Incidental Mutation 'R6548:Wdr24'
ID |
521417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr24
|
Ensembl Gene |
ENSMUSG00000025737 |
Gene Name |
WD repeat domain 24 |
Synonyms |
|
MMRRC Submission |
044673-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6548 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26042601-26047704 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 26046899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 651
(Q651K)
|
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 damaging
Transcript: ENSMUST00000026833
AA Change: Q651K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026833 Gene: ENSMUSG00000025737 AA Change: Q651K
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: ENSMUST00000175335
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160275
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160829
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160349
|
Meta Mutation Damage Score |
0.7797 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
93% (38/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030612E09Rik |
T |
C |
10: 43,050,769 (GRCm39) |
L21P |
probably damaging |
Het |
Ank3 |
C |
T |
10: 69,728,240 (GRCm39) |
A642V |
probably damaging |
Het |
Bap1 |
A |
G |
14: 30,978,182 (GRCm39) |
N349S |
probably benign |
Het |
Brca1 |
G |
T |
11: 101,415,591 (GRCm39) |
Q32K |
probably damaging |
Het |
Ccdc39 |
A |
T |
3: 33,892,108 (GRCm39) |
N121K |
probably benign |
Het |
Champ1 |
A |
T |
8: 13,930,002 (GRCm39) |
N720I |
probably damaging |
Het |
Chd3 |
T |
A |
11: 69,252,886 (GRCm39) |
R216* |
probably null |
Het |
D630003M21Rik |
A |
G |
2: 158,047,619 (GRCm39) |
|
probably null |
Het |
Exoc2 |
A |
T |
13: 31,010,047 (GRCm39) |
V804E |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,791,343 (GRCm39) |
N868S |
probably benign |
Het |
Gm10376 |
T |
C |
14: 42,873,025 (GRCm39) |
M1V |
probably null |
Het |
Gpc2 |
G |
A |
5: 138,275,533 (GRCm39) |
|
probably null |
Het |
Gpr37 |
G |
A |
6: 25,688,812 (GRCm39) |
T95I |
probably benign |
Het |
Ints3 |
G |
A |
3: 90,299,431 (GRCm39) |
|
probably benign |
Het |
Krt28 |
T |
C |
11: 99,257,839 (GRCm39) |
E334G |
probably damaging |
Het |
Lrrc75a |
T |
A |
11: 62,496,921 (GRCm39) |
T214S |
probably damaging |
Het |
Lyar |
A |
G |
5: 38,385,202 (GRCm39) |
I81V |
probably benign |
Het |
Mon2 |
A |
T |
10: 122,871,998 (GRCm39) |
L342Q |
probably damaging |
Het |
Mug2 |
C |
T |
6: 122,024,401 (GRCm39) |
A491V |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,077,438 (GRCm39) |
T858A |
probably benign |
Het |
Net1 |
C |
T |
13: 3,936,074 (GRCm39) |
|
probably null |
Het |
Or52s1 |
T |
A |
7: 102,861,111 (GRCm39) |
Y4N |
probably benign |
Het |
Or5p76 |
T |
C |
7: 108,122,423 (GRCm39) |
T245A |
probably benign |
Het |
Platr25 |
A |
T |
13: 62,821,623 (GRCm39) |
I110N |
possibly damaging |
Het |
Plk5 |
T |
A |
10: 80,198,879 (GRCm39) |
L412H |
probably damaging |
Het |
Rasal1 |
A |
T |
5: 120,812,790 (GRCm39) |
T605S |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,683,707 (GRCm39) |
D3119V |
probably damaging |
Het |
Serpina1a |
G |
T |
12: 103,820,017 (GRCm39) |
H387N |
probably benign |
Het |
Serpina1d |
G |
T |
12: 103,733,811 (GRCm39) |
N164K |
probably damaging |
Het |
Smurf1 |
A |
G |
5: 144,836,307 (GRCm39) |
Y69H |
probably damaging |
Het |
Sod2 |
A |
G |
17: 13,227,250 (GRCm39) |
K68R |
probably benign |
Het |
Ssbp2 |
A |
G |
13: 91,687,470 (GRCm39) |
N51S |
possibly damaging |
Het |
Tcl1b1 |
A |
G |
12: 105,130,663 (GRCm39) |
R49G |
probably benign |
Het |
Tgfb1 |
A |
G |
7: 25,396,350 (GRCm39) |
I214M |
probably benign |
Het |
Tln1 |
A |
G |
4: 43,547,525 (GRCm39) |
I812T |
probably damaging |
Het |
Topaz1 |
T |
A |
9: 122,577,419 (GRCm39) |
C110S |
possibly damaging |
Het |
Ubap2l |
A |
G |
3: 89,930,867 (GRCm39) |
F393L |
probably damaging |
Het |
Vmn1r62 |
G |
A |
7: 5,678,769 (GRCm39) |
G150D |
probably damaging |
Het |
Wdr7 |
A |
G |
18: 63,911,322 (GRCm39) |
T905A |
possibly damaging |
Het |
Zfyve26 |
A |
G |
12: 79,285,109 (GRCm39) |
F2382S |
probably 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 |
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 |
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'- TGTAGACACACCATCTGGGC -3'
(R):5'- TAGTGTTTCCAGGAACACTAGG -3'
Sequencing Primer
(F):5'- CCGAGCATCTGCAGGACAAG -3'
(R):5'- GTCTGCTCATCGATGTCC -3'
|
Posted On |
2018-06-06 |