Incidental Mutation 'R5510:Tbc1d1'
ID 431138
Institutional Source Beutler Lab
Gene Symbol Tbc1d1
Ensembl Gene ENSMUSG00000029174
Gene Name TBC1 domain family, member 1
Synonyms 1110062G02Rik, Nob1, Nobq1
MMRRC Submission 043071-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5510 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 64313648-64508829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 64490738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 863 (G863D)
Ref Sequence ENSEMBL: ENSMUSP00000112493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043893] [ENSMUST00000101195] [ENSMUST00000119756] [ENSMUST00000121370]
AlphaFold Q60949
Predicted Effect probably damaging
Transcript: ENSMUST00000043893
AA Change: G956D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: G956D

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: G863D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: G863D

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: G734D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: G734D

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: G863D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: G863D

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 0.6467 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.1%
Validation Efficiency 99% (91/92)
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
Adgrl4 T G 3: 151,203,467 (GRCm39) I59R possibly damaging Het
Adgrv1 T A 13: 81,593,363 (GRCm39) D4208V probably damaging Het
Aimp2 A T 5: 143,843,347 (GRCm39) probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankib1 A G 5: 3,779,693 (GRCm39) V392A probably benign Het
Ap2b1 A G 11: 83,227,563 (GRCm39) probably null Het
Arsg A G 11: 109,418,700 (GRCm39) E232G probably benign Het
Axdnd1 A G 1: 156,162,920 (GRCm39) F144S probably benign Het
Bud13 T A 9: 46,203,498 (GRCm39) M111K probably damaging Het
Cav2 T C 6: 17,287,012 (GRCm39) F152S possibly damaging Het
Ccdc180 A G 4: 45,928,046 (GRCm39) T1194A probably damaging Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Ccdc88c T C 12: 100,911,290 (GRCm39) K848R probably damaging Het
Ceacam15 A G 7: 16,406,024 (GRCm39) W176R probably damaging Het
Cenpf A T 1: 189,415,100 (GRCm39) D136E probably benign Het
Dclk2 T C 3: 86,813,344 (GRCm39) I201V possibly damaging Het
Defa24 T A 8: 22,224,612 (GRCm39) D20E probably damaging Het
Dgcr8 T C 16: 18,095,039 (GRCm39) N566D probably damaging Het
Dido1 C A 2: 180,326,966 (GRCm39) V386L probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dtx3 G A 10: 127,028,807 (GRCm39) P141S probably benign Het
Fmn1 T C 2: 113,426,714 (GRCm39) Y1144H probably damaging Het
Gabbr2 A G 4: 46,734,113 (GRCm39) L535P probably damaging Het
Gimap3 T A 6: 48,742,183 (GRCm39) E249V possibly damaging Het
Git2 A T 5: 114,881,835 (GRCm39) probably null Het
Gm4922 T C 10: 18,659,745 (GRCm39) T326A probably benign Het
Gsdmc2 T G 15: 63,700,045 (GRCm39) E242D probably benign Het
Hdgfl2 G A 17: 56,389,118 (GRCm39) G31S possibly damaging Het
Herc2 A T 7: 55,856,519 (GRCm39) I3956F probably damaging Het
Hsf2bp G A 17: 32,165,721 (GRCm39) R134C unknown Het
Igf1r G C 7: 67,843,107 (GRCm39) R739S probably benign Het
Igkv4-51 T C 6: 69,658,443 (GRCm39) E102G probably damaging Het
Kif1a T G 1: 92,969,414 (GRCm39) I1156L possibly damaging Het
Kti12 T C 4: 108,705,821 (GRCm39) L245S probably damaging Het
Med17 A G 9: 15,181,700 (GRCm39) S17P probably benign Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mrps18b A G 17: 36,225,215 (GRCm39) probably benign Het
Ms4a8a A G 19: 11,056,828 (GRCm39) S85P probably benign Het
Msln T C 17: 25,968,847 (GRCm39) Q487R probably benign Het
Myh13 A G 11: 67,228,549 (GRCm39) N363S probably benign Het
Myo6 T C 9: 80,152,942 (GRCm39) F192L probably damaging Het
Nfkbiz T C 16: 55,634,383 (GRCm39) D688G probably damaging Het
Nsun4 C T 4: 115,908,974 (GRCm39) V529I possibly damaging Het
Or12d15 A T 17: 37,694,192 (GRCm39) M245L probably benign Het
Or1j16 G A 2: 36,530,975 (GRCm39) R308K probably benign Het
Or5p70 G A 7: 107,994,332 (GRCm39) A2T probably benign Het
Phf11a C A 14: 59,516,834 (GRCm39) C208F probably damaging Het
Plekhh2 G A 17: 84,874,275 (GRCm39) C520Y probably benign Het
Plxna4 C A 6: 32,155,293 (GRCm39) M1550I probably damaging Het
Pnpla6 A T 8: 3,571,397 (GRCm39) Y140F probably damaging Het
Ppp1r12a T A 10: 108,085,488 (GRCm39) S478T possibly damaging Het
Prkcz C A 4: 155,357,393 (GRCm39) probably null Het
Prss55 T A 14: 64,314,574 (GRCm39) M199L probably damaging Het
Qrich1 G A 9: 108,433,659 (GRCm39) V651I possibly damaging Het
Ralyl T C 3: 13,842,005 (GRCm39) V47A probably damaging Het
Raph1 A T 1: 60,562,105 (GRCm39) probably benign Het
Rgs12 T C 5: 35,123,383 (GRCm39) Y389H probably damaging Het
Sec24b C A 3: 129,834,544 (GRCm39) G82V probably damaging Het
Sema4a A G 3: 88,357,293 (GRCm39) probably null Het
Slc25a11 A T 11: 70,536,361 (GRCm39) W149R probably damaging Het
Slc2a7 T G 4: 150,244,551 (GRCm39) S340A probably benign Het
Slc32a1 T A 2: 158,456,716 (GRCm39) M457K probably damaging Het
Spata31d1e T C 13: 59,890,234 (GRCm39) probably null Het
Spint4 C T 2: 164,542,812 (GRCm39) T135M probably damaging Het
Sult2a2 A C 7: 13,472,228 (GRCm39) N142H probably damaging Het
Tmem156 G A 5: 65,232,917 (GRCm39) T151M probably benign Het
Trip12 T C 1: 84,746,401 (GRCm39) Q459R probably damaging Het
Vmn2r116 G A 17: 23,605,095 (GRCm39) C136Y probably damaging Het
Vmn2r51 C T 7: 9,836,545 (GRCm39) V79M possibly damaging Het
Vmn2r67 A T 7: 84,801,023 (GRCm39) D304E probably benign Het
Wdr93 T A 7: 79,399,779 (GRCm39) F123I probably damaging Het
Zfp672 A T 11: 58,207,456 (GRCm39) C288* probably null Het
Zp1 T C 19: 10,896,769 (GRCm39) Y90C 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
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
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'- ACTACACTCACTGATCAGAGGTG -3'
(R):5'- CAAGGATGCTTGGTACCTGC -3'

Sequencing Primer
(F):5'- TGGTTGGTACTTAAGGCACAC -3'
(R):5'- AATCATGTCTGGCCGATACTG -3'
Posted On 2016-10-05