Incidental Mutation 'R5246:Wdr25'
| ID |
401160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr25
|
| Ensembl Gene |
ENSMUSG00000040877 |
| Gene Name |
WD repeat domain 25 |
| Synonyms |
B930090D16Rik |
| MMRRC Submission |
042817-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R5246 (G1)
|
| Quality Score |
180 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
108860155-108994380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108993382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 533
(I533V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047115]
[ENSMUST00000167816]
[ENSMUST00000190647]
[ENSMUST00000209829]
[ENSMUST00000221510]
|
| AlphaFold |
E9Q349 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047115
AA Change: I533V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000035553
Gene: ENSMUSG00000040877
AA Change: I533V
| 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 benign
Transcript: ENSMUST00000167816
AA Change: I533V
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129855
Gene: ENSMUSG00000040877
AA Change: I533V
| 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 benign
Transcript: ENSMUST00000190647
|
| SMART Domains |
Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
18 |
132 |
2e-4 |
SMART |
|
low complexity region
|
285 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221510
AA Change: I181V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,302,509 (GRCm39) |
Y968F |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,102,199 (GRCm39) |
R1299Q |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,803,757 (GRCm39) |
P2138S |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,846,913 (GRCm39) |
|
probably null |
Het |
| Cep55 |
T |
A |
19: 38,058,119 (GRCm39) |
D237E |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,525,434 (GRCm39) |
S503T |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,079,671 (GRCm39) |
Y25C |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,156,410 (GRCm39) |
T444I |
possibly damaging |
Het |
| Epb41l4b |
G |
T |
4: 57,040,989 (GRCm39) |
N491K |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,065 (GRCm39) |
|
probably benign |
Het |
| Lrcol1 |
A |
C |
5: 110,502,377 (GRCm39) |
E84D |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 41,360,952 (GRCm39) |
|
probably null |
Het |
| Mup5 |
T |
A |
4: 61,752,874 (GRCm39) |
I50L |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,612,212 (GRCm39) |
K1286* |
probably null |
Het |
| Pramel22 |
G |
T |
4: 143,382,127 (GRCm39) |
P190T |
probably benign |
Het |
| Prss46 |
T |
A |
9: 110,679,102 (GRCm39) |
V101D |
probably damaging |
Het |
| Rint1 |
T |
A |
5: 24,005,809 (GRCm39) |
W164R |
probably damaging |
Het |
| Rnf139 |
G |
A |
15: 58,771,552 (GRCm39) |
V526I |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,140 (GRCm39) |
D491V |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,036 (GRCm39) |
T790A |
possibly damaging |
Het |
| Scn8a |
T |
C |
15: 100,908,938 (GRCm39) |
L802P |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,936,646 (GRCm39) |
E435G |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,100,317 (GRCm39) |
T1449K |
possibly damaging |
Het |
| Septin7 |
T |
A |
9: 25,210,832 (GRCm39) |
L289M |
probably damaging |
Het |
| Spry1 |
A |
G |
3: 37,696,916 (GRCm39) |
Y53C |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tmcc1 |
A |
G |
6: 116,020,381 (GRCm39) |
V142A |
probably damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,486,251 (GRCm39) |
T346P |
probably benign |
Het |
| Zfp292 |
A |
C |
4: 34,805,842 (GRCm39) |
Y2401D |
possibly 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 |
|
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 |
|
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'- ATCATGATCCCTCACAGGTAGC -3'
(R):5'- TTACTGATTGCGTGTCACCC -3'
Sequencing Primer
(F):5'- AGTGTTCCCCATGTGGTGACC -3'
(R):5'- ATTGCGTGTCACCCACCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation