Incidental Mutation 'R1402:Wdr25'
| ID |
188575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr25
|
| Ensembl Gene |
ENSMUSG00000040877 |
| Gene Name |
WD repeat domain 25 |
| Synonyms |
B930090D16Rik |
| MMRRC Submission |
039464-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R1402 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
108860155-108994380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108992465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 459
(E459K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047115]
[ENSMUST00000167816]
[ENSMUST00000221510]
|
| AlphaFold |
E9Q349 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047115
AA Change: E459K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035553
Gene: ENSMUSG00000040877
AA Change: E459K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
206 |
N/A |
INTRINSIC |
|
WD40
|
226 |
268 |
1.83e-7 |
SMART |
|
WD40
|
272 |
311 |
6.73e-6 |
SMART |
|
WD40
|
312 |
353 |
2.58e-1 |
SMART |
|
Blast:WD40
|
356 |
402 |
7e-11 |
BLAST |
|
Blast:WD40
|
407 |
445 |
6e-8 |
BLAST |
|
WD40
|
451 |
492 |
9.6e-2 |
SMART |
|
WD40
|
495 |
535 |
3e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167816
AA Change: E459K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129855
Gene: ENSMUSG00000040877
AA Change: E459K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
206 |
N/A |
INTRINSIC |
|
WD40
|
226 |
268 |
1.83e-7 |
SMART |
|
WD40
|
272 |
311 |
6.73e-6 |
SMART |
|
WD40
|
312 |
353 |
2.58e-1 |
SMART |
|
Blast:WD40
|
356 |
402 |
7e-11 |
BLAST |
|
Blast:WD40
|
407 |
445 |
6e-8 |
BLAST |
|
WD40
|
451 |
492 |
9.6e-2 |
SMART |
|
WD40
|
495 |
535 |
3e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221510
AA Change: E107K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp8 |
T |
A |
7: 123,065,862 (GRCm39) |
V219E |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 75,004,528 (GRCm39) |
|
probably benign |
Het |
| Bves |
C |
T |
10: 45,223,961 (GRCm39) |
T207M |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,226,676 (GRCm39) |
S409G |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,125,757 (GRCm39) |
T607I |
probably benign |
Het |
| H2-T22 |
A |
T |
17: 36,351,161 (GRCm39) |
I307N |
possibly damaging |
Het |
| Itih3 |
T |
C |
14: 30,630,665 (GRCm39) |
D882G |
probably damaging |
Het |
| Kmt5c |
G |
T |
7: 4,745,252 (GRCm39) |
R81L |
possibly damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,313,748 (GRCm39) |
|
probably benign |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Nr1i2 |
A |
G |
16: 38,073,245 (GRCm39) |
S244P |
probably damaging |
Het |
| Pcx |
A |
G |
19: 4,652,058 (GRCm39) |
D101G |
possibly damaging |
Het |
| Prkch |
T |
C |
12: 73,632,163 (GRCm39) |
V76A |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,279,533 (GRCm39) |
Y655C |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,384 (GRCm39) |
K691E |
possibly damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,863,477 (GRCm39) |
T196I |
probably damaging |
Het |
| Trappc13 |
A |
G |
13: 104,286,624 (GRCm39) |
V211A |
probably damaging |
Het |
| Vav1 |
C |
A |
17: 57,610,849 (GRCm39) |
L472I |
probably benign |
Het |
| Zdbf2 |
A |
T |
1: 63,342,786 (GRCm39) |
E388D |
possibly damaging |
Het |
| Zfp663 |
T |
C |
2: 165,195,890 (GRCm39) |
K110E |
probably benign |
Het |
| Zfp78 |
C |
A |
7: 6,381,618 (GRCm39) |
H223N |
probably damaging |
Het |
|
| Other mutations in Wdr25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00946:Wdr25
|
APN |
12 |
108,990,953 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02479:Wdr25
|
APN |
12 |
108,864,527 (GRCm39) |
missense |
probably benign |
|
|
IGL02672:Wdr25
|
APN |
12 |
108,864,007 (GRCm39) |
nonsense |
probably null |
|
|
IGL03329:Wdr25
|
APN |
12 |
108,864,262 (GRCm39) |
missense |
probably benign |
|
|
R1061:Wdr25
|
UTSW |
12 |
108,958,725 (GRCm39) |
splice site |
probably null |
|
|
R1402:Wdr25
|
UTSW |
12 |
108,992,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1582:Wdr25
|
UTSW |
12 |
108,863,980 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1764:Wdr25
|
UTSW |
12 |
108,992,364 (GRCm39) |
nonsense |
probably null |
|
|
R1954:Wdr25
|
UTSW |
12 |
108,864,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2258:Wdr25
|
UTSW |
12 |
108,864,100 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3770:Wdr25
|
UTSW |
12 |
108,864,346 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3803:Wdr25
|
UTSW |
12 |
108,864,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3948:Wdr25
|
UTSW |
12 |
108,993,208 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4183:Wdr25
|
UTSW |
12 |
108,993,257 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5246:Wdr25
|
UTSW |
12 |
108,993,382 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5290:Wdr25
|
UTSW |
12 |
108,863,968 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5305:Wdr25
|
UTSW |
12 |
108,992,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Wdr25
|
UTSW |
12 |
108,993,347 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5942:Wdr25
|
UTSW |
12 |
108,864,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6386:Wdr25
|
UTSW |
12 |
108,990,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7171:Wdr25
|
UTSW |
12 |
108,990,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7449:Wdr25
|
UTSW |
12 |
108,992,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7616:Wdr25
|
UTSW |
12 |
108,958,819 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7617:Wdr25
|
UTSW |
12 |
108,958,819 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7619:Wdr25
|
UTSW |
12 |
108,958,819 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7622:Wdr25
|
UTSW |
12 |
108,958,819 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7623:Wdr25
|
UTSW |
12 |
108,958,819 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7984:Wdr25
|
UTSW |
12 |
108,976,983 (GRCm39) |
splice site |
probably null |
|
|
R8504:Wdr25
|
UTSW |
12 |
108,992,393 (GRCm39) |
nonsense |
probably null |
|
|
R9598:Wdr25
|
UTSW |
12 |
108,864,613 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCCCCTGTGGTAGCCATCACC -3'
(R):5'- CTAGCCTCTTCCAGCTCAGCAAAG -3'
Sequencing Primer
(F):5'- GGTAGCCATCACCCCTCC -3'
(R):5'- GAGAAAAGGCTCCCAAGTCTATTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation