Incidental Mutation 'IGL00942:Wdr24'
ID |
29292 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdr24
|
Ensembl Gene |
ENSMUSG00000025737 |
Gene Name |
WD repeat domain 24 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00942
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
26042601-26047704 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26045595 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 443
(N443K)
|
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: N443K
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000026833 Gene: ENSMUSG00000025737 AA Change: N443K
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: ENSMUST00000160349
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160829
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175335
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160275
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143296
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
A |
C |
5: 62,855,732 (GRCm39) |
L568* |
probably null |
Het |
Arfgef2 |
G |
A |
2: 166,727,773 (GRCm39) |
V1574M |
probably damaging |
Het |
Arhgef12 |
C |
T |
9: 42,893,296 (GRCm39) |
R969H |
probably damaging |
Het |
Cacng1 |
A |
T |
11: 107,595,195 (GRCm39) |
F127L |
probably benign |
Het |
Cntnap5c |
T |
C |
17: 58,076,593 (GRCm39) |
V10A |
probably benign |
Het |
Crtac1 |
T |
G |
19: 42,312,233 (GRCm39) |
D160A |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,710,502 (GRCm39) |
|
probably null |
Het |
Grin3a |
A |
G |
4: 49,770,589 (GRCm39) |
F728L |
probably damaging |
Het |
H3c1 |
T |
C |
13: 23,945,921 (GRCm39) |
|
probably benign |
Het |
Hecw1 |
C |
T |
13: 14,515,325 (GRCm39) |
|
probably benign |
Het |
Iyd |
C |
T |
10: 3,554,070 (GRCm38) |
C239F |
probably damaging |
Het |
Madd |
A |
G |
2: 91,000,923 (GRCm39) |
V486A |
probably damaging |
Het |
Map3k7 |
A |
G |
4: 32,019,539 (GRCm39) |
D533G |
probably damaging |
Het |
Matk |
A |
G |
10: 81,094,128 (GRCm39) |
D20G |
probably benign |
Het |
Mphosph10 |
A |
G |
7: 64,039,503 (GRCm39) |
S156P |
probably benign |
Het |
Mtif2 |
G |
A |
11: 29,488,753 (GRCm39) |
E356K |
probably damaging |
Het |
Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
Nipal3 |
A |
T |
4: 135,195,904 (GRCm39) |
L233Q |
possibly damaging |
Het |
Or7e169 |
T |
C |
9: 19,757,555 (GRCm39) |
Y120C |
probably damaging |
Het |
Prss32 |
T |
A |
17: 24,078,134 (GRCm39) |
C273* |
probably null |
Het |
Prtg |
T |
C |
9: 72,799,622 (GRCm39) |
S807P |
possibly damaging |
Het |
Ric3 |
T |
G |
7: 108,653,619 (GRCm39) |
E157D |
probably damaging |
Het |
Ric3 |
T |
A |
7: 108,653,620 (GRCm39) |
E157V |
probably damaging |
Het |
Slc16a14 |
G |
A |
1: 84,900,592 (GRCm39) |
T131I |
probably damaging |
Het |
Slc1a2 |
A |
T |
2: 102,570,159 (GRCm39) |
N137Y |
probably damaging |
Het |
Slc25a27 |
T |
C |
17: 43,974,980 (GRCm39) |
I94V |
probably benign |
Het |
Slco1a1 |
G |
A |
6: 141,892,354 (GRCm39) |
T4I |
probably benign |
Het |
Slf1 |
A |
T |
13: 77,192,066 (GRCm39) |
F923I |
possibly damaging |
Het |
Taf7l2 |
A |
G |
10: 115,949,341 (GRCm39) |
S62P |
possibly damaging |
Het |
Ttll12 |
A |
C |
15: 83,466,649 (GRCm39) |
V306G |
possibly damaging |
Het |
Tulp2 |
G |
A |
7: 45,165,692 (GRCm39) |
V97I |
possibly damaging |
Het |
Vmn2r65 |
T |
G |
7: 84,592,761 (GRCm39) |
Q482P |
probably damaging |
Het |
|
Other mutations in Wdr24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R5975:Wdr24
|
UTSW |
17 |
26,046,102 (GRCm39) |
missense |
probably benign |
0.37 |
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 |
|
Posted On |
2013-04-17 |