Incidental Mutation 'R0321:Tbc1d1'
ID |
35855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbc1d1
|
Ensembl Gene |
ENSMUSG00000029174 |
Gene Name |
TBC1 domain family, member 1 |
Synonyms |
1110062G02Rik, Nob1, Nobq1 |
MMRRC Submission |
038531-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0321 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64496937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 864
(F864L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113643
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043893]
[ENSMUST00000101195]
[ENSMUST00000119756]
[ENSMUST00000121370]
|
AlphaFold |
Q60949 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043893
AA Change: F1086L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000044577 Gene: ENSMUSG00000029174 AA Change: F1086L
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: F993L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098756 Gene: ENSMUSG00000029174 AA Change: F993L
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: F864L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113643 Gene: ENSMUSG00000029174 AA Change: F864L
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: F993L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112493 Gene: ENSMUSG00000029174 AA Change: F993L
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 |
0.6469 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
Validation Efficiency |
100% (79/79) |
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 |
4921509C19Rik |
T |
C |
2: 151,314,620 (GRCm39) |
T353A |
probably benign |
Het |
4933402N03Rik |
T |
A |
7: 130,747,956 (GRCm39) |
Y12F |
probably benign |
Het |
Acbd3 |
T |
G |
1: 180,579,870 (GRCm39) |
F505V |
probably damaging |
Het |
Acod1 |
T |
C |
14: 103,292,565 (GRCm39) |
V363A |
probably benign |
Het |
Adam28 |
T |
C |
14: 68,855,200 (GRCm39) |
Q647R |
probably damaging |
Het |
Akr1c18 |
T |
A |
13: 4,185,243 (GRCm39) |
L296F |
probably damaging |
Het |
Ap1b1 |
G |
A |
11: 4,982,464 (GRCm39) |
A588T |
probably benign |
Het |
Armc8 |
A |
T |
9: 99,415,230 (GRCm39) |
I150K |
probably damaging |
Het |
Bahcc1 |
T |
C |
11: 120,164,251 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
C |
3: 36,960,937 (GRCm39) |
|
probably null |
Het |
Carmil3 |
C |
A |
14: 55,739,698 (GRCm39) |
D928E |
possibly damaging |
Het |
Ccrl2 |
T |
C |
9: 110,885,279 (GRCm39) |
N73S |
probably damaging |
Het |
Cdk9 |
C |
A |
2: 32,602,698 (GRCm39) |
|
probably benign |
Het |
Cel |
G |
T |
2: 28,451,160 (GRCm39) |
Q66K |
probably benign |
Het |
D930028M14Rik |
T |
A |
7: 24,854,991 (GRCm39) |
|
noncoding transcript |
Het |
Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
Dlg1 |
T |
C |
16: 31,676,854 (GRCm39) |
V801A |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,900,416 (GRCm39) |
D3834G |
probably benign |
Het |
Dnajc15 |
C |
T |
14: 78,112,273 (GRCm39) |
A23T |
possibly damaging |
Het |
Ell2 |
T |
A |
13: 75,910,007 (GRCm39) |
L119Q |
probably damaging |
Het |
Epha2 |
T |
C |
4: 141,035,716 (GRCm39) |
W51R |
probably damaging |
Het |
F10 |
T |
C |
8: 13,103,413 (GRCm39) |
F266L |
possibly damaging |
Het |
Fam110a |
T |
C |
2: 151,812,587 (GRCm39) |
N61S |
probably benign |
Het |
Fam83c |
C |
T |
2: 155,671,620 (GRCm39) |
S605N |
probably benign |
Het |
Fbxw15 |
C |
T |
9: 109,394,453 (GRCm39) |
V121I |
probably benign |
Het |
Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
Gfi1b |
A |
G |
2: 28,503,897 (GRCm39) |
F101S |
probably damaging |
Het |
Gimap5 |
C |
G |
6: 48,727,449 (GRCm39) |
|
probably benign |
Het |
Gpr180 |
T |
C |
14: 118,385,699 (GRCm39) |
|
probably null |
Het |
Gsn |
T |
C |
2: 35,180,408 (GRCm39) |
F188L |
probably benign |
Het |
Hivep3 |
T |
A |
4: 119,952,788 (GRCm39) |
I368N |
possibly damaging |
Het |
Itih3 |
T |
A |
14: 30,634,063 (GRCm39) |
I153F |
probably damaging |
Het |
Kdm8 |
A |
T |
7: 125,060,178 (GRCm39) |
Q360L |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,335,697 (GRCm39) |
K1140E |
probably damaging |
Het |
Mocs1 |
A |
G |
17: 49,740,286 (GRCm39) |
Y71C |
probably damaging |
Het |
Mroh5 |
C |
T |
15: 73,661,892 (GRCm39) |
G433E |
probably damaging |
Het |
Mrpl45 |
T |
A |
11: 97,217,764 (GRCm39) |
|
probably benign |
Het |
Mtcl1 |
T |
A |
17: 66,686,426 (GRCm39) |
T827S |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,415,972 (GRCm39) |
S2973P |
probably benign |
Het |
Mynn |
T |
C |
3: 30,661,706 (GRCm39) |
S263P |
probably benign |
Het |
Myo1f |
A |
C |
17: 33,811,986 (GRCm39) |
D595A |
probably benign |
Het |
Necab1 |
A |
T |
4: 14,960,083 (GRCm39) |
I288N |
probably damaging |
Het |
Nutm2 |
T |
G |
13: 50,626,991 (GRCm39) |
M382R |
probably damaging |
Het |
Oprm1 |
T |
C |
10: 6,779,183 (GRCm39) |
S131P |
probably damaging |
Het |
Pcsk9 |
A |
G |
4: 106,301,891 (GRCm39) |
S619P |
probably benign |
Het |
Phkg1 |
A |
T |
5: 129,898,365 (GRCm39) |
M1K |
probably null |
Het |
Pigc |
C |
T |
1: 161,798,668 (GRCm39) |
Q217* |
probably null |
Het |
Pik3r4 |
T |
A |
9: 105,525,906 (GRCm39) |
F259I |
probably damaging |
Het |
Pkdcc |
A |
T |
17: 83,529,541 (GRCm39) |
|
probably benign |
Het |
Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
Prtg |
A |
T |
9: 72,755,307 (GRCm39) |
I259F |
possibly damaging |
Het |
Prune2 |
T |
G |
19: 17,098,291 (GRCm39) |
L1265R |
possibly damaging |
Het |
Prune2 |
C |
T |
19: 17,099,818 (GRCm39) |
A1774V |
probably benign |
Het |
Rcn3 |
A |
G |
7: 44,738,139 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
C |
T |
11: 119,328,931 (GRCm39) |
Q2067* |
probably null |
Het |
Sec14l1 |
T |
A |
11: 117,041,568 (GRCm39) |
|
probably benign |
Het |
Serpinb3a |
C |
T |
1: 106,975,212 (GRCm39) |
W198* |
probably null |
Het |
Smpdl3b |
A |
T |
4: 132,468,755 (GRCm39) |
V154E |
probably damaging |
Het |
Spag17 |
T |
C |
3: 100,008,719 (GRCm39) |
S1950P |
probably damaging |
Het |
Sprr1a |
T |
C |
3: 92,391,609 (GRCm39) |
T131A |
probably benign |
Het |
Tatdn2 |
T |
G |
6: 113,686,462 (GRCm39) |
L690W |
probably damaging |
Het |
Tmem8b |
C |
A |
4: 43,674,444 (GRCm39) |
R243S |
probably damaging |
Het |
Tnfrsf11a |
T |
A |
1: 105,772,583 (GRCm39) |
C623* |
probably null |
Het |
Tprg1l |
T |
C |
4: 154,243,812 (GRCm39) |
N115D |
probably damaging |
Het |
Ube2t |
C |
T |
1: 134,895,538 (GRCm39) |
A4V |
possibly damaging |
Het |
Vps41 |
G |
A |
13: 19,026,465 (GRCm39) |
|
probably benign |
Het |
Wdr17 |
C |
T |
8: 55,149,303 (GRCm39) |
|
probably null |
Het |
Wwc1 |
G |
A |
11: 35,732,637 (GRCm39) |
Q1024* |
probably null |
Het |
Zfand5 |
T |
A |
19: 21,253,879 (GRCm39) |
N27K |
probably damaging |
Het |
Zfp142 |
A |
T |
1: 74,608,873 (GRCm39) |
C1641S |
probably damaging |
Het |
Zfyve16 |
A |
G |
13: 92,629,042 (GRCm39) |
I1465T |
probably damaging |
Het |
Zswim1 |
G |
A |
2: 164,667,947 (GRCm39) |
G400S |
probably benign |
Het |
Zswim3 |
C |
T |
2: 164,662,279 (GRCm39) |
A253V |
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 |
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 |
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'- GCTTTTCCAAGCACAGTTACTGTTGC -3'
(R):5'- AGTGTCCATACCTGACTGATGGTCTTC -3'
Sequencing Primer
(F):5'- ACAGGGGTCTGCGTTACAG -3'
(R):5'- GACTGATGGTCTTCTCCATCTG -3'
|
Posted On |
2013-05-09 |