Incidental Mutation 'R6331:Wdr24'
| ID |
510941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr24
|
| Ensembl Gene |
ENSMUSG00000025737 |
| Gene Name |
WD repeat domain 24 |
| Synonyms |
|
| MMRRC Submission |
044485-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6331 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26042601-26047704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 26044650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 168
(D168E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000026833
AA Change: D168E
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
AA Change: D168E
| 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: ENSMUST00000180868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160829
|
| 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: ENSMUST00000143296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144589
|
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,529,199 (GRCm39) |
D981G |
probably damaging |
Het |
| Abcc1 |
C |
A |
16: 14,282,920 (GRCm39) |
A1132D |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,241,519 (GRCm39) |
T364A |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,983,989 (GRCm39) |
M1758L |
probably benign |
Het |
| Ak9 |
T |
C |
10: 41,258,825 (GRCm39) |
V774A |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,915,172 (GRCm39) |
E1934G |
probably benign |
Het |
| Atp2b2 |
C |
T |
6: 113,774,092 (GRCm39) |
A341T |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,238,816 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,175 (GRCm39) |
I1150T |
probably benign |
Het |
| Brd10 |
C |
T |
19: 29,695,147 (GRCm39) |
V1449I |
probably benign |
Het |
| Ccdc102a |
T |
C |
8: 95,638,144 (GRCm39) |
T241A |
probably benign |
Het |
| Chd5 |
G |
T |
4: 152,466,865 (GRCm39) |
R1627S |
probably benign |
Het |
| Clint1 |
T |
C |
11: 45,785,908 (GRCm39) |
S322P |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,877,256 (GRCm39) |
C498* |
probably null |
Het |
| Diaph3 |
T |
G |
14: 87,103,976 (GRCm39) |
S803R |
probably damaging |
Het |
| Dmp1 |
T |
C |
5: 104,354,991 (GRCm39) |
L10P |
probably damaging |
Het |
| Gcc2 |
T |
C |
10: 58,107,287 (GRCm39) |
V741A |
probably benign |
Het |
| Gldn |
A |
G |
9: 54,194,162 (GRCm39) |
M119V |
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,941,718 (GRCm39) |
S574P |
possibly damaging |
Het |
| Hapln4 |
T |
A |
8: 70,537,073 (GRCm39) |
|
probably benign |
Het |
| Hars1 |
A |
G |
18: 36,904,385 (GRCm39) |
V209A |
probably benign |
Het |
| Htt |
T |
A |
5: 35,053,231 (GRCm39) |
F2521L |
possibly damaging |
Het |
| Kif14 |
A |
G |
1: 136,443,724 (GRCm39) |
D1299G |
probably null |
Het |
| Krt25 |
T |
A |
11: 99,208,253 (GRCm39) |
E325V |
probably damaging |
Het |
| Lcmt1 |
T |
C |
7: 122,977,405 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,693,221 (GRCm39) |
N3266K |
probably damaging |
Het |
| Mctp1 |
T |
A |
13: 77,168,982 (GRCm39) |
|
probably null |
Het |
| Mtarc2 |
A |
G |
1: 184,551,525 (GRCm39) |
S304P |
probably damaging |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,503,688 (GRCm39) |
N379S |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,908,037 (GRCm39) |
D1358E |
possibly damaging |
Het |
| Nod1 |
T |
C |
6: 54,901,968 (GRCm39) |
E939G |
probably damaging |
Het |
| Obox1 |
A |
G |
7: 15,289,294 (GRCm39) |
R70G |
probably benign |
Het |
| Or13c25 |
A |
G |
4: 52,911,399 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,144 (GRCm39) |
E180G |
probably benign |
Het |
| Or4a2 |
C |
T |
2: 89,248,695 (GRCm39) |
G21S |
probably benign |
Het |
| Or5m12 |
T |
C |
2: 85,734,560 (GRCm39) |
I279M |
probably benign |
Het |
| Otof |
T |
C |
5: 30,529,279 (GRCm39) |
D1745G |
possibly damaging |
Het |
| Pklr |
A |
G |
3: 89,044,662 (GRCm39) |
I47V |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,851,451 (GRCm39) |
S123T |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,039,198 (GRCm39) |
S337P |
probably damaging |
Het |
| Ptgfrn |
A |
C |
3: 100,952,936 (GRCm39) |
V766G |
possibly damaging |
Het |
| Ptpn11 |
T |
A |
5: 121,282,716 (GRCm39) |
H419L |
probably damaging |
Het |
| Rims3 |
T |
A |
4: 120,740,350 (GRCm39) |
V99E |
probably damaging |
Het |
| Rmc1 |
G |
A |
18: 12,313,571 (GRCm39) |
R228H |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,361 (GRCm39) |
V300A |
probably damaging |
Het |
| Sdad1 |
T |
C |
5: 92,451,789 (GRCm39) |
D144G |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,178 (GRCm39) |
Y22H |
possibly damaging |
Het |
| Slc39a1 |
A |
G |
3: 90,159,588 (GRCm39) |
K305R |
possibly damaging |
Het |
| Slc5a4a |
A |
G |
10: 76,014,034 (GRCm39) |
R414G |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,753,500 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9b |
C |
T |
11: 50,022,324 (GRCm39) |
A20V |
possibly damaging |
Het |
| Tgfb3 |
G |
T |
12: 86,110,638 (GRCm39) |
D237E |
probably benign |
Het |
| Tle6 |
A |
G |
10: 81,431,073 (GRCm39) |
S234P |
probably benign |
Het |
| Tnrc6b |
A |
G |
15: 80,763,815 (GRCm39) |
N439S |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,248,925 (GRCm39) |
S783P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,632,698 (GRCm39) |
Y12373N |
probably damaging |
Het |
| Tube1 |
G |
A |
10: 39,010,097 (GRCm39) |
V7I |
probably benign |
Het |
| Tufm |
T |
C |
7: 126,088,410 (GRCm39) |
V265A |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,877,402 (GRCm39) |
H1550R |
possibly damaging |
Het |
| Usp33 |
A |
T |
3: 152,081,887 (GRCm39) |
M546L |
probably damaging |
Het |
| Uspl1 |
C |
A |
5: 149,151,097 (GRCm39) |
Q752K |
probably benign |
Het |
| Vmn1r20 |
A |
G |
6: 57,408,655 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,521 (GRCm39) |
F245S |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,186,182 (GRCm39) |
S168P |
probably damaging |
Het |
| Zfp646 |
C |
T |
7: 127,482,853 (GRCm39) |
P1677S |
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 |
|
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'- TGAAACTACCTGGCATACTCTG -3'
(R):5'- AGGCATCGTTTAGCCTCCAG -3'
Sequencing Primer
(F):5'- GGCATACTCTGGCCTAGGC -3'
(R):5'- GTTTAGCCTCCAGCCTTAAGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation