Incidental Mutation 'R4541:Tbc1d10c'
ID 333558
Institutional Source Beutler Lab
Gene Symbol Tbc1d10c
Ensembl Gene ENSMUSG00000040247
Gene Name TBC1 domain family, member 10c
Synonyms 1810062O14Rik, Carabin
MMRRC Submission 041777-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R4541 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4234356-4241194 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4239473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 96 (R96S)
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: R96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042660
Gene: ENSMUSG00000040247
AA Change: R96S

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
Meta Mutation Damage Score 0.9222 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (51/53)
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
2810021J22Rik C T 11: 58,769,676 (GRCm39) P73S probably benign Het
4930533L02Rik G A 7: 124,917,750 (GRCm39) noncoding transcript Het
Acot4 A T 12: 84,090,022 (GRCm39) I240F probably benign Het
B4galt6 A G 18: 20,878,496 (GRCm39) V10A probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccnb3 T C X: 6,875,308 (GRCm39) T424A probably benign Het
Cd8a A T 6: 71,350,856 (GRCm39) D107V probably benign Het
Cdca7l T C 12: 117,836,098 (GRCm39) S190P probably damaging Het
Ceacam12 G A 7: 17,805,648 (GRCm39) M278I probably benign Het
Cfap43 C T 19: 47,736,454 (GRCm39) V1346I probably benign Het
Clic5 C T 17: 44,552,956 (GRCm39) T70M probably damaging Het
Dbpht2 A T 12: 74,345,934 (GRCm39) noncoding transcript Het
Ddhd1 G A 14: 45,860,313 (GRCm39) R140* probably null Het
Evpl T G 11: 116,123,470 (GRCm39) I301L probably benign Het
Glul T A 1: 153,778,782 (GRCm39) Y30* probably null Het
Itgad A T 7: 127,797,287 (GRCm39) H878L probably benign Het
Kcnk10 A G 12: 98,402,536 (GRCm39) I301T probably damaging Het
Klhl14 A T 18: 21,687,696 (GRCm39) Y575* probably null Het
Mrps2 G T 2: 28,358,412 (GRCm39) probably benign Het
Mymx GCC GC 17: 45,912,519 (GRCm39) probably null Het
Napb G A 2: 148,551,229 (GRCm39) probably benign Het
Nlrp1c-ps A G 11: 71,171,706 (GRCm39) noncoding transcript Het
Or10g9b A C 9: 39,917,589 (GRCm39) S219A possibly damaging Het
Or4f15 A G 2: 111,813,981 (GRCm39) I146T probably benign Het
Piwil4 C A 9: 14,629,612 (GRCm39) M438I probably damaging Het
Pla2r1 C T 2: 60,258,082 (GRCm39) D1199N probably damaging Het
Pmpca T G 2: 26,280,201 (GRCm39) probably benign Het
Prkcq G T 2: 11,288,623 (GRCm39) M525I possibly damaging Het
Rnf225 T C 7: 12,662,520 (GRCm39) probably null Het
Sco1 G T 11: 66,943,668 (GRCm39) A50S probably benign Het
Slc12a2 T A 18: 58,046,037 (GRCm39) probably null Het
Slc36a1 T C 11: 55,112,849 (GRCm39) V148A probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Tbc1d2b A T 9: 90,087,222 (GRCm39) I919N probably damaging Het
Tcea1 T C 1: 4,963,659 (GRCm39) L233P probably damaging Het
Tlcd4 A G 3: 121,028,884 (GRCm39) M1T probably null Het
Tmem231 T C 8: 112,641,224 (GRCm39) T223A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tomm34 A G 2: 163,896,719 (GRCm39) Y243H probably benign Het
Tubgcp4 A T 2: 121,025,907 (GRCm39) N584I probably benign Het
Vldlr T C 19: 27,216,192 (GRCm39) C7R probably damaging Het
Vmn1r42 A T 6: 89,822,533 (GRCm39) M12K probably benign Het
Vsig10 C T 5: 117,490,881 (GRCm39) probably benign Het
Zfp974 C G 7: 27,625,829 (GRCm39) V14L 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
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
Predicted Primers PCR Primer
(F):5'- AATGGTCTCCATCCACTGCG -3'
(R):5'- TTGACCAAAGAAAAGCTGTGC -3'

Sequencing Primer
(F):5'- TCCATCCACTGCGGGTCC -3'
(R):5'- TTCTGAGTTAAAGGCCAGCC -3'
Posted On 2015-08-18