Incidental Mutation 'R6462:Tbc1d10c'
ID 517659
Institutional Source Beutler Lab
Gene Symbol Tbc1d10c
Ensembl Gene ENSMUSG00000040247
Gene Name TBC1 domain family, member 10c
Synonyms 1810062O14Rik, Carabin
MMRRC Submission 044596-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R6462 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4234356-4241194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4234893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 389 (I389M)
Ref Sequence ENSEMBL: ENSMUSP00000042660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045864]
AlphaFold Q8C9V1
Predicted Effect possibly damaging
Transcript: ENSMUST00000045864
AA Change: I389M

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247
AA Change: I389M

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.6%
Validation Efficiency 95% (37/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc1a C T 5: 145,045,197 (GRCm39) S362F probably benign Het
Brd9 C T 13: 74,088,788 (GRCm39) A171V probably damaging Het
Camta1 A G 4: 151,170,621 (GRCm39) V62A probably damaging Het
Cdc5l G A 17: 45,703,975 (GRCm39) R750C probably benign Het
Ctdp1 C T 18: 80,463,689 (GRCm39) E116K probably damaging Het
Dync2i1 T C 12: 116,193,251 (GRCm39) N567S probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epor T C 9: 21,870,551 (GRCm39) E443G probably benign Het
Fam90a1a A T 8: 22,449,298 (GRCm39) Q14L probably benign Het
Herc4 T C 10: 63,124,880 (GRCm39) L498P probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Lmod2 T G 6: 24,604,300 (GRCm39) V425G probably benign Het
Ly6c1 T A 15: 74,916,178 (GRCm39) probably benign Het
Me2 C A 18: 73,908,470 (GRCm39) V490F probably benign Het
Mllt3 T C 4: 87,692,338 (GRCm39) T27A probably damaging Het
Mmp1a T C 9: 7,467,039 (GRCm39) Y239H probably benign Het
Mycbp2 A G 14: 103,373,993 (GRCm39) probably null Het
Myo15b A C 11: 115,750,268 (GRCm39) E346A probably benign Het
Myo3a T C 2: 22,448,423 (GRCm39) F66S probably damaging Het
Ncor2 T C 5: 125,101,236 (GRCm39) Y137C probably damaging Het
Nup98 A T 7: 101,844,223 (GRCm39) F37L probably benign Het
Odf2l T G 3: 144,852,672 (GRCm39) L472R probably damaging Het
Or10al2 T C 17: 37,983,111 (GRCm39) Y66H probably damaging Het
P4ha3 T A 7: 99,963,873 (GRCm39) I463N probably damaging Het
Pappa C A 4: 65,043,128 (GRCm39) T117K probably damaging Het
Ppme1 C A 7: 99,987,599 (GRCm39) R271M probably benign Het
Rps6ka4 T G 19: 6,814,957 (GRCm39) E249A possibly damaging Het
Rxfp1 T A 3: 79,555,596 (GRCm39) I587F probably benign Het
Sipa1l2 A G 8: 126,217,969 (GRCm39) V456A probably damaging Het
Slc25a23 T A 17: 57,359,720 (GRCm39) I344F probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tep1 A G 14: 51,081,836 (GRCm39) F1205L probably benign Het
Tgfbr1 T A 4: 47,402,846 (GRCm39) H214Q probably damaging Het
Traf3ip2 T A 10: 39,515,243 (GRCm39) N340K probably benign Het
Zbbx T C 3: 74,985,966 (GRCm39) E362G probably benign Het
Zfp46 A C 4: 136,017,924 (GRCm39) T253P 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
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
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'- TGGCACTAAGTGTATGGTGC -3'
(R):5'- CCAGGCAAAGTTAGCATCAACTG -3'

Sequencing Primer
(F):5'- CACTTAGAATCGGGTGTCCAG -3'
(R):5'- AGGTGCACAGTGTAACCCTGTC -3'
Posted On 2018-05-21