Incidental Mutation 'R0014:Tbc1d20'
| ID |
201319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d20
|
| Ensembl Gene |
ENSMUSG00000027465 |
| Gene Name |
TBC1 domain family, member 20 |
| Synonyms |
bs, 1110028I04Rik, 2810442O16Rik |
| MMRRC Submission |
038309-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.301)
|
| Stock # |
R0014 (G1)
|
| Quality Score |
47 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152135748-152155916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 152153701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 342
(Q342L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028963]
[ENSMUST00000028964]
[ENSMUST00000109847]
[ENSMUST00000144252]
[ENSMUST00000147591]
|
| AlphaFold |
Q9D9I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028963
AA Change: Q342L
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028963
Gene: ENSMUSG00000027465
AA Change: Q342L
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
56 |
268 |
6.19e-5 |
SMART |
|
low complexity region
|
304 |
323 |
N/A |
INTRINSIC |
|
transmembrane domain
|
364 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028964
|
| SMART Domains |
Protein: ENSMUSP00000028964
Gene: ENSMUSG00000027466
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4DBG|A
|
37 |
137 |
2e-60 |
PDB |
|
Blast:UBQ
|
59 |
133 |
2e-15 |
BLAST |
|
low complexity region
|
143 |
152 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
193 |
217 |
5.25e-5 |
SMART |
|
low complexity region
|
232 |
256 |
N/A |
INTRINSIC |
|
RING
|
280 |
324 |
2.67e-5 |
SMART |
|
Pfam:IBR
|
346 |
409 |
1.5e-9 |
PFAM |
|
Pfam:IBR
|
422 |
483 |
2.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109847
|
| SMART Domains |
Protein: ENSMUSP00000105473
Gene: ENSMUSG00000027466
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4DBG|A
|
37 |
137 |
2e-60 |
PDB |
|
Blast:UBQ
|
59 |
133 |
2e-15 |
BLAST |
|
low complexity region
|
143 |
152 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
193 |
217 |
5.25e-5 |
SMART |
|
low complexity region
|
232 |
256 |
N/A |
INTRINSIC |
|
RING
|
280 |
324 |
2.67e-5 |
SMART |
|
Blast:IBR
|
427 |
507 |
1e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141373
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144252
|
| SMART Domains |
Protein: ENSMUSP00000122542
Gene: ENSMUSG00000027465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RabGAP-TBC
|
8 |
80 |
5.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147591
|
| SMART Domains |
Protein: ENSMUSP00000119209
Gene: ENSMUSG00000027465
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RabGAP-TBC
|
11 |
155 |
2e-24 |
PFAM |
|
| Meta Mutation Damage Score |
0.0785 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous mutants have bilateral cataracts, small eyes, glossy coats, and are male sterile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
| Ankrd52 |
C |
A |
10: 128,222,321 (GRCm39) |
T583K |
probably benign |
Het |
| C3ar1 |
C |
T |
6: 122,827,810 (GRCm39) |
V136M |
probably damaging |
Het |
| Capg |
A |
G |
6: 72,538,026 (GRCm39) |
E304G |
possibly damaging |
Het |
| Ccdc125 |
A |
C |
13: 100,820,846 (GRCm39) |
N189T |
possibly damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,658 (GRCm39) |
F87S |
probably damaging |
Het |
| Cd2ap |
T |
C |
17: 43,118,819 (GRCm39) |
S540G |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 123,299,305 (GRCm39) |
T529M |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 170,953,353 (GRCm39) |
D49G |
possibly damaging |
Het |
| Cngb3 |
T |
C |
4: 19,396,685 (GRCm39) |
I346T |
probably benign |
Het |
| Degs1l |
T |
C |
1: 180,882,696 (GRCm39) |
F153L |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,809,603 (GRCm39) |
D97G |
probably damaging |
Het |
| Dgkg |
A |
T |
16: 22,384,114 (GRCm39) |
|
probably null |
Het |
| Dmbx1 |
G |
T |
4: 115,775,221 (GRCm39) |
T358K |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,787,178 (GRCm39) |
|
probably null |
Het |
| Epc2 |
A |
T |
2: 49,412,537 (GRCm39) |
K172* |
probably null |
Het |
| F2rl2 |
A |
T |
13: 95,837,417 (GRCm39) |
N154I |
probably damaging |
Het |
| Fyttd1 |
G |
A |
16: 32,725,924 (GRCm39) |
R175Q |
probably damaging |
Het |
| Gbp5 |
T |
A |
3: 142,212,496 (GRCm39) |
C395S |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,291,642 (GRCm39) |
N716D |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,882,304 (GRCm39) |
L163P |
probably damaging |
Het |
| Hmox2 |
T |
A |
16: 4,582,897 (GRCm39) |
L210Q |
probably damaging |
Het |
| Klhl28 |
T |
C |
12: 65,004,076 (GRCm39) |
T146A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,686,248 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
T |
A |
9: 57,046,985 (GRCm39) |
M580K |
probably benign |
Het |
| Neb |
G |
A |
2: 52,177,168 (GRCm39) |
A1391V |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,219,666 (GRCm39) |
S563P |
probably damaging |
Het |
| Or2at4 |
T |
C |
7: 99,385,256 (GRCm39) |
V302A |
probably damaging |
Het |
| Or4k51 |
A |
G |
2: 111,585,119 (GRCm39) |
D175G |
probably damaging |
Het |
| Or55b3 |
A |
G |
7: 102,126,684 (GRCm39) |
I131T |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,057,888 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,465 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,676,141 (GRCm39) |
|
probably benign |
Het |
| Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
| Psma8 |
A |
G |
18: 14,859,587 (GRCm39) |
I86V |
possibly damaging |
Het |
| Ptpdc1 |
G |
T |
13: 48,740,395 (GRCm39) |
Y345* |
probably null |
Het |
| Rcbtb1 |
G |
T |
14: 59,472,691 (GRCm39) |
K493N |
probably benign |
Het |
| Rexo2 |
A |
T |
9: 48,385,747 (GRCm39) |
S126T |
probably benign |
Het |
| Rorc |
T |
A |
3: 94,284,920 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,364,065 (GRCm39) |
L426P |
probably damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,868 (GRCm39) |
T100A |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,943,831 (GRCm39) |
T150A |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,897,970 (GRCm39) |
H317R |
probably damaging |
Het |
| Tut1 |
T |
A |
19: 8,939,811 (GRCm39) |
L265Q |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,829,130 (GRCm39) |
F1029L |
possibly damaging |
Het |
| Wdr7 |
A |
G |
18: 64,037,172 (GRCm39) |
T1199A |
probably benign |
Het |
| Zfp458 |
A |
G |
13: 67,406,154 (GRCm39) |
V95A |
possibly damaging |
Het |
| Zscan18 |
A |
T |
7: 12,503,344 (GRCm39) |
F738L |
possibly damaging |
Het |
|
| Other mutations in Tbc1d20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02055:Tbc1d20
|
APN |
2 |
152,149,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03111:Tbc1d20
|
APN |
2 |
152,149,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Tbc1d20
|
UTSW |
2 |
152,153,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3683:Tbc1d20
|
UTSW |
2 |
152,153,737 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4352:Tbc1d20
|
UTSW |
2 |
152,150,114 (GRCm39) |
intron |
probably benign |
|
|
R4815:Tbc1d20
|
UTSW |
2 |
152,153,909 (GRCm39) |
unclassified |
probably benign |
|
|
R4908:Tbc1d20
|
UTSW |
2 |
152,144,228 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5010:Tbc1d20
|
UTSW |
2 |
152,135,856 (GRCm39) |
unclassified |
probably benign |
|
|
R5635:Tbc1d20
|
UTSW |
2 |
152,153,381 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5800:Tbc1d20
|
UTSW |
2 |
152,150,245 (GRCm39) |
splice site |
probably null |
|
|
R5832:Tbc1d20
|
UTSW |
2 |
152,153,282 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7193:Tbc1d20
|
UTSW |
2 |
152,153,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7346:Tbc1d20
|
UTSW |
2 |
152,146,881 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7705:Tbc1d20
|
UTSW |
2 |
152,150,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9289:Tbc1d20
|
UTSW |
2 |
152,153,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d20
|
UTSW |
2 |
152,150,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d20
|
UTSW |
2 |
152,149,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGTTGGAAATCAGACCATCCC -3'
(R):5'- CTTTCATCCCAAGGCTGGACCATC -3'
Sequencing Primer
(F):5'- ATCCCTGGAGTCTACTTGTCTAGAG -3'
(R):5'- GGCCCAACTTTTTAGGCAG -3'
|
| Posted On |
2014-06-02 |
Incidental Mutation