Incidental Mutation 'IGL00552:Wdr20'
| ID |
14834 |
| 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 # |
IGL00552
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
110704378-110770672 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 110745883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 75
(K75*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095410]
[ENSMUST00000192870]
[ENSMUST00000193053]
[ENSMUST00000195886]
|
| AlphaFold |
Q3UWE6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095410
AA Change: K135*
|
| SMART Domains |
Protein: ENSMUSP00000093059
Gene: ENSMUSG00000037957
AA Change: K135*
| 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 null
Transcript: ENSMUST00000192870
AA Change: K135*
|
| SMART Domains |
Protein: ENSMUSP00000141887
Gene: ENSMUSG00000037957
AA Change: K135*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
89 |
131 |
1e-16 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193053
AA Change: K135*
|
| SMART Domains |
Protein: ENSMUSP00000141678
Gene: ENSMUSG00000037957
AA Change: K135*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
89 |
131 |
2e-16 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195886
AA Change: K75*
|
| SMART Domains |
Protein: ENSMUSP00000142157
Gene: ENSMUSG00000037957
AA Change: K75*
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camta1 |
A |
T |
4: 151,155,881 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
A |
T |
9: 108,718,462 (GRCm39) |
N2338Y |
possibly damaging |
Het |
| Dnm3 |
A |
G |
1: 161,839,495 (GRCm39) |
V683A |
probably damaging |
Het |
| Gm11565 |
T |
C |
11: 99,805,902 (GRCm39) |
L98P |
probably damaging |
Het |
| Il21r |
A |
T |
7: 125,231,697 (GRCm39) |
D375V |
probably damaging |
Het |
| Oxct2b |
A |
G |
4: 123,011,301 (GRCm39) |
D407G |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,755,083 (GRCm39) |
Y55H |
probably damaging |
Het |
| Rftn1 |
A |
T |
17: 50,362,405 (GRCm39) |
V231E |
probably benign |
Het |
| Serpini1 |
C |
T |
3: 75,548,002 (GRCm39) |
R393* |
probably null |
Het |
| Sumo3 |
T |
A |
10: 77,449,860 (GRCm39) |
I66N |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,705,888 (GRCm39) |
H1525R |
possibly damaging |
Het |
| Washc2 |
A |
G |
6: 116,233,785 (GRCm39) |
N937S |
possibly damaging |
Het |
| Zscan20 |
G |
T |
4: 128,480,428 (GRCm39) |
Q688K |
probably damaging |
Het |
|
| Other mutations in Wdr20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01663:Wdr20
|
APN |
12 |
110,759,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Wdr20
|
APN |
12 |
110,759,657 (GRCm39) |
missense |
probably benign |
|
|
IGL02710:Wdr20
|
APN |
12 |
110,759,544 (GRCm39) |
splice site |
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 |
2012-12-06 |
Incidental Mutation