Incidental Mutation 'IGL02710:Wdr20'
| ID |
304546 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr20
|
| Ensembl Gene |
ENSMUSG00000037957 |
| Gene Name |
WD repeat domain 20 |
| Synonyms |
Wdr20a, 2310040A13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
IGL02710
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
110704378-110770672 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 110759544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095410]
[ENSMUST00000192870]
[ENSMUST00000193053]
[ENSMUST00000195886]
|
| AlphaFold |
Q3UWE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095410
|
| SMART Domains |
Protein: ENSMUSP00000093059
Gene: ENSMUSG00000037957
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
140 |
178 |
2.66e0 |
SMART |
|
WD40
|
209 |
248 |
4.95e-4 |
SMART |
|
WD40
|
251 |
290 |
1.47e-6 |
SMART |
|
WD40
|
293 |
382 |
8.59e-1 |
SMART |
|
Blast:WD40
|
464 |
559 |
2e-36 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192870
|
| SMART Domains |
Protein: ENSMUSP00000141887
Gene: ENSMUSG00000037957
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
89 |
131 |
1e-16 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193053
|
| SMART Domains |
Protein: ENSMUSP00000141678
Gene: ENSMUSG00000037957
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
89 |
131 |
2e-16 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194118
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195886
|
| SMART Domains |
Protein: ENSMUSP00000142157
Gene: ENSMUSG00000037957
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
29 |
71 |
1e-16 |
BLAST |
|
| 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 WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,373,928 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
G |
A |
10: 76,949,146 (GRCm39) |
A122V |
possibly damaging |
Het |
| Dnai3 |
A |
T |
3: 145,753,903 (GRCm39) |
I719N |
possibly damaging |
Het |
| Dtnb |
T |
A |
12: 3,698,380 (GRCm39) |
H289Q |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,944,744 (GRCm39) |
K1212N |
probably damaging |
Het |
| Gm10392 |
T |
C |
11: 77,409,294 (GRCm39) |
H44R |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,787,562 (GRCm39) |
A1740T |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Knl1 |
A |
C |
2: 118,901,411 (GRCm39) |
E1037D |
probably damaging |
Het |
| Lsg1 |
A |
T |
16: 30,390,292 (GRCm39) |
D274E |
probably benign |
Het |
| Msantd3 |
A |
G |
4: 48,552,686 (GRCm39) |
K92E |
probably damaging |
Het |
| Nap1l4 |
G |
A |
7: 143,077,998 (GRCm39) |
T312I |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,456,802 (GRCm39) |
E988G |
probably damaging |
Het |
| Or11g2 |
C |
T |
14: 50,856,255 (GRCm39) |
T192I |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,754,941 (GRCm39) |
T151I |
possibly damaging |
Het |
| Pde1b |
T |
C |
15: 103,430,484 (GRCm39) |
W144R |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,207,730 (GRCm39) |
L1427P |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,804,496 (GRCm39) |
H456L |
possibly damaging |
Het |
| Sec16a |
C |
T |
2: 26,320,142 (GRCm39) |
G1432D |
possibly damaging |
Het |
| Shc1 |
A |
G |
3: 89,331,917 (GRCm39) |
|
probably null |
Het |
| Skint5 |
T |
A |
4: 113,335,156 (GRCm39) |
I1452F |
unknown |
Het |
| Slc35b4 |
C |
A |
6: 34,135,476 (GRCm39) |
V279L |
probably benign |
Het |
| Snx9 |
T |
C |
17: 5,958,873 (GRCm39) |
V283A |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,882,728 (GRCm39) |
F480L |
possibly damaging |
Het |
| Stt3a |
A |
G |
9: 36,670,041 (GRCm39) |
Y132H |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,125,649 (GRCm39) |
I363F |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,398,820 (GRCm39) |
T642I |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,584,897 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,132 (GRCm39) |
N845D |
probably benign |
Het |
| Zfp518b |
A |
G |
5: 38,830,061 (GRCm39) |
V648A |
probably damaging |
Het |
| Zfp687 |
A |
T |
3: 94,916,084 (GRCm39) |
S927T |
probably benign |
Het |
|
| Other mutations in Wdr20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00552:Wdr20
|
APN |
12 |
110,745,883 (GRCm39) |
nonsense |
probably null |
|
|
IGL01663:Wdr20
|
APN |
12 |
110,759,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Wdr20
|
APN |
12 |
110,759,657 (GRCm39) |
missense |
probably benign |
|
|
IGL02993:Wdr20
|
APN |
12 |
110,760,742 (GRCm39) |
nonsense |
probably null |
|
|
R1500:Wdr20
|
UTSW |
12 |
110,760,464 (GRCm39) |
missense |
probably benign |
|
|
R1897:Wdr20
|
UTSW |
12 |
110,760,157 (GRCm39) |
missense |
probably benign |
|
|
R2006:Wdr20
|
UTSW |
12 |
110,760,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3615:Wdr20
|
UTSW |
12 |
110,760,373 (GRCm39) |
missense |
probably benign |
|
|
R3616:Wdr20
|
UTSW |
12 |
110,760,373 (GRCm39) |
missense |
probably benign |
|
|
R4023:Wdr20
|
UTSW |
12 |
110,759,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4026:Wdr20
|
UTSW |
12 |
110,759,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4157:Wdr20
|
UTSW |
12 |
110,704,608 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4868:Wdr20
|
UTSW |
12 |
110,704,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6126:Wdr20
|
UTSW |
12 |
110,760,536 (GRCm39) |
missense |
probably benign |
|
|
R6282:Wdr20
|
UTSW |
12 |
110,763,443 (GRCm39) |
unclassified |
probably benign |
|
|
R6867:Wdr20
|
UTSW |
12 |
110,760,133 (GRCm39) |
missense |
probably benign |
|
|
R7081:Wdr20
|
UTSW |
12 |
110,769,884 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7842:Wdr20
|
UTSW |
12 |
110,704,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8045:Wdr20
|
UTSW |
12 |
110,759,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8244:Wdr20
|
UTSW |
12 |
110,760,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9127:Wdr20
|
UTSW |
12 |
110,759,597 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9561:Wdr20
|
UTSW |
12 |
110,760,187 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation