Incidental Mutation 'IGL02993:Wdr20'
| ID |
407042 |
| 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 # |
IGL02993
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
110704378-110770672 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 110760742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 543
(E543*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095410]
[ENSMUST00000192870]
[ENSMUST00000193053]
[ENSMUST00000195886]
|
| AlphaFold |
Q3UWE6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095410
AA Change: E543*
|
| SMART Domains |
Protein: ENSMUSP00000093059
Gene: ENSMUSG00000037957
AA Change: E543*
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
C |
3: 121,567,659 (GRCm39) |
I434S |
probably benign |
Het |
| Actr2 |
C |
T |
11: 20,022,514 (GRCm39) |
R319Q |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,112,322 (GRCm39) |
Y606* |
probably null |
Het |
| Baiap3 |
C |
T |
17: 25,469,056 (GRCm39) |
|
probably null |
Het |
| Cers2 |
A |
G |
3: 95,227,396 (GRCm39) |
Y8C |
probably benign |
Het |
| Ces1g |
T |
A |
8: 94,043,707 (GRCm39) |
M411L |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,894,304 (GRCm39) |
|
probably benign |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,722 (GRCm39) |
K94N |
probably benign |
Het |
| Ddx51 |
T |
C |
5: 110,803,487 (GRCm39) |
V323A |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,346,027 (GRCm39) |
V190I |
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,576,501 (GRCm39) |
T1042A |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,011,304 (GRCm39) |
S2135T |
probably damaging |
Het |
| Gpat2 |
T |
C |
2: 127,269,486 (GRCm39) |
F46S |
probably damaging |
Het |
| Klhl38 |
T |
A |
15: 58,185,851 (GRCm39) |
K293* |
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,053,348 (GRCm39) |
I916T |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,333,965 (GRCm39) |
K964M |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,253,071 (GRCm39) |
|
probably null |
Het |
| Perm1 |
A |
G |
4: 156,302,236 (GRCm39) |
Q260R |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,279,314 (GRCm39) |
N133K |
possibly damaging |
Het |
| Scart2 |
A |
G |
7: 139,876,486 (GRCm39) |
T537A |
probably benign |
Het |
| Slfn9 |
T |
C |
11: 82,872,022 (GRCm39) |
S905G |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,971,719 (GRCm39) |
Y351H |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,344,370 (GRCm39) |
T785I |
probably damaging |
Het |
| Stk16 |
C |
A |
1: 75,189,648 (GRCm39) |
Q69K |
probably damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,446 (GRCm39) |
L491P |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tcp11 |
T |
C |
17: 28,289,490 (GRCm39) |
N194D |
probably damaging |
Het |
| Trio |
C |
A |
15: 27,830,325 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,069,850 (GRCm39) |
V297A |
possibly damaging |
Het |
| Ugt2b5 |
T |
G |
5: 87,285,091 (GRCm39) |
H282P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,727,492 (GRCm39) |
M1030T |
probably damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,965 (GRCm39) |
I293N |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,077,498 (GRCm39) |
T223S |
probably benign |
Het |
| Zbtb25 |
T |
A |
12: 76,396,191 (GRCm39) |
N344Y |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,957,898 (GRCm39) |
F790L |
probably damaging |
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 |
|
|
IGL02710:Wdr20
|
APN |
12 |
110,759,544 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation