Incidental Mutation 'IGL00488:Wdr20rt'
| ID |
5986 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr20rt
|
| Ensembl Gene |
ENSMUSG00000035560 |
| Gene Name |
WD repeat domain 20, retrogene |
| Synonyms |
4921538B03Rik, Wdr20b, 4930427E19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.461)
|
| Stock # |
IGL00488
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
65272291-65275228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65272744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 69
(V69A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046331]
[ENSMUST00000221658]
[ENSMUST00000221980]
[ENSMUST00000222822]
|
| AlphaFold |
Q9D5R2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046331
AA Change: V69A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036682
Gene: ENSMUSG00000035560
AA Change: V69A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
140 |
178 |
1.33e1 |
SMART |
|
WD40
|
205 |
246 |
1.38e-2 |
SMART |
|
WD40
|
249 |
288 |
1.57e-6 |
SMART |
|
WD40
|
291 |
380 |
8.29e-1 |
SMART |
|
low complexity region
|
465 |
478 |
N/A |
INTRINSIC |
|
Blast:WD40
|
480 |
557 |
1e-29 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221658
AA Change: V69A
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221980
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222822
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
A |
3: 151,248,478 (GRCm39) |
S717T |
probably damaging |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,839,469 (GRCm39) |
D585G |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,063,190 (GRCm39) |
N2637K |
possibly damaging |
Het |
| Erg |
C |
A |
16: 95,170,848 (GRCm39) |
|
probably benign |
Het |
| Mak |
C |
T |
13: 41,209,165 (GRCm39) |
|
probably benign |
Het |
| Max |
T |
C |
12: 76,985,404 (GRCm39) |
S132G |
probably damaging |
Het |
| Nfam1 |
T |
C |
15: 82,907,185 (GRCm39) |
Y4C |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,721,771 (GRCm39) |
D360E |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,593,711 (GRCm39) |
|
probably null |
Het |
| Ptpn18 |
G |
A |
1: 34,502,200 (GRCm39) |
R72K |
probably damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,391 (GRCm39) |
I463V |
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,999,332 (GRCm39) |
E480G |
possibly damaging |
Het |
| Rictor |
T |
A |
15: 6,816,071 (GRCm39) |
D1114E |
probably damaging |
Het |
| Sestd1 |
A |
G |
2: 77,042,796 (GRCm39) |
S253P |
possibly damaging |
Het |
| Slk |
C |
T |
19: 47,608,148 (GRCm39) |
T367I |
probably benign |
Het |
| Tasl |
T |
A |
X: 84,931,985 (GRCm39) |
Y184N |
possibly damaging |
Het |
| Tcirg1 |
T |
G |
19: 3,949,108 (GRCm39) |
I394L |
possibly damaging |
Het |
| Ubn1 |
T |
C |
16: 4,899,778 (GRCm39) |
S1097P |
probably benign |
Het |
| Ugt2b34 |
T |
A |
5: 87,040,818 (GRCm39) |
H368L |
probably damaging |
Het |
| Wnt16 |
T |
C |
6: 22,291,012 (GRCm39) |
S147P |
probably damaging |
Het |
|
| Other mutations in Wdr20rt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02142:Wdr20rt
|
APN |
12 |
65,274,039 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02938:Wdr20rt
|
APN |
12 |
65,272,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0501:Wdr20rt
|
UTSW |
12 |
65,272,581 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0548:Wdr20rt
|
UTSW |
12 |
65,274,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0652:Wdr20rt
|
UTSW |
12 |
65,272,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1715:Wdr20rt
|
UTSW |
12 |
65,274,088 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1733:Wdr20rt
|
UTSW |
12 |
65,274,055 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1851:Wdr20rt
|
UTSW |
12 |
65,273,925 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2010:Wdr20rt
|
UTSW |
12 |
65,273,988 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2214:Wdr20rt
|
UTSW |
12 |
65,274,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2254:Wdr20rt
|
UTSW |
12 |
65,273,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Wdr20rt
|
UTSW |
12 |
65,273,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5169:Wdr20rt
|
UTSW |
12 |
65,274,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6238:Wdr20rt
|
UTSW |
12 |
65,272,964 (GRCm39) |
start gained |
probably benign |
|
|
R7018:Wdr20rt
|
UTSW |
12 |
65,272,536 (GRCm39) |
splice site |
probably null |
|
|
R7143:Wdr20rt
|
UTSW |
12 |
65,272,692 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7707:Wdr20rt
|
UTSW |
12 |
65,272,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8436:Wdr20rt
|
UTSW |
12 |
65,273,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8473:Wdr20rt
|
UTSW |
12 |
65,273,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8556:Wdr20rt
|
UTSW |
12 |
65,273,739 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9071:Wdr20rt
|
UTSW |
12 |
65,274,222 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9159:Wdr20rt
|
UTSW |
12 |
65,272,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9513:Wdr20rt
|
UTSW |
12 |
65,272,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Wdr20rt
|
UTSW |
12 |
65,273,707 (GRCm39) |
missense |
probably benign |
|
|
R9659:Wdr20rt
|
UTSW |
12 |
65,273,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation