Incidental Mutation 'R5975:Wdr24'
ID |
471728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr24
|
Ensembl Gene |
ENSMUSG00000025737 |
Gene Name |
WD repeat domain 24 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5975 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26042601-26047704 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26046102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 476
(S476P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026832]
[ENSMUST00000026833]
[ENSMUST00000044911]
[ENSMUST00000123582]
[ENSMUST00000133595]
|
AlphaFold |
Q8CFJ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026832
|
SMART Domains |
Protein: ENSMUSP00000026832 Gene: ENSMUSG00000025736
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
JmjC
|
140 |
271 |
5.27e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000026833
AA Change: S476P
PolyPhen 2
Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000026833 Gene: ENSMUSG00000025737 AA Change: S476P
Domain | Start | End | E-Value | Type |
Blast:WD40
|
19 |
53 |
6e-8 |
BLAST |
WD40
|
68 |
103 |
2.13e1 |
SMART |
WD40
|
109 |
149 |
5.77e-5 |
SMART |
WD40
|
152 |
192 |
4.48e-2 |
SMART |
WD40
|
196 |
236 |
1.48e-11 |
SMART |
WD40
|
244 |
282 |
1.66e0 |
SMART |
WD40
|
286 |
327 |
2.48e0 |
SMART |
low complexity region
|
605 |
623 |
N/A |
INTRINSIC |
Blast:RING
|
743 |
780 |
2e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000044911
|
SMART Domains |
Protein: ENSMUSP00000040431 Gene: ENSMUSG00000039615
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
TPR
|
27 |
60 |
2.43e1 |
SMART |
TPR
|
61 |
94 |
1.48e-7 |
SMART |
TPR
|
95 |
128 |
4.52e-3 |
SMART |
low complexity region
|
168 |
180 |
N/A |
INTRINSIC |
Ubox
|
231 |
294 |
1.27e-28 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123560
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123582
|
SMART Domains |
Protein: ENSMUSP00000119840 Gene: ENSMUSG00000025736
Domain | Start | End | E-Value | Type |
low complexity region
|
158 |
172 |
N/A |
INTRINSIC |
low complexity region
|
194 |
208 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123692
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133595
|
SMART Domains |
Protein: ENSMUSP00000122744 Gene: ENSMUSG00000025736
Domain | Start | End | E-Value | Type |
transmembrane domain
|
55 |
74 |
N/A |
INTRINSIC |
JmjC
|
185 |
316 |
5.27e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160349
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175335
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160275
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160829
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152434
|
SMART Domains |
Protein: ENSMUSP00000119378 Gene: ENSMUSG00000025736
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1598 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
98% (80/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430038I01Rik |
T |
C |
7: 136,989,021 (GRCm39) |
|
probably benign |
Het |
Abhd14a |
A |
T |
9: 106,321,150 (GRCm39) |
|
probably null |
Het |
Actn2 |
T |
C |
13: 12,355,378 (GRCm39) |
N2D |
probably benign |
Het |
Adcy9 |
T |
C |
16: 4,129,431 (GRCm39) |
E722G |
probably damaging |
Het |
Alox12 |
C |
A |
11: 70,133,609 (GRCm39) |
V572L |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,616,488 (GRCm39) |
I2434V |
possibly damaging |
Het |
Anks1 |
T |
A |
17: 28,210,421 (GRCm39) |
|
probably null |
Het |
Bltp1 |
C |
T |
3: 37,023,370 (GRCm39) |
T2233I |
possibly damaging |
Het |
Bpifa3 |
T |
A |
2: 153,978,241 (GRCm39) |
S148T |
probably damaging |
Het |
Bptf |
C |
T |
11: 106,926,690 (GRCm39) |
|
probably benign |
Het |
Cabin1 |
A |
T |
10: 75,493,673 (GRCm39) |
L1655H |
probably damaging |
Het |
Ccdc13 |
G |
T |
9: 121,656,301 (GRCm39) |
Q171K |
probably benign |
Het |
Ccdc33 |
T |
A |
9: 58,024,761 (GRCm39) |
Q155L |
possibly damaging |
Het |
Cckbr |
G |
A |
7: 105,119,826 (GRCm39) |
G280E |
probably benign |
Het |
Cdk11b |
G |
A |
4: 155,732,697 (GRCm39) |
|
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,803,239 (GRCm39) |
|
probably null |
Het |
Cenpj |
A |
T |
14: 56,801,523 (GRCm39) |
I150N |
possibly damaging |
Het |
Cep135 |
C |
A |
5: 76,788,737 (GRCm39) |
A1110E |
possibly damaging |
Het |
Chit1 |
C |
A |
1: 134,074,364 (GRCm39) |
H224N |
probably damaging |
Het |
Cul5 |
T |
C |
9: 53,534,093 (GRCm39) |
R680G |
probably damaging |
Het |
Dhx58 |
C |
A |
11: 100,593,035 (GRCm39) |
R224L |
probably damaging |
Het |
Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
Dnah5 |
A |
C |
15: 28,234,428 (GRCm39) |
D279A |
probably damaging |
Het |
Dnai4 |
G |
A |
4: 102,906,786 (GRCm39) |
P676S |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,578,375 (GRCm39) |
|
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,650,740 (GRCm39) |
W799R |
probably benign |
Het |
Ercc5 |
A |
G |
1: 44,212,566 (GRCm39) |
T675A |
probably benign |
Het |
Farsa |
T |
A |
8: 85,591,061 (GRCm39) |
|
probably null |
Het |
Fbxw15 |
A |
T |
9: 109,384,320 (GRCm39) |
V397D |
probably damaging |
Het |
Fcrl5 |
G |
A |
3: 87,349,410 (GRCm39) |
V62I |
probably benign |
Het |
Gart |
A |
G |
16: 91,421,224 (GRCm39) |
S815P |
probably damaging |
Het |
Glrx5 |
A |
G |
12: 105,006,582 (GRCm39) |
N111S |
possibly damaging |
Het |
Gm10845 |
A |
G |
14: 80,100,614 (GRCm39) |
|
noncoding transcript |
Het |
Gm9925 |
T |
A |
18: 74,198,587 (GRCm39) |
|
probably benign |
Het |
Gsdme |
T |
C |
6: 50,204,339 (GRCm39) |
N206S |
probably benign |
Het |
Helz2 |
T |
C |
2: 180,872,843 (GRCm39) |
S2459G |
probably benign |
Het |
Hnrnpul1 |
A |
G |
7: 25,453,784 (GRCm39) |
S93P |
possibly damaging |
Het |
Ints2 |
A |
T |
11: 86,117,574 (GRCm39) |
I716N |
possibly damaging |
Het |
Lmnb2 |
G |
A |
10: 80,740,962 (GRCm39) |
Q248* |
probably null |
Het |
Map3k7cl |
A |
G |
16: 87,367,209 (GRCm39) |
I32V |
probably benign |
Het |
Mfsd4b4 |
A |
T |
10: 39,768,466 (GRCm39) |
I255N |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,187,965 (GRCm39) |
I1163T |
probably benign |
Het |
Nphs1 |
A |
T |
7: 30,165,540 (GRCm39) |
T636S |
possibly damaging |
Het |
Ntsr1 |
T |
A |
2: 180,142,581 (GRCm39) |
L124Q |
probably damaging |
Het |
Obscn |
C |
T |
11: 59,013,445 (GRCm39) |
|
probably null |
Het |
P4ha2 |
G |
A |
11: 54,017,238 (GRCm39) |
|
probably null |
Het |
Pcdha9 |
T |
A |
18: 37,132,164 (GRCm39) |
V411D |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,389,384 (GRCm39) |
I1380F |
probably damaging |
Het |
Plekha1 |
T |
C |
7: 130,493,983 (GRCm39) |
V106A |
probably benign |
Het |
Plekhm1 |
A |
T |
11: 103,267,517 (GRCm39) |
V818E |
possibly damaging |
Het |
Pprc1 |
T |
G |
19: 46,053,809 (GRCm39) |
|
probably benign |
Het |
Prb1c |
A |
G |
6: 132,339,036 (GRCm39) |
S61P |
unknown |
Het |
Prmt9 |
T |
C |
8: 78,287,647 (GRCm39) |
|
probably benign |
Het |
Rab26 |
T |
C |
17: 24,749,373 (GRCm39) |
N193D |
possibly damaging |
Het |
Rnf111 |
A |
G |
9: 70,336,862 (GRCm39) |
S942P |
probably damaging |
Het |
Scgb2b18 |
T |
C |
7: 32,872,650 (GRCm39) |
T52A |
probably damaging |
Het |
Syt3 |
C |
T |
7: 44,042,187 (GRCm39) |
Q349* |
probably null |
Het |
Tas2r107 |
T |
C |
6: 131,636,743 (GRCm39) |
N102S |
probably benign |
Het |
Tas2r126 |
T |
A |
6: 42,411,934 (GRCm39) |
Y156N |
possibly damaging |
Het |
Tcaf2 |
A |
T |
6: 42,619,712 (GRCm39) |
I105N |
probably benign |
Het |
Tet1 |
A |
C |
10: 62,715,552 (GRCm39) |
M81R |
probably benign |
Het |
Togaram2 |
T |
C |
17: 72,036,200 (GRCm39) |
Y897H |
probably damaging |
Het |
Trerf1 |
A |
T |
17: 47,625,197 (GRCm39) |
|
noncoding transcript |
Het |
Ttn |
G |
A |
2: 76,591,579 (GRCm39) |
T12703I |
probably damaging |
Het |
Unc79 |
A |
G |
12: 103,091,885 (GRCm39) |
K1735E |
possibly damaging |
Het |
Usp54 |
G |
A |
14: 20,633,419 (GRCm39) |
T372I |
possibly damaging |
Het |
Zbtb1 |
T |
C |
12: 76,433,049 (GRCm39) |
I345T |
possibly damaging |
Het |
Zcrb1 |
T |
A |
15: 93,293,496 (GRCm39) |
I29L |
probably benign |
Het |
Zfp341 |
T |
A |
2: 154,472,361 (GRCm39) |
C315S |
probably damaging |
Het |
Zfp623 |
C |
A |
15: 75,820,012 (GRCm39) |
R323S |
probably benign |
Het |
Zfp831 |
T |
A |
2: 174,485,885 (GRCm39) |
Y187N |
possibly damaging |
Het |
|
Other mutations in Wdr24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00942:Wdr24
|
APN |
17 |
26,045,595 (GRCm39) |
missense |
probably benign |
0.20 |
IGL01700:Wdr24
|
APN |
17 |
26,044,802 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01763:Wdr24
|
APN |
17 |
26,045,164 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02567:Wdr24
|
APN |
17 |
26,043,322 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03100:Wdr24
|
APN |
17 |
26,044,681 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0012:Wdr24
|
UTSW |
17 |
26,046,087 (GRCm39) |
missense |
probably benign |
|
R0799:Wdr24
|
UTSW |
17 |
26,045,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R1015:Wdr24
|
UTSW |
17 |
26,047,212 (GRCm39) |
missense |
probably benign |
0.12 |
R1276:Wdr24
|
UTSW |
17 |
26,046,441 (GRCm39) |
missense |
probably benign |
0.02 |
R1297:Wdr24
|
UTSW |
17 |
26,046,322 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1934:Wdr24
|
UTSW |
17 |
26,043,240 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2030:Wdr24
|
UTSW |
17 |
26,045,017 (GRCm39) |
missense |
probably benign |
0.38 |
R2069:Wdr24
|
UTSW |
17 |
26,045,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Wdr24
|
UTSW |
17 |
26,043,273 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4601:Wdr24
|
UTSW |
17 |
26,047,181 (GRCm39) |
splice site |
probably null |
|
R4604:Wdr24
|
UTSW |
17 |
26,047,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R4894:Wdr24
|
UTSW |
17 |
26,045,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R5068:Wdr24
|
UTSW |
17 |
26,044,753 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5088:Wdr24
|
UTSW |
17 |
26,047,181 (GRCm39) |
splice site |
probably null |
|
R5104:Wdr24
|
UTSW |
17 |
26,043,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R5498:Wdr24
|
UTSW |
17 |
26,043,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R5719:Wdr24
|
UTSW |
17 |
26,047,314 (GRCm39) |
critical splice donor site |
probably null |
|
R5892:Wdr24
|
UTSW |
17 |
26,046,960 (GRCm39) |
missense |
probably benign |
0.00 |
R6084:Wdr24
|
UTSW |
17 |
26,043,504 (GRCm39) |
missense |
probably damaging |
0.99 |
R6106:Wdr24
|
UTSW |
17 |
26,043,579 (GRCm39) |
missense |
probably benign |
|
R6114:Wdr24
|
UTSW |
17 |
26,043,579 (GRCm39) |
missense |
probably benign |
|
R6116:Wdr24
|
UTSW |
17 |
26,043,579 (GRCm39) |
missense |
probably benign |
|
R6165:Wdr24
|
UTSW |
17 |
26,045,395 (GRCm39) |
missense |
probably benign |
0.18 |
R6175:Wdr24
|
UTSW |
17 |
26,045,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R6331:Wdr24
|
UTSW |
17 |
26,044,650 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6548:Wdr24
|
UTSW |
17 |
26,046,899 (GRCm39) |
missense |
probably damaging |
0.99 |
R6984:Wdr24
|
UTSW |
17 |
26,047,209 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7485:Wdr24
|
UTSW |
17 |
26,045,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R7583:Wdr24
|
UTSW |
17 |
26,044,804 (GRCm39) |
missense |
probably null |
1.00 |
R7770:Wdr24
|
UTSW |
17 |
26,046,070 (GRCm39) |
missense |
probably benign |
0.04 |
R8086:Wdr24
|
UTSW |
17 |
26,045,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R8164:Wdr24
|
UTSW |
17 |
26,044,923 (GRCm39) |
splice site |
probably null |
|
R9210:Wdr24
|
UTSW |
17 |
26,043,472 (GRCm39) |
missense |
probably benign |
0.00 |
R9212:Wdr24
|
UTSW |
17 |
26,043,472 (GRCm39) |
missense |
probably benign |
0.00 |
R9567:Wdr24
|
UTSW |
17 |
26,043,190 (GRCm39) |
missense |
probably damaging |
0.98 |
R9667:Wdr24
|
UTSW |
17 |
26,046,301 (GRCm39) |
missense |
possibly damaging |
0.55 |
X0022:Wdr24
|
UTSW |
17 |
26,043,246 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Wdr24
|
UTSW |
17 |
26,044,661 (GRCm39) |
missense |
probably benign |
0.29 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGTAGATCAGGCCATGGGTTG -3'
(R):5'- CCTCATTGGTGACGAGTGTG -3'
Sequencing Primer
(F):5'- GGTATATGACTCTGCTCAGGAG -3'
(R):5'- CTGAAGAGTCAAGCAGCGCC -3'
|
Posted On |
2017-03-31 |