Incidental Mutation 'R6913:Tbc1d1'
ID |
539156 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d1
|
Ensembl Gene |
ENSMUSG00000029174 |
Gene Name |
TBC1 domain family, member 1 |
Synonyms |
1110062G02Rik, Nob1, Nobq1 |
MMRRC Submission |
045034-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6913 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 64468452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 566
(C566S)
|
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: C788S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000044577 Gene: ENSMUSG00000029174 AA Change: C788S
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: C695S
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000098756 Gene: ENSMUSG00000029174 AA Change: C695S
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: C566S
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113643 Gene: ENSMUSG00000029174 AA Change: C566S
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: C695S
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000112493 Gene: ENSMUSG00000029174 AA Change: C695S
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.9%
|
Validation Efficiency |
97% (74/76) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
T |
16: 20,197,494 (GRCm39) |
I619N |
possibly damaging |
Het |
Accsl |
T |
C |
2: 93,696,488 (GRCm39) |
K41E |
possibly damaging |
Het |
Actr6 |
T |
C |
10: 89,562,558 (GRCm39) |
E107G |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,771,100 (GRCm39) |
M9L |
probably benign |
Het |
Adamts12 |
T |
A |
15: 11,215,778 (GRCm39) |
H266Q |
probably damaging |
Het |
Adamts16 |
A |
G |
13: 70,877,017 (GRCm39) |
F1208S |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,621,650 (GRCm39) |
D734G |
probably benign |
Het |
Ap1b1 |
T |
C |
11: 4,962,972 (GRCm39) |
V43A |
possibly damaging |
Het |
Asnsd1 |
A |
G |
1: 53,387,390 (GRCm39) |
V79A |
probably damaging |
Het |
Aste1 |
T |
A |
9: 105,274,607 (GRCm39) |
S221R |
probably benign |
Het |
Ccndbp1 |
G |
A |
2: 120,840,347 (GRCm39) |
E94K |
probably benign |
Het |
Cdc34 |
G |
A |
10: 79,520,937 (GRCm39) |
|
probably null |
Het |
Cdh16 |
T |
C |
8: 105,348,896 (GRCm39) |
D67G |
probably benign |
Het |
Chd8 |
T |
C |
14: 52,451,951 (GRCm39) |
E1348G |
probably damaging |
Het |
Chl1 |
C |
T |
6: 103,642,909 (GRCm39) |
Q216* |
probably null |
Het |
Cse1l |
G |
A |
2: 166,771,797 (GRCm39) |
V353I |
possibly damaging |
Het |
Ctbp2 |
G |
A |
7: 132,616,455 (GRCm39) |
S160F |
possibly damaging |
Het |
Cyp1a1 |
C |
A |
9: 57,607,576 (GRCm39) |
T68K |
probably damaging |
Het |
Dennd11 |
T |
C |
6: 40,383,851 (GRCm39) |
N397S |
possibly damaging |
Het |
Dlgap2 |
T |
A |
8: 14,828,374 (GRCm39) |
M594K |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,189,505 (GRCm39) |
E48K |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,647,049 (GRCm39) |
V35A |
probably damaging |
Het |
Edem2 |
A |
T |
2: 155,568,594 (GRCm39) |
S73R |
probably damaging |
Het |
Eps15 |
T |
C |
4: 109,218,427 (GRCm39) |
V430A |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,424,242 (GRCm39) |
N3065S |
probably damaging |
Het |
Gal3st4 |
A |
T |
5: 138,269,090 (GRCm39) |
S123R |
possibly damaging |
Het |
Garnl3 |
T |
A |
2: 32,876,841 (GRCm39) |
I937F |
possibly damaging |
Het |
Gfod2 |
C |
T |
8: 106,443,995 (GRCm39) |
V183M |
possibly damaging |
Het |
Glipr1l1 |
T |
C |
10: 111,898,339 (GRCm39) |
|
probably null |
Het |
Gm7145 |
T |
G |
1: 117,913,711 (GRCm39) |
C198G |
probably damaging |
Het |
Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
H2-Eb2 |
G |
A |
17: 34,552,523 (GRCm39) |
A123T |
possibly damaging |
Het |
Ighv1-55 |
T |
C |
12: 115,172,129 (GRCm39) |
I7V |
probably benign |
Het |
Itpripl2 |
G |
T |
7: 118,090,332 (GRCm39) |
P76T |
possibly damaging |
Het |
Kat6a |
C |
A |
8: 23,393,215 (GRCm39) |
A231E |
possibly damaging |
Het |
Lipo3 |
C |
T |
19: 33,757,705 (GRCm39) |
V255I |
probably benign |
Het |
Mamstr |
A |
T |
7: 45,292,662 (GRCm39) |
M141L |
probably benign |
Het |
Med13 |
A |
G |
11: 86,210,702 (GRCm39) |
V480A |
probably benign |
Het |
Mei1 |
A |
G |
15: 81,973,810 (GRCm39) |
N523S |
probably benign |
Het |
Mill2 |
A |
G |
7: 18,590,351 (GRCm39) |
T144A |
probably null |
Het |
Muc16 |
C |
A |
9: 18,553,959 (GRCm39) |
L4111F |
unknown |
Het |
Mylk2 |
G |
A |
2: 152,755,610 (GRCm39) |
G258E |
possibly damaging |
Het |
Myom2 |
T |
G |
8: 15,115,710 (GRCm39) |
S42A |
probably benign |
Het |
Nab1 |
C |
A |
1: 52,503,995 (GRCm39) |
G401C |
possibly damaging |
Het |
Nifk |
T |
C |
1: 118,260,592 (GRCm39) |
V244A |
possibly damaging |
Het |
Nipsnap2 |
C |
A |
5: 129,830,357 (GRCm39) |
Q224K |
probably benign |
Het |
Nop16 |
T |
G |
13: 54,737,553 (GRCm39) |
K47Q |
probably damaging |
Het |
Nup153 |
A |
T |
13: 46,853,192 (GRCm39) |
S548R |
probably damaging |
Het |
Or2at1 |
A |
C |
7: 99,416,924 (GRCm39) |
D185A |
probably damaging |
Het |
Or4g17 |
A |
G |
2: 111,209,347 (GRCm39) |
M1V |
probably null |
Het |
Or5b111 |
A |
G |
19: 13,290,998 (GRCm39) |
I217T |
probably benign |
Het |
Pard6g |
G |
A |
18: 80,160,534 (GRCm39) |
V216I |
possibly damaging |
Het |
Pcdh20 |
C |
T |
14: 88,706,038 (GRCm39) |
V421I |
probably benign |
Het |
Pcif1 |
G |
A |
2: 164,726,224 (GRCm39) |
|
probably null |
Het |
Pde11a |
C |
A |
2: 76,168,084 (GRCm39) |
V290F |
probably damaging |
Het |
Pisd |
T |
C |
5: 32,894,773 (GRCm39) |
Y511C |
probably damaging |
Het |
Polg |
A |
T |
7: 79,110,405 (GRCm39) |
D276E |
probably damaging |
Het |
Polr3b |
T |
C |
10: 84,549,496 (GRCm39) |
V906A |
probably damaging |
Het |
Prkcg |
C |
T |
7: 3,362,335 (GRCm39) |
P270S |
probably benign |
Het |
Rapgef2 |
T |
A |
3: 78,993,281 (GRCm39) |
I884F |
probably damaging |
Het |
Rpl13 |
C |
A |
8: 123,830,014 (GRCm39) |
N113K |
possibly damaging |
Het |
Rxra |
T |
A |
2: 27,631,186 (GRCm39) |
I139N |
probably damaging |
Het |
Sf3b5 |
T |
A |
10: 12,884,487 (GRCm39) |
C41S |
probably benign |
Het |
Spata31e3 |
G |
T |
13: 50,399,293 (GRCm39) |
P1011H |
probably damaging |
Het |
Stk24 |
C |
T |
14: 121,540,221 (GRCm39) |
R126Q |
probably damaging |
Het |
Taar8b |
T |
C |
10: 23,967,963 (GRCm39) |
D77G |
possibly damaging |
Het |
Tenm3 |
A |
T |
8: 48,751,972 (GRCm39) |
M948K |
probably damaging |
Het |
Thbs4 |
T |
A |
13: 92,894,444 (GRCm39) |
Q693L |
possibly damaging |
Het |
Tnfrsf26 |
A |
T |
7: 143,172,126 (GRCm39) |
C61* |
probably null |
Het |
Trp63 |
A |
G |
16: 25,707,918 (GRCm39) |
E636G |
probably damaging |
Het |
Try5 |
T |
C |
6: 41,288,266 (GRCm39) |
Y121C |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,660,755 (GRCm39) |
|
probably benign |
Het |
Vamp1 |
T |
A |
6: 125,195,908 (GRCm39) |
V55D |
probably damaging |
Het |
Vmn2r117 |
T |
C |
17: 23,698,537 (GRCm39) |
N12S |
probably damaging |
Het |
Vmn2r90 |
G |
A |
17: 17,924,323 (GRCm39) |
G41S |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,007,775 (GRCm39) |
D71E |
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 |
R6824:Tbc1d1
|
UTSW |
5 |
64,414,245 (GRCm39) |
missense |
probably benign |
0.02 |
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'- GTGGCTCATACATAACCTAGTGTGG -3'
(R):5'- GACTGTATCCTGAGTGCAAGG -3'
Sequencing Primer
(F):5'- AAACTCAGGTTTCCAGGCTG -3'
(R):5'- CTGTATCCTGAGTGCAAGGATTAAG -3'
|
Posted On |
2018-11-06 |