Incidental Mutation 'R9547:Tbc1d1'
ID |
720170 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d1
|
Ensembl Gene |
ENSMUSG00000029174 |
Gene Name |
TBC1 domain family, member 1 |
Synonyms |
1110062G02Rik, Nob1, Nobq1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9547 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64330950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 43
(V43A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043893]
[ENSMUST00000101195]
[ENSMUST00000121370]
[ENSMUST00000199270]
|
AlphaFold |
Q60949 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043893
AA Change: V43A
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000044577 Gene: ENSMUSG00000029174 AA Change: V43A
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000101195
AA Change: V43A
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000098756 Gene: ENSMUSG00000029174 AA Change: V43A
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000121370
AA Change: V43A
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112493 Gene: ENSMUSG00000029174 AA Change: V43A
Domain | Start | End | E-Value | Type |
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: ENSMUST00000199270
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
G |
T |
3: 59,772,656 (GRCm39) |
M53I |
probably benign |
Het |
Abtb1 |
C |
T |
6: 88,815,917 (GRCm39) |
V185M |
probably damaging |
Het |
Acod1 |
A |
T |
14: 103,292,294 (GRCm39) |
S273C |
probably benign |
Het |
Aifm3 |
T |
C |
16: 17,317,604 (GRCm39) |
V75A |
probably benign |
Het |
Anks1 |
T |
C |
17: 28,270,748 (GRCm39) |
L845P |
probably damaging |
Het |
Apc |
A |
G |
18: 34,445,311 (GRCm39) |
K736E |
possibly damaging |
Het |
Atad2 |
A |
G |
15: 57,989,973 (GRCm39) |
S168P |
probably damaging |
Het |
Cand2 |
G |
A |
6: 115,759,757 (GRCm39) |
A143T |
probably benign |
Het |
Cep290 |
A |
T |
10: 100,380,841 (GRCm39) |
H116L |
probably benign |
Het |
Chd9 |
G |
A |
8: 91,683,186 (GRCm39) |
R542H |
unknown |
Het |
Crnkl1 |
T |
C |
2: 145,772,550 (GRCm39) |
M176V |
possibly damaging |
Het |
Dnah14 |
A |
C |
1: 181,420,992 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
A |
G |
12: 110,624,805 (GRCm39) |
E3744G |
probably damaging |
Het |
Ednrb |
T |
C |
14: 104,080,459 (GRCm39) |
I152V |
probably benign |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,911,142 (GRCm39) |
I1620N |
possibly damaging |
Het |
Fbxo4 |
G |
A |
15: 3,998,493 (GRCm39) |
P322S |
probably damaging |
Het |
Fbxw10 |
G |
T |
11: 62,767,647 (GRCm39) |
V828F |
possibly damaging |
Het |
Gm7579 |
CTGTGTG |
CTGTG |
7: 141,765,736 (GRCm39) |
|
probably null |
Het |
Gmip |
T |
C |
8: 70,273,381 (GRCm39) |
S891P |
possibly damaging |
Het |
Grb10 |
A |
G |
11: 11,893,919 (GRCm39) |
I389T |
probably benign |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Hhatl |
A |
G |
9: 121,618,649 (GRCm39) |
Y118H |
probably damaging |
Het |
Ighv1-69 |
A |
G |
12: 115,586,885 (GRCm39) |
F83L |
possibly damaging |
Het |
Intu |
G |
A |
3: 40,608,536 (GRCm39) |
V183I |
probably benign |
Het |
Ipo4 |
A |
G |
14: 55,870,789 (GRCm39) |
|
probably null |
Het |
Kdm4c |
A |
C |
4: 74,323,104 (GRCm39) |
D1012A |
possibly damaging |
Het |
Klrc2 |
C |
G |
6: 129,633,812 (GRCm39) |
A188P |
probably benign |
Het |
Lipc |
T |
C |
9: 70,728,146 (GRCm39) |
D104G |
unknown |
Het |
Lrrc63 |
A |
T |
14: 75,344,828 (GRCm39) |
L420M |
probably damaging |
Het |
Ly75 |
C |
A |
2: 60,161,069 (GRCm39) |
|
probably null |
Het |
Mrpl50 |
T |
A |
4: 49,514,338 (GRCm39) |
H111L |
probably damaging |
Het |
Mtmr9 |
A |
G |
14: 63,779,855 (GRCm39) |
I78T |
possibly damaging |
Het |
Npepl1 |
A |
G |
2: 173,962,030 (GRCm39) |
D304G |
probably null |
Het |
Nphs1 |
C |
T |
7: 30,180,875 (GRCm39) |
S1093F |
probably benign |
Het |
Or2n1d |
G |
T |
17: 38,646,341 (GRCm39) |
V98F |
possibly damaging |
Het |
Or5k3 |
T |
C |
16: 58,970,107 (GRCm39) |
I298T |
possibly damaging |
Het |
Or8g24 |
G |
A |
9: 38,989,927 (GRCm39) |
T38I |
probably damaging |
Het |
Pcdh18 |
A |
T |
3: 49,709,506 (GRCm39) |
I603K |
possibly damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,484,174 (GRCm39) |
Y818N |
unknown |
Het |
Phf10 |
A |
G |
17: 15,166,459 (GRCm39) |
|
probably null |
Het |
Phgdh |
A |
G |
3: 98,241,950 (GRCm39) |
S55P |
probably damaging |
Het |
Poll |
G |
T |
19: 45,546,359 (GRCm39) |
P227H |
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,861,561 (GRCm39) |
S576R |
probably damaging |
Het |
Psg26 |
T |
C |
7: 18,214,087 (GRCm39) |
I192V |
probably benign |
Het |
Rpgrip1l |
T |
C |
8: 91,977,873 (GRCm39) |
D1038G |
probably benign |
Het |
Snx18 |
A |
G |
13: 113,753,754 (GRCm39) |
M393T |
possibly damaging |
Het |
Srsf11 |
A |
G |
3: 157,717,735 (GRCm39) |
C448R |
unknown |
Het |
Sv2c |
A |
G |
13: 96,185,008 (GRCm39) |
I223T |
probably benign |
Het |
Tex21 |
T |
C |
12: 76,253,591 (GRCm39) |
T441A |
probably damaging |
Het |
Thnsl2 |
T |
A |
6: 71,116,810 (GRCm39) |
D114V |
probably damaging |
Het |
Trpm2 |
A |
G |
10: 77,748,467 (GRCm39) |
V1401A |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,049,588 (GRCm39) |
S769P |
probably benign |
Het |
Tut4 |
A |
G |
4: 108,370,429 (GRCm39) |
D776G |
probably benign |
Het |
Uba5 |
A |
G |
9: 103,931,567 (GRCm39) |
S222P |
probably damaging |
Het |
Ublcp1 |
T |
C |
11: 44,347,251 (GRCm39) |
Y290C |
probably damaging |
Het |
Vmn1r216 |
A |
T |
13: 23,283,455 (GRCm39) |
D46V |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,112,735 (GRCm39) |
F789I |
probably damaging |
Het |
Zfp266 |
A |
G |
9: 20,411,746 (GRCm39) |
S144P |
probably benign |
Het |
|
Other mutations in Tbc1d1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- CTCAGAAGCACGTGAAATAGATCAC -3'
(R):5'- TGAATCAGTTTGTGCACACGC -3'
Sequencing Primer
(F):5'- GGATGGAGGCAATCACAT -3'
(R):5'- CTGAGGCTTGCACTCAAAGATGC -3'
|
Posted On |
2022-07-18 |