Incidental Mutation 'IGL02353:Tbc1d1'
| ID |
289569 |
| 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 # |
IGL02353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64414179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 180
(R180Q)
|
| 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: R180Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: R180Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000064305
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101195
AA Change: R180Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: R180Q
| 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: R51Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: R51Q
| 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: R180Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: R180Q
| 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 |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
A |
T |
19: 40,566,364 (GRCm39) |
V102D |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Casp6 |
C |
T |
3: 129,704,175 (GRCm39) |
S87L |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,190 (GRCm39) |
E254G |
possibly damaging |
Het |
| Ccnl1 |
A |
C |
3: 65,856,141 (GRCm39) |
C255G |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,619,955 (GRCm39) |
I485M |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,087 (GRCm39) |
R769G |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,387 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,171 (GRCm39) |
V360A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,824,324 (GRCm39) |
E1068G |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,433,684 (GRCm39) |
N607S |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,279,909 (GRCm39) |
I383V |
probably damaging |
Het |
| Fgd6 |
C |
T |
10: 93,974,258 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Got1 |
A |
G |
19: 43,512,882 (GRCm39) |
S5P |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,764,560 (GRCm39) |
N995K |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,641,681 (GRCm39) |
F159S |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,383,339 (GRCm39) |
S456G |
probably benign |
Het |
| Lhb |
T |
C |
7: 45,070,718 (GRCm39) |
V32A |
possibly damaging |
Het |
| Mau2 |
A |
T |
8: 70,472,288 (GRCm39) |
V602E |
probably damaging |
Het |
| Mpst |
C |
T |
15: 78,294,285 (GRCm39) |
L6F |
probably damaging |
Het |
| Nlrp2 |
G |
A |
7: 5,340,598 (GRCm39) |
T72I |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,444 (GRCm39) |
I32T |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,569,142 (GRCm39) |
Y1239C |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,585,619 (GRCm39) |
F328S |
possibly damaging |
Het |
| Spns1 |
C |
T |
7: 125,974,312 (GRCm39) |
R94Q |
probably damaging |
Het |
| Sult2a3 |
G |
A |
7: 13,855,575 (GRCm39) |
R94* |
probably null |
Het |
| Syt16 |
A |
G |
12: 74,176,245 (GRCm39) |
N38S |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,460,635 (GRCm39) |
I2632T |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,909,543 (GRCm39) |
I595F |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation