Incidental Mutation 'R2095:Tbc1d1'
ID 232032
Institutional Source Beutler Lab
Gene Symbol Tbc1d1
Ensembl Gene ENSMUSG00000029174
Gene Name TBC1 domain family, member 1
Synonyms 1110062G02Rik, Nob1, Nobq1
MMRRC Submission 040099-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2095 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 64313648-64508829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 64473844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 660 (S660L)
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: S882L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: S882L

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: S789L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: S789L

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: S660L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: S660L

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: S789L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: S789L

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 noncoding transcript
Transcript: ENSMUST00000121819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140960
Meta Mutation Damage Score 0.1025 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (58/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik C A 4: 122,596,151 (GRCm39) Y127* probably null Het
Adam33 C T 2: 130,895,629 (GRCm39) G562D probably damaging Het
Adh1 T C 3: 137,988,557 (GRCm39) F177L probably damaging Het
Arhgef17 T C 7: 100,530,470 (GRCm39) T1439A probably damaging Het
Arl5c C T 11: 97,884,277 (GRCm39) E105K probably damaging Het
Armc3 T A 2: 19,293,740 (GRCm39) D510E possibly damaging Het
Bbx T C 16: 50,045,052 (GRCm39) E395G possibly damaging Het
Cacna2d2 G A 9: 107,404,364 (GRCm39) E1087K probably benign Het
Casq1 T C 1: 172,043,529 (GRCm39) N113S probably benign Het
Cbfa2t3 A G 8: 123,361,727 (GRCm39) S432P probably benign Het
Ccn2 T C 10: 24,472,377 (GRCm39) V140A probably benign Het
Cd163 A G 6: 124,294,781 (GRCm39) D615G probably damaging Het
Chrnb2 A T 3: 89,668,744 (GRCm39) D190E probably benign Het
Clec9a T C 6: 129,393,321 (GRCm39) L115P possibly damaging Het
Cluh C T 11: 74,552,550 (GRCm39) R532* probably null Het
Cntnap5a T A 1: 116,369,990 (GRCm39) L869Q probably damaging Het
Cyp3a57 A T 5: 145,305,944 (GRCm39) K143* probably null Het
Dcaf12 G T 4: 41,294,085 (GRCm39) H351N probably benign Het
Dtna T A 18: 23,702,805 (GRCm39) L112Q probably damaging Het
Fnta G A 8: 26,489,907 (GRCm39) Q303* probably null Het
Frs2 T C 10: 116,910,507 (GRCm39) E285G probably benign Het
Gabra4 T C 5: 71,781,455 (GRCm39) I293V probably damaging Het
Gm2431 A T 7: 141,811,518 (GRCm39) C129S unknown Het
Gnl2 C T 4: 124,928,111 (GRCm39) R49C probably damaging Het
Helz T A 11: 107,536,972 (GRCm39) Y275N probably damaging Het
Hydin A G 8: 111,189,289 (GRCm39) E1231G probably damaging Het
Kctd11 T A 11: 69,770,402 (GRCm39) D212V probably damaging Het
Klf3 T A 5: 64,979,245 (GRCm39) M29K probably benign Het
Klhl21 T C 4: 152,093,850 (GRCm39) S151P probably benign Het
Lsm14b A T 2: 179,673,580 (GRCm39) probably benign Het
Mlxipl T C 5: 135,150,974 (GRCm39) probably benign Het
Mov10 G A 3: 104,708,847 (GRCm39) R389C probably damaging Het
Msh6 A G 17: 88,295,661 (GRCm39) M1071V possibly damaging Het
Myh8 G T 11: 67,177,050 (GRCm39) A401S probably benign Het
Ndufv3 T C 17: 31,746,460 (GRCm39) S117P possibly damaging Het
Obscn A T 11: 58,984,410 (GRCm39) probably null Het
Or1e22 T A 11: 73,377,420 (GRCm39) T77S probably damaging Het
Or2l13 T C 16: 19,305,681 (GRCm39) I31T probably benign Het
Or4c11c T C 2: 88,661,634 (GRCm39) Y58H probably damaging Het
Or8g50 T A 9: 39,648,557 (GRCm39) Y149N probably damaging Het
Pcdhb17 T A 18: 37,619,375 (GRCm39) D388E probably benign Het
Pgm3 T C 9: 86,438,394 (GRCm39) T423A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
S1pr5 T A 9: 21,156,154 (GRCm39) T91S probably benign Het
Sgcz T C 8: 38,007,546 (GRCm39) probably benign Het
Slc33a1 A G 3: 63,871,376 (GRCm39) L79P probably damaging Het
Slco2a1 A G 9: 102,954,167 (GRCm39) T383A probably benign Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Spta1 T A 1: 174,071,764 (GRCm39) M2248K possibly damaging Het
Stub1 A G 17: 26,049,864 (GRCm39) Y304H probably damaging Het
Taar7e T A 10: 23,913,949 (GRCm39) Y146* probably null Het
Tcea2 C A 2: 181,328,725 (GRCm39) F259L probably damaging Het
Tcp11l1 T A 2: 104,512,185 (GRCm39) K482N probably damaging Het
Trpv6 C T 6: 41,598,690 (GRCm39) R645Q probably damaging Het
Uaca T A 9: 60,748,125 (GRCm39) S30T probably benign Het
Ubap2 C G 4: 41,206,901 (GRCm39) V492L possibly damaging Het
Ube3c T C 5: 29,873,038 (GRCm39) F1026S probably damaging Het
Vmn2r8 T G 5: 108,956,487 (GRCm39) D45A possibly damaging Het
Zfp738 G T 13: 67,819,422 (GRCm39) L180I probably damaging 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
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
R6913:Tbc1d1 UTSW 5 64,468,452 (GRCm39) missense probably benign 0.26
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'- TGCCAGTGTGTCTAAGAGGAG -3'
(R):5'- AACATACTGGTGCCTGGTTTTC -3'

Sequencing Primer
(F):5'- TTGGCTACAACTCGGGAGCTC -3'
(R):5'- TTTCCGGGCATTTTATTTAATGTAAC -3'
Posted On 2014-09-18