Incidental Mutation 'R7616:Wdr25'
ID |
588926 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr25
|
Ensembl Gene |
ENSMUSG00000040877 |
Gene Name |
WD repeat domain 25 |
Synonyms |
B930090D16Rik |
MMRRC Submission |
045716-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.928)
|
Stock # |
R7616 (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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
A |
G |
9: 55,896,738 (GRCm39) |
F290S |
probably benign |
Het |
4931414P19Rik |
T |
C |
14: 54,823,123 (GRCm39) |
D358G |
probably damaging |
Het |
A630089N07Rik |
T |
A |
16: 97,867,410 (GRCm39) |
Q184L |
probably damaging |
Het |
Adam10 |
A |
G |
9: 70,629,993 (GRCm39) |
R142G |
possibly damaging |
Het |
Adgrb1 |
A |
G |
15: 74,420,418 (GRCm39) |
T856A |
probably damaging |
Het |
Angel1 |
A |
G |
12: 86,764,510 (GRCm39) |
S493P |
probably benign |
Het |
Arid1b |
C |
G |
17: 5,045,661 (GRCm39) |
P150A |
unknown |
Het |
Atp8b5 |
T |
A |
4: 43,370,823 (GRCm39) |
|
probably null |
Het |
Cbfa2t3 |
T |
G |
8: 123,360,076 (GRCm39) |
Q525P |
possibly damaging |
Het |
Clip4 |
T |
C |
17: 72,141,268 (GRCm39) |
Y541H |
probably benign |
Het |
Cracr2a |
C |
T |
6: 127,585,660 (GRCm39) |
Q153* |
probably null |
Het |
Dsp |
G |
T |
13: 38,375,458 (GRCm39) |
C1081F |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,078,945 (GRCm39) |
D708G |
probably benign |
Het |
Eif3d |
A |
T |
15: 77,845,886 (GRCm39) |
D378E |
probably damaging |
Het |
Etv1 |
T |
A |
12: 38,915,605 (GRCm39) |
M424K |
probably damaging |
Het |
Fam120b |
T |
G |
17: 15,623,098 (GRCm39) |
S359A |
possibly damaging |
Het |
Ffar2 |
A |
G |
7: 30,519,357 (GRCm39) |
L61P |
probably damaging |
Het |
Grm5 |
A |
T |
7: 87,765,409 (GRCm39) |
D879V |
probably benign |
Het |
Itpr3 |
C |
A |
17: 27,307,951 (GRCm39) |
A246E |
probably damaging |
Het |
Kmt2b |
G |
T |
7: 30,281,633 (GRCm39) |
P1207Q |
probably damaging |
Het |
Mamdc2 |
T |
A |
19: 23,328,168 (GRCm39) |
Y400F |
probably damaging |
Het |
Mtcl3 |
T |
C |
10: 29,022,574 (GRCm39) |
|
probably benign |
Het |
Muc4 |
T |
A |
16: 32,574,161 (GRCm39) |
Y746* |
probably null |
Het |
Mylk |
T |
C |
16: 34,699,927 (GRCm39) |
F430S |
probably damaging |
Het |
Nek10 |
G |
A |
14: 14,937,759 (GRCm38) |
C826Y |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,275,092 (GRCm39) |
F51Y |
probably damaging |
Het |
Or10ag55-ps1 |
T |
C |
2: 87,115,617 (GRCm39) |
*328Q |
probably null |
Het |
Phf2 |
T |
A |
13: 48,961,083 (GRCm39) |
Y869F |
unknown |
Het |
Psmb7 |
T |
C |
2: 38,523,976 (GRCm39) |
Y133C |
possibly damaging |
Het |
Ptcd2 |
G |
A |
13: 99,481,207 (GRCm39) |
|
probably benign |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
Slc2a2 |
A |
G |
3: 28,781,260 (GRCm39) |
T433A |
probably benign |
Het |
Snap91 |
T |
A |
9: 86,721,674 (GRCm39) |
N55I |
probably damaging |
Het |
Stat4 |
A |
T |
1: 52,053,037 (GRCm39) |
K73* |
probably null |
Het |
Sult2a5 |
G |
A |
7: 13,404,607 (GRCm39) |
M281I |
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,794,084 (GRCm39) |
M647K |
possibly damaging |
Het |
Trim66 |
T |
A |
7: 109,082,956 (GRCm39) |
D162V |
probably damaging |
Het |
Vangl1 |
A |
T |
3: 102,091,381 (GRCm39) |
I235N |
probably damaging |
Het |
Vmn1r175 |
T |
A |
7: 23,508,031 (GRCm39) |
I199F |
possibly damaging |
Het |
Vmn1r72 |
A |
G |
7: 11,404,272 (GRCm39) |
S59P |
probably damaging |
Het |
Zfand2a |
A |
T |
5: 139,464,321 (GRCm39) |
N61K |
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 |
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'- GTGGCGTGTGAACATTTCCC -3'
(R):5'- CTCTCATAGAAAGGCTGGCC -3'
Sequencing Primer
(F):5'- TCCCCTTTAAAATACTTGTGACATG -3'
(R):5'- TGCACTGAGTACACAGCTTAGTCAG -3'
|
Posted On |
2019-10-24 |