 T A 11: 114,804,326 L39Q probably damaging Het
Hmcn1 A T 1: 150,598,397 W4765R probably damaging Het
Hmcn2 A T 2: 31,424,252 E3603V possibly damaging Het
Hsp90b1 C T 10: 86,704,370 D26N probably benign Het
Kmt2c T C 5: 25,281,276 T4760A probably damaging Het
Lmo7 C A 14: 101,926,140 probably benign Het
Mup4 A T 4: 59,960,120 I48K probably damaging Het
Mylk3 T A 8: 85,365,089 D29V probably damaging Het
Myo1b A G 1: 51,784,531 F405S probably damaging Het
Nbea T C 3: 55,805,248 D2136G possibly damaging Het
Olfr243 T G 7: 103,716,997 H134Q probably damaging Het
Olfr364-ps1 A T 2: 37,146,974 Y254F probably damaging Het
Olfr869 A T 9: 20,137,454 T113S probably damaging Het
Olfr996 T A 2: 85,579,531 C97* probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rpp40 T C 13: 35,906,200 probably null Het
Samd7 T A 3: 30,765,250 S383T probably damaging Het
Tlr12 A G 4: 128,615,742 L905P probably damaging Het
Tnr A G 1: 159,874,258 K643R probably benign Het
Vmn2r124 T C 17: 18,063,355 probably null Het
Vwf A T 6: 125,679,289 I2606F probably benign Het
Wbp4 T C 14: 79,466,334 T258A probably benign Het
Zfp758 T C 17: 22,375,040 L137S probably damaging Het
Other mutations in Tbc1d10c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Tbc1d10c APN 19 4189027 missense probably damaging 1.00
IGL01983:Tbc1d10c APN 19 4190709 missense possibly damaging 0.87
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 On2013-12-09