Incidental Mutation 'R1922:Tbc1d1'
| ID |
213133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d1
|
| Ensembl Gene |
ENSMUSG00000029174 |
| Gene Name |
TBC1 domain family, member 1 |
| Synonyms |
1110062G02Rik, Nob1, Nobq1 |
| MMRRC Submission |
039940-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1922 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64468564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 732
(E732G)
|
| 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: E825G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: E825G
| 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: E732G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: E732G
| 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: E603G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: E603G
| 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: E732G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: E732G
| 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: ENSMUST00000140960
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.1%
- 10x: 95.8%
- 20x: 93.7%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,359,083 (GRCm39) |
N574K |
probably benign |
Het |
| Adcy9 |
A |
T |
16: 4,129,521 (GRCm39) |
L455H |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Amy1 |
T |
A |
3: 113,358,544 (GRCm39) |
I163F |
probably damaging |
Het |
| Aoc1l2 |
A |
C |
6: 48,908,220 (GRCm39) |
I407L |
probably benign |
Het |
| Armc5 |
A |
G |
7: 127,839,677 (GRCm39) |
S332G |
probably benign |
Het |
| Brd4 |
T |
C |
17: 32,417,060 (GRCm39) |
|
probably benign |
Het |
| Cadps |
T |
C |
14: 12,465,859 (GRCm38) |
K1017R |
possibly damaging |
Het |
| Cfap45 |
A |
G |
1: 172,372,679 (GRCm39) |
E458G |
probably damaging |
Het |
| Chrna1 |
A |
G |
2: 73,398,576 (GRCm39) |
S288P |
probably damaging |
Het |
| Cpe |
T |
A |
8: 65,070,723 (GRCm39) |
D174V |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,441,819 (GRCm39) |
F235L |
possibly damaging |
Het |
| Ddx20 |
A |
T |
3: 105,585,900 (GRCm39) |
V815D |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,336,020 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
C |
9: 54,308,807 (GRCm39) |
H1981Q |
probably benign |
Het |
| Doc2a |
A |
C |
7: 126,450,603 (GRCm39) |
D293A |
probably damaging |
Het |
| Eif2a |
C |
T |
3: 58,455,951 (GRCm39) |
R317C |
probably damaging |
Het |
| Fancc |
A |
G |
13: 63,478,381 (GRCm39) |
V318A |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,033,734 (GRCm39) |
Y172* |
probably null |
Het |
| Gipc3 |
T |
A |
10: 81,174,049 (GRCm39) |
I242F |
probably damaging |
Het |
| Glul |
G |
A |
1: 153,783,070 (GRCm39) |
M214I |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,642,797 (GRCm39) |
I823V |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,318 (GRCm39) |
N50S |
probably benign |
Het |
| Gm6729 |
T |
C |
10: 86,376,782 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr21 |
T |
A |
2: 37,408,350 (GRCm39) |
C299S |
probably damaging |
Het |
| Hapln2 |
T |
A |
3: 87,930,684 (GRCm39) |
N196Y |
probably benign |
Het |
| Hsd17b12 |
A |
G |
2: 93,875,737 (GRCm39) |
V196A |
probably benign |
Het |
| Kalrn |
A |
T |
16: 34,212,463 (GRCm39) |
D28E |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,234,466 (GRCm39) |
L680Q |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,945,251 (GRCm39) |
S505P |
possibly damaging |
Het |
| Klra1 |
A |
C |
6: 130,349,828 (GRCm39) |
N203K |
probably benign |
Het |
| L3mbtl2 |
T |
A |
15: 81,559,822 (GRCm39) |
I236N |
probably damaging |
Het |
| Mcm3ap |
C |
A |
10: 76,343,195 (GRCm39) |
P1696T |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,011,591 (GRCm39) |
D647G |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,566,612 (GRCm39) |
D194G |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,347,426 (GRCm39) |
N407S |
probably benign |
Het |
| Mx2 |
C |
T |
16: 97,361,551 (GRCm39) |
R584C |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,559,055 (GRCm39) |
R597G |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,541,467 (GRCm39) |
D1932G |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,951,585 (GRCm39) |
D205E |
probably benign |
Het |
| Obi1 |
T |
C |
14: 104,716,622 (GRCm39) |
K584E |
probably benign |
Het |
| Or7a37 |
T |
A |
10: 78,805,975 (GRCm39) |
L164* |
probably null |
Het |
| Or8b38 |
T |
C |
9: 37,972,981 (GRCm39) |
Y122H |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,873,848 (GRCm39) |
E183G |
possibly damaging |
Het |
| Peak1 |
A |
T |
9: 56,113,971 (GRCm39) |
W627R |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,814,131 (GRCm39) |
P4167Q |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,017 (GRCm39) |
L560Q |
probably damaging |
Het |
| Prg4 |
C |
T |
1: 150,325,750 (GRCm39) |
W1217* |
probably null |
Het |
| Prkdc |
A |
G |
16: 15,532,130 (GRCm39) |
I1465V |
probably benign |
Het |
| Pus1 |
A |
G |
5: 110,925,505 (GRCm39) |
F105S |
probably damaging |
Het |
| Ranbp3l |
T |
C |
15: 9,057,206 (GRCm39) |
S154P |
probably damaging |
Het |
| Rhbdl1 |
C |
T |
17: 26,054,513 (GRCm39) |
G211S |
probably damaging |
Het |
| Rrp36 |
C |
T |
17: 46,983,671 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Rtp1 |
T |
A |
16: 23,250,160 (GRCm39) |
I175N |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,603,672 (GRCm39) |
N1127Y |
possibly damaging |
Het |
| Setbp1 |
C |
T |
18: 78,901,577 (GRCm39) |
E697K |
possibly damaging |
Het |
| Slc27a3 |
A |
T |
3: 90,293,624 (GRCm39) |
V587E |
probably benign |
Het |
| Slc38a2 |
A |
G |
15: 96,589,043 (GRCm39) |
F454L |
possibly damaging |
Het |
| Sprn |
A |
T |
7: 139,733,458 (GRCm39) |
|
probably benign |
Het |
| St14 |
A |
G |
9: 31,001,166 (GRCm39) |
V855A |
possibly damaging |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,879,355 (GRCm39) |
F671S |
possibly damaging |
Het |
| Tor1aip2 |
C |
A |
1: 155,940,540 (GRCm39) |
P282Q |
probably damaging |
Het |
| Ttc7b |
C |
T |
12: 100,381,389 (GRCm39) |
|
probably null |
Het |
| Ttll2 |
A |
T |
17: 7,619,789 (GRCm39) |
F46Y |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,564,494 (GRCm39) |
S28548P |
probably damaging |
Het |
| Tubb5 |
T |
C |
17: 36,146,190 (GRCm39) |
Y340C |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,897,830 (GRCm39) |
C1170* |
probably null |
Het |
| Usp54 |
G |
T |
14: 20,610,972 (GRCm39) |
H1281Q |
probably benign |
Het |
| Vgll4 |
C |
T |
6: 114,898,296 (GRCm39) |
G22S |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,831,839 (GRCm39) |
I317F |
probably benign |
Het |
| Zdhhc5 |
A |
T |
2: 84,523,771 (GRCm39) |
F225Y |
probably damaging |
Het |
| Zfp652 |
A |
G |
11: 95,654,851 (GRCm39) |
E418G |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCCAGATTATTCCGAGCTG -3'
(R):5'- CGTGGTGCTTCTCATGCTAC -3'
Sequencing Primer
(F):5'- CCAGATTATTCCGAGCTGGGAGAG -3'
(R):5'- GGTGCTTCTCATGCTACACAGG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation