Incidental Mutation 'IGL03003:Tbc1d1'
| ID |
407441 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d1
|
| Ensembl Gene |
ENSMUSG00000029174 |
| Gene Name |
TBC1 domain family, member 1 |
| Synonyms |
1110062G02Rik, Nob1, Nobq1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03003
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 64473781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 768
(W768L)
|
| 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: W861L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: W861L
| 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: W768L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: W768L
| 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: W639L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: W639L
| 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: W768L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: W768L
| 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 |
noncoding transcript
Transcript: ENSMUST00000121819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140960
|
| Coding Region Coverage |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
T |
1: 130,671,509 (GRCm39) |
P577L |
probably damaging |
Het |
| Aff3 |
A |
T |
1: 38,248,651 (GRCm39) |
S819T |
probably damaging |
Het |
| Aftph |
G |
T |
11: 20,676,982 (GRCm39) |
S209* |
probably null |
Het |
| Astn1 |
T |
A |
1: 158,439,965 (GRCm39) |
D844E |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,828,608 (GRCm39) |
K29E |
probably benign |
Het |
| Ccdc93 |
T |
C |
1: 121,390,846 (GRCm39) |
S273P |
possibly damaging |
Het |
| Cd200r3 |
C |
A |
16: 44,764,139 (GRCm39) |
H2N |
probably benign |
Het |
| Cd200r3 |
G |
T |
16: 44,764,138 (GRCm39) |
M1I |
probably null |
Het |
| Col7a1 |
G |
A |
9: 108,804,024 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,642,640 (GRCm39) |
M240L |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,617,906 (GRCm39) |
V105A |
possibly damaging |
Het |
| Dmbt1 |
C |
A |
7: 130,684,409 (GRCm39) |
P635Q |
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,469,876 (GRCm39) |
M634K |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,495,140 (GRCm39) |
Y138H |
probably damaging |
Het |
| Fga |
T |
C |
3: 82,940,037 (GRCm39) |
S564P |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,244,094 (GRCm39) |
L142S |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
| Helz2 |
A |
G |
2: 180,882,046 (GRCm39) |
V249A |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,323,498 (GRCm39) |
T4204K |
probably damaging |
Het |
| Ift81 |
T |
C |
5: 122,732,725 (GRCm39) |
I270V |
probably benign |
Het |
| Katnip |
A |
T |
7: 125,451,132 (GRCm39) |
I1088F |
probably damaging |
Het |
| Kif6 |
C |
T |
17: 50,060,899 (GRCm39) |
R411* |
probably null |
Het |
| Klhl35 |
T |
A |
7: 99,119,550 (GRCm39) |
V345D |
probably damaging |
Het |
| Mcm3ap |
C |
A |
10: 76,340,531 (GRCm39) |
D1531E |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,417,351 (GRCm39) |
D3432E |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,379,798 (GRCm39) |
V998D |
probably damaging |
Het |
| Nlrc3 |
C |
A |
16: 3,782,726 (GRCm39) |
V228L |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,310,384 (GRCm39) |
H1456R |
probably damaging |
Het |
| Nt5c1b |
C |
T |
12: 10,424,910 (GRCm39) |
A210V |
possibly damaging |
Het |
| Or13a18 |
A |
G |
7: 140,190,283 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or1l4b |
T |
C |
2: 37,036,464 (GRCm39) |
V80A |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,941,521 (GRCm39) |
Y15H |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,178,465 (GRCm39) |
N552Y |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,892,123 (GRCm39) |
S280T |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,812,577 (GRCm39) |
|
probably null |
Het |
| Polh |
A |
T |
17: 46,505,292 (GRCm39) |
V108E |
possibly damaging |
Het |
| Prob1 |
A |
G |
18: 35,786,428 (GRCm39) |
S609P |
possibly damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,002,582 (GRCm39) |
N1557K |
probably damaging |
Het |
| Rev1 |
A |
C |
1: 38,127,154 (GRCm39) |
F369V |
possibly damaging |
Het |
| Rgma |
A |
G |
7: 73,067,188 (GRCm39) |
N148D |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,330,587 (GRCm39) |
L1003S |
probably damaging |
Het |
| Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,076,925 (GRCm39) |
L337P |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,565,253 (GRCm39) |
Y15* |
probably null |
Het |
| Slc4a9 |
T |
C |
18: 36,669,946 (GRCm39) |
S722P |
probably damaging |
Het |
| Smarcc1 |
A |
G |
9: 110,035,168 (GRCm39) |
N864D |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,432,021 (GRCm39) |
L745P |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,380,699 (GRCm39) |
D137G |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,887 (GRCm39) |
D7G |
probably benign |
Het |
| Tmem109 |
A |
C |
19: 10,851,695 (GRCm39) |
S64A |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,350,834 (GRCm39) |
R333G |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,611,955 (GRCm39) |
S17316R |
probably damaging |
Het |
| Usp10 |
A |
G |
8: 120,681,549 (GRCm39) |
T668A |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,345,906 (GRCm39) |
F2716I |
possibly 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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation