Incidental Mutation 'R4495:Wdr53'
| ID |
330945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr53
|
| Ensembl Gene |
ENSMUSG00000022787 |
| Gene Name |
WD repeat domain 53 |
| Synonyms |
1500002B03Rik |
| MMRRC Submission |
041583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32066047-32075901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32070969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 105
(T105A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023474]
[ENSMUST00000042732]
[ENSMUST00000135289]
[ENSMUST00000141820]
[ENSMUST00000178573]
|
| AlphaFold |
Q9DB94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023474
AA Change: T105A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: T105A
| 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 benign
Transcript: ENSMUST00000135289
AA Change: T105A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141820
AA Change: T105A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178573
AA Change: T105A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: T105A
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
T |
C |
2: 179,422,182 (GRCm39) |
V102A |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
| Cyp2b9 |
T |
A |
7: 25,900,180 (GRCm39) |
D329E |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 134,998,429 (GRCm39) |
F375S |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,124,792 (GRCm39) |
S154A |
probably benign |
Het |
| Fry |
G |
T |
5: 150,233,928 (GRCm39) |
E133D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,322,034 (GRCm39) |
L4562P |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,433,079 (GRCm39) |
E505V |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,897,416 (GRCm39) |
E1050G |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,088,301 (GRCm39) |
|
probably null |
Het |
| Klra10 |
T |
G |
6: 130,256,311 (GRCm39) |
E114D |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,813 (GRCm39) |
I38V |
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,581,429 (GRCm39) |
T412S |
probably benign |
Het |
| Or4k37 |
T |
A |
2: 111,159,365 (GRCm39) |
N200K |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,753,495 (GRCm39) |
R97C |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,099,445 (GRCm39) |
V848A |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,556,416 (GRCm39) |
V188A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,450 (GRCm39) |
T235A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,111,146 (GRCm39) |
|
probably null |
Het |
| Sidt1 |
C |
T |
16: 44,102,841 (GRCm39) |
V295M |
probably damaging |
Het |
| Sla |
T |
C |
15: 66,673,361 (GRCm39) |
T10A |
probably benign |
Het |
| Slc22a20 |
A |
G |
19: 6,034,952 (GRCm39) |
S170P |
probably benign |
Het |
| Syt6 |
C |
A |
3: 103,494,876 (GRCm39) |
C280* |
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,922 (GRCm39) |
K125* |
probably null |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,905 (GRCm39) |
L237H |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
| Zfp704 |
T |
A |
3: 9,536,137 (GRCm39) |
S128C |
probably benign |
Het |
| Zfp759 |
A |
G |
13: 67,286,989 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,625,075 (GRCm39) |
D1494E |
probably benign |
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 |
|
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 |
|
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'- TGAAGATGGGACCCCGTTAG -3'
(R):5'- TGCTCAGAAATTACCCAAATGCTC -3'
Sequencing Primer
(F):5'- CCCGTTAGGACACATGCAATTGG -3'
(R):5'- CAGAAATTACCCAAATGCTCTTTGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation