Incidental Mutation 'R2428:Wdr53'
| ID |
250323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr53
|
| Ensembl Gene |
ENSMUSG00000022787 |
| Gene Name |
WD repeat domain 53 |
| Synonyms |
1500002B03Rik |
| MMRRC Submission |
040390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R2428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32066047-32075901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32071008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 118
(I118V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023474]
[ENSMUST00000135289]
[ENSMUST00000141820]
[ENSMUST00000178573]
|
| AlphaFold |
Q9DB94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023474
AA Change: I118V
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: I118V
| 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 benign
Transcript: ENSMUST00000141820
AA Change: I118V
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178573
AA Change: I118V
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: I118V
| 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 |
0.0603 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (31/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
A |
3: 36,145,072 (GRCm39) |
A624T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,439,916 (GRCm39) |
A828V |
possibly damaging |
Het |
| Bag6 |
A |
C |
17: 35,366,151 (GRCm39) |
D1117A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,509,533 (GRCm39) |
C3042S |
probably benign |
Het |
| Ctc1 |
G |
A |
11: 68,918,527 (GRCm39) |
V265I |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,480,961 (GRCm39) |
Y298C |
probably damaging |
Het |
| Dmtn |
G |
A |
14: 70,850,843 (GRCm39) |
R183W |
probably damaging |
Het |
| F2rl2 |
T |
A |
13: 95,833,585 (GRCm39) |
I5N |
possibly damaging |
Het |
| Gpr137c |
A |
G |
14: 45,516,420 (GRCm39) |
Y336C |
probably damaging |
Het |
| Gstm6 |
T |
A |
3: 107,850,922 (GRCm39) |
I10F |
possibly damaging |
Het |
| Hivep3 |
T |
A |
4: 119,955,705 (GRCm39) |
C1340* |
probably null |
Het |
| Igf1 |
A |
G |
10: 87,700,683 (GRCm39) |
T36A |
probably damaging |
Het |
| Lrch1 |
T |
A |
14: 75,044,985 (GRCm39) |
|
probably benign |
Het |
| Mrpl40 |
A |
T |
16: 18,691,125 (GRCm39) |
I195N |
probably damaging |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Ndufc1 |
A |
C |
3: 51,315,564 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,523,392 (GRCm39) |
N973S |
possibly damaging |
Het |
| Or4f62 |
G |
A |
2: 111,986,787 (GRCm39) |
V164I |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,675 (GRCm39) |
R188* |
probably null |
Het |
| Or6c212 |
T |
C |
10: 129,558,652 (GRCm39) |
I254V |
probably benign |
Het |
| Or9g19 |
A |
T |
2: 85,600,322 (GRCm39) |
Y59F |
probably damaging |
Het |
| Pkdrej |
C |
A |
15: 85,701,773 (GRCm39) |
E1388* |
probably null |
Het |
| Prrc2b |
T |
A |
2: 32,106,067 (GRCm39) |
D1482E |
probably benign |
Het |
| Relch |
C |
T |
1: 105,673,851 (GRCm39) |
S1080L |
possibly damaging |
Het |
| Sppl2a |
A |
T |
2: 126,754,615 (GRCm39) |
S403R |
possibly damaging |
Het |
| Tespa1 |
A |
G |
10: 130,197,944 (GRCm39) |
D322G |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,288,569 (GRCm39) |
V373M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,644,517 (GRCm39) |
N13079S |
possibly damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,344,774 (GRCm39) |
M1051T |
probably benign |
Het |
| Zfp784 |
G |
C |
7: 5,041,357 (GRCm39) |
|
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 |
|
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'- TGAAGATGGGACCCCGTTAG -3'
(R):5'- TGCTCAGAAATTACCCAAATGC -3'
Sequencing Primer
(F):5'- CCCGTTAGGACACATGCAATTGG -3'
(R):5'- CAGAAATTACCCAAATGCTCTTTGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation