Incidental Mutation 'IGL02055:Tbc1d20'
| ID |
185207 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d20
|
| Ensembl Gene |
ENSMUSG00000027465 |
| Gene Name |
TBC1 domain family, member 20 |
| Synonyms |
bs, 1110028I04Rik, 2810442O16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.301)
|
| Stock # |
IGL02055
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
152135748-152155916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 152149978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 73
(R73H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028963]
[ENSMUST00000144252]
[ENSMUST00000147591]
|
| AlphaFold |
Q9D9I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028963
AA Change: R135H
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028963
Gene: ENSMUSG00000027465
AA Change: R135H
| 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 |
noncoding transcript
Transcript: ENSMUST00000140482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141373
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144252
AA Change: R73H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122542
Gene: ENSMUSG00000027465
AA Change: R73H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RabGAP-TBC
|
8 |
80 |
5.3e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147591
AA Change: R84H
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119209
Gene: ENSMUSG00000027465
AA Change: R84H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RabGAP-TBC
|
11 |
155 |
2e-24 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1b1 |
T |
A |
11: 4,974,452 (GRCm39) |
C353* |
probably null |
Het |
| Asl |
C |
T |
5: 130,041,891 (GRCm39) |
G309R |
possibly damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,650,731 (GRCm39) |
F835S |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,539 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,719,447 (GRCm39) |
P116T |
possibly damaging |
Het |
| Clcn1 |
T |
G |
6: 42,284,489 (GRCm39) |
M609R |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,119,015 (GRCm39) |
I1858T |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,353,385 (GRCm39) |
I95V |
probably damaging |
Het |
| Galk2 |
A |
G |
2: 125,773,324 (GRCm39) |
K252R |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,337,991 (GRCm39) |
N369I |
probably benign |
Het |
| Glis2 |
G |
T |
16: 4,431,972 (GRCm39) |
|
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,088,562 (GRCm39) |
V388A |
possibly damaging |
Het |
| Klhl1 |
A |
G |
14: 96,517,539 (GRCm39) |
F379S |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,896,930 (GRCm39) |
I248F |
possibly damaging |
Het |
| Pigm |
C |
T |
1: 172,204,732 (GRCm39) |
S156L |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,277,703 (GRCm39) |
|
probably null |
Het |
| Ppp6r3 |
A |
G |
19: 3,571,781 (GRCm39) |
F123L |
probably benign |
Het |
| Pum1 |
C |
A |
4: 130,481,365 (GRCm39) |
S637R |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,422,745 (GRCm39) |
S112P |
probably damaging |
Het |
| Serpina3k |
A |
T |
12: 104,307,295 (GRCm39) |
K176* |
probably null |
Het |
| Smad4 |
A |
G |
18: 73,774,999 (GRCm39) |
|
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 40,468,493 (GRCm39) |
F108I |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,817,673 (GRCm39) |
|
probably null |
Het |
| Tmem86b |
A |
C |
7: 4,631,762 (GRCm39) |
|
probably benign |
Het |
| Trav6-4 |
G |
A |
14: 53,692,237 (GRCm39) |
V115I |
probably benign |
Het |
| Trim37 |
T |
G |
11: 87,057,475 (GRCm39) |
V303G |
probably benign |
Het |
| Trpc7 |
C |
T |
13: 57,035,357 (GRCm39) |
R192Q |
probably benign |
Het |
| Ush1g |
T |
C |
11: 115,208,925 (GRCm39) |
D423G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,113,048 (GRCm39) |
D252V |
possibly damaging |
Het |
| Vmn1r181 |
T |
G |
7: 23,683,978 (GRCm39) |
L148V |
probably damaging |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,571 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,450,763 (GRCm39) |
H216Q |
probably benign |
Het |
| Zfp39 |
A |
G |
11: 58,782,156 (GRCm39) |
V202A |
probably benign |
Het |
|
| Other mutations in Tbc1d20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03111:Tbc1d20
|
APN |
2 |
152,149,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Tbc1d20
|
UTSW |
2 |
152,153,701 (GRCm39) |
missense |
probably benign |
0.34 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation