Incidental Mutation 'R6824:Tbc1d1'
| ID |
534043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d1
|
| Ensembl Gene |
ENSMUSG00000029174 |
| Gene Name |
TBC1 domain family, member 1 |
| Synonyms |
1110062G02Rik, Nob1, Nobq1 |
| MMRRC Submission |
044936-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6824 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64414245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 73
(H73R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043893]
[ENSMUST00000101195]
[ENSMUST00000119756]
[ENSMUST00000121370]
|
| AlphaFold |
Q60949 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043893
AA Change: H202R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: H202R
| 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: H202R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: H202R
| 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: H73R
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: H73R
| 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: H202R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: H202R
| 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 |
0.0591 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
A |
G |
6: 39,552,058 (GRCm39) |
D275G |
probably benign |
Het |
| Cdh4 |
G |
A |
2: 179,439,351 (GRCm39) |
R166H |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,691,510 (GRCm39) |
K1051E |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,249,938 (GRCm39) |
M16L |
probably benign |
Het |
| Cmas |
A |
G |
6: 142,716,962 (GRCm39) |
T285A |
possibly damaging |
Het |
| Cnga4 |
A |
T |
7: 105,056,036 (GRCm39) |
M213L |
probably benign |
Het |
| Ctif |
C |
T |
18: 75,654,782 (GRCm39) |
R248Q |
probably damaging |
Het |
| Cyth3 |
T |
C |
5: 143,672,265 (GRCm39) |
I60T |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 98,256,328 (GRCm39) |
I310T |
possibly damaging |
Het |
| Defb6 |
T |
C |
8: 19,278,099 (GRCm39) |
I57T |
probably benign |
Het |
| Dnajc27 |
T |
C |
12: 4,156,897 (GRCm39) |
V262A |
possibly damaging |
Het |
| Emsy |
G |
A |
7: 98,242,614 (GRCm39) |
T1175M |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,011,674 (GRCm39) |
V2258E |
probably benign |
Het |
| Gm136 |
G |
A |
4: 34,746,591 (GRCm39) |
T140I |
probably benign |
Het |
| Gps1 |
T |
C |
11: 120,678,254 (GRCm39) |
F265S |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,804,081 (GRCm39) |
V560A |
possibly damaging |
Het |
| Kmt2b |
A |
G |
7: 30,285,701 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
T |
C |
15: 101,906,875 (GRCm39) |
N317S |
possibly damaging |
Het |
| Lad1 |
A |
G |
1: 135,755,479 (GRCm39) |
T252A |
probably benign |
Het |
| Maml2 |
G |
A |
9: 13,608,513 (GRCm39) |
S743N |
possibly damaging |
Het |
| Mrpl9 |
C |
A |
3: 94,350,677 (GRCm39) |
P7H |
possibly damaging |
Het |
| Myb |
T |
A |
10: 21,021,019 (GRCm39) |
H470L |
probably benign |
Het |
| Nicol1 |
T |
C |
5: 34,141,069 (GRCm39) |
|
probably benign |
Het |
| Nr1i3 |
T |
C |
1: 171,042,542 (GRCm39) |
I56T |
probably benign |
Het |
| Nrdc |
A |
G |
4: 108,900,622 (GRCm39) |
Y338C |
probably damaging |
Het |
| Or13n4 |
A |
G |
7: 106,423,664 (GRCm39) |
V23A |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,752 (GRCm39) |
M426K |
probably benign |
Het |
| Pde6d |
T |
C |
1: 86,473,485 (GRCm39) |
T104A |
possibly damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,002,130 (GRCm39) |
T1407S |
probably benign |
Het |
| Recql5 |
C |
T |
11: 115,814,038 (GRCm39) |
R369Q |
possibly damaging |
Het |
| Rnf180 |
T |
A |
13: 105,318,023 (GRCm39) |
D463V |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,882,600 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,758,760 (GRCm39) |
D488G |
probably benign |
Het |
| Slc9a9 |
C |
T |
9: 95,109,251 (GRCm39) |
P538S |
probably damaging |
Het |
| Snap29 |
A |
G |
16: 17,240,370 (GRCm39) |
K159E |
probably benign |
Het |
| Spaca1 |
A |
G |
4: 34,049,869 (GRCm39) |
V43A |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,537,363 (GRCm39) |
S191P |
probably damaging |
Het |
| Tcerg1l |
A |
G |
7: 137,995,844 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,051,449 (GRCm39) |
Y793C |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,475,578 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
G |
T |
7: 41,949,403 (GRCm39) |
V608L |
probably benign |
Het |
| Xpo4 |
A |
T |
14: 57,850,860 (GRCm39) |
I348N |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,612 (GRCm39) |
T249M |
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 |
|
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'- CACAGGTGCCTGAGATCATC -3'
(R):5'- ACATTGTGCCCACCGATGAG -3'
Sequencing Primer
(F):5'- TGAGATCATCAGCTCCATCCGG -3'
(R):5'- CTCTATGTCATTGTCAAAGGAGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation