Incidental Mutation 'IGL03329:Wdr25'
| ID |
416814 |
| 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 # |
IGL03329
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
108860155-108994380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108864262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 136
(L136F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047115]
[ENSMUST00000109848]
[ENSMUST00000160477]
[ENSMUST00000162748]
[ENSMUST00000167816]
[ENSMUST00000220495]
[ENSMUST00000220667]
[ENSMUST00000221377]
|
| AlphaFold |
E9Q349 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047115
AA Change: L136F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035553
Gene: ENSMUSG00000040877
AA Change: L136F
| 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 benign
Transcript: ENSMUST00000167816
AA Change: L136F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129855
Gene: ENSMUSG00000040877
AA Change: L136F
| 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
AA Change: L136F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,248,047 (GRCm39) |
D2598G |
probably benign |
Het |
| Abcf2 |
T |
G |
5: 24,776,246 (GRCm39) |
|
probably null |
Het |
| Acsl1 |
T |
A |
8: 46,946,031 (GRCm39) |
C55S |
possibly damaging |
Het |
| Adam22 |
T |
A |
5: 8,199,210 (GRCm39) |
M249L |
possibly damaging |
Het |
| Alk |
A |
G |
17: 72,206,159 (GRCm39) |
|
probably benign |
Het |
| Ambn |
T |
G |
5: 88,609,527 (GRCm39) |
S78R |
probably benign |
Het |
| Apbb1ip |
T |
A |
2: 22,757,729 (GRCm39) |
V449D |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,152,883 (GRCm39) |
Y194* |
probably null |
Het |
| Cacul1 |
A |
T |
19: 60,531,489 (GRCm39) |
F260Y |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,181,081 (GRCm39) |
I2640T |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,841,108 (GRCm39) |
S1446P |
probably damaging |
Het |
| Cimap2 |
G |
T |
4: 106,464,601 (GRCm39) |
R353S |
possibly damaging |
Het |
| Clcn2 |
G |
A |
16: 20,530,902 (GRCm39) |
T276I |
probably damaging |
Het |
| Dcbld1 |
T |
G |
10: 52,195,721 (GRCm39) |
Y310D |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,696,113 (GRCm39) |
V157I |
probably damaging |
Het |
| Dennd5b |
G |
T |
6: 148,899,758 (GRCm39) |
T1213K |
possibly damaging |
Het |
| Dusp8 |
A |
T |
7: 141,638,097 (GRCm39) |
L177* |
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,367,281 (GRCm39) |
S479G |
probably benign |
Het |
| Gpbp1 |
T |
A |
13: 111,589,787 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,608,661 (GRCm39) |
Q1507L |
probably damaging |
Het |
| Inppl1 |
G |
T |
7: 101,473,587 (GRCm39) |
T1021K |
possibly damaging |
Het |
| Klk1b9 |
A |
G |
7: 43,628,838 (GRCm39) |
E114G |
probably benign |
Het |
| Klre1 |
T |
C |
6: 129,562,660 (GRCm39) |
|
probably benign |
Het |
| Lancl1 |
T |
C |
1: 67,060,209 (GRCm39) |
Y72C |
probably damaging |
Het |
| Lilra6 |
A |
G |
7: 3,917,647 (GRCm39) |
|
probably benign |
Het |
| Magi2 |
T |
C |
5: 20,671,126 (GRCm39) |
V490A |
possibly damaging |
Het |
| Myo3b |
T |
A |
2: 70,084,803 (GRCm39) |
N720K |
probably damaging |
Het |
| Or2ah1 |
A |
C |
2: 85,653,729 (GRCm39) |
D138A |
probably benign |
Het |
| Or7e166 |
T |
C |
9: 19,624,597 (GRCm39) |
V158A |
probably benign |
Het |
| Ppp2r3d |
T |
A |
9: 101,003,630 (GRCm39) |
|
probably benign |
Het |
| Rbm47 |
T |
C |
5: 66,184,036 (GRCm39) |
D189G |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,594,973 (GRCm39) |
D1941N |
probably benign |
Het |
| Sgpp2 |
T |
C |
1: 78,367,200 (GRCm39) |
I111T |
probably benign |
Het |
| Sh3bp2 |
T |
C |
5: 34,716,546 (GRCm39) |
V319A |
probably benign |
Het |
| Slc12a3 |
A |
C |
8: 95,092,519 (GRCm39) |
Q980P |
possibly damaging |
Het |
| Slc39a8 |
G |
T |
3: 135,590,474 (GRCm39) |
G389V |
probably damaging |
Het |
| Slc5a3 |
T |
C |
16: 91,874,348 (GRCm39) |
I135T |
probably damaging |
Het |
| Smu1 |
A |
G |
4: 40,739,568 (GRCm39) |
V414A |
possibly damaging |
Het |
| Tlr12 |
A |
G |
4: 128,510,645 (GRCm39) |
F535S |
possibly damaging |
Het |
| Trim47 |
A |
G |
11: 115,997,254 (GRCm39) |
V501A |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,603 (GRCm39) |
N6K |
probably damaging |
Het |
| Vwce |
G |
A |
19: 10,637,360 (GRCm39) |
C711Y |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,234,306 (GRCm39) |
Q437R |
probably benign |
Het |
| Zfp169 |
C |
A |
13: 48,644,270 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
A |
T |
7: 27,403,295 (GRCm39) |
I584F |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,808,099 (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 |
|
|
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 |
2016-08-02 |
Incidental Mutation