Incidental Mutation 'R5719:Wdr24'
| ID |
451386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr24
|
| Ensembl Gene |
ENSMUSG00000025737 |
| Gene Name |
WD repeat domain 24 |
| Synonyms |
|
| MMRRC Submission |
043339-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26042601-26047704 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 26047314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000026833
|
| SMART Domains |
Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
| 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: ENSMUST00000160349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160829
|
| 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 |
0.9356 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130051J06Rik |
C |
T |
15: 95,688,641 (GRCm39) |
|
probably benign |
Het |
| A630001G21Rik |
T |
A |
1: 85,651,106 (GRCm39) |
R110W |
probably benign |
Het |
| Abca4 |
T |
C |
3: 121,928,915 (GRCm39) |
|
probably null |
Het |
| Abcc3 |
T |
C |
11: 94,241,894 (GRCm39) |
N1379S |
probably damaging |
Het |
| Actrt3 |
A |
C |
3: 30,652,276 (GRCm39) |
F273V |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,417,217 (GRCm39) |
D75G |
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,961,805 (GRCm39) |
D2392E |
possibly damaging |
Het |
| Ash1l |
T |
C |
3: 88,965,933 (GRCm39) |
I2445T |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,164,071 (GRCm39) |
H1137Q |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,401,851 (GRCm39) |
I762V |
probably benign |
Het |
| Ccdc127 |
T |
A |
13: 74,505,187 (GRCm39) |
|
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Cdk13 |
A |
G |
13: 17,894,240 (GRCm39) |
I1129T |
probably damaging |
Het |
| Cnot1 |
C |
T |
8: 96,470,924 (GRCm39) |
R1308H |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,080,207 (GRCm39) |
H144R |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,823,891 (GRCm39) |
N993S |
possibly damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,507,761 (GRCm39) |
V1182D |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fam234a |
T |
A |
17: 26,433,627 (GRCm39) |
Q399L |
possibly damaging |
Het |
| Fyb1 |
A |
T |
15: 6,610,350 (GRCm39) |
K308* |
probably null |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm10309 |
A |
T |
17: 86,806,421 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm5501 |
G |
A |
18: 9,917,417 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6309 |
A |
T |
5: 146,104,992 (GRCm39) |
V307D |
probably benign |
Het |
| Gm9871 |
T |
A |
6: 101,773,148 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,871,528 (GRCm39) |
V70E |
possibly damaging |
Het |
| Hes7 |
A |
G |
11: 69,012,415 (GRCm39) |
E41G |
probably damaging |
Het |
| Ifi27l2b |
T |
C |
12: 103,422,046 (GRCm39) |
D106G |
unknown |
Het |
| Igfbp6 |
A |
T |
15: 102,056,616 (GRCm39) |
Y184F |
probably damaging |
Het |
| Isyna1 |
A |
G |
8: 71,047,352 (GRCm39) |
Y25C |
probably damaging |
Het |
| Kcng3 |
G |
T |
17: 83,938,563 (GRCm39) |
T162K |
possibly damaging |
Het |
| Krt36 |
T |
C |
11: 99,994,987 (GRCm39) |
D195G |
possibly damaging |
Het |
| Lrwd1 |
A |
T |
5: 136,161,093 (GRCm39) |
|
probably null |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,059,213 (GRCm39) |
E480D |
probably damaging |
Het |
| Myrf |
T |
A |
19: 10,194,087 (GRCm39) |
D690V |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,578,312 (GRCm39) |
I684M |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,781,589 (GRCm39) |
A607T |
probably damaging |
Het |
| Nuak1 |
A |
T |
10: 84,245,584 (GRCm39) |
I87N |
probably damaging |
Het |
| Odad2 |
G |
T |
18: 7,211,496 (GRCm39) |
Q793K |
probably benign |
Het |
| Or5p66 |
T |
G |
7: 107,885,599 (GRCm39) |
T245P |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,475 (GRCm39) |
|
probably null |
Het |
| Or8b4 |
A |
T |
9: 37,830,647 (GRCm39) |
E236D |
probably damaging |
Het |
| Osbpl9 |
T |
A |
4: 108,919,763 (GRCm39) |
R689* |
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
| Prss40 |
A |
T |
1: 34,591,598 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,972,839 (GRCm39) |
|
probably null |
Het |
| Rft1 |
T |
C |
14: 30,385,183 (GRCm39) |
|
probably benign |
Het |
| Rftn2 |
C |
T |
1: 55,253,445 (GRCm39) |
V53I |
probably damaging |
Het |
| Rnaset2a |
T |
C |
17: 8,350,879 (GRCm39) |
Y167C |
probably damaging |
Het |
| Schip1 |
T |
C |
3: 68,315,560 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
C |
9: 119,359,118 (GRCm39) |
L643R |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,090,877 (GRCm39) |
M1128K |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,252,257 (GRCm39) |
L18P |
probably benign |
Het |
| Slc22a3 |
C |
T |
17: 12,642,691 (GRCm39) |
V509M |
probably damaging |
Het |
| Slc7a5 |
A |
C |
8: 122,610,381 (GRCm39) |
F478V |
probably benign |
Het |
| Smc1b |
T |
A |
15: 84,980,859 (GRCm39) |
N803I |
probably benign |
Het |
| Snf8 |
T |
A |
11: 95,932,551 (GRCm39) |
N115K |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,258,429 (GRCm39) |
F41I |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,506,793 (GRCm39) |
S90G |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,703,700 (GRCm39) |
V285A |
probably damaging |
Het |
| Tsen15 |
T |
C |
1: 152,247,534 (GRCm39) |
T153A |
probably damaging |
Het |
| Usp34 |
T |
G |
11: 23,304,846 (GRCm39) |
S360A |
probably benign |
Het |
| Zbtb2 |
G |
A |
10: 4,319,456 (GRCm39) |
T190I |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,891,613 (GRCm39) |
S788G |
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 |
|
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'- TGGAAACACTAACCTGAGCC -3'
(R):5'- TGATGTGCTGAAGATGGCCAC -3'
Sequencing Primer
(F):5'- CTGGTACACATCCTACATAGATCTG -3'
(R):5'- CTGAAGATGGCCACCATGACTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation