Incidental Mutation 'R4722:Tbc1d1'
| ID |
354529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d1
|
| Ensembl Gene |
ENSMUSG00000029174 |
| Gene Name |
TBC1 domain family, member 1 |
| Synonyms |
1110062G02Rik, Nob1, Nobq1 |
| MMRRC Submission |
041987-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4722 (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 64420900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 346
(F346S)
|
| 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: F346S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: F346S
| 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 damaging
Transcript: ENSMUST00000101195
AA Change: F346S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: F346S
| 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 damaging
Transcript: ENSMUST00000119756
AA Change: F217S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: F217S
| 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 damaging
Transcript: ENSMUST00000121370
AA Change: F346S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: F346S
| 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 |
|
| Meta Mutation Damage Score |
0.9222 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
T |
12: 55,107,922 (GRCm39) |
D92E |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,484,403 (GRCm39) |
F1620L |
probably damaging |
Het |
| Abcf1 |
T |
C |
17: 36,268,933 (GRCm39) |
|
probably benign |
Het |
| Adtrp |
T |
C |
13: 41,920,823 (GRCm39) |
H248R |
probably benign |
Het |
| Aldh1b1 |
T |
G |
4: 45,803,472 (GRCm39) |
F337V |
probably damaging |
Het |
| Amz2 |
C |
T |
11: 109,325,457 (GRCm39) |
L272F |
probably damaging |
Het |
| Asic2 |
A |
T |
11: 81,859,009 (GRCm39) |
M1K |
probably null |
Het |
| Avpr1a |
T |
A |
10: 122,284,906 (GRCm39) |
V66E |
possibly damaging |
Het |
| AW554918 |
C |
A |
18: 25,307,772 (GRCm39) |
Y28* |
probably null |
Het |
| Cdc25b |
C |
T |
2: 131,035,271 (GRCm39) |
P343L |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,822,445 (GRCm39) |
I846K |
probably damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,091,017 (GRCm39) |
M688K |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,586,298 (GRCm39) |
I505F |
probably damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,290,521 (GRCm39) |
V290A |
possibly damaging |
Het |
| Dtl |
G |
T |
1: 191,288,953 (GRCm39) |
Q254K |
possibly damaging |
Het |
| Enpp2 |
T |
G |
15: 54,750,985 (GRCm39) |
K265T |
probably damaging |
Het |
| Epm2aip1 |
TGTCGCCG |
TG |
9: 111,101,152 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
T |
A |
5: 3,593,949 (GRCm39) |
|
probably null |
Het |
| Fuom |
A |
G |
7: 139,679,480 (GRCm39) |
|
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,799,734 (GRCm39) |
|
probably benign |
Het |
| Gas8 |
T |
A |
8: 124,252,374 (GRCm39) |
I171N |
possibly damaging |
Het |
| Gipc3 |
T |
G |
10: 81,177,129 (GRCm39) |
D147A |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm5591 |
T |
C |
7: 38,218,572 (GRCm39) |
K767R |
probably damaging |
Het |
| Kctd8 |
G |
A |
5: 69,498,544 (GRCm39) |
P34L |
possibly damaging |
Het |
| Kmt2b |
G |
A |
7: 30,282,627 (GRCm39) |
R403C |
probably damaging |
Het |
| Krt84 |
A |
T |
15: 101,436,846 (GRCm39) |
I396N |
probably damaging |
Het |
| Lrrk2 |
C |
A |
15: 91,573,104 (GRCm39) |
F217L |
probably damaging |
Het |
| Med27 |
T |
A |
2: 29,414,447 (GRCm39) |
D290E |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,015,486 (GRCm39) |
Q184R |
probably benign |
Het |
| Mlxip |
A |
T |
5: 123,585,265 (GRCm39) |
K591M |
probably benign |
Het |
| Mutyh |
T |
A |
4: 116,674,069 (GRCm39) |
L233H |
probably damaging |
Het |
| Naip6 |
G |
T |
13: 100,443,580 (GRCm39) |
H253N |
possibly damaging |
Het |
| Nynrin |
A |
G |
14: 56,091,852 (GRCm39) |
E56G |
probably damaging |
Het |
| Oip5 |
C |
T |
2: 119,443,492 (GRCm39) |
|
probably null |
Het |
| Or10a4 |
T |
A |
7: 106,696,777 (GRCm39) |
I35N |
possibly damaging |
Het |
| Or10ak12 |
T |
C |
4: 118,666,146 (GRCm39) |
N305S |
probably damaging |
Het |
| Or4c104 |
T |
G |
2: 88,586,356 (GRCm39) |
H221P |
possibly damaging |
Het |
| Or4c15 |
T |
C |
2: 88,760,324 (GRCm39) |
I112V |
possibly damaging |
Het |
| Or5p61 |
T |
A |
7: 107,758,445 (GRCm39) |
I212F |
probably benign |
Het |
| Oxr1 |
T |
C |
15: 41,677,045 (GRCm39) |
S132P |
probably damaging |
Het |
| Pcdhac1 |
C |
T |
18: 37,224,933 (GRCm39) |
T582I |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,844,858 (GRCm39) |
I176T |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,169,734 (GRCm39) |
T30A |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,976,480 (GRCm39) |
M1294T |
probably benign |
Het |
| Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
| Rnmt |
T |
A |
18: 68,438,952 (GRCm39) |
N20K |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,531,228 (GRCm39) |
T550S |
possibly damaging |
Het |
| Shank1 |
T |
A |
7: 43,962,638 (GRCm39) |
Y117* |
probably null |
Het |
| Skint5 |
T |
A |
4: 113,751,052 (GRCm39) |
K331I |
unknown |
Het |
| Slc5a1 |
A |
G |
5: 33,304,055 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Slfn14 |
T |
C |
11: 83,174,244 (GRCm39) |
E249G |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,650,496 (GRCm39) |
S544P |
probably damaging |
Het |
| St6galnac3 |
A |
T |
3: 153,117,166 (GRCm39) |
Y186N |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,129,945 (GRCm39) |
I75K |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,791,313 (GRCm39) |
M1737T |
possibly damaging |
Het |
| Toe1 |
A |
T |
4: 116,662,397 (GRCm39) |
Y283N |
probably damaging |
Het |
| Tubal3 |
G |
T |
13: 3,978,185 (GRCm39) |
G34C |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,814,006 (GRCm39) |
L77P |
probably damaging |
Het |
| Vmn1r212 |
T |
C |
13: 23,068,078 (GRCm39) |
Y85C |
probably damaging |
Het |
| Yju2b |
A |
T |
8: 84,985,439 (GRCm39) |
C277S |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,307,536 (GRCm39) |
S162P |
probably damaging |
Het |
| Zfp712 |
A |
G |
13: 67,190,177 (GRCm39) |
S117P |
probably benign |
Het |
| Zic4 |
G |
T |
9: 91,261,257 (GRCm39) |
G164C |
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 |
|
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'- TGCTCTATAAATGGGCAGCGTC -3'
(R):5'- GGGTGAAAGCAAGCGTATCTTTC -3'
Sequencing Primer
(F):5'- TCTATAAATGGGCAGCGTCACCAG -3'
(R):5'- ATGCAAATGAGTCTCTCGGATGC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation