Incidental Mutation 'R5874:Tbc1d1'
| ID |
455373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d1
|
| Ensembl Gene |
ENSMUSG00000029174 |
| Gene Name |
TBC1 domain family, member 1 |
| Synonyms |
1110062G02Rik, Nob1, Nobq1 |
| MMRRC Submission |
044081-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5874 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 64507273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 1163
(*1163W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043893]
[ENSMUST00000101195]
[ENSMUST00000119756]
[ENSMUST00000121370]
|
| AlphaFold |
Q60949 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043893
AA Change: *1256W
|
| SMART Domains |
Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: *1256W
| 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 null
Transcript: ENSMUST00000101195
AA Change: *1163W
|
| SMART Domains |
Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: *1163W
| 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 null
Transcript: ENSMUST00000119756
AA Change: *1034W
|
| SMART Domains |
Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: *1034W
| 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 null
Transcript: ENSMUST00000121370
AA Change: *1163W
|
| SMART Domains |
Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: *1163W
| 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 |
0.8635 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
98% (86/88) |
| 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 |
|---|
| 4930432E11Rik |
G |
A |
7: 29,280,610 (GRCm39) |
|
noncoding transcript |
Het |
| Adam17 |
T |
C |
12: 21,379,087 (GRCm39) |
D654G |
possibly damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,773,322 (GRCm39) |
H1373L |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,416,656 (GRCm39) |
|
probably benign |
Het |
| Calu |
A |
G |
6: 29,372,617 (GRCm39) |
D112G |
probably damaging |
Het |
| Camk2a |
G |
C |
18: 61,076,272 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
C |
A |
19: 43,944,951 (GRCm39) |
R452L |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,507,666 (GRCm39) |
E2780V |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,879,413 (GRCm39) |
T824A |
probably benign |
Het |
| Cuedc2 |
C |
T |
19: 46,319,824 (GRCm39) |
V164M |
possibly damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,503,243 (GRCm39) |
D74V |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,422,780 (GRCm39) |
S311P |
probably damaging |
Het |
| Ddx10 |
A |
C |
9: 53,140,498 (GRCm39) |
I301R |
possibly damaging |
Het |
| Dmpk |
T |
C |
7: 18,826,007 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
C |
T |
1: 46,230,885 (GRCm39) |
T1381I |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,218,670 (GRCm39) |
N1703K |
probably damaging |
Het |
| Dtwd1 |
T |
A |
2: 126,000,359 (GRCm39) |
H98Q |
probably damaging |
Het |
| Ecel1 |
A |
C |
1: 87,075,731 (GRCm39) |
V769G |
probably benign |
Het |
| Eno4 |
T |
C |
19: 58,935,238 (GRCm39) |
V150A |
probably benign |
Het |
| Evc2 |
C |
T |
5: 37,574,883 (GRCm39) |
|
probably benign |
Het |
| Ext1 |
T |
A |
15: 52,965,148 (GRCm39) |
Q406L |
possibly damaging |
Het |
| Foxf2 |
A |
G |
13: 31,810,775 (GRCm39) |
H238R |
probably benign |
Het |
| Frem2 |
C |
G |
3: 53,444,910 (GRCm39) |
G2407A |
probably benign |
Het |
| Fzd10 |
A |
G |
5: 128,678,364 (GRCm39) |
E28G |
probably benign |
Het |
| Galnt15 |
T |
C |
14: 31,774,324 (GRCm39) |
F363L |
probably damaging |
Het |
| Gm1758 |
C |
T |
16: 14,325,037 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5866 |
C |
T |
5: 52,739,956 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr9 |
T |
A |
11: 83,405,426 (GRCm39) |
M345L |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,408,629 (GRCm39) |
F404Y |
possibly damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,147,148 (GRCm39) |
I654T |
probably damaging |
Het |
| Napg |
A |
T |
18: 63,111,091 (GRCm39) |
K18* |
probably null |
Het |
| Ndst3 |
A |
T |
3: 123,355,556 (GRCm39) |
W573R |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,077,692 (GRCm39) |
S1038G |
possibly damaging |
Het |
| Nudt12 |
T |
A |
17: 59,317,279 (GRCm39) |
R123* |
probably null |
Het |
| Oas1g |
T |
A |
5: 121,015,081 (GRCm39) |
N361Y |
probably benign |
Het |
| Or5p51 |
T |
A |
7: 107,444,377 (GRCm39) |
I188L |
probably benign |
Het |
| Or7a35 |
T |
A |
10: 78,853,191 (GRCm39) |
F12I |
possibly damaging |
Het |
| Or8h10 |
A |
T |
2: 86,808,786 (GRCm39) |
M118K |
probably damaging |
Het |
| Osbpl10 |
T |
C |
9: 115,055,828 (GRCm39) |
F667L |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,621,988 (GRCm39) |
D664G |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,160,972 (GRCm39) |
V2263M |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,858,688 (GRCm39) |
L615P |
probably damaging |
Het |
| Pnpla7 |
G |
A |
2: 24,901,661 (GRCm39) |
M562I |
probably benign |
Het |
| Pou2af2 |
A |
T |
9: 51,201,672 (GRCm39) |
L128* |
probably null |
Het |
| Ppp1r13b |
C |
A |
12: 111,811,423 (GRCm39) |
R155L |
probably damaging |
Het |
| Pygb |
C |
T |
2: 150,628,798 (GRCm39) |
P4L |
probably benign |
Het |
| Rbm44 |
T |
C |
1: 91,084,562 (GRCm39) |
|
probably null |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,356,102 (GRCm39) |
Y801C |
probably damaging |
Het |
| Rnf112 |
A |
G |
11: 61,340,273 (GRCm39) |
V619A |
probably damaging |
Het |
| Rnf182 |
A |
G |
13: 43,821,563 (GRCm39) |
E38G |
probably benign |
Het |
| Scgb2b24 |
T |
A |
7: 33,436,830 (GRCm39) |
Y94F |
probably damaging |
Het |
| Serac1 |
C |
A |
17: 6,094,188 (GRCm39) |
|
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,967,215 (GRCm39) |
T114A |
probably benign |
Het |
| Slc6a19 |
A |
T |
13: 73,832,487 (GRCm39) |
V402D |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,917,961 (GRCm39) |
H638Q |
probably benign |
Het |
| Slco2b1 |
T |
A |
7: 99,316,301 (GRCm39) |
M410L |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,753,469 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,193,067 (GRCm39) |
Y409C |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,386,555 (GRCm39) |
V161A |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,504 (GRCm39) |
V162A |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,645,501 (GRCm39) |
E2029G |
possibly damaging |
Het |
| Stx7 |
T |
A |
10: 24,058,659 (GRCm39) |
|
probably null |
Het |
| Taf4b |
T |
C |
18: 14,937,611 (GRCm39) |
V228A |
probably benign |
Het |
| Tor4a |
G |
A |
2: 25,084,847 (GRCm39) |
A352V |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 44,977,173 (GRCm39) |
F81S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,780,436 (GRCm39) |
D1105V |
probably damaging |
Het |
| Vcf1 |
T |
A |
11: 113,568,220 (GRCm39) |
R78S |
probably damaging |
Het |
| Yju2b |
T |
A |
8: 84,985,177 (GRCm39) |
D364V |
possibly damaging |
Het |
| Zfp551 |
A |
G |
7: 12,150,101 (GRCm39) |
L436P |
probably damaging |
Het |
| Zfp975 |
G |
T |
7: 42,312,312 (GRCm39) |
D100E |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,032 (GRCm39) |
I171V |
probably benign |
Het |
| Zwint |
C |
T |
10: 72,492,294 (GRCm39) |
|
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 |
|
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'- AAGCCTTGAAGCCACGGTAG -3'
(R):5'- CATGTCCATGCCATCTAAAGC -3'
Sequencing Primer
(F):5'- CGGTAGAGAAACTTCTTACCAGCG -3'
(R):5'- TGTCCATGCCATCTAAAGCTACAAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation