Incidental Mutation 'R5256:Tbc1d1'
ID 399618
Institutional Source Beutler Lab
Gene Symbol Tbc1d1
Ensembl Gene ENSMUSG00000029174
Gene Name TBC1 domain family, member 1
Synonyms 1110062G02Rik, Nob1, Nobq1
MMRRC Submission 042827-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5256 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 64313648-64508829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64439352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 619 (Y619C)
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: Y619C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: Y619C

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: Y619C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: Y619C

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: Y490C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: Y490C

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: Y619C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: Y619C

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: ENSMUST00000147348
SMART Domains Protein: ENSMUSP00000119710
Gene: ENSMUSG00000029174

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 1e-27 BLAST
low complexity region 640 663 N/A INTRINSIC
Pfam:DUF3350 777 832 3.3e-29 PFAM
TBC 884 1086 2.13e-32 SMART
Meta Mutation Damage Score 0.2775 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 97% (95/98)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730015C16Rik C A 4: 108,705,262 (GRCm39) probably benign Het
Actr1b T C 1: 36,739,173 (GRCm39) H372R probably benign Het
Ampd2 C A 3: 107,986,865 (GRCm39) probably benign Het
Anapc4 A G 5: 53,020,936 (GRCm39) S612G probably benign Het
Arhgef7 T C 8: 11,850,811 (GRCm39) L141P probably damaging Het
Atl1 A G 12: 70,006,107 (GRCm39) D471G probably damaging Het
Atrn A G 2: 130,787,939 (GRCm39) D247G probably benign Het
Bag1 T A 4: 40,948,022 (GRCm39) R61W probably damaging Het
Card10 C T 15: 78,662,451 (GRCm39) R898H probably damaging Het
Cct6b G A 11: 82,655,046 (GRCm39) A3V probably damaging Het
Cfap54 A T 10: 92,770,953 (GRCm39) L2097* probably null Het
Cfap54 T C 10: 92,880,885 (GRCm39) probably null Het
Chd5 T C 4: 152,456,554 (GRCm39) F964L probably benign Het
Cog5 A G 12: 31,936,204 (GRCm39) T584A probably benign Het
Cpa2 T A 6: 30,547,196 (GRCm39) N157K probably damaging Het
Cpeb1 A T 7: 81,001,587 (GRCm39) M440K probably damaging Het
Cracr2a G A 6: 127,580,992 (GRCm39) C56Y probably damaging Het
Ddb2 A C 2: 91,067,073 (GRCm39) L30R probably damaging Het
Dlk1 T A 12: 109,425,697 (GRCm39) I190N probably damaging Het
Dnaaf4 T C 9: 72,879,362 (GRCm39) probably null Het
Dnajc13 T A 9: 104,080,528 (GRCm39) Y851F possibly damaging Het
Dop1a T A 9: 86,397,381 (GRCm39) L895Q probably damaging Het
F7 G A 8: 13,080,763 (GRCm39) C122Y probably damaging Het
Frrs1 T C 3: 116,696,749 (GRCm39) V573A possibly damaging Het
Galnt2l T C 8: 122,997,175 (GRCm39) probably benign Het
Gm17541 A T 12: 4,739,672 (GRCm39) probably benign Het
Gm5519 A T 19: 33,800,576 (GRCm39) H90L probably damaging Het
Gm5526 T A 1: 45,896,569 (GRCm39) noncoding transcript Het
Gm5709 A T 3: 59,509,971 (GRCm39) noncoding transcript Het
Golga4 T A 9: 118,385,569 (GRCm39) V869D possibly damaging Het
Grm7 A T 6: 111,335,182 (GRCm39) Q531L probably benign Het
Hnrnpu C A 1: 178,163,458 (GRCm39) C265F unknown Het
Hoxd3 G A 2: 74,577,211 (GRCm39) V364I possibly damaging Het
Hspb8 T C 5: 116,547,532 (GRCm39) D150G probably damaging Het
Hydin C A 8: 111,313,855 (GRCm39) N4244K possibly damaging Het
Ik A G 18: 36,881,926 (GRCm39) D136G probably benign Het
Il11ra1 T C 4: 41,767,932 (GRCm39) probably benign Het
Jph1 T C 1: 17,161,622 (GRCm39) I347V probably benign Het
Klk1 T A 7: 43,870,985 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,265,087 (GRCm39) probably benign Het
Lnx1 C T 5: 74,846,315 (GRCm39) C45Y probably damaging Het
Macc1 T A 12: 119,410,264 (GRCm39) M344K possibly damaging Het
Madcam1 A G 10: 79,500,779 (GRCm39) E32G possibly damaging Het
Mat2a T C 6: 72,411,316 (GRCm39) D383G probably benign Het
Mpst T A 15: 78,297,849 (GRCm39) I289N probably damaging Het
Myh6 C T 14: 55,190,118 (GRCm39) R1055Q probably damaging Het
Myh7 T C 14: 55,216,965 (GRCm39) K1131E probably damaging Het
Ndrg3 A T 2: 156,773,125 (GRCm39) probably benign Het
Nebl A G 2: 17,438,786 (GRCm39) S209P probably benign Het
Nid2 A G 14: 19,818,276 (GRCm39) probably null Het
Nup188 A T 2: 30,220,761 (GRCm39) S945C probably damaging Het
Or1j21 A G 2: 36,683,685 (GRCm39) M146V probably benign Het
Or5g23 C T 2: 85,438,817 (GRCm39) V146I probably benign Het
Or8c11 A G 9: 38,289,213 (GRCm39) N12S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Patl2 A G 2: 121,959,368 (GRCm39) L32P probably damaging Het
Pcdh20 T A 14: 88,705,813 (GRCm39) M496L probably benign Het
Pdzd2 A G 15: 12,373,028 (GRCm39) V2369A possibly damaging Het
Pfn2 A G 3: 57,754,812 (GRCm39) V31A probably damaging Het
Plxna4 T C 6: 32,228,007 (GRCm39) N533S probably benign Het
Plxnb1 T C 9: 108,943,661 (GRCm39) F1916S probably damaging Het
Ppp4r3b T C 11: 29,138,293 (GRCm39) F214L probably benign Het
Prox1 T C 1: 189,893,638 (GRCm39) D269G probably benign Het
Rapgef4 T C 2: 71,864,378 (GRCm39) F71S probably damaging Het
Rft1 A G 14: 30,383,243 (GRCm39) I94M probably benign Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Serhl T A 15: 82,986,835 (GRCm39) V117E probably damaging Het
Shroom1 G A 11: 53,356,334 (GRCm39) R336Q probably benign Het
Sik3 A T 9: 46,123,552 (GRCm39) Q1067L probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc28a1 G A 7: 80,771,869 (GRCm39) V118M probably damaging Het
Slco1a6 T A 6: 142,078,427 (GRCm39) I153F probably benign Het
Ss18l1 T C 2: 179,703,735 (GRCm39) Y323H unknown Het
Susd4 G T 1: 182,719,824 (GRCm39) A480S possibly damaging Het
Syne3 A T 12: 104,942,139 (GRCm39) M1K probably null Het
Synpo2l A T 14: 20,711,082 (GRCm39) S513T probably benign Het
Tat A T 8: 110,724,966 (GRCm39) N388I probably benign Het
Tbk1 G A 10: 121,406,590 (GRCm39) T216M probably damaging Het
Tns1 C T 1: 74,034,585 (GRCm39) probably benign Het
Trbv5 T C 6: 41,039,318 (GRCm39) V9A possibly damaging Het
Trpm5 A G 7: 142,636,040 (GRCm39) Y575H probably damaging Het
Ttn A T 2: 76,570,045 (GRCm39) Y25203* probably null Het
Tubb3 C A 8: 124,148,391 (GRCm39) D441E probably benign Het
Usp33 T A 3: 152,097,333 (GRCm39) C850* probably null Het
Vdac1 G A 11: 52,274,905 (GRCm39) probably null Het
Vmn1r232 T C 17: 21,133,846 (GRCm39) I251M probably damaging Het
Vmn2r11 T G 5: 109,202,658 (GRCm39) I140L probably benign Het
Vmn2r6 A T 3: 64,464,263 (GRCm39) N190K probably benign Het
Vps51 T A 19: 6,120,518 (GRCm39) H465L probably benign Het
Zfp318 T G 17: 46,722,995 (GRCm39) I1666S probably benign Het
Zfp446 C T 7: 12,713,231 (GRCm39) R90* probably null Het
Zgrf1 T A 3: 127,396,094 (GRCm39) F547I 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
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'- TCCTTGGCTCCTCAGATGAC -3'
(R):5'- TGCTAGCCATGTTTGCACC -3'

Sequencing Primer
(F):5'- ATGACCTGTCCAGTGACTCAGAG -3'
(R):5'- TCTACACACTTCCTGAGGGAG -3'
Posted On 2016-07-06