Incidental Mutation 'R0321:Tbc1d1'
ID 35855
Institutional Source Beutler Lab
Gene Symbol Tbc1d1
Ensembl Gene ENSMUSG00000029174
Gene Name TBC1 domain family, member 1
Synonyms 1110062G02Rik, Nob1, Nobq1
MMRRC Submission 038531-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0321 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 64313648-64508829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64496937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 864 (F864L)
Ref Sequence ENSEMBL: ENSMUSP00000113643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043893] [ENSMUST00000101195] [ENSMUST00000119756] [ENSMUST00000121370]
AlphaFold Q60949
Predicted Effect probably damaging
Transcript: ENSMUST00000043893
AA Change: F1086L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: F1086L

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 damaging
Transcript: ENSMUST00000101195
AA Change: F993L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: F993L

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 damaging
Transcript: ENSMUST00000119756
AA Change: F864L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: F864L

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 damaging
Transcript: ENSMUST00000121370
AA Change: F993L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: F993L

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: ENSMUST00000140960
Meta Mutation Damage Score 0.6469 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 100% (79/79)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,620 (GRCm39) T353A probably benign Het
4933402N03Rik T A 7: 130,747,956 (GRCm39) Y12F probably benign Het
Acbd3 T G 1: 180,579,870 (GRCm39) F505V probably damaging Het
Acod1 T C 14: 103,292,565 (GRCm39) V363A probably benign Het
Adam28 T C 14: 68,855,200 (GRCm39) Q647R probably damaging Het
Akr1c18 T A 13: 4,185,243 (GRCm39) L296F probably damaging Het
Ap1b1 G A 11: 4,982,464 (GRCm39) A588T probably benign Het
Armc8 A T 9: 99,415,230 (GRCm39) I150K probably damaging Het
Bahcc1 T C 11: 120,164,251 (GRCm39) probably null Het
Bltp1 T C 3: 36,960,937 (GRCm39) probably null Het
Carmil3 C A 14: 55,739,698 (GRCm39) D928E possibly damaging Het
Ccrl2 T C 9: 110,885,279 (GRCm39) N73S probably damaging Het
Cdk9 C A 2: 32,602,698 (GRCm39) probably benign Het
Cel G T 2: 28,451,160 (GRCm39) Q66K probably benign Het
D930028M14Rik T A 7: 24,854,991 (GRCm39) noncoding transcript Het
Dgka G C 10: 128,556,952 (GRCm39) probably benign Het
Dlg1 T C 16: 31,676,854 (GRCm39) V801A probably damaging Het
Dnah10 A G 5: 124,900,416 (GRCm39) D3834G probably benign Het
Dnajc15 C T 14: 78,112,273 (GRCm39) A23T possibly damaging Het
Ell2 T A 13: 75,910,007 (GRCm39) L119Q probably damaging Het
Epha2 T C 4: 141,035,716 (GRCm39) W51R probably damaging Het
F10 T C 8: 13,103,413 (GRCm39) F266L possibly damaging Het
Fam110a T C 2: 151,812,587 (GRCm39) N61S probably benign Het
Fam83c C T 2: 155,671,620 (GRCm39) S605N probably benign Het
Fbxw15 C T 9: 109,394,453 (GRCm39) V121I probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gfi1b A G 2: 28,503,897 (GRCm39) F101S probably damaging Het
Gimap5 C G 6: 48,727,449 (GRCm39) probably benign Het
Gpr180 T C 14: 118,385,699 (GRCm39) probably null Het
Gsn T C 2: 35,180,408 (GRCm39) F188L probably benign Het
Hivep3 T A 4: 119,952,788 (GRCm39) I368N possibly damaging Het
Itih3 T A 14: 30,634,063 (GRCm39) I153F probably damaging Het
Kdm8 A T 7: 125,060,178 (GRCm39) Q360L probably damaging Het
Lars1 T C 18: 42,335,697 (GRCm39) K1140E probably damaging Het
Mocs1 A G 17: 49,740,286 (GRCm39) Y71C probably damaging Het
Mroh5 C T 15: 73,661,892 (GRCm39) G433E probably damaging Het
Mrpl45 T A 11: 97,217,764 (GRCm39) probably benign Het
Mtcl1 T A 17: 66,686,426 (GRCm39) T827S probably damaging Het
Muc5b T C 7: 141,415,972 (GRCm39) S2973P probably benign Het
Mynn T C 3: 30,661,706 (GRCm39) S263P probably benign Het
Myo1f A C 17: 33,811,986 (GRCm39) D595A probably benign Het
Necab1 A T 4: 14,960,083 (GRCm39) I288N probably damaging Het
Nutm2 T G 13: 50,626,991 (GRCm39) M382R probably damaging Het
Oprm1 T C 10: 6,779,183 (GRCm39) S131P probably damaging Het
Pcsk9 A G 4: 106,301,891 (GRCm39) S619P probably benign Het
Phkg1 A T 5: 129,898,365 (GRCm39) M1K probably null Het
Pigc C T 1: 161,798,668 (GRCm39) Q217* probably null Het
Pik3r4 T A 9: 105,525,906 (GRCm39) F259I probably damaging Het
Pkdcc A T 17: 83,529,541 (GRCm39) probably benign Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Prtg A T 9: 72,755,307 (GRCm39) I259F possibly damaging Het
Prune2 T G 19: 17,098,291 (GRCm39) L1265R possibly damaging Het
Prune2 C T 19: 17,099,818 (GRCm39) A1774V probably benign Het
Rcn3 A G 7: 44,738,139 (GRCm39) probably benign Het
Rnf213 C T 11: 119,328,931 (GRCm39) Q2067* probably null Het
Sec14l1 T A 11: 117,041,568 (GRCm39) probably benign Het
Serpinb3a C T 1: 106,975,212 (GRCm39) W198* probably null Het
Smpdl3b A T 4: 132,468,755 (GRCm39) V154E probably damaging Het
Spag17 T C 3: 100,008,719 (GRCm39) S1950P probably damaging Het
Sprr1a T C 3: 92,391,609 (GRCm39) T131A probably benign Het
Tatdn2 T G 6: 113,686,462 (GRCm39) L690W probably damaging Het
Tmem8b C A 4: 43,674,444 (GRCm39) R243S probably damaging Het
Tnfrsf11a T A 1: 105,772,583 (GRCm39) C623* probably null Het
Tprg1l T C 4: 154,243,812 (GRCm39) N115D probably damaging Het
Ube2t C T 1: 134,895,538 (GRCm39) A4V possibly damaging Het
Vps41 G A 13: 19,026,465 (GRCm39) probably benign Het
Wdr17 C T 8: 55,149,303 (GRCm39) probably null Het
Wwc1 G A 11: 35,732,637 (GRCm39) Q1024* probably null Het
Zfand5 T A 19: 21,253,879 (GRCm39) N27K probably damaging Het
Zfp142 A T 1: 74,608,873 (GRCm39) C1641S probably damaging Het
Zfyve16 A G 13: 92,629,042 (GRCm39) I1465T probably damaging Het
Zswim1 G A 2: 164,667,947 (GRCm39) G400S probably benign Het
Zswim3 C T 2: 164,662,279 (GRCm39) A253V possibly 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
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
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'- GCTTTTCCAAGCACAGTTACTGTTGC -3'
(R):5'- AGTGTCCATACCTGACTGATGGTCTTC -3'

Sequencing Primer
(F):5'- ACAGGGGTCTGCGTTACAG -3'
(R):5'- GACTGATGGTCTTCTCCATCTG -3'
Posted On 2013-05-09