Incidental Mutation 'R8086:Wdr24'
ID |
629677 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr24
|
Ensembl Gene |
ENSMUSG00000025737 |
Gene Name |
WD repeat domain 24 |
Synonyms |
|
MMRRC Submission |
067519-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8086 (G1)
|
Quality Score |
169.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26042601-26047704 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26045101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 279
(Y279H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026832]
[ENSMUST00000026833]
[ENSMUST00000044911]
[ENSMUST00000045692]
[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: Y279H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000026833 Gene: ENSMUSG00000025737 AA Change: Y279H
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 |
probably benign
Transcript: ENSMUST00000045692
|
SMART Domains |
Protein: ENSMUSP00000048562 Gene: ENSMUSG00000025738
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
65 |
N/A |
INTRINSIC |
low complexity region
|
70 |
89 |
N/A |
INTRINSIC |
Blast:FBOX
|
98 |
137 |
2e-14 |
BLAST |
LRR
|
241 |
266 |
1.32e1 |
SMART |
LRR
|
267 |
291 |
1.61e2 |
SMART |
LRR
|
293 |
318 |
1.76e2 |
SMART |
LRR
|
319 |
344 |
3.21e-4 |
SMART |
LRR
|
345 |
370 |
7.67e-2 |
SMART |
LRR
|
371 |
396 |
6.13e-1 |
SMART |
LRR
|
421 |
446 |
3.52e-1 |
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 |
noncoding transcript
Transcript: ENSMUST00000160275
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160829
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160349
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144589
|
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 |
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 |
0.3685 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.4%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,055,808 (GRCm39) |
H372L |
|
Het |
Abcb1a |
A |
T |
5: 8,724,833 (GRCm39) |
T89S |
probably benign |
Het |
Ago1 |
A |
G |
4: 126,354,774 (GRCm39) |
V146A |
probably benign |
Het |
App |
T |
C |
16: 84,917,428 (GRCm39) |
Y72C |
unknown |
Het |
Arhgap20 |
T |
C |
9: 51,760,563 (GRCm39) |
S805P |
probably benign |
Het |
Bak1 |
T |
A |
17: 27,239,911 (GRCm39) |
R208S |
probably benign |
Het |
Btnl4 |
A |
C |
17: 34,692,976 (GRCm39) |
|
probably null |
Het |
Cacng7 |
T |
C |
7: 3,387,518 (GRCm39) |
S134P |
probably benign |
Het |
Capn9 |
A |
T |
8: 125,334,692 (GRCm39) |
|
probably null |
Het |
Cox4i1 |
T |
A |
8: 121,400,779 (GRCm39) |
M148K |
probably damaging |
Het |
Ctnna1 |
A |
G |
18: 35,285,713 (GRCm39) |
I20V |
possibly damaging |
Het |
Dennd2c |
T |
A |
3: 103,040,661 (GRCm39) |
Y309N |
possibly damaging |
Het |
Dnah14 |
C |
A |
1: 181,593,797 (GRCm39) |
T3380K |
probably damaging |
Het |
Dnajc3 |
G |
T |
14: 119,208,192 (GRCm39) |
E276* |
probably null |
Het |
Dock10 |
C |
A |
1: 80,481,707 (GRCm39) |
C1772F |
probably benign |
Het |
Fank1 |
A |
T |
7: 133,454,959 (GRCm39) |
E26D |
possibly damaging |
Het |
Fcgbp |
G |
T |
7: 27,813,389 (GRCm39) |
C2308F |
probably damaging |
Het |
Fyco1 |
A |
T |
9: 123,659,471 (GRCm39) |
M235K |
probably damaging |
Het |
Gm7361 |
C |
T |
5: 26,465,446 (GRCm39) |
R148C |
probably damaging |
Het |
Hinfp |
C |
T |
9: 44,210,286 (GRCm39) |
R183Q |
probably damaging |
Het |
Hpd |
T |
C |
5: 123,314,252 (GRCm39) |
Y221C |
probably benign |
Het |
Hrnr |
A |
T |
3: 93,230,728 (GRCm39) |
H322L |
unknown |
Het |
Il6st |
T |
A |
13: 112,631,094 (GRCm39) |
|
probably null |
Het |
Impa1 |
T |
C |
3: 10,387,988 (GRCm39) |
K145E |
probably benign |
Het |
Itga9 |
A |
T |
9: 118,679,869 (GRCm39) |
M847L |
probably benign |
Het |
Itgb6 |
A |
G |
2: 60,480,376 (GRCm39) |
V320A |
probably damaging |
Het |
Lrrfip1 |
T |
A |
1: 91,043,630 (GRCm39) |
H678Q |
probably benign |
Het |
Mettl16 |
A |
G |
11: 74,696,091 (GRCm39) |
T311A |
probably benign |
Het |
Nefl |
T |
C |
14: 68,323,480 (GRCm39) |
Y369H |
probably damaging |
Het |
Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,800,188 (GRCm39) |
Y2983C |
probably damaging |
Het |
Potegl |
A |
G |
2: 23,130,934 (GRCm39) |
|
probably null |
Het |
Prr5l |
C |
T |
2: 101,571,709 (GRCm39) |
E123K |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,482,500 (GRCm39) |
Y1024* |
probably null |
Het |
Ramp2 |
T |
A |
11: 101,138,762 (GRCm39) |
L147Q |
probably damaging |
Het |
Rassf1 |
C |
T |
9: 107,435,173 (GRCm39) |
R223C |
probably benign |
Het |
Rcbtb2 |
T |
C |
14: 73,411,305 (GRCm39) |
F357L |
probably damaging |
Het |
Rnf24 |
A |
G |
2: 131,145,468 (GRCm39) |
V114A |
probably benign |
Het |
Slc7a1 |
T |
G |
5: 148,288,899 (GRCm39) |
N116T |
probably damaging |
Het |
Sstr2 |
T |
C |
11: 113,515,998 (GRCm39) |
C306R |
probably damaging |
Het |
Tatdn2 |
T |
C |
6: 113,686,482 (GRCm39) |
S697P |
probably damaging |
Het |
Tmem67 |
T |
A |
4: 12,040,738 (GRCm39) |
N935I |
probably damaging |
Het |
Trp73 |
G |
A |
4: 154,201,052 (GRCm39) |
P4S |
unknown |
Het |
Vmn1r237 |
T |
G |
17: 21,534,509 (GRCm39) |
D77E |
possibly damaging |
Het |
Vmn1r238 |
C |
T |
18: 3,123,250 (GRCm39) |
A55T |
probably damaging |
Het |
Vsig10l |
C |
A |
7: 43,114,876 (GRCm39) |
A359E |
possibly damaging |
Het |
Zbtb25 |
A |
G |
12: 76,395,923 (GRCm39) |
V433A |
probably benign |
Het |
Zfp180 |
C |
A |
7: 23,805,535 (GRCm39) |
D651E |
probably benign |
Het |
Zfp979 |
T |
C |
4: 147,698,004 (GRCm39) |
D235G |
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 |
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 |
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'- AGCTTGAGTGGGACATTCTCC -3'
(R):5'- TTAACAGCAAAGGCCAGGTC -3'
Sequencing Primer
(F):5'- ACTGTGTGCAGACAATCG -3'
(R):5'- TTGGCACGCTCAACAGG -3'
|
Posted On |
2020-06-30 |