Incidental Mutation 'R7617:Wdr25'
ID |
588970 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr25
|
Ensembl Gene |
ENSMUSG00000040877 |
Gene Name |
WD repeat domain 25 |
Synonyms |
B930090D16Rik |
MMRRC Submission |
045684-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.932)
|
Stock # |
R7617 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
108860155-108994380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 108958819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 344
(G344S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035553
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047115]
[ENSMUST00000167816]
[ENSMUST00000220495]
|
AlphaFold |
E9Q349 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047115
AA Change: G344S
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000035553 Gene: ENSMUSG00000040877 AA Change: G344S
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: G344S
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000129855 Gene: ENSMUSG00000040877 AA Change: G344S
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: ENSMUST00000220495
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
G |
7: 120,102,694 (GRCm39) |
Y864* |
probably null |
Het |
Abhd2 |
T |
C |
7: 78,998,032 (GRCm39) |
M188T |
probably benign |
Het |
Adamtsl3 |
T |
A |
7: 82,206,054 (GRCm39) |
|
probably null |
Het |
Ankrd36 |
G |
T |
11: 5,637,348 (GRCm39) |
V1306L |
probably benign |
Het |
Ankrd50 |
C |
A |
3: 38,538,831 (GRCm39) |
|
probably benign |
Het |
Btbd2 |
T |
C |
10: 80,482,226 (GRCm39) |
D258G |
probably damaging |
Het |
Cabin1 |
C |
T |
10: 75,568,277 (GRCm39) |
R75K |
possibly damaging |
Het |
Carmil3 |
A |
G |
14: 55,735,348 (GRCm39) |
N507S |
probably benign |
Het |
Cntn1 |
A |
G |
15: 92,143,970 (GRCm39) |
E311G |
probably damaging |
Het |
Csnk1a1 |
T |
C |
18: 61,718,387 (GRCm39) |
M371T |
unknown |
Het |
Dnah1 |
A |
T |
14: 31,006,739 (GRCm39) |
V2192E |
possibly damaging |
Het |
Entrep3 |
T |
A |
3: 89,092,278 (GRCm39) |
I199N |
probably damaging |
Het |
Grip2 |
A |
C |
6: 91,742,031 (GRCm39) |
|
probably null |
Het |
Gxylt2 |
G |
T |
6: 100,760,146 (GRCm39) |
W227L |
probably damaging |
Het |
Ighv6-5 |
G |
T |
12: 114,380,626 (GRCm39) |
|
probably benign |
Het |
Jak1 |
T |
A |
4: 101,031,408 (GRCm39) |
|
probably null |
Het |
Jakmip1 |
A |
G |
5: 37,328,345 (GRCm39) |
D393G |
possibly damaging |
Het |
Klf10 |
A |
T |
15: 38,297,080 (GRCm39) |
V320E |
probably damaging |
Het |
Krt87 |
A |
T |
15: 101,336,426 (GRCm39) |
C76S |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,106,701 (GRCm39) |
D1261G |
possibly damaging |
Het |
Myo18b |
A |
C |
5: 112,905,319 (GRCm39) |
|
probably null |
Het |
Or4c124 |
T |
A |
2: 89,155,723 (GRCm39) |
D267V |
probably damaging |
Het |
Oxct2a |
A |
C |
4: 123,217,150 (GRCm39) |
L77R |
probably damaging |
Het |
P2rx2 |
A |
T |
5: 110,489,950 (GRCm39) |
C172S |
probably damaging |
Het |
P3h3 |
A |
G |
6: 124,832,969 (GRCm39) |
Y195H |
probably damaging |
Het |
Pex11b |
T |
C |
3: 96,544,107 (GRCm39) |
|
probably null |
Het |
Ppm1j |
T |
A |
3: 104,691,059 (GRCm39) |
Y274* |
probably null |
Het |
Scn9a |
A |
T |
2: 66,370,893 (GRCm39) |
D562E |
possibly damaging |
Het |
Slc14a2 |
A |
G |
18: 78,203,156 (GRCm39) |
V557A |
probably benign |
Het |
Slc9b2 |
T |
C |
3: 135,042,221 (GRCm39) |
I500T |
probably damaging |
Het |
Sult2a3 |
C |
T |
7: 13,806,981 (GRCm39) |
V234I |
probably benign |
Het |
Tcp10c |
T |
G |
17: 13,576,100 (GRCm39) |
L27V |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,965,651 (GRCm39) |
D403G |
probably benign |
Het |
Tmprss13 |
G |
A |
9: 45,244,858 (GRCm39) |
W212* |
probably null |
Het |
Tspoap1 |
T |
G |
11: 87,654,451 (GRCm39) |
S244A |
probably benign |
Het |
Upb1 |
A |
C |
10: 75,260,368 (GRCm39) |
T136P |
probably benign |
Het |
Wwp1 |
T |
C |
4: 19,662,188 (GRCm39) |
T136A |
probably benign |
Het |
Zfp354a |
A |
G |
11: 50,960,751 (GRCm39) |
T320A |
probably benign |
Het |
Zfyve16 |
A |
G |
13: 92,641,070 (GRCm39) |
Y1225H |
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 |
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 |
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'- GTGGCGTGTGAACATTTCC -3'
(R):5'- TCTCTCATAGAAAGGCTGGCC -3'
Sequencing Primer
(F):5'- TCCCCTTTAAAATACTTGTGACATG -3'
(R):5'- TGCACTGAGTACACAGCTTAGTCAG -3'
|
Posted On |
2019-10-24 |