Incidental Mutation 'R3770:Wdr25'
ID |
273235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr25
|
Ensembl Gene |
ENSMUSG00000040877 |
Gene Name |
WD repeat domain 25 |
Synonyms |
B930090D16Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.932)
|
Stock # |
R3770 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
108860155-108994380 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 108864346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 164
(V164M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129855
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047115]
[ENSMUST00000109848]
[ENSMUST00000160477]
[ENSMUST00000162748]
[ENSMUST00000167816]
[ENSMUST00000220495]
[ENSMUST00000220667]
[ENSMUST00000221377]
|
AlphaFold |
E9Q349 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047115
AA Change: V164M
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035553 Gene: ENSMUSG00000040877 AA Change: V164M
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: ENSMUST00000109848
|
SMART Domains |
Protein: ENSMUSP00000105474 Gene: ENSMUSG00000021266
Domain | Start | End | E-Value | Type |
WHEP-TRS
|
16 |
72 |
3.01e-23 |
SMART |
Pfam:tRNA-synt_1b
|
155 |
447 |
5.8e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160477
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162748
|
SMART Domains |
Protein: ENSMUSP00000125102 Gene: ENSMUSG00000021266
Domain | Start | End | E-Value | Type |
PDB:2QUK|A
|
4 |
37 |
1e-8 |
PDB |
SCOP:d1fyja_
|
14 |
37 |
8e-7 |
SMART |
Blast:WHEP
|
16 |
37 |
3e-7 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167816
AA Change: V164M
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129855 Gene: ENSMUSG00000040877 AA Change: V164M
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220667
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221377
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox1 |
T |
C |
11: 116,065,213 (GRCm39) |
D578G |
probably damaging |
Het |
Adgrb1 |
T |
A |
15: 74,460,157 (GRCm39) |
I543N |
probably damaging |
Het |
Agbl1 |
T |
C |
7: 76,075,677 (GRCm39) |
|
probably null |
Het |
Ano1 |
A |
G |
7: 144,149,306 (GRCm39) |
Y852H |
probably damaging |
Het |
Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
Atp1a1 |
T |
C |
3: 101,488,510 (GRCm39) |
D842G |
probably benign |
Het |
Brd7 |
A |
T |
8: 89,066,035 (GRCm39) |
|
probably null |
Het |
Btbd7 |
G |
A |
12: 102,761,451 (GRCm39) |
P578L |
probably damaging |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cfap54 |
C |
T |
10: 92,714,398 (GRCm39) |
M2660I |
unknown |
Het |
Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,391,989 (GRCm39) |
D410G |
probably benign |
Het |
Foxk2 |
CGGGGGG |
CGGGGGGGGG |
11: 121,151,317 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,814,755 (GRCm39) |
I2703V |
probably benign |
Het |
Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
Iqcg |
G |
A |
16: 32,870,378 (GRCm39) |
|
silent |
Het |
Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
Lipo5 |
G |
T |
19: 33,445,200 (GRCm39) |
T123N |
unknown |
Het |
Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 19,900,765 (GRCm39) |
V313D |
probably damaging |
Het |
Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
Neurl1a |
T |
C |
19: 47,228,328 (GRCm39) |
L58P |
probably damaging |
Het |
Or5aq1 |
C |
T |
2: 86,966,158 (GRCm39) |
C169Y |
probably damaging |
Het |
Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
Rasal3 |
A |
T |
17: 32,611,125 (GRCm39) |
L912Q |
probably damaging |
Het |
Reln |
C |
T |
5: 22,153,564 (GRCm39) |
V2247M |
probably damaging |
Het |
Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,113,579 (GRCm39) |
R313W |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,613,115 (GRCm39) |
D825V |
probably damaging |
Het |
Slc12a3 |
A |
G |
8: 95,079,668 (GRCm39) |
H832R |
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
Sos1 |
A |
G |
17: 80,705,737 (GRCm39) |
V1278A |
probably damaging |
Het |
Sstr3 |
C |
A |
15: 78,424,577 (GRCm39) |
V57L |
probably damaging |
Het |
Tex2 |
T |
A |
11: 106,435,078 (GRCm39) |
R783W |
unknown |
Het |
Tjp2 |
A |
T |
19: 24,078,190 (GRCm39) |
I901N |
probably benign |
Het |
Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
Trim41 |
T |
C |
11: 48,699,911 (GRCm39) |
E98G |
possibly damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,589,623 (GRCm39) |
N764K |
probably damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,106,434 (GRCm39) |
I471F |
probably damaging |
Het |
Zdhhc13 |
T |
A |
7: 48,452,692 (GRCm39) |
L5M |
probably damaging |
Het |
Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTGGCCCTCAAAGGAAC -3'
(R):5'- TCTGTACTGACTGTTCAAATATGGC -3'
Sequencing Primer
(F):5'- TGGCCCTCAAAGGAACCTGATAC -3'
(R):5'- CTGGATGAACTCAGACACTGTG -3'
|
Posted On |
2015-03-25 |