Incidental Mutation 'R6106:Wdr24'
| ID |
485531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr24
|
| Ensembl Gene |
ENSMUSG00000025737 |
| Gene Name |
WD repeat domain 24 |
| Synonyms |
|
| MMRRC Submission |
044256-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6106 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26042601-26047704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26043579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 134
(H134Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026833
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026832]
[ENSMUST00000026833]
[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: H134Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
AA Change: H134Y
| 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: 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 |
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: ENSMUST00000143296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160829
|
| 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 |
|
| Meta Mutation Damage Score |
0.0711 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,879,838 (GRCm39) |
E726G |
probably damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,246,622 (GRCm39) |
I641V |
possibly damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,931 (GRCm39) |
R336* |
probably null |
Het |
| Bfsp2 |
T |
A |
9: 103,357,023 (GRCm39) |
T135S |
probably benign |
Het |
| Calhm2 |
A |
T |
19: 47,121,501 (GRCm39) |
Y223N |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,775,325 (GRCm39) |
E960G |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,917,073 (GRCm39) |
S610P |
probably benign |
Het |
| Cdon |
T |
A |
9: 35,366,704 (GRCm39) |
Y193* |
probably null |
Het |
| Cept1 |
A |
T |
3: 106,410,992 (GRCm39) |
H400Q |
probably benign |
Het |
| Cfap144 |
T |
C |
11: 58,687,427 (GRCm39) |
E66G |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,484,434 (GRCm39) |
N1197K |
probably benign |
Het |
| Cnot8 |
T |
C |
11: 58,004,816 (GRCm39) |
S172P |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,383,404 (GRCm39) |
I1794T |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,652,493 (GRCm39) |
T1105A |
possibly damaging |
Het |
| Fam193a |
A |
T |
5: 34,616,374 (GRCm39) |
T564S |
possibly damaging |
Het |
| Galnt1 |
G |
A |
18: 24,387,720 (GRCm39) |
V154I |
probably benign |
Het |
| Gstcd |
C |
A |
3: 132,704,675 (GRCm39) |
E526D |
probably benign |
Het |
| Ighv1-42 |
A |
C |
12: 114,900,907 (GRCm39) |
S59R |
probably benign |
Het |
| Morn3 |
A |
G |
5: 123,184,823 (GRCm39) |
C6R |
possibly damaging |
Het |
| Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
| Or2aj4 |
A |
G |
16: 19,385,009 (GRCm39) |
L208P |
probably damaging |
Het |
| Or51ai2 |
A |
G |
7: 103,587,400 (GRCm39) |
H271R |
probably benign |
Het |
| Or8b36 |
T |
A |
9: 37,937,762 (GRCm39) |
I220N |
probably damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,252 (GRCm39) |
M245T |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,056 (GRCm39) |
N462S |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,825 (GRCm39) |
D359Y |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,299 (GRCm39) |
V34A |
probably benign |
Het |
| Pigu |
A |
T |
2: 155,139,116 (GRCm39) |
I313N |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Psg16 |
T |
A |
7: 16,829,091 (GRCm39) |
F225Y |
possibly damaging |
Het |
| Setdb2 |
T |
A |
14: 59,660,898 (GRCm39) |
K82* |
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,101,825 (GRCm39) |
S394P |
possibly damaging |
Het |
| Slc16a1 |
T |
C |
3: 104,560,310 (GRCm39) |
L205P |
probably benign |
Het |
| Slc19a1 |
T |
A |
10: 76,880,603 (GRCm39) |
I380N |
probably damaging |
Het |
| Snx32 |
A |
G |
19: 5,548,042 (GRCm39) |
I131T |
probably benign |
Het |
| Sorbs3 |
T |
C |
14: 70,430,053 (GRCm39) |
|
probably null |
Het |
| Stc2 |
T |
A |
11: 31,310,392 (GRCm39) |
I215L |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,230,302 (GRCm39) |
A84T |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,902,911 (GRCm39) |
M133T |
probably benign |
Het |
| Usp43 |
A |
G |
11: 67,770,733 (GRCm39) |
S634P |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,661,749 (GRCm39) |
R689* |
probably null |
Het |
| Vmn2r9 |
C |
T |
5: 108,992,902 (GRCm39) |
R536Q |
probably benign |
Het |
| Zfhx2 |
T |
A |
14: 55,305,767 (GRCm39) |
|
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,725 (GRCm39) |
K349E |
probably damaging |
Het |
| Zfp608 |
G |
T |
18: 55,120,944 (GRCm39) |
H214Q |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,184,558 (GRCm39) |
V196A |
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 |
|
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 |
|
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'- AGCAGTTCGTAGAGAAGCTG -3'
(R):5'- CTCTGATGGACACACATTTCAGC -3'
Sequencing Primer
(F):5'- CTCAACCTGAGCTGTGCTGATG -3'
(R):5'- GACACACATTTCAGCCTGCCTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation