Incidental Mutation 'IGL00946:Wdr25'
ID |
28755 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdr25
|
Ensembl Gene |
ENSMUSG00000040877 |
Gene Name |
WD repeat domain 25 |
Synonyms |
B930090D16Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
IGL00946
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
108860155-108994380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 108990953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 380
(S380F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129855
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047115]
[ENSMUST00000167816]
[ENSMUST00000221510]
|
AlphaFold |
E9Q349 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047115
AA Change: S380F
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035553 Gene: ENSMUSG00000040877 AA Change: S380F
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 |
possibly damaging
Transcript: ENSMUST00000167816
AA Change: S380F
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129855 Gene: ENSMUSG00000040877 AA Change: S380F
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 |
possibly damaging
Transcript: ENSMUST00000221510
AA Change: S28F
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
T |
C |
4: 132,790,373 (GRCm39) |
I538T |
probably benign |
Het |
Bmp10 |
A |
T |
6: 87,411,344 (GRCm39) |
Q379L |
probably damaging |
Het |
Cacna2d4 |
G |
A |
6: 119,248,876 (GRCm39) |
A446T |
possibly damaging |
Het |
Chrdl1 |
G |
A |
X: 142,077,164 (GRCm39) |
|
probably benign |
Het |
Crtc2 |
A |
G |
3: 90,168,112 (GRCm39) |
H370R |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,461,434 (GRCm39) |
T698A |
probably damaging |
Het |
Deup1 |
T |
C |
9: 15,472,534 (GRCm39) |
T593A |
possibly damaging |
Het |
Dus1l |
T |
C |
11: 120,684,701 (GRCm39) |
T157A |
probably damaging |
Het |
Efcab6 |
T |
C |
15: 83,902,897 (GRCm39) |
N151S |
probably benign |
Het |
Eif2b5 |
T |
A |
16: 20,324,002 (GRCm39) |
H448Q |
probably benign |
Het |
Epha8 |
T |
C |
4: 136,673,121 (GRCm39) |
D221G |
probably damaging |
Het |
Eprs1 |
G |
A |
1: 185,139,898 (GRCm39) |
G996S |
probably benign |
Het |
Fn1 |
G |
A |
1: 71,684,699 (GRCm39) |
|
probably benign |
Het |
Gfpt1 |
A |
G |
6: 87,027,924 (GRCm39) |
Y10C |
probably damaging |
Het |
Ghitm |
C |
T |
14: 36,847,203 (GRCm39) |
M290I |
probably benign |
Het |
Gpd2 |
T |
C |
2: 57,158,096 (GRCm39) |
|
probably null |
Het |
Htr2a |
T |
A |
14: 74,943,582 (GRCm39) |
Y387* |
probably null |
Het |
Lrrc7 |
T |
A |
3: 157,866,993 (GRCm39) |
Q916L |
probably benign |
Het |
Mfsd9 |
A |
C |
1: 40,812,940 (GRCm39) |
D458E |
probably benign |
Het |
Nmb |
T |
C |
7: 80,552,208 (GRCm39) |
I123M |
probably benign |
Het |
Nrap |
A |
T |
19: 56,329,058 (GRCm39) |
|
probably null |
Het |
Or10j7 |
A |
T |
1: 173,011,190 (GRCm39) |
D270E |
probably benign |
Het |
Or4d5 |
A |
G |
9: 40,012,450 (GRCm39) |
I112T |
probably benign |
Het |
Or4k49 |
T |
A |
2: 111,495,489 (GRCm39) |
M306K |
probably benign |
Het |
Pola1 |
T |
C |
X: 92,524,145 (GRCm39) |
I1165M |
probably benign |
Het |
Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
Selenon |
T |
A |
4: 134,267,037 (GRCm39) |
|
probably benign |
Het |
Stk39 |
T |
A |
2: 68,144,908 (GRCm39) |
T389S |
possibly damaging |
Het |
Tmx3 |
A |
G |
18: 90,558,178 (GRCm39) |
E410G |
possibly damaging |
Het |
Utp20 |
A |
T |
10: 88,584,177 (GRCm39) |
V2660E |
possibly damaging |
Het |
Vps52 |
T |
C |
17: 34,175,932 (GRCm39) |
L40P |
possibly damaging |
Het |
Xpo7 |
T |
C |
14: 70,909,098 (GRCm39) |
T808A |
probably benign |
Het |
Zc3h14 |
T |
C |
12: 98,726,142 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Wdr25 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-04-17 |