Incidental Mutation 'R5510:Tbc1d1'
ID |
431138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d1
|
Ensembl Gene |
ENSMUSG00000029174 |
Gene Name |
TBC1 domain family, member 1 |
Synonyms |
1110062G02Rik, Nob1, Nobq1 |
MMRRC Submission |
043071-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5510 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 64490738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 863
(G863D)
|
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: G956D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044577 Gene: ENSMUSG00000029174 AA Change: G956D
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: G863D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098756 Gene: ENSMUSG00000029174 AA Change: G863D
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: G734D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113643 Gene: ENSMUSG00000029174 AA Change: G734D
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: G863D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112493 Gene: ENSMUSG00000029174 AA Change: G863D
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.1%
|
Validation Efficiency |
99% (91/92) |
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 |
Adgrl4 |
T |
G |
3: 151,203,467 (GRCm39) |
I59R |
possibly damaging |
Het |
Adgrv1 |
T |
A |
13: 81,593,363 (GRCm39) |
D4208V |
probably damaging |
Het |
Aimp2 |
A |
T |
5: 143,843,347 (GRCm39) |
|
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Ankib1 |
A |
G |
5: 3,779,693 (GRCm39) |
V392A |
probably benign |
Het |
Ap2b1 |
A |
G |
11: 83,227,563 (GRCm39) |
|
probably null |
Het |
Arsg |
A |
G |
11: 109,418,700 (GRCm39) |
E232G |
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,162,920 (GRCm39) |
F144S |
probably benign |
Het |
Bud13 |
T |
A |
9: 46,203,498 (GRCm39) |
M111K |
probably damaging |
Het |
Cav2 |
T |
C |
6: 17,287,012 (GRCm39) |
F152S |
possibly damaging |
Het |
Ccdc180 |
A |
G |
4: 45,928,046 (GRCm39) |
T1194A |
probably damaging |
Het |
Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
T |
C |
12: 100,911,290 (GRCm39) |
K848R |
probably damaging |
Het |
Ceacam15 |
A |
G |
7: 16,406,024 (GRCm39) |
W176R |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,415,100 (GRCm39) |
D136E |
probably benign |
Het |
Dclk2 |
T |
C |
3: 86,813,344 (GRCm39) |
I201V |
possibly damaging |
Het |
Defa24 |
T |
A |
8: 22,224,612 (GRCm39) |
D20E |
probably damaging |
Het |
Dgcr8 |
T |
C |
16: 18,095,039 (GRCm39) |
N566D |
probably damaging |
Het |
Dido1 |
C |
A |
2: 180,326,966 (GRCm39) |
V386L |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dtx3 |
G |
A |
10: 127,028,807 (GRCm39) |
P141S |
probably benign |
Het |
Fmn1 |
T |
C |
2: 113,426,714 (GRCm39) |
Y1144H |
probably damaging |
Het |
Gabbr2 |
A |
G |
4: 46,734,113 (GRCm39) |
L535P |
probably damaging |
Het |
Gimap3 |
T |
A |
6: 48,742,183 (GRCm39) |
E249V |
possibly damaging |
Het |
Git2 |
A |
T |
5: 114,881,835 (GRCm39) |
|
probably null |
Het |
Gm4922 |
T |
C |
10: 18,659,745 (GRCm39) |
T326A |
probably benign |
Het |
Gsdmc2 |
T |
G |
15: 63,700,045 (GRCm39) |
E242D |
probably benign |
Het |
Hdgfl2 |
G |
A |
17: 56,389,118 (GRCm39) |
G31S |
possibly damaging |
Het |
Herc2 |
A |
T |
7: 55,856,519 (GRCm39) |
I3956F |
probably damaging |
Het |
Hsf2bp |
G |
A |
17: 32,165,721 (GRCm39) |
R134C |
unknown |
Het |
Igf1r |
G |
C |
7: 67,843,107 (GRCm39) |
R739S |
probably benign |
Het |
Igkv4-51 |
T |
C |
6: 69,658,443 (GRCm39) |
E102G |
probably damaging |
Het |
Kif1a |
T |
G |
1: 92,969,414 (GRCm39) |
I1156L |
possibly damaging |
Het |
Kti12 |
T |
C |
4: 108,705,821 (GRCm39) |
L245S |
probably damaging |
Het |
Med17 |
A |
G |
9: 15,181,700 (GRCm39) |
S17P |
probably benign |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Mrps18b |
A |
G |
17: 36,225,215 (GRCm39) |
|
probably benign |
Het |
Ms4a8a |
A |
G |
19: 11,056,828 (GRCm39) |
S85P |
probably benign |
Het |
Msln |
T |
C |
17: 25,968,847 (GRCm39) |
Q487R |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,228,549 (GRCm39) |
N363S |
probably benign |
Het |
Myo6 |
T |
C |
9: 80,152,942 (GRCm39) |
F192L |
probably damaging |
Het |
Nfkbiz |
T |
C |
16: 55,634,383 (GRCm39) |
D688G |
probably damaging |
Het |
Nsun4 |
C |
T |
4: 115,908,974 (GRCm39) |
V529I |
possibly damaging |
Het |
Or12d15 |
A |
T |
17: 37,694,192 (GRCm39) |
M245L |
probably benign |
Het |
Or1j16 |
G |
A |
2: 36,530,975 (GRCm39) |
R308K |
probably benign |
Het |
Or5p70 |
G |
A |
7: 107,994,332 (GRCm39) |
A2T |
probably benign |
Het |
Phf11a |
C |
A |
14: 59,516,834 (GRCm39) |
C208F |
probably damaging |
Het |
Plekhh2 |
G |
A |
17: 84,874,275 (GRCm39) |
C520Y |
probably benign |
Het |
Plxna4 |
C |
A |
6: 32,155,293 (GRCm39) |
M1550I |
probably damaging |
Het |
Pnpla6 |
A |
T |
8: 3,571,397 (GRCm39) |
Y140F |
probably damaging |
Het |
Ppp1r12a |
T |
A |
10: 108,085,488 (GRCm39) |
S478T |
possibly damaging |
Het |
Prkcz |
C |
A |
4: 155,357,393 (GRCm39) |
|
probably null |
Het |
Prss55 |
T |
A |
14: 64,314,574 (GRCm39) |
M199L |
probably damaging |
Het |
Qrich1 |
G |
A |
9: 108,433,659 (GRCm39) |
V651I |
possibly damaging |
Het |
Ralyl |
T |
C |
3: 13,842,005 (GRCm39) |
V47A |
probably damaging |
Het |
Raph1 |
A |
T |
1: 60,562,105 (GRCm39) |
|
probably benign |
Het |
Rgs12 |
T |
C |
5: 35,123,383 (GRCm39) |
Y389H |
probably damaging |
Het |
Sec24b |
C |
A |
3: 129,834,544 (GRCm39) |
G82V |
probably damaging |
Het |
Sema4a |
A |
G |
3: 88,357,293 (GRCm39) |
|
probably null |
Het |
Slc25a11 |
A |
T |
11: 70,536,361 (GRCm39) |
W149R |
probably damaging |
Het |
Slc2a7 |
T |
G |
4: 150,244,551 (GRCm39) |
S340A |
probably benign |
Het |
Slc32a1 |
T |
A |
2: 158,456,716 (GRCm39) |
M457K |
probably damaging |
Het |
Spata31d1e |
T |
C |
13: 59,890,234 (GRCm39) |
|
probably null |
Het |
Spint4 |
C |
T |
2: 164,542,812 (GRCm39) |
T135M |
probably damaging |
Het |
Sult2a2 |
A |
C |
7: 13,472,228 (GRCm39) |
N142H |
probably damaging |
Het |
Tmem156 |
G |
A |
5: 65,232,917 (GRCm39) |
T151M |
probably benign |
Het |
Trip12 |
T |
C |
1: 84,746,401 (GRCm39) |
Q459R |
probably damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,605,095 (GRCm39) |
C136Y |
probably damaging |
Het |
Vmn2r51 |
C |
T |
7: 9,836,545 (GRCm39) |
V79M |
possibly damaging |
Het |
Vmn2r67 |
A |
T |
7: 84,801,023 (GRCm39) |
D304E |
probably benign |
Het |
Wdr93 |
T |
A |
7: 79,399,779 (GRCm39) |
F123I |
probably damaging |
Het |
Zfp672 |
A |
T |
11: 58,207,456 (GRCm39) |
C288* |
probably null |
Het |
Zp1 |
T |
C |
19: 10,896,769 (GRCm39) |
Y90C |
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 |
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 |
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'- ACTACACTCACTGATCAGAGGTG -3'
(R):5'- CAAGGATGCTTGGTACCTGC -3'
Sequencing Primer
(F):5'- TGGTTGGTACTTAAGGCACAC -3'
(R):5'- AATCATGTCTGGCCGATACTG -3'
|
Posted On |
2016-10-05 |