Incidental Mutation 'R4026:Wdr20'
ID |
312998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr20
|
Ensembl Gene |
ENSMUSG00000037957 |
Gene Name |
WD repeat domain 20 |
Synonyms |
Wdr20a, 2310040A13Rik |
MMRRC Submission |
040849-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.916)
|
Stock # |
R4026 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
110704378-110770672 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110759950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 279
(T279A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093059
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095410]
[ENSMUST00000192870]
[ENSMUST00000193053]
[ENSMUST00000195886]
|
AlphaFold |
Q3UWE6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095410
AA Change: T279A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000093059 Gene: ENSMUSG00000037957 AA Change: T279A
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 |
|
Meta Mutation Damage Score |
0.1728 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
Validation Efficiency |
97% (36/37) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
Ahnak |
G |
T |
19: 8,988,663 (GRCm39) |
V3316F |
probably damaging |
Het |
Cacna1a |
C |
T |
8: 85,307,962 (GRCm39) |
T1409I |
probably damaging |
Het |
Ccdc158 |
A |
G |
5: 92,791,666 (GRCm39) |
M698T |
probably benign |
Het |
Ces2g |
T |
A |
8: 105,691,377 (GRCm39) |
V171E |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
Dspp |
G |
A |
5: 104,325,563 (GRCm39) |
S642N |
unknown |
Het |
Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
Gm10754 |
A |
G |
10: 97,517,978 (GRCm39) |
|
probably benign |
Het |
Gm5581 |
G |
A |
6: 131,144,031 (GRCm39) |
|
noncoding transcript |
Het |
Gm7929 |
T |
C |
14: 41,472,509 (GRCm39) |
K21E |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,598,120 (GRCm39) |
D1727E |
probably benign |
Het |
Lrriq4 |
T |
C |
3: 30,704,422 (GRCm39) |
V150A |
possibly damaging |
Het |
Micu3 |
A |
G |
8: 40,812,496 (GRCm39) |
|
probably benign |
Het |
Mrpl3 |
T |
C |
9: 104,948,685 (GRCm39) |
|
probably null |
Het |
Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
Ncam1 |
T |
C |
9: 49,476,295 (GRCm39) |
I265V |
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,598,720 (GRCm39) |
T68A |
probably benign |
Het |
Oprk1 |
T |
C |
1: 5,668,908 (GRCm39) |
V118A |
probably benign |
Het |
Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
Srsf6 |
T |
A |
2: 162,776,211 (GRCm39) |
|
probably benign |
Het |
Tas2r105 |
A |
G |
6: 131,663,789 (GRCm39) |
V213A |
probably benign |
Het |
Tlr12 |
C |
T |
4: 128,510,301 (GRCm39) |
E650K |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trav4-2 |
T |
A |
14: 53,656,287 (GRCm39) |
D96E |
possibly damaging |
Het |
Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
Vmn2r6 |
A |
T |
3: 64,445,671 (GRCm39) |
S685T |
possibly damaging |
Het |
Vmn2r89 |
T |
C |
14: 51,689,500 (GRCm39) |
M1T |
probably null |
Het |
Zfp407 |
A |
G |
18: 84,577,721 (GRCm39) |
S1131P |
possibly damaging |
Het |
Zfyve1 |
A |
G |
12: 83,641,296 (GRCm39) |
V120A |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAACCCTCTCCTTAAGTGGACG -3'
(R):5'- GCTCGATCTCTGCCAAAATGAAG -3'
Sequencing Primer
(F):5'- CTCCTTAAGTGGACGGTGGGC -3'
(R):5'- AGAAGGTCCTGGAAGTCCTC -3'
|
Posted On |
2015-04-30 |