Incidental Mutation 'R6913:Tbc1d1'
ID 539156
Institutional Source Beutler Lab
Gene Symbol Tbc1d1
Ensembl Gene ENSMUSG00000029174
Gene Name TBC1 domain family, member 1
Synonyms 1110062G02Rik, Nob1, Nobq1
MMRRC Submission 045034-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6913 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 64313648-64508829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64468452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 566 (C566S)
Ref Sequence ENSEMBL: ENSMUSP00000113643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043893] [ENSMUST00000101195] [ENSMUST00000119756] [ENSMUST00000121370]
AlphaFold Q60949
Predicted Effect probably benign
Transcript: ENSMUST00000043893
AA Change: C788S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: C788S

DomainStartEndE-ValueType
PTB 16 164 3.29e-9 SMART
PTB 168 378 5.93e-34 SMART
low complexity region 519 540 N/A INTRINSIC
Blast:TBC 541 635 2e-27 BLAST
low complexity region 640 663 N/A INTRINSIC
Pfam:DUF3350 777 832 2.5e-25 PFAM
TBC 884 1104 3.84e-89 SMART
Blast:TBC 1129 1186 5e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000101195
AA Change: C695S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: C695S

DomainStartEndE-ValueType
PTB 16 164 3.29e-9 SMART
PTB 168 378 5.93e-34 SMART
low complexity region 519 540 N/A INTRINSIC
low complexity region 556 567 N/A INTRINSIC
Pfam:DUF3350 684 739 4e-29 PFAM
TBC 791 1011 3.84e-89 SMART
Blast:TBC 1036 1093 4e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000119756
AA Change: C566S

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: C566S

DomainStartEndE-ValueType
PTB 39 249 5.93e-34 SMART
low complexity region 390 411 N/A INTRINSIC
low complexity region 427 438 N/A INTRINSIC
Pfam:DUF3350 555 610 2.9e-29 PFAM
TBC 662 882 3.84e-89 SMART
Blast:TBC 907 964 4e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000121370
AA Change: C695S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: C695S

DomainStartEndE-ValueType
PTB 16 164 3.29e-9 SMART
PTB 168 378 5.93e-34 SMART
low complexity region 519 540 N/A INTRINSIC
low complexity region 556 567 N/A INTRINSIC
Pfam:DUF3350 684 739 4e-29 PFAM
TBC 791 1011 3.84e-89 SMART
Blast:TBC 1036 1093 4e-12 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.9%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TBC1D1 is the founding member of a family of proteins sharing a 180- to 200-amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozgyous for a targeted mutation that removes exon 4 exhibit no adverse phenotype. Mice homozygous for a gene trap allele exhibit decreased body weight, resistance to diet-induced obesity, increased fat oxidization and decreased glucose uptake in the muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,197,494 (GRCm39) I619N possibly damaging Het
Accsl T C 2: 93,696,488 (GRCm39) K41E possibly damaging Het
Actr6 T C 10: 89,562,558 (GRCm39) E107G probably damaging Het
Adam7 T A 14: 68,771,100 (GRCm39) M9L probably benign Het
Adamts12 T A 15: 11,215,778 (GRCm39) H266Q probably damaging Het
Adamts16 A G 13: 70,877,017 (GRCm39) F1208S possibly damaging Het
Ankrd11 T C 8: 123,621,650 (GRCm39) D734G probably benign Het
Ap1b1 T C 11: 4,962,972 (GRCm39) V43A possibly damaging Het
Asnsd1 A G 1: 53,387,390 (GRCm39) V79A probably damaging Het
Aste1 T A 9: 105,274,607 (GRCm39) S221R probably benign Het
Ccndbp1 G A 2: 120,840,347 (GRCm39) E94K probably benign Het
Cdc34 G A 10: 79,520,937 (GRCm39) probably null Het
Cdh16 T C 8: 105,348,896 (GRCm39) D67G probably benign Het
Chd8 T C 14: 52,451,951 (GRCm39) E1348G probably damaging Het
Chl1 C T 6: 103,642,909 (GRCm39) Q216* probably null Het
Cse1l G A 2: 166,771,797 (GRCm39) V353I possibly damaging Het
Ctbp2 G A 7: 132,616,455 (GRCm39) S160F possibly damaging Het
Cyp1a1 C A 9: 57,607,576 (GRCm39) T68K probably damaging Het
Dennd11 T C 6: 40,383,851 (GRCm39) N397S possibly damaging Het
Dlgap2 T A 8: 14,828,374 (GRCm39) M594K probably benign Het
Dnah6 C T 6: 73,189,505 (GRCm39) E48K probably benign Het
Dock2 A G 11: 34,647,049 (GRCm39) V35A probably damaging Het
Edem2 A T 2: 155,568,594 (GRCm39) S73R probably damaging Het
Eps15 T C 4: 109,218,427 (GRCm39) V430A probably benign Het
Frem2 T C 3: 53,424,242 (GRCm39) N3065S probably damaging Het
Gal3st4 A T 5: 138,269,090 (GRCm39) S123R possibly damaging Het
Garnl3 T A 2: 32,876,841 (GRCm39) I937F possibly damaging Het
Gfod2 C T 8: 106,443,995 (GRCm39) V183M possibly damaging Het
Glipr1l1 T C 10: 111,898,339 (GRCm39) probably null Het
Gm7145 T G 1: 117,913,711 (GRCm39) C198G probably damaging Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
H2-Eb2 G A 17: 34,552,523 (GRCm39) A123T possibly damaging Het
Ighv1-55 T C 12: 115,172,129 (GRCm39) I7V probably benign Het
Itpripl2 G T 7: 118,090,332 (GRCm39) P76T possibly damaging Het
Kat6a C A 8: 23,393,215 (GRCm39) A231E possibly damaging Het
Lipo3 C T 19: 33,757,705 (GRCm39) V255I probably benign Het
Mamstr A T 7: 45,292,662 (GRCm39) M141L probably benign Het
Med13 A G 11: 86,210,702 (GRCm39) V480A probably benign Het
Mei1 A G 15: 81,973,810 (GRCm39) N523S probably benign Het
Mill2 A G 7: 18,590,351 (GRCm39) T144A probably null Het
Muc16 C A 9: 18,553,959 (GRCm39) L4111F unknown Het
Mylk2 G A 2: 152,755,610 (GRCm39) G258E possibly damaging Het
Myom2 T G 8: 15,115,710 (GRCm39) S42A probably benign Het
Nab1 C A 1: 52,503,995 (GRCm39) G401C possibly damaging Het
Nifk T C 1: 118,260,592 (GRCm39) V244A possibly damaging Het
Nipsnap2 C A 5: 129,830,357 (GRCm39) Q224K probably benign Het
Nop16 T G 13: 54,737,553 (GRCm39) K47Q probably damaging Het
Nup153 A T 13: 46,853,192 (GRCm39) S548R probably damaging Het
Or2at1 A C 7: 99,416,924 (GRCm39) D185A probably damaging Het
Or4g17 A G 2: 111,209,347 (GRCm39) M1V probably null Het
Or5b111 A G 19: 13,290,998 (GRCm39) I217T probably benign Het
Pard6g G A 18: 80,160,534 (GRCm39) V216I possibly damaging Het
Pcdh20 C T 14: 88,706,038 (GRCm39) V421I probably benign Het
Pcif1 G A 2: 164,726,224 (GRCm39) probably null Het
Pde11a C A 2: 76,168,084 (GRCm39) V290F probably damaging Het
Pisd T C 5: 32,894,773 (GRCm39) Y511C probably damaging Het
Polg A T 7: 79,110,405 (GRCm39) D276E probably damaging Het
Polr3b T C 10: 84,549,496 (GRCm39) V906A probably damaging Het
Prkcg C T 7: 3,362,335 (GRCm39) P270S probably benign Het
Rapgef2 T A 3: 78,993,281 (GRCm39) I884F probably damaging Het
Rpl13 C A 8: 123,830,014 (GRCm39) N113K possibly damaging Het
Rxra T A 2: 27,631,186 (GRCm39) I139N probably damaging Het
Sf3b5 T A 10: 12,884,487 (GRCm39) C41S probably benign Het
Spata31e3 G T 13: 50,399,293 (GRCm39) P1011H probably damaging Het
Stk24 C T 14: 121,540,221 (GRCm39) R126Q probably damaging Het
Taar8b T C 10: 23,967,963 (GRCm39) D77G possibly damaging Het
Tenm3 A T 8: 48,751,972 (GRCm39) M948K probably damaging Het
Thbs4 T A 13: 92,894,444 (GRCm39) Q693L possibly damaging Het
Tnfrsf26 A T 7: 143,172,126 (GRCm39) C61* probably null Het
Trp63 A G 16: 25,707,918 (GRCm39) E636G probably damaging Het
Try5 T C 6: 41,288,266 (GRCm39) Y121C probably damaging Het
Ttn G T 2: 76,660,755 (GRCm39) probably benign Het
Vamp1 T A 6: 125,195,908 (GRCm39) V55D probably damaging Het
Vmn2r117 T C 17: 23,698,537 (GRCm39) N12S probably damaging Het
Vmn2r90 G A 17: 17,924,323 (GRCm39) G41S probably damaging Het
Zfp462 T A 4: 55,007,775 (GRCm39) D71E probably benign Het
Other mutations in Tbc1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02007:Tbc1d1 APN 5 64,414,335 (GRCm39) missense probably damaging 1.00
IGL02341:Tbc1d1 APN 5 64,432,750 (GRCm39) missense probably damaging 1.00
IGL02353:Tbc1d1 APN 5 64,414,179 (GRCm39) missense probably damaging 1.00
IGL02360:Tbc1d1 APN 5 64,414,179 (GRCm39) missense probably damaging 1.00
IGL02963:Tbc1d1 APN 5 64,421,709 (GRCm39) missense probably damaging 1.00
IGL03003:Tbc1d1 APN 5 64,473,781 (GRCm39) missense probably damaging 1.00
Betrayal UTSW 5 64,330,827 (GRCm39) missense probably damaging 1.00
Perfidy UTSW 5 64,492,620 (GRCm39) critical splice acceptor site probably null
R0035:Tbc1d1 UTSW 5 64,414,080 (GRCm39) missense probably damaging 1.00
R0084:Tbc1d1 UTSW 5 64,481,797 (GRCm39) missense probably damaging 0.96
R0321:Tbc1d1 UTSW 5 64,496,937 (GRCm39) missense probably damaging 1.00
R0559:Tbc1d1 UTSW 5 64,331,136 (GRCm39) missense probably damaging 1.00
R1296:Tbc1d1 UTSW 5 64,421,775 (GRCm39) missense probably damaging 1.00
R1922:Tbc1d1 UTSW 5 64,468,564 (GRCm39) missense probably damaging 1.00
R1928:Tbc1d1 UTSW 5 64,502,643 (GRCm39) missense probably damaging 1.00
R2095:Tbc1d1 UTSW 5 64,473,844 (GRCm39) missense probably benign 0.01
R2107:Tbc1d1 UTSW 5 64,442,048 (GRCm39) missense probably benign 0.19
R2253:Tbc1d1 UTSW 5 64,442,143 (GRCm39) missense probably benign 0.00
R3545:Tbc1d1 UTSW 5 64,443,350 (GRCm39) missense probably damaging 1.00
R3546:Tbc1d1 UTSW 5 64,443,350 (GRCm39) missense probably damaging 1.00
R3547:Tbc1d1 UTSW 5 64,443,350 (GRCm39) missense probably damaging 1.00
R4039:Tbc1d1 UTSW 5 64,473,771 (GRCm39) missense probably damaging 0.99
R4289:Tbc1d1 UTSW 5 64,417,771 (GRCm39) missense probably damaging 1.00
R4380:Tbc1d1 UTSW 5 64,490,891 (GRCm39) missense probably benign 0.29
R4405:Tbc1d1 UTSW 5 64,331,013 (GRCm39) missense possibly damaging 0.93
R4564:Tbc1d1 UTSW 5 64,330,827 (GRCm39) missense probably damaging 1.00
R4722:Tbc1d1 UTSW 5 64,420,900 (GRCm39) missense probably damaging 1.00
R4779:Tbc1d1 UTSW 5 64,435,389 (GRCm39) critical splice donor site probably null
R5256:Tbc1d1 UTSW 5 64,439,352 (GRCm39) missense probably damaging 1.00
R5268:Tbc1d1 UTSW 5 64,481,910 (GRCm39) missense probably damaging 0.99
R5510:Tbc1d1 UTSW 5 64,490,738 (GRCm39) missense probably damaging 1.00
R5547:Tbc1d1 UTSW 5 64,481,887 (GRCm39) missense possibly damaging 0.73
R5620:Tbc1d1 UTSW 5 64,331,055 (GRCm39) missense probably benign 0.44
R5680:Tbc1d1 UTSW 5 64,481,887 (GRCm39) missense possibly damaging 0.73
R5874:Tbc1d1 UTSW 5 64,507,273 (GRCm39) makesense probably null
R6002:Tbc1d1 UTSW 5 64,490,776 (GRCm39) missense probably damaging 1.00
R6058:Tbc1d1 UTSW 5 64,435,352 (GRCm39) missense probably damaging 1.00
R6092:Tbc1d1 UTSW 5 64,507,242 (GRCm39) missense probably benign 0.00
R6118:Tbc1d1 UTSW 5 64,441,380 (GRCm39) missense probably damaging 0.98
R6183:Tbc1d1 UTSW 5 64,432,768 (GRCm39) missense probably damaging 1.00
R6447:Tbc1d1 UTSW 5 64,490,836 (GRCm39) missense probably damaging 1.00
R6824:Tbc1d1 UTSW 5 64,414,245 (GRCm39) missense probably benign 0.02
R7039:Tbc1d1 UTSW 5 64,442,100 (GRCm39) missense probably benign 0.08
R7150:Tbc1d1 UTSW 5 64,330,827 (GRCm39) missense probably damaging 1.00
R7154:Tbc1d1 UTSW 5 64,331,156 (GRCm39) missense possibly damaging 0.56
R7316:Tbc1d1 UTSW 5 64,492,620 (GRCm39) critical splice acceptor site probably null
R7621:Tbc1d1 UTSW 5 64,421,673 (GRCm39) missense probably damaging 1.00
R7653:Tbc1d1 UTSW 5 64,414,133 (GRCm39) missense probably benign 0.21
R7684:Tbc1d1 UTSW 5 64,473,829 (GRCm39) missense probably benign 0.13
R7816:Tbc1d1 UTSW 5 64,507,095 (GRCm39) missense probably damaging 0.98
R8832:Tbc1d1 UTSW 5 64,442,020 (GRCm39) splice site probably benign
R9027:Tbc1d1 UTSW 5 64,414,349 (GRCm39) missense probably benign 0.01
R9287:Tbc1d1 UTSW 5 64,435,364 (GRCm39) missense probably damaging 1.00
R9546:Tbc1d1 UTSW 5 64,330,950 (GRCm39) missense possibly damaging 0.88
R9547:Tbc1d1 UTSW 5 64,330,950 (GRCm39) missense possibly damaging 0.88
R9577:Tbc1d1 UTSW 5 64,473,699 (GRCm39) missense possibly damaging 0.83
R9599:Tbc1d1 UTSW 5 64,502,701 (GRCm39) missense probably benign 0.28
R9605:Tbc1d1 UTSW 5 64,443,350 (GRCm39) missense probably damaging 1.00
X0064:Tbc1d1 UTSW 5 64,432,795 (GRCm39) missense probably benign 0.04
Z1088:Tbc1d1 UTSW 5 64,432,736 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GTGGCTCATACATAACCTAGTGTGG -3'
(R):5'- GACTGTATCCTGAGTGCAAGG -3'

Sequencing Primer
(F):5'- AAACTCAGGTTTCCAGGCTG -3'
(R):5'- CTGTATCCTGAGTGCAAGGATTAAG -3'
Posted On 2018-11-06