Incidental Mutation 'R5547:Tbc1d1'
| ID |
436339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d1
|
| Ensembl Gene |
ENSMUSG00000029174 |
| Gene Name |
TBC1 domain family, member 1 |
| Synonyms |
1110062G02Rik, Nob1, Nobq1 |
| MMRRC Submission |
043105-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5547 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
64313648-64508829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64481887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 696
(D696G)
|
| 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: D918G
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000044577
Gene: ENSMUSG00000029174
AA Change: D918G
| 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: D825G
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000098756
Gene: ENSMUSG00000029174
AA Change: D825G
| 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: D696G
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113643
Gene: ENSMUSG00000029174
AA Change: D696G
| 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: D825G
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112493
Gene: ENSMUSG00000029174
AA Change: D825G
| 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: ENSMUST00000121819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140960
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
G |
18: 56,661,356 (GRCm39) |
S492P |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,231,201 (GRCm39) |
D1133E |
probably damaging |
Het |
| Avpi1 |
T |
C |
19: 42,113,382 (GRCm39) |
K25R |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,772,110 (GRCm39) |
S708G |
probably damaging |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,794 (GRCm39) |
E202G |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,837,970 (GRCm39) |
V860E |
probably benign |
Het |
| Cbr1 |
T |
A |
16: 93,406,698 (GRCm39) |
V138E |
probably damaging |
Het |
| Cdip1 |
A |
G |
16: 4,587,988 (GRCm39) |
S2P |
probably damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,428 (GRCm39) |
N702S |
probably damaging |
Het |
| Chek1 |
T |
C |
9: 36,623,400 (GRCm39) |
I381V |
probably benign |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cryz |
C |
T |
3: 154,317,194 (GRCm39) |
R138* |
probably null |
Het |
| Ctsll3 |
T |
A |
13: 60,948,551 (GRCm39) |
M103L |
probably benign |
Het |
| Daxx |
TGATGATGACGATGATGACGATGATGA |
TGATGATGACGATGATGA |
17: 34,131,615 (GRCm39) |
|
probably benign |
Het |
| Daxx |
CGATGATGATGA |
CGA |
17: 34,131,633 (GRCm39) |
|
probably benign |
Het |
| Dsg1a |
T |
G |
18: 20,469,097 (GRCm39) |
|
probably null |
Het |
| Eya4 |
T |
C |
10: 22,985,753 (GRCm39) |
E583G |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,591,948 (GRCm39) |
S505C |
probably damaging |
Het |
| Gpr161 |
C |
A |
1: 165,133,982 (GRCm39) |
F81L |
possibly damaging |
Het |
| H2-T15 |
G |
A |
17: 36,368,796 (GRCm39) |
H95Y |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,613,257 (GRCm39) |
V1390A |
possibly damaging |
Het |
| Ifi44l |
C |
T |
3: 151,467,142 (GRCm39) |
V63I |
unknown |
Het |
| Klhl3 |
C |
T |
13: 58,250,243 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
T |
A |
3: 65,576,601 (GRCm39) |
|
probably null |
Het |
| Lhx5 |
A |
G |
5: 120,572,675 (GRCm39) |
Q98R |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,879,330 (GRCm39) |
K681E |
possibly damaging |
Het |
| Numa1 |
G |
T |
7: 101,663,137 (GRCm39) |
A735S |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 143,884,598 (GRCm39) |
L446Q |
probably benign |
Het |
| Or5ac19 |
G |
A |
16: 59,089,479 (GRCm39) |
L184F |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,617,909 (GRCm39) |
E1735K |
possibly damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,729,488 (GRCm39) |
D119G |
probably benign |
Het |
| Pgpep1 |
T |
C |
8: 71,105,069 (GRCm39) |
K64E |
probably benign |
Het |
| Prr19 |
A |
C |
7: 25,003,388 (GRCm39) |
D334A |
probably damaging |
Het |
| Ptprh |
G |
T |
7: 4,557,221 (GRCm39) |
S691* |
probably null |
Het |
| Recql4 |
G |
A |
15: 76,589,994 (GRCm39) |
R684* |
probably null |
Het |
| Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
| Rnf40 |
T |
C |
7: 127,188,302 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,963,468 (GRCm39) |
V1062A |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,866,247 (GRCm39) |
R339G |
probably damaging |
Het |
| Tmem245 |
C |
T |
4: 56,910,156 (GRCm39) |
|
probably null |
Het |
| Trim24 |
A |
G |
6: 37,942,485 (GRCm39) |
E965G |
probably damaging |
Het |
| Trmt112 |
T |
C |
19: 6,888,156 (GRCm39) |
S103P |
probably damaging |
Het |
| Trpv6 |
A |
T |
6: 41,613,088 (GRCm39) |
V26D |
possibly damaging |
Het |
| Zfp850 |
A |
G |
7: 27,688,844 (GRCm39) |
C455R |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,873 (GRCm39) |
I209T |
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,451,406 (GRCm39) |
N131S |
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 |
|
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'- CCTGAATGTCTGTACACACAATG -3'
(R):5'- TTAATGACCACTCAAGGCCTCC -3'
Sequencing Primer
(F):5'- CTGTACACACAATGAATTTGCAGTC -3'
(R):5'- AAGGGAGCCCGCGTATG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation