Incidental Mutation 'R4183:Wdr25'
ID |
319834 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr25
|
Ensembl Gene |
ENSMUSG00000040877 |
Gene Name |
WD repeat domain 25 |
Synonyms |
B930090D16Rik |
MMRRC Submission |
041019-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
R4183 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
108860155-108994380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 108993257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 491
(F491Y)
|
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: F491Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000035553 Gene: ENSMUSG00000040877 AA Change: F491Y
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: F491Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000129855 Gene: ENSMUSG00000040877 AA Change: F491Y
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: F139Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd11 |
T |
C |
8: 123,626,415 (GRCm39) |
I198V |
possibly damaging |
Het |
Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
Arpc2 |
T |
A |
1: 74,287,322 (GRCm39) |
N31K |
probably damaging |
Het |
Atp11a |
T |
A |
8: 12,866,990 (GRCm39) |
V139D |
possibly damaging |
Het |
Bicral |
T |
C |
17: 47,124,955 (GRCm39) |
K615E |
probably damaging |
Het |
Ccdc27 |
TTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTC |
4: 154,120,763 (GRCm39) |
|
probably benign |
Het |
Chrnb1 |
T |
C |
11: 69,677,922 (GRCm39) |
M277V |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 15,960,464 (GRCm39) |
C3317Y |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
Degs2 |
T |
C |
12: 108,658,358 (GRCm39) |
K207R |
probably damaging |
Het |
Fam167a |
T |
C |
14: 63,689,769 (GRCm39) |
V22A |
probably benign |
Het |
Fam186a |
G |
A |
15: 99,831,566 (GRCm39) |
|
probably benign |
Het |
Gprc5b |
T |
C |
7: 118,583,749 (GRCm39) |
D40G |
probably benign |
Het |
Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
Inpp5j |
A |
G |
11: 3,451,134 (GRCm39) |
I505T |
probably damaging |
Het |
Lurap1l |
G |
A |
4: 80,872,095 (GRCm39) |
S196N |
probably benign |
Het |
Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,848,346 (GRCm39) |
D632G |
probably damaging |
Het |
Mcidas |
A |
G |
13: 113,130,906 (GRCm39) |
D77G |
probably damaging |
Het |
Mdga1 |
A |
G |
17: 30,188,964 (GRCm39) |
V33A |
unknown |
Het |
Me3 |
A |
G |
7: 89,501,038 (GRCm39) |
D583G |
probably benign |
Het |
Mndal |
T |
A |
1: 173,703,337 (GRCm39) |
T23S |
possibly damaging |
Het |
Myh13 |
T |
C |
11: 67,240,436 (GRCm39) |
M780T |
possibly damaging |
Het |
Nat10 |
A |
G |
2: 103,570,158 (GRCm39) |
L395P |
probably damaging |
Het |
Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
Nbeal2 |
A |
T |
9: 110,465,743 (GRCm39) |
V876E |
probably benign |
Het |
Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
Or4a39 |
T |
C |
2: 89,236,935 (GRCm39) |
T163A |
probably benign |
Het |
Or51v8 |
T |
C |
7: 103,320,178 (GRCm39) |
Y20C |
possibly damaging |
Het |
Or8g50 |
A |
G |
9: 39,648,344 (GRCm39) |
T78A |
probably benign |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Pcsk4 |
C |
T |
10: 80,160,845 (GRCm39) |
R327Q |
probably benign |
Het |
Pkhd1 |
C |
T |
1: 20,188,031 (GRCm39) |
V3426I |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,301,488 (GRCm39) |
F687L |
possibly damaging |
Het |
Rb1 |
A |
G |
14: 73,435,966 (GRCm39) |
|
probably null |
Het |
Tfpi2 |
C |
A |
6: 3,963,926 (GRCm39) |
V51L |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,924,925 (GRCm39) |
D1143G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,541,586 (GRCm39) |
M25473T |
probably benign |
Het |
Vmn1r201 |
A |
G |
13: 22,659,022 (GRCm39) |
I79V |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
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 |
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'- CCTCAGGGTCACTAAAGATAAAGCC -3'
(R):5'- ATAGCCGAGTCACTGAAGCC -3'
Sequencing Primer
(F):5'- GTCACTAAAGATAAAGCCAGCCCTG -3'
(R):5'- GAGTCACTGAAGCCCAGCAG -3'
|
Posted On |
2015-06-10 |