Incidental Mutation 'R1276:Wdr24'
| ID |
150913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr24
|
| Ensembl Gene |
ENSMUSG00000025737 |
| Gene Name |
WD repeat domain 24 |
| Synonyms |
|
| MMRRC Submission |
039342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1276 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26042601-26047704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26046441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 538
(Y538C)
|
| 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: Y538C
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
AA Change: Y538C
| 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: ENSMUST00000180868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160275
|
| 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: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
C |
A |
8: 27,609,852 (GRCm39) |
A660D |
probably damaging |
Het |
| Ccdc82 |
A |
T |
9: 13,281,903 (GRCm39) |
I443F |
probably benign |
Het |
| Cct4 |
C |
T |
11: 22,952,171 (GRCm39) |
L391F |
probably damaging |
Het |
| Cep63 |
A |
T |
9: 102,466,099 (GRCm39) |
D642E |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,191 (GRCm39) |
L1424Q |
probably damaging |
Het |
| Cox4i1 |
A |
G |
8: 121,400,089 (GRCm39) |
Y71C |
probably damaging |
Het |
| Cyp2c69 |
T |
A |
19: 39,864,668 (GRCm39) |
Q270L |
possibly damaging |
Het |
| Egln2 |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
7: 26,864,430 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
A |
G |
15: 85,113,791 (GRCm39) |
D175G |
probably damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gm9847 |
A |
G |
12: 14,544,932 (GRCm39) |
|
noncoding transcript |
Het |
| Hdlbp |
A |
T |
1: 93,348,823 (GRCm39) |
S576T |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,298,576 (GRCm39) |
N296S |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,833 (GRCm39) |
V2379E |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,588 (GRCm39) |
I162N |
probably benign |
Het |
| Mydgf |
A |
G |
17: 56,486,362 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,822 (GRCm39) |
D632G |
probably benign |
Het |
| Ska3 |
T |
C |
14: 58,057,726 (GRCm39) |
M209V |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,080,787 (GRCm39) |
E308G |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,624,996 (GRCm39) |
T131M |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,685,025 (GRCm39) |
S156T |
probably benign |
Het |
| Svs5 |
T |
A |
2: 164,079,168 (GRCm39) |
Q246H |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,987,963 (GRCm39) |
|
probably null |
Het |
| Tbc1d9b |
T |
A |
11: 50,043,476 (GRCm39) |
H532Q |
possibly damaging |
Het |
| Tcf21 |
G |
A |
10: 22,695,489 (GRCm39) |
T105I |
probably damaging |
Het |
| Thsd7a |
C |
A |
6: 12,418,369 (GRCm39) |
C620F |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,031 (GRCm39) |
Y216C |
probably damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,344 (GRCm39) |
S356G |
possibly damaging |
Het |
| Wasf1 |
T |
A |
10: 40,812,522 (GRCm39) |
I437N |
unknown |
Het |
| Zbtb4 |
G |
T |
11: 69,667,045 (GRCm39) |
D117Y |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,605,699 (GRCm39) |
F293L |
probably damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,719,788 (GRCm39) |
E158G |
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 |
|
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'- GCTCATGAACAGGTAGATCCTTGGC -3'
(R):5'- TGGCAGCACATATTCAGGCTCCTC -3'
Sequencing Primer
(F):5'- GAACAGGTAGATCCTTGGCTACTTC -3'
(R):5'- TGGGAGGCAGGGGTGAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation