Incidental Mutation 'R7653:Tbc1d1'
| ID |
580466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d1
|
| Ensembl Gene |
ENSMUSG00000029174 |
| Gene Name |
TBC1 domain family, member 1 |
| Synonyms |
1110062G02Rik, Nob1, Nobq1 |
| MMRRC Submission |
045730-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7653 (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 64414133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 165
(F165L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043893]
[ENSMUST00000101195]
[ENSMUST00000119756]
[ENSMUST00000121370]
|
| AlphaFold |
Q60949 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043893
AA Change: F165L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: F165L
| 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 |
probably benign
Transcript: ENSMUST00000101195
AA Change: F165L
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: F165L
| 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: ENSMUST00000119756
AA Change: F36L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: F36L
| Domain | Start | End | E-Value | Type |
|---|
|
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: F165L
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: F165L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
A |
T |
6: 92,805,050 (GRCm39) |
Q70L |
unknown |
Het |
| Adamts12 |
T |
A |
15: 11,257,115 (GRCm39) |
N489K |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,577 (GRCm39) |
D801G |
possibly damaging |
Het |
| Apex1 |
T |
G |
14: 51,163,995 (GRCm39) |
N173K |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,168,441 (GRCm39) |
N808I |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,105,821 (GRCm39) |
Y706C |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,602,731 (GRCm39) |
F1604Y |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,401,602 (GRCm39) |
Y1422* |
probably null |
Het |
| Bace2 |
T |
A |
16: 97,237,852 (GRCm39) |
V38E |
|
Het |
| Birc6 |
C |
A |
17: 74,954,729 (GRCm39) |
L3442I |
possibly damaging |
Het |
| C6 |
T |
A |
15: 4,844,244 (GRCm39) |
S889T |
|
Het |
| Calcrl |
A |
T |
2: 84,175,529 (GRCm39) |
L275* |
probably null |
Het |
| Casp6 |
T |
C |
3: 129,705,872 (GRCm39) |
Y180H |
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,703,910 (GRCm39) |
M51V |
probably benign |
Het |
| Cdhr1 |
G |
T |
14: 36,804,158 (GRCm39) |
P500Q |
probably benign |
Het |
| Celsr3 |
G |
A |
9: 108,712,269 (GRCm39) |
W1732* |
probably null |
Het |
| Ces2g |
T |
C |
8: 105,689,285 (GRCm39) |
V87A |
probably damaging |
Het |
| Chil6 |
T |
C |
3: 106,301,641 (GRCm39) |
N153S |
possibly damaging |
Het |
| Chrna5 |
A |
T |
9: 54,909,718 (GRCm39) |
D113V |
probably benign |
Het |
| Cimip2b |
T |
G |
4: 43,427,273 (GRCm39) |
|
probably null |
Het |
| Cox20 |
A |
G |
1: 178,150,164 (GRCm39) |
T113A |
probably benign |
Het |
| Cryl1 |
T |
C |
14: 57,541,148 (GRCm39) |
I179V |
probably benign |
Het |
| Dennd3 |
A |
G |
15: 73,434,275 (GRCm39) |
T982A |
probably damaging |
Het |
| Drosha |
G |
A |
15: 12,859,522 (GRCm39) |
V577I |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,117,570 (GRCm39) |
S2240P |
probably benign |
Het |
| Eif1ad14 |
T |
A |
12: 87,886,248 (GRCm39) |
D127V |
unknown |
Het |
| Fbxl5 |
C |
T |
5: 43,916,116 (GRCm39) |
S432N |
probably benign |
Het |
| Fez1 |
T |
A |
9: 36,772,146 (GRCm39) |
S150R |
probably benign |
Het |
| Gabrb2 |
T |
G |
11: 42,378,039 (GRCm39) |
M85R |
probably damaging |
Het |
| Lhx4 |
A |
G |
1: 155,580,617 (GRCm39) |
V203A |
probably damaging |
Het |
| Med23 |
G |
A |
10: 24,780,282 (GRCm39) |
D977N |
probably damaging |
Het |
| Mplkip |
T |
C |
13: 17,870,367 (GRCm39) |
F100L |
probably damaging |
Het |
| Ncoa7 |
C |
T |
10: 30,570,239 (GRCm39) |
G240E |
probably damaging |
Het |
| Nedd4 |
A |
G |
9: 72,650,910 (GRCm39) |
E827G |
probably damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,413,065 (GRCm39) |
F207L |
probably benign |
Het |
| Nr2f1 |
A |
T |
13: 78,343,716 (GRCm39) |
S183T |
probably benign |
Het |
| Ocel1 |
A |
G |
8: 71,824,560 (GRCm39) |
E81G |
probably benign |
Het |
| Or10aa3 |
T |
C |
1: 173,878,488 (GRCm39) |
V183A |
probably benign |
Het |
| Or10g3b |
C |
A |
14: 52,586,889 (GRCm39) |
G205* |
probably null |
Het |
| Or4n4b |
C |
T |
14: 50,536,604 (GRCm39) |
G54E |
possibly damaging |
Het |
| Pcdh8 |
G |
A |
14: 80,005,086 (GRCm39) |
P980S |
probably benign |
Het |
| Pex26 |
A |
T |
6: 121,170,510 (GRCm39) |
Q285L |
possibly damaging |
Het |
| Pgap6 |
T |
A |
17: 26,339,423 (GRCm39) |
M579K |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,737,763 (GRCm39) |
N1603I |
probably benign |
Het |
| Poli |
A |
T |
18: 70,642,698 (GRCm39) |
C501S |
probably benign |
Het |
| Ppp4r4 |
C |
T |
12: 103,550,404 (GRCm39) |
T276I |
probably damaging |
Het |
| Rbpj |
T |
A |
5: 53,747,693 (GRCm39) |
M1K |
probably null |
Het |
| Recql4 |
T |
A |
15: 76,587,982 (GRCm39) |
M1204L |
probably benign |
Het |
| Ribc2 |
T |
C |
15: 85,025,876 (GRCm39) |
I284T |
probably benign |
Het |
| Rreb1 |
C |
A |
13: 38,114,362 (GRCm39) |
Q574K |
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,357,424 (GRCm39) |
L959Q |
probably damaging |
Het |
| Shank1 |
C |
A |
7: 43,969,093 (GRCm39) |
H329Q |
unknown |
Het |
| Soat2 |
A |
T |
15: 102,071,013 (GRCm39) |
D469V |
probably damaging |
Het |
| Spag7 |
T |
A |
11: 70,555,691 (GRCm39) |
H82L |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,675,271 (GRCm39) |
I248V |
probably benign |
Het |
| Tacr3 |
A |
G |
3: 134,566,843 (GRCm39) |
I239V |
probably benign |
Het |
| Tchhl1 |
A |
G |
3: 93,378,451 (GRCm39) |
E385G |
probably benign |
Het |
| Tecta |
C |
T |
9: 42,248,532 (GRCm39) |
D1957N |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,938,174 (GRCm39) |
I1501V |
probably benign |
Het |
| Tet2 |
G |
T |
3: 133,192,146 (GRCm39) |
Q763K |
probably benign |
Het |
| Timd6 |
A |
C |
11: 46,475,200 (GRCm39) |
S132R |
probably benign |
Het |
| Tox3 |
G |
A |
8: 90,975,617 (GRCm39) |
T338I |
probably damaging |
Het |
| Usp30 |
G |
A |
5: 114,259,730 (GRCm39) |
D479N |
probably damaging |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,785 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,879 (GRCm39) |
S42T |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,816,258 (GRCm39) |
V699D |
possibly damaging |
Het |
| Vwa2 |
A |
T |
19: 56,897,767 (GRCm39) |
T691S |
probably benign |
Het |
| Wdr31 |
T |
A |
4: 62,381,666 (GRCm39) |
Q55L |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,204,040 (GRCm39) |
F1107L |
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,143,887 (GRCm39) |
H531R |
probably damaging |
Het |
| Zfp366 |
T |
C |
13: 99,365,709 (GRCm39) |
L290P |
probably damaging |
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 |
|
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'- ATCTGTGAGCCAGTACAGCC -3'
(R):5'- GTGAGAAGGATTTGCGCATG -3'
Sequencing Primer
(F):5'- TCCATCAGCCAGGGTCC -3'
(R):5'- ATTTGCGCATGGGCCTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation