Incidental Mutation 'R6386:Wdr25'
| ID |
515612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr25
|
| Ensembl Gene |
ENSMUSG00000040877 |
| Gene Name |
WD repeat domain 25 |
| Synonyms |
B930090D16Rik |
| MMRRC Submission |
044535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.932)
|
| Stock # |
R6386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
108860155-108994380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108990991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 41
(S41P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047115]
[ENSMUST00000167816]
[ENSMUST00000221510]
|
| AlphaFold |
E9Q349 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047115
AA Change: S393P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035553
Gene: ENSMUSG00000040877
AA Change: S393P
| 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: S393P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129855
Gene: ENSMUSG00000040877
AA Change: S393P
| 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: S41P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.7646 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak6 |
TGACGA |
TGA |
13: 100,792,311 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,761,865 (GRCm39) |
N1620K |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,870,825 (GRCm39) |
S396P |
probably damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,865,166 (GRCm39) |
M469T |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,892,144 (GRCm39) |
N296D |
probably benign |
Het |
| Cep57l1 |
A |
T |
10: 41,619,128 (GRCm39) |
S80T |
probably damaging |
Het |
| Clip4 |
C |
A |
17: 72,141,189 (GRCm39) |
Y514* |
probably null |
Het |
| Cop1 |
T |
C |
1: 159,116,601 (GRCm39) |
I125T |
probably damaging |
Het |
| Cstf1 |
T |
C |
2: 172,219,816 (GRCm39) |
V309A |
probably damaging |
Het |
| Cyp4a29 |
T |
G |
4: 115,104,272 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
G |
A |
2: 129,314,738 (GRCm39) |
H180Y |
probably damaging |
Het |
| Foxp4 |
T |
C |
17: 48,189,387 (GRCm39) |
K237E |
unknown |
Het |
| Fstl5 |
A |
T |
3: 76,229,373 (GRCm39) |
H58L |
probably benign |
Het |
| Gje1 |
A |
G |
10: 14,592,365 (GRCm39) |
F139S |
probably damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,991,265 (GRCm39) |
D593G |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Mtch2 |
A |
G |
2: 90,679,739 (GRCm39) |
T38A |
probably benign |
Het |
| Mvb12b |
A |
T |
2: 33,717,754 (GRCm39) |
I129N |
probably damaging |
Het |
| Npffr2 |
T |
C |
5: 89,730,556 (GRCm39) |
V162A |
probably benign |
Het |
| Or4d10b |
A |
T |
19: 12,036,920 (GRCm39) |
N65K |
probably damaging |
Het |
| Or5p61 |
A |
T |
7: 107,758,409 (GRCm39) |
Y224N |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,621,244 (GRCm39) |
R805C |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,559,364 (GRCm39) |
L406P |
probably damaging |
Het |
| Prl3d2 |
A |
G |
13: 27,311,286 (GRCm39) |
D186G |
probably damaging |
Het |
| Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
| Rnf148 |
A |
G |
6: 23,654,483 (GRCm39) |
L171P |
probably damaging |
Het |
| Rps24 |
G |
A |
14: 24,542,116 (GRCm39) |
G71S |
possibly damaging |
Het |
| Slco2a1 |
G |
A |
9: 102,954,187 (GRCm39) |
V453I |
probably benign |
Het |
| Spidr |
T |
C |
16: 15,786,424 (GRCm39) |
K440E |
probably benign |
Het |
| Syndig1 |
C |
A |
2: 149,741,496 (GRCm39) |
N27K |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,829,595 (GRCm39) |
T316I |
probably benign |
Het |
| Tpgs2 |
A |
T |
18: 25,272,081 (GRCm39) |
I258N |
possibly damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,571,545 (GRCm39) |
R452* |
probably null |
Het |
| Wasf3 |
A |
T |
5: 146,390,227 (GRCm39) |
I124F |
possibly damaging |
Het |
| Wbp11 |
T |
C |
6: 136,797,523 (GRCm39) |
T299A |
probably benign |
Het |
| Zfp874b |
T |
C |
13: 67,622,962 (GRCm39) |
D116G |
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 |
|
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 |
|
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'- GAGTACTACCTAACACTCCTTGGC -3'
(R):5'- ACCTGACCTATGACTACCCCTG -3'
Sequencing Primer
(F):5'- CTTTCCCTGGGTGAGCAC -3'
(R):5'- ATGACTACCCCTGTCCTAGATAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation