Incidental Mutation 'R1015:Wdr24'
| ID |
96224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr24
|
| Ensembl Gene |
ENSMUSG00000025737 |
| Gene Name |
WD repeat domain 24 |
| Synonyms |
|
| MMRRC Submission |
039119-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1015 (G1)
|
| Quality Score |
197 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26042601-26047704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26047212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 702
(S702G)
|
| 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: S702G
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
AA Change: S702G
| 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: ENSMUST00000160829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160275
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3d1 |
A |
G |
10: 80,552,323 (GRCm39) |
V615A |
probably damaging |
Het |
| Atp6v1d |
A |
G |
12: 78,896,543 (GRCm39) |
V108A |
possibly damaging |
Het |
| B3gnt6 |
C |
A |
7: 97,843,802 (GRCm39) |
V53L |
probably benign |
Het |
| C8b |
A |
G |
4: 104,644,157 (GRCm39) |
K275E |
probably benign |
Het |
| Cage1 |
T |
A |
13: 38,200,451 (GRCm39) |
N683I |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,710,375 (GRCm39) |
V1535A |
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,836,193 (GRCm39) |
|
probably null |
Het |
| Cep135 |
T |
C |
5: 76,788,844 (GRCm39) |
|
probably null |
Het |
| Chd9 |
T |
A |
8: 91,659,206 (GRCm39) |
H55Q |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,275,049 (GRCm39) |
T2915I |
probably benign |
Het |
| Eps8l1 |
A |
T |
7: 4,472,932 (GRCm39) |
D118V |
probably damaging |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Galnt2 |
C |
T |
8: 125,063,356 (GRCm39) |
H359Y |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 941,687 (GRCm39) |
V1296A |
possibly damaging |
Het |
| Kif27 |
T |
A |
13: 58,468,029 (GRCm39) |
K849N |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,634,377 (GRCm39) |
D736E |
probably benign |
Het |
| Krt18 |
T |
C |
15: 101,939,735 (GRCm39) |
I311T |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 153,041,945 (GRCm39) |
V63D |
possibly damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,770,959 (GRCm39) |
C295* |
probably null |
Het |
| Lrrc37 |
T |
C |
11: 103,436,622 (GRCm39) |
H754R |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,116,126 (GRCm39) |
Q767H |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,671,425 (GRCm39) |
K203E |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,857,736 (GRCm39) |
L126F |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,726,409 (GRCm39) |
H35Q |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,440,183 (GRCm39) |
N412D |
probably benign |
Het |
| Ndst2 |
T |
C |
14: 20,780,132 (GRCm39) |
Y36C |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,964,154 (GRCm39) |
I1246T |
probably damaging |
Het |
| Or5d47 |
T |
C |
2: 87,804,431 (GRCm39) |
T193A |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,877,426 (GRCm39) |
I200T |
possibly damaging |
Het |
| Patl1 |
T |
C |
19: 11,897,737 (GRCm39) |
V108A |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,594 (GRCm39) |
E1847G |
probably damaging |
Het |
| Pla2g2f |
C |
T |
4: 138,481,579 (GRCm39) |
V57I |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,613,697 (GRCm39) |
V1083A |
probably damaging |
Het |
| Slc3a2 |
C |
T |
19: 8,685,319 (GRCm39) |
W227* |
probably null |
Het |
| Snx9 |
A |
G |
17: 5,970,402 (GRCm39) |
I379M |
probably benign |
Het |
| Spata31e4 |
T |
G |
13: 50,855,664 (GRCm39) |
V434G |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,225,795 (GRCm39) |
K846E |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,946,155 (GRCm39) |
V326E |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,612,748 (GRCm39) |
S462F |
possibly damaging |
Het |
| Trim66 |
C |
T |
7: 109,054,440 (GRCm39) |
V1257I |
probably damaging |
Het |
| Urb2 |
T |
C |
8: 124,756,173 (GRCm39) |
Y627H |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,727,408 (GRCm39) |
L1058P |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGCAGACCCAGGTGTGTGATG -3'
(R):5'- GGCCTTTAACCACATGATGGCAGAC -3'
Sequencing Primer
(F):5'- CAGACTGGCTGCTGGTTC -3'
(R):5'- TGATGGCAGACAGCACAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation