Incidental Mutation 'IGL00769:Wdr53'
| ID |
14841 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr53
|
| Ensembl Gene |
ENSMUSG00000022787 |
| Gene Name |
WD repeat domain 53 |
| Synonyms |
1500002B03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL00769
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32066047-32075901 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 32075315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 173
(W173*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023474]
[ENSMUST00000135289]
[ENSMUST00000141820]
[ENSMUST00000178573]
|
| AlphaFold |
Q9DB94 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023474
AA Change: W173*
|
| SMART Domains |
Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: W173*
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
37 |
1.14e2 |
SMART |
|
WD40
|
83 |
122 |
9.94e-1 |
SMART |
|
WD40
|
125 |
165 |
3.09e-5 |
SMART |
|
WD40
|
188 |
225 |
1.65e1 |
SMART |
|
WD40
|
228 |
269 |
1.86e-8 |
SMART |
|
Blast:WD40
|
314 |
354 |
4e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135289
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000141820
AA Change: W173*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000178573
AA Change: W173*
|
| SMART Domains |
Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: W173*
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
37 |
1.14e2 |
SMART |
|
WD40
|
83 |
122 |
9.94e-1 |
SMART |
|
WD40
|
125 |
165 |
3.09e-5 |
SMART |
|
WD40
|
188 |
225 |
1.65e1 |
SMART |
|
WD40
|
228 |
269 |
1.86e-8 |
SMART |
|
Blast:WD40
|
314 |
354 |
4e-11 |
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 protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,039 (GRCm39) |
V516A |
possibly damaging |
Het |
| Ambp |
G |
A |
4: 63,062,402 (GRCm39) |
T279I |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,465,322 (GRCm39) |
V285A |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,536,352 (GRCm39) |
S220P |
probably benign |
Het |
| Atp9b |
G |
T |
18: 80,956,068 (GRCm39) |
H129N |
probably benign |
Het |
| Cdh10 |
C |
A |
15: 18,985,185 (GRCm39) |
P283Q |
possibly damaging |
Het |
| Cep295 |
A |
G |
9: 15,237,440 (GRCm39) |
S1941P |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,684,230 (GRCm39) |
S575R |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,267,715 (GRCm39) |
N796S |
possibly damaging |
Het |
| Enam |
A |
T |
5: 88,649,343 (GRCm39) |
Y284F |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,377,786 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
C |
T |
4: 140,907,760 (GRCm39) |
T140M |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,770,116 (GRCm39) |
E303K |
probably benign |
Het |
| Minar2 |
T |
C |
18: 59,205,349 (GRCm39) |
S88P |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
| Msl3 |
T |
A |
X: 167,451,744 (GRCm39) |
E215V |
probably damaging |
Het |
| Pglyrp3 |
A |
T |
3: 91,921,929 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
G |
A |
4: 116,550,162 (GRCm39) |
D115N |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,361,331 (GRCm39) |
|
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,325,100 (GRCm39) |
D602G |
probably damaging |
Het |
| Slc4a1ap |
T |
G |
5: 31,711,121 (GRCm39) |
Y742D |
probably damaging |
Het |
| Spmap1 |
A |
G |
11: 97,662,407 (GRCm39) |
F155S |
probably damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,772 (GRCm39) |
P193S |
probably damaging |
Het |
| Vmn2r96 |
G |
A |
17: 18,804,081 (GRCm39) |
V252M |
probably benign |
Het |
|
| Other mutations in Wdr53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01399:Wdr53
|
APN |
16 |
32,070,718 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0041:Wdr53
|
UTSW |
16 |
32,075,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0582:Wdr53
|
UTSW |
16 |
32,070,726 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1750:Wdr53
|
UTSW |
16 |
32,070,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Wdr53
|
UTSW |
16 |
32,075,316 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2428:Wdr53
|
UTSW |
16 |
32,071,008 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3726:Wdr53
|
UTSW |
16 |
32,075,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4495:Wdr53
|
UTSW |
16 |
32,070,969 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4883:Wdr53
|
UTSW |
16 |
32,075,796 (GRCm39) |
nonsense |
probably null |
|
|
R4884:Wdr53
|
UTSW |
16 |
32,075,796 (GRCm39) |
nonsense |
probably null |
|
|
R4905:Wdr53
|
UTSW |
16 |
32,075,476 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6031:Wdr53
|
UTSW |
16 |
32,075,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Wdr53
|
UTSW |
16 |
32,075,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6222:Wdr53
|
UTSW |
16 |
32,075,482 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8903:Wdr53
|
UTSW |
16 |
32,071,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Wdr53
|
UTSW |
16 |
32,075,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9013:Wdr53
|
UTSW |
16 |
32,075,413 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9587:Wdr53
|
UTSW |
16 |
32,075,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Wdr53
|
UTSW |
16 |
32,071,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation