Incidental Mutation 'R2030:Wdr24'
| ID |
221186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr24
|
| Ensembl Gene |
ENSMUSG00000025737 |
| Gene Name |
WD repeat domain 24 |
| Synonyms |
|
| MMRRC Submission |
040037-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2030 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26042601-26047704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26045017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 251
(I251V)
|
| 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 benign
Transcript: ENSMUST00000026833
AA Change: I251V
PolyPhen 2
Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
AA Change: I251V
| 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: ENSMUST00000143296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.1312 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
C |
T |
13: 41,981,735 (GRCm39) |
V13I |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 128,902,013 (GRCm39) |
K229E |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,241,502 (GRCm39) |
V741D |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,197,697 (GRCm39) |
M896K |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,288,547 (GRCm39) |
R237C |
probably benign |
Het |
| Cdk7 |
A |
G |
13: 100,859,182 (GRCm39) |
|
probably benign |
Het |
| CK137956 |
A |
G |
4: 127,845,180 (GRCm39) |
S188P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dbndd2 |
A |
G |
2: 164,330,563 (GRCm39) |
D72G |
probably damaging |
Het |
| Disp3 |
A |
T |
4: 148,344,423 (GRCm39) |
I493N |
probably damaging |
Het |
| Dnaaf10 |
A |
T |
11: 17,179,832 (GRCm39) |
T278S |
probably benign |
Het |
| Epx |
T |
C |
11: 87,755,650 (GRCm39) |
D678G |
probably damaging |
Het |
| Fbxw5 |
G |
T |
2: 25,394,810 (GRCm39) |
V235L |
probably damaging |
Het |
| Fmo4 |
T |
A |
1: 162,621,741 (GRCm39) |
D490V |
probably damaging |
Het |
| Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,425,544 (GRCm39) |
V205I |
probably damaging |
Het |
| Gpat3 |
G |
A |
5: 101,045,687 (GRCm39) |
R437K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,834,121 (GRCm39) |
S3109G |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,808,888 (GRCm39) |
R1117H |
probably damaging |
Het |
| Htra4 |
T |
A |
8: 25,523,593 (GRCm39) |
D324V |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,366,853 (GRCm39) |
Y241C |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,489,071 (GRCm39) |
L1072F |
probably damaging |
Het |
| Lrrc52 |
T |
C |
1: 167,294,028 (GRCm39) |
N86D |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,188,247 (GRCm39) |
T26A |
probably damaging |
Het |
| Mre11a |
A |
T |
9: 14,707,101 (GRCm39) |
N117Y |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,076 (GRCm39) |
S279T |
possibly damaging |
Het |
| Myh13 |
T |
G |
11: 67,241,064 (GRCm39) |
S814A |
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,153,678 (GRCm39) |
V679A |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,379,771 (GRCm39) |
V1007D |
probably damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,277,049 (GRCm39) |
H960L |
probably damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,769 (GRCm39) |
M263K |
possibly damaging |
Het |
| Or4a72 |
C |
T |
2: 89,405,558 (GRCm39) |
V171I |
probably benign |
Het |
| Or7e169 |
A |
G |
9: 19,757,709 (GRCm39) |
S69P |
probably benign |
Het |
| Pklr |
A |
G |
3: 89,050,545 (GRCm39) |
Y402C |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,334 (GRCm39) |
T1319A |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 51,982,358 (GRCm39) |
V541E |
probably damaging |
Het |
| Ryk |
T |
A |
9: 102,758,855 (GRCm39) |
I248N |
possibly damaging |
Het |
| Shisa2 |
A |
T |
14: 59,867,134 (GRCm39) |
I129F |
probably damaging |
Het |
| Snap25 |
T |
G |
2: 136,611,973 (GRCm39) |
|
probably benign |
Het |
| Snx31 |
G |
A |
15: 36,525,848 (GRCm39) |
P284S |
probably benign |
Het |
| Spata31g1 |
C |
T |
4: 42,974,131 (GRCm39) |
Q1155* |
probably null |
Het |
| Tas2r140 |
A |
G |
6: 40,469,154 (GRCm39) |
K328R |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,032,213 (GRCm39) |
T182A |
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,372,387 (GRCm39) |
R35C |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,937,443 (GRCm39) |
N3811Y |
probably damaging |
Het |
| Tpte |
A |
C |
8: 22,835,901 (GRCm39) |
N428T |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,831,629 (GRCm39) |
D1498G |
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,842,444 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,703,277 (GRCm39) |
|
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,848,006 (GRCm39) |
Y278H |
probably damaging |
Het |
| Zfat |
A |
G |
15: 67,990,783 (GRCm39) |
|
probably null |
Het |
| Zfp442 |
A |
T |
2: 150,250,042 (GRCm39) |
V620E |
possibly damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,984 (GRCm39) |
H540R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACGATGCCTTTGGGTGTG -3'
(R):5'- AAACAGGTGCTGGCATAACG -3'
Sequencing Primer
(F):5'- GGCAGGGTCTCCTTTCCCATG -3'
(R):5'- CATAACGTGCTGTCCTTGGAGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation