Incidental Mutation 'R8351:Tbc1d10c'
ID 660511
Institutional Source Beutler Lab
Gene Symbol Tbc1d10c
Ensembl Gene ENSMUSG00000040247
Gene Name TBC1 domain family, member 10c
Synonyms 1810062O14Rik, Carabin
MMRRC Submission 067804-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R8351 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4234356-4241194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4234744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 439 (F439S)
Ref Sequence ENSEMBL: ENSMUSP00000042660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045864]
AlphaFold Q8C9V1
Predicted Effect probably damaging
Transcript: ENSMUST00000045864
AA Change: F439S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247
AA Change: F439S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (41/41)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agpat3 A T 10: 78,110,086 (GRCm39) Y288N probably damaging Het
Ano5 A G 7: 51,203,626 (GRCm39) K225E probably benign Het
Apob A G 12: 8,056,356 (GRCm39) T1613A probably benign Het
Ascc3 A G 10: 50,725,693 (GRCm39) T2139A probably benign Het
Asnsd1 A T 1: 53,386,172 (GRCm39) probably null Het
Atp23 C T 10: 126,723,407 (GRCm39) A232T probably damaging Het
Cd8b1 G A 6: 71,306,777 (GRCm39) probably null Het
Cep295 G A 9: 15,234,202 (GRCm39) T2198I probably damaging Het
Col12a1 G T 9: 79,588,694 (GRCm39) N1140K probably damaging Het
Cyp2f2 A G 7: 26,821,294 (GRCm39) Y69C probably damaging Het
Ep400 C T 5: 110,887,200 (GRCm39) A628T probably damaging Het
Faxc A T 4: 21,932,046 (GRCm39) probably null Het
Fpr3 T C 17: 18,191,436 (GRCm39) S236P probably benign Het
Fsip2 T C 2: 82,822,239 (GRCm39) S5991P possibly damaging Het
Gm3099 A T 14: 15,345,347 (GRCm39) N58Y probably damaging Het
Gmps T C 3: 63,887,615 (GRCm39) V29A probably benign Het
Gnptab T G 10: 88,250,348 (GRCm39) D153E probably benign Het
Kcnh6 A G 11: 105,911,062 (GRCm39) H486R probably damaging Het
Lama3 T C 18: 12,673,670 (GRCm39) Y2571H probably damaging Het
Lama5 C T 2: 179,837,401 (GRCm39) V995M probably damaging Het
Lrrc43 A G 5: 123,632,328 (GRCm39) N157S probably damaging Het
Mbtps1 G A 8: 120,272,923 (GRCm39) S74L probably benign Het
Muc16 A T 9: 18,571,181 (GRCm39) V446D unknown Het
Ncapg2 T C 12: 116,403,647 (GRCm39) V853A possibly damaging Het
Nkx2-6 T C 14: 69,409,476 (GRCm39) S76P probably benign Het
Nuak1 T C 10: 84,229,981 (GRCm39) I131V probably damaging Het
Nup50l A C 6: 96,142,655 (GRCm39) S130A probably benign Het
Oas1e A T 5: 120,925,008 (GRCm39) probably null Het
Or1n2 T C 2: 36,797,149 (GRCm39) F64L probably benign Het
Pde5a T C 3: 122,542,128 (GRCm39) probably null Het
Plin4 T C 17: 56,413,861 (GRCm39) T255A probably benign Het
Pygm A G 19: 6,438,117 (GRCm39) T141A possibly damaging Het
Rps2 T A 17: 24,939,334 (GRCm39) probably benign Het
Rptor A G 11: 119,783,465 (GRCm39) D1153G probably benign Het
Ryr2 A G 13: 11,814,718 (GRCm39) F685L probably damaging Het
Slc22a17 A G 14: 55,146,051 (GRCm39) I356T probably benign Het
Slc29a4 T G 5: 142,703,584 (GRCm39) I286S probably benign Het
Swap70 T C 7: 109,821,105 (GRCm39) S30P possibly damaging Het
Tbx3 T A 5: 119,818,841 (GRCm39) L472Q probably damaging Het
Tbxas1 A G 6: 39,004,850 (GRCm39) R366G possibly damaging Het
Ttll8 T C 15: 88,798,638 (GRCm39) D699G probably benign Het
Vmn1r128 A T 7: 21,083,597 (GRCm39) R100S probably damaging Het
Wdpcp A G 11: 21,698,931 (GRCm39) D570G probably damaging Het
Znfx1 A G 2: 166,897,575 (GRCm39) S450P 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
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
Predicted Primers PCR Primer
(F):5'- GCTTTGATGCTGGCAATGGC -3'
(R):5'- GGTTCGAGAAAGCACCAAAC -3'

Sequencing Primer
(F):5'- TGTGCCTGATACAGTCCTTAAAGTG -3'
(R):5'- ACCTGAGATACCTCGAATTGTGG -3'
Posted On 2021-01-18