Incidental Mutation 'R0582:Wdr53'
| ID |
56486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr53
|
| Ensembl Gene |
ENSMUSG00000022787 |
| Gene Name |
WD repeat domain 53 |
| Synonyms |
1500002B03Rik |
| MMRRC Submission |
038772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R0582 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32066047-32075901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32070726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 24
(V24M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023474]
[ENSMUST00000042732]
[ENSMUST00000135289]
[ENSMUST00000141820]
[ENSMUST00000178573]
|
| AlphaFold |
Q9DB94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023474
AA Change: V24M
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: V24M
| 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: ENSMUST00000042732
|
| SMART Domains |
Protein: ENSMUSP00000040168
Gene: ENSMUSG00000035764
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
37 |
N/A |
INTRINSIC |
|
FBOX
|
39 |
82 |
4e-4 |
SMART |
|
SPRY
|
152 |
284 |
1.87e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135289
AA Change: V24M
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141820
AA Change: V24M
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178573
AA Change: V24M
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: V24M
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.6%
|
| Validation Efficiency |
100% (45/45) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,904,147 (GRCm39) |
M186K |
probably benign |
Het |
| Afm |
T |
C |
5: 90,672,639 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
G |
A |
10: 18,487,038 (GRCm39) |
A1332V |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,881,214 (GRCm39) |
S451P |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,950,332 (GRCm39) |
V3189E |
probably damaging |
Het |
| Ccdc150 |
C |
T |
1: 54,368,670 (GRCm39) |
A626V |
probably benign |
Het |
| Ccdc50 |
G |
A |
16: 27,263,409 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
C |
4: 84,802,978 (GRCm39) |
S93P |
probably damaging |
Het |
| Ctnna2 |
C |
A |
6: 77,735,400 (GRCm39) |
V106L |
probably benign |
Het |
| Ctnnal1 |
G |
C |
4: 56,813,228 (GRCm39) |
Q668E |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,587,529 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,937,935 (GRCm39) |
D1604G |
probably benign |
Het |
| Dscaml1 |
A |
T |
9: 45,579,562 (GRCm39) |
I370F |
possibly damaging |
Het |
| Duxf4 |
A |
T |
10: 58,071,508 (GRCm39) |
S235R |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,654,881 (GRCm39) |
E129G |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,188 (GRCm39) |
I2162V |
probably benign |
Het |
| Ints9 |
C |
T |
14: 65,217,598 (GRCm39) |
P42S |
probably damaging |
Het |
| Ipp |
T |
C |
4: 116,372,664 (GRCm39) |
L231S |
probably damaging |
Het |
| Lyn |
T |
A |
4: 3,743,296 (GRCm39) |
L72Q |
probably damaging |
Het |
| Nfe2l2 |
T |
A |
2: 75,507,112 (GRCm39) |
E329D |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or52a24 |
G |
A |
7: 103,381,880 (GRCm39) |
C249Y |
possibly damaging |
Het |
| Pdyn |
A |
C |
2: 129,531,658 (GRCm39) |
L44R |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,881,699 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,035,704 (GRCm39) |
F695L |
probably damaging |
Het |
| Rnf217 |
A |
G |
10: 31,484,763 (GRCm39) |
Y140H |
possibly damaging |
Het |
| Sema6c |
C |
T |
3: 95,076,508 (GRCm39) |
R265C |
probably damaging |
Het |
| Slc7a8 |
C |
A |
14: 54,995,901 (GRCm39) |
C167F |
probably damaging |
Het |
| Snap47 |
A |
T |
11: 59,319,259 (GRCm39) |
L293* |
probably null |
Het |
| Snx3 |
A |
T |
10: 42,409,276 (GRCm39) |
|
probably benign |
Het |
| Sycp2l |
T |
A |
13: 41,291,431 (GRCm39) |
|
probably benign |
Het |
| Taar3 |
A |
G |
10: 23,825,715 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tm4sf4 |
T |
C |
3: 57,341,278 (GRCm39) |
|
probably benign |
Het |
| Tssc4 |
T |
C |
7: 142,624,246 (GRCm39) |
S185P |
probably damaging |
Het |
| Ttc28 |
G |
T |
5: 111,331,162 (GRCm39) |
A430S |
probably damaging |
Het |
| Ulbp3 |
G |
A |
10: 3,075,082 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
T |
C |
6: 124,201,249 (GRCm39) |
D236G |
probably benign |
Het |
| Vps54 |
G |
T |
11: 21,250,137 (GRCm39) |
D508Y |
probably damaging |
Het |
| Xirp2 |
T |
G |
2: 67,339,210 (GRCm39) |
L484V |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,292,996 (GRCm39) |
D2051G |
probably damaging |
Het |
|
| Other mutations in Wdr53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00769:Wdr53
|
APN |
16 |
32,075,315 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGCTAGTCAGCATGTATTTGGG -3'
(R):5'- ATCAGCCGAAGCCAGCAGACTTTC -3'
Sequencing Primer
(F):5'- CTCCTGTGAATGCGTACTAGAG -3'
(R):5'- TCATTCACATGGAAGTGGTCCAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation