Incidental Mutation 'R9577:Tbc1d1'
| ID |
722348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d1
|
| Ensembl Gene |
ENSMUSG00000029174 |
| Gene Name |
TBC1 domain family, member 1 |
| Synonyms |
1110062G02Rik, Nob1, Nobq1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64473699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 741
(S741T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043893]
[ENSMUST00000101195]
[ENSMUST00000119756]
[ENSMUST00000121370]
|
| AlphaFold |
Q60949 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043893
AA Change: S834T
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: S834T
| 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 |
possibly damaging
Transcript: ENSMUST00000101195
AA Change: S741T
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: S741T
| 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 |
possibly damaging
Transcript: ENSMUST00000119756
AA Change: S612T
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: S612T
| 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 |
possibly damaging
Transcript: ENSMUST00000121370
AA Change: S741T
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: S741T
| 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: 99.7%
- 20x: 99.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
G |
T |
18: 24,608,663 (GRCm39) |
A128S |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,810,768 (GRCm39) |
Y116H |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Ankar |
C |
A |
1: 72,721,067 (GRCm39) |
V464L |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,769,060 (GRCm39) |
I1526N |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,004,996 (GRCm39) |
N1144K |
probably damaging |
Het |
| B3gntl1 |
T |
C |
11: 121,515,040 (GRCm39) |
T243A |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,809,031 (GRCm39) |
T73A |
probably benign |
Het |
| Bnip5 |
A |
T |
17: 29,128,382 (GRCm39) |
I177K |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,906,876 (GRCm39) |
S148G |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,603,335 (GRCm39) |
D332G |
probably benign |
Het |
| Card9 |
T |
A |
2: 26,242,344 (GRCm39) |
T531S |
probably damaging |
Het |
| Ccdc71 |
C |
T |
9: 108,340,472 (GRCm39) |
A95V |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,146,895 (GRCm39) |
V2787A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,752,964 (GRCm39) |
E487G |
unknown |
Het |
| Col22a1 |
T |
C |
15: 71,837,595 (GRCm39) |
K505R |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 139,018,196 (GRCm39) |
V180A |
|
Het |
| Dmxl2 |
A |
G |
9: 54,323,664 (GRCm39) |
V1066A |
unknown |
Het |
| Dnah9 |
C |
T |
11: 65,867,347 (GRCm39) |
V2744M |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,376,439 (GRCm39) |
R384L |
possibly damaging |
Het |
| Fbxo42 |
T |
A |
4: 140,907,743 (GRCm39) |
Y134* |
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,194,470 (GRCm39) |
P57S |
unknown |
Het |
| Gm6309 |
T |
C |
5: 146,105,700 (GRCm39) |
R155G |
possibly damaging |
Het |
| Gnpda1 |
T |
C |
18: 38,463,605 (GRCm39) |
T235A |
probably benign |
Het |
| Gsdmc2 |
T |
A |
15: 63,696,906 (GRCm39) |
I422F |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,502,798 (GRCm39) |
V256A |
probably benign |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Kif14 |
T |
C |
1: 136,399,138 (GRCm39) |
V433A |
probably benign |
Het |
| Kif3a |
T |
C |
11: 53,475,231 (GRCm39) |
F363S |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,467,490 (GRCm39) |
D186G |
probably damaging |
Het |
| Lmntd2 |
T |
C |
7: 140,790,990 (GRCm39) |
T448A |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,814,282 (GRCm39) |
A898V |
probably damaging |
Het |
| Mri1 |
A |
G |
8: 84,982,929 (GRCm39) |
V164A |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Nxpe2 |
G |
A |
9: 48,237,632 (GRCm39) |
R208* |
probably null |
Het |
| Or1j1 |
C |
A |
2: 36,702,567 (GRCm39) |
C179F |
probably damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,737 (GRCm39) |
V77A |
possibly damaging |
Het |
| Pcdha12 |
C |
T |
18: 37,155,126 (GRCm39) |
A615V |
probably benign |
Het |
| Pou4f3 |
C |
G |
18: 42,528,563 (GRCm39) |
P169A |
probably benign |
Het |
| Pramel52-ps |
A |
T |
5: 94,531,805 (GRCm39) |
R230* |
probably null |
Het |
| Prss36 |
T |
C |
7: 127,533,673 (GRCm39) |
I556V |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,346,067 (GRCm39) |
D209E |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,676,675 (GRCm39) |
D679E |
probably damaging |
Het |
| Ptprz1 |
G |
T |
6: 23,002,202 (GRCm39) |
D1431Y |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,658,629 (GRCm39) |
L143M |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,357,612 (GRCm39) |
Q721R |
probably benign |
Het |
| Spdye4b |
A |
G |
5: 143,182,055 (GRCm39) |
M118V |
probably damaging |
Het |
| Tbx18 |
A |
G |
9: 87,611,512 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
C |
2: 153,037,294 (GRCm39) |
F385S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,954,432 (GRCm39) |
L1133* |
probably null |
Het |
| Trpm5 |
A |
G |
7: 142,633,131 (GRCm39) |
|
probably null |
Het |
| Ube4b |
A |
G |
4: 149,468,231 (GRCm39) |
S182P |
possibly damaging |
Het |
| Ugt2b36 |
T |
C |
5: 87,228,784 (GRCm39) |
T420A |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Zc3h6 |
T |
A |
2: 128,858,102 (GRCm39) |
I711K |
|
Het |
| Zer1 |
T |
C |
2: 29,991,050 (GRCm39) |
Y726C |
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 |
|
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 |
|
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'- CGAAATCAAGGCAATTTCCTAGG -3'
(R):5'- GCAACTGGTAAAGCTCACCTTG -3'
Sequencing Primer
(F):5'- AAGGCAATTTCCTAGGCTTTTCG -3'
(R):5'- TTGCCCAACAGCTGAGTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation