Incidental Mutation 'R5395:Wdr64'
ID |
426094 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr64
|
Ensembl Gene |
ENSMUSG00000026523 |
Gene Name |
WD repeat domain 64 |
Synonyms |
4930415O10Rik, 4930511H01Rik |
MMRRC Submission |
042967-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R5395 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
175526159-175643300 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 175583164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 367
(F367I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094288]
[ENSMUST00000171939]
[ENSMUST00000194087]
|
AlphaFold |
Q9D565 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094288
AA Change: F377I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091846 Gene: ENSMUSG00000026523 AA Change: F377I
Domain | Start | End | E-Value | Type |
WD40
|
118 |
159 |
2.65e1 |
SMART |
WD40
|
162 |
200 |
2.13e1 |
SMART |
low complexity region
|
259 |
271 |
N/A |
INTRINSIC |
Blast:WD40
|
277 |
316 |
5e-19 |
BLAST |
WD40
|
323 |
361 |
2.4e-1 |
SMART |
WD40
|
365 |
404 |
8.29e-1 |
SMART |
WD40
|
407 |
449 |
1.7e2 |
SMART |
WD40
|
457 |
493 |
1.19e1 |
SMART |
WD40
|
497 |
538 |
4.55e-3 |
SMART |
WD40
|
643 |
684 |
3.31e0 |
SMART |
WD40
|
742 |
806 |
7.4e0 |
SMART |
Blast:WD40
|
811 |
851 |
7e-17 |
BLAST |
WD40
|
864 |
903 |
4.62e-4 |
SMART |
Blast:XPGN
|
921 |
964 |
9e-19 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171939
AA Change: F367I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128678 Gene: ENSMUSG00000026523 AA Change: F367I
Domain | Start | End | E-Value | Type |
WD40
|
151 |
190 |
5.73e0 |
SMART |
low complexity region
|
249 |
261 |
N/A |
INTRINSIC |
Blast:WD40
|
267 |
306 |
4e-19 |
BLAST |
WD40
|
313 |
351 |
2.4e-1 |
SMART |
WD40
|
355 |
394 |
8.29e-1 |
SMART |
WD40
|
397 |
439 |
1.7e2 |
SMART |
WD40
|
447 |
483 |
1.19e1 |
SMART |
WD40
|
487 |
528 |
4.55e-3 |
SMART |
WD40
|
633 |
674 |
3.31e0 |
SMART |
WD40
|
732 |
796 |
7.4e0 |
SMART |
Blast:WD40
|
801 |
841 |
5e-17 |
BLAST |
WD40
|
854 |
893 |
4.62e-4 |
SMART |
Blast:XPGN
|
911 |
954 |
1e-18 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194087
AA Change: F367I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141740 Gene: ENSMUSG00000026523 AA Change: F367I
Domain | Start | End | E-Value | Type |
WD40
|
151 |
190 |
3.6e-2 |
SMART |
low complexity region
|
249 |
261 |
N/A |
INTRINSIC |
Blast:WD40
|
267 |
305 |
5e-19 |
BLAST |
WD40
|
313 |
351 |
1.5e-3 |
SMART |
WD40
|
355 |
394 |
5.2e-3 |
SMART |
WD40
|
397 |
439 |
1.1e0 |
SMART |
WD40
|
447 |
483 |
7.6e-2 |
SMART |
WD40
|
487 |
528 |
2.9e-5 |
SMART |
WD40
|
633 |
674 |
2.1e-2 |
SMART |
WD40
|
732 |
796 |
4.7e-2 |
SMART |
Blast:WD40
|
801 |
841 |
6e-17 |
BLAST |
WD40
|
854 |
893 |
2.9e-6 |
SMART |
Blast:XPGN
|
911 |
954 |
1e-18 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,874,590 (GRCm39) |
I268V |
probably benign |
Het |
Actn1 |
T |
A |
12: 80,217,477 (GRCm39) |
I782F |
probably benign |
Het |
Adamdec1 |
A |
C |
14: 68,808,352 (GRCm39) |
S333A |
probably benign |
Het |
Agbl5 |
C |
A |
5: 31,047,682 (GRCm39) |
T58N |
probably damaging |
Het |
Apoo-ps |
T |
A |
13: 107,550,993 (GRCm39) |
|
noncoding transcript |
Het |
Arhgef10l |
T |
C |
4: 140,297,601 (GRCm39) |
N277S |
probably benign |
Het |
Ascc2 |
A |
G |
11: 4,609,273 (GRCm39) |
E241G |
possibly damaging |
Het |
Atp13a4 |
A |
T |
16: 29,239,706 (GRCm39) |
Y835* |
probably null |
Het |
Atp13a4 |
A |
G |
16: 29,275,422 (GRCm39) |
V354A |
possibly damaging |
Het |
Bcas3 |
T |
C |
11: 85,716,075 (GRCm39) |
S426P |
probably damaging |
Het |
Birc2 |
T |
C |
9: 7,861,175 (GRCm39) |
R48G |
probably damaging |
Het |
Cacna2d4 |
T |
C |
6: 119,248,379 (GRCm39) |
S397P |
possibly damaging |
Het |
Ccng2 |
T |
C |
5: 93,417,257 (GRCm39) |
M91T |
possibly damaging |
Het |
Clk3 |
G |
A |
9: 57,660,622 (GRCm39) |
T473M |
probably damaging |
Het |
Cog2 |
T |
A |
8: 125,271,960 (GRCm39) |
H491Q |
probably benign |
Het |
Cyp4f40 |
C |
T |
17: 32,888,827 (GRCm39) |
T202I |
probably benign |
Het |
Dennd1a |
A |
T |
2: 37,692,140 (GRCm39) |
F181I |
probably damaging |
Het |
Fcrl6 |
G |
T |
1: 172,426,287 (GRCm39) |
A170D |
possibly damaging |
Het |
Fev |
T |
C |
1: 74,921,823 (GRCm39) |
|
probably null |
Het |
Flnb |
A |
G |
14: 7,883,881 (GRCm38) |
N369S |
probably benign |
Het |
Flt3 |
A |
G |
5: 147,291,633 (GRCm39) |
F606L |
probably damaging |
Het |
Gdf9 |
T |
C |
11: 53,324,624 (GRCm39) |
V131A |
probably benign |
Het |
Gdnf |
T |
A |
15: 7,864,165 (GRCm39) |
L192Q |
probably damaging |
Het |
Gjc2 |
A |
T |
11: 59,068,315 (GRCm39) |
C56S |
possibly damaging |
Het |
Gli3 |
T |
C |
13: 15,889,535 (GRCm39) |
F550L |
probably damaging |
Het |
Gm1110 |
T |
C |
9: 26,800,928 (GRCm39) |
E422G |
probably benign |
Het |
Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
Gnb2 |
A |
G |
5: 137,526,788 (GRCm39) |
S334P |
probably damaging |
Het |
Icam2 |
A |
T |
11: 106,273,299 (GRCm39) |
|
probably null |
Het |
Inca1 |
C |
T |
11: 70,581,264 (GRCm39) |
|
probably null |
Het |
Itgb8 |
A |
C |
12: 119,134,476 (GRCm39) |
C530W |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,431,166 (GRCm39) |
D332G |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,195,455 (GRCm39) |
N234K |
probably benign |
Het |
Mcm5 |
G |
A |
8: 75,849,654 (GRCm39) |
S542N |
probably benign |
Het |
Mcm9 |
A |
T |
10: 53,414,788 (GRCm39) |
N97K |
possibly damaging |
Het |
Morc2a |
G |
A |
11: 3,638,232 (GRCm39) |
R986H |
possibly damaging |
Het |
Neu2 |
T |
A |
1: 87,524,397 (GRCm39) |
|
probably null |
Het |
Nfatc1 |
G |
A |
18: 80,679,235 (GRCm39) |
P718S |
possibly damaging |
Het |
Nol6 |
G |
A |
4: 41,118,392 (GRCm39) |
|
probably benign |
Het |
Or10j7 |
A |
T |
1: 173,011,247 (GRCm39) |
Y251* |
probably null |
Het |
Otogl |
T |
C |
10: 107,652,999 (GRCm39) |
N1118D |
probably benign |
Het |
Pcdh15 |
T |
A |
10: 74,021,119 (GRCm39) |
I111K |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,744,097 (GRCm39) |
D582G |
probably damaging |
Het |
Piwil2 |
G |
T |
14: 70,632,846 (GRCm39) |
N575K |
probably benign |
Het |
Pou4f2 |
T |
A |
8: 79,161,701 (GRCm39) |
I301F |
probably damaging |
Het |
Prkd1 |
T |
C |
12: 50,438,215 (GRCm39) |
N409S |
probably damaging |
Het |
Ptpn21 |
T |
G |
12: 98,681,376 (GRCm39) |
K86T |
probably damaging |
Het |
Raly |
T |
A |
2: 154,705,927 (GRCm39) |
|
probably null |
Het |
Rangap1 |
A |
G |
15: 81,590,647 (GRCm39) |
F482L |
probably benign |
Het |
Rapgef1 |
T |
A |
2: 29,627,977 (GRCm39) |
N1052K |
probably damaging |
Het |
Rnf169 |
A |
T |
7: 99,584,367 (GRCm39) |
|
probably null |
Het |
Sdr16c5 |
T |
C |
4: 4,016,277 (GRCm39) |
S50G |
probably benign |
Het |
Sin3a |
G |
A |
9: 57,012,957 (GRCm39) |
R612H |
probably damaging |
Het |
Six6 |
T |
A |
12: 72,988,475 (GRCm39) |
L216* |
probably null |
Het |
Slc20a1 |
A |
T |
2: 129,050,257 (GRCm39) |
N472Y |
probably damaging |
Het |
Slc35d1 |
C |
T |
4: 103,068,572 (GRCm39) |
|
probably null |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Slc7a8 |
C |
A |
14: 54,970,734 (GRCm39) |
G306* |
probably null |
Het |
Slc9a8 |
T |
A |
2: 167,309,642 (GRCm39) |
F335L |
probably damaging |
Het |
Smyd1 |
T |
G |
6: 71,196,374 (GRCm39) |
K338T |
possibly damaging |
Het |
Snd1 |
T |
A |
6: 28,526,183 (GRCm39) |
V187E |
probably damaging |
Het |
Spag9 |
T |
G |
11: 93,982,577 (GRCm39) |
|
probably null |
Het |
Tnfsf9 |
C |
A |
17: 57,412,592 (GRCm39) |
T54K |
probably benign |
Het |
Trim24 |
T |
G |
6: 37,934,679 (GRCm39) |
V798G |
probably damaging |
Het |
Tyr |
C |
A |
7: 87,121,698 (GRCm39) |
A365S |
probably damaging |
Het |
Usp43 |
T |
A |
11: 67,788,184 (GRCm39) |
|
probably null |
Het |
Vmn2r55 |
T |
C |
7: 12,385,874 (GRCm39) |
D702G |
probably damaging |
Het |
Vmn2r72 |
A |
G |
7: 85,400,105 (GRCm39) |
S315P |
possibly damaging |
Het |
Zc3h7b |
G |
A |
15: 81,656,702 (GRCm39) |
R173K |
possibly damaging |
Het |
Zfp493 |
T |
A |
13: 67,931,965 (GRCm39) |
C21* |
probably null |
Het |
Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly damaging |
Het |
Zpbp2 |
T |
A |
11: 98,449,039 (GRCm39) |
V275D |
probably damaging |
Het |
|
Other mutations in Wdr64 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00563:Wdr64
|
APN |
1 |
175,526,366 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00902:Wdr64
|
APN |
1 |
175,556,391 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01347:Wdr64
|
APN |
1 |
175,547,899 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01353:Wdr64
|
APN |
1 |
175,559,151 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01583:Wdr64
|
APN |
1 |
175,594,722 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01643:Wdr64
|
APN |
1 |
175,599,877 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01673:Wdr64
|
APN |
1 |
175,627,922 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01992:Wdr64
|
APN |
1 |
175,533,637 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02613:Wdr64
|
APN |
1 |
175,594,613 (GRCm39) |
nonsense |
probably null |
|
IGL02834:Wdr64
|
APN |
1 |
175,633,415 (GRCm39) |
splice site |
probably benign |
|
IGL03214:Wdr64
|
APN |
1 |
175,571,201 (GRCm39) |
splice site |
probably benign |
|
IGL03305:Wdr64
|
APN |
1 |
175,583,152 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03308:Wdr64
|
APN |
1 |
175,594,562 (GRCm39) |
unclassified |
probably benign |
|
PIT4418001:Wdr64
|
UTSW |
1 |
175,571,160 (GRCm39) |
nonsense |
probably null |
|
R0036:Wdr64
|
UTSW |
1 |
175,556,496 (GRCm39) |
nonsense |
probably null |
|
R0041:Wdr64
|
UTSW |
1 |
175,554,037 (GRCm39) |
nonsense |
probably null |
|
R0041:Wdr64
|
UTSW |
1 |
175,554,037 (GRCm39) |
nonsense |
probably null |
|
R0079:Wdr64
|
UTSW |
1 |
175,622,668 (GRCm39) |
missense |
probably benign |
0.02 |
R0380:Wdr64
|
UTSW |
1 |
175,597,208 (GRCm39) |
splice site |
probably benign |
|
R0486:Wdr64
|
UTSW |
1 |
175,622,769 (GRCm39) |
splice site |
probably benign |
|
R0520:Wdr64
|
UTSW |
1 |
175,553,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R0598:Wdr64
|
UTSW |
1 |
175,633,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R0711:Wdr64
|
UTSW |
1 |
175,599,751 (GRCm39) |
missense |
probably benign |
0.39 |
R0746:Wdr64
|
UTSW |
1 |
175,620,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0927:Wdr64
|
UTSW |
1 |
175,620,647 (GRCm39) |
missense |
probably damaging |
0.97 |
R0947:Wdr64
|
UTSW |
1 |
175,603,315 (GRCm39) |
missense |
probably benign |
|
R1014:Wdr64
|
UTSW |
1 |
175,583,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R1332:Wdr64
|
UTSW |
1 |
175,622,706 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1416:Wdr64
|
UTSW |
1 |
175,633,568 (GRCm39) |
missense |
probably benign |
0.01 |
R1421:Wdr64
|
UTSW |
1 |
175,594,716 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1467:Wdr64
|
UTSW |
1 |
175,603,288 (GRCm39) |
missense |
probably benign |
0.00 |
R1467:Wdr64
|
UTSW |
1 |
175,603,288 (GRCm39) |
missense |
probably benign |
0.00 |
R1796:Wdr64
|
UTSW |
1 |
175,544,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R1797:Wdr64
|
UTSW |
1 |
175,639,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R2145:Wdr64
|
UTSW |
1 |
175,594,661 (GRCm39) |
missense |
probably benign |
0.01 |
R2321:Wdr64
|
UTSW |
1 |
175,622,653 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2449:Wdr64
|
UTSW |
1 |
175,526,479 (GRCm39) |
missense |
probably benign |
|
R4049:Wdr64
|
UTSW |
1 |
175,633,422 (GRCm39) |
missense |
probably benign |
0.21 |
R4155:Wdr64
|
UTSW |
1 |
175,597,172 (GRCm39) |
missense |
probably benign |
0.03 |
R4624:Wdr64
|
UTSW |
1 |
175,599,829 (GRCm39) |
missense |
probably benign |
|
R4661:Wdr64
|
UTSW |
1 |
175,554,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R4711:Wdr64
|
UTSW |
1 |
175,626,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R4891:Wdr64
|
UTSW |
1 |
175,526,345 (GRCm39) |
unclassified |
probably benign |
|
R4925:Wdr64
|
UTSW |
1 |
175,552,268 (GRCm39) |
splice site |
probably null |
|
R4943:Wdr64
|
UTSW |
1 |
175,547,882 (GRCm39) |
missense |
probably benign |
0.01 |
R5000:Wdr64
|
UTSW |
1 |
175,553,941 (GRCm39) |
splice site |
probably null |
|
R5001:Wdr64
|
UTSW |
1 |
175,620,525 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5143:Wdr64
|
UTSW |
1 |
175,553,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R5813:Wdr64
|
UTSW |
1 |
175,639,623 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6014:Wdr64
|
UTSW |
1 |
175,633,556 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6417:Wdr64
|
UTSW |
1 |
175,553,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R6456:Wdr64
|
UTSW |
1 |
175,613,175 (GRCm39) |
critical splice donor site |
probably null |
|
R6555:Wdr64
|
UTSW |
1 |
175,547,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R6576:Wdr64
|
UTSW |
1 |
175,633,494 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6797:Wdr64
|
UTSW |
1 |
175,638,176 (GRCm39) |
critical splice donor site |
probably null |
|
R6891:Wdr64
|
UTSW |
1 |
175,533,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R6959:Wdr64
|
UTSW |
1 |
175,533,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R7205:Wdr64
|
UTSW |
1 |
175,617,499 (GRCm39) |
missense |
probably benign |
0.34 |
R7252:Wdr64
|
UTSW |
1 |
175,603,240 (GRCm39) |
missense |
probably benign |
0.00 |
R7552:Wdr64
|
UTSW |
1 |
175,613,147 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7732:Wdr64
|
UTSW |
1 |
175,617,495 (GRCm39) |
missense |
probably benign |
|
R7777:Wdr64
|
UTSW |
1 |
175,617,564 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7780:Wdr64
|
UTSW |
1 |
175,556,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R7810:Wdr64
|
UTSW |
1 |
175,559,092 (GRCm39) |
missense |
probably benign |
0.01 |
R7833:Wdr64
|
UTSW |
1 |
175,591,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R7843:Wdr64
|
UTSW |
1 |
175,639,668 (GRCm39) |
missense |
probably benign |
0.00 |
R7887:Wdr64
|
UTSW |
1 |
175,613,111 (GRCm39) |
missense |
not run |
|
R7991:Wdr64
|
UTSW |
1 |
175,554,051 (GRCm39) |
missense |
probably benign |
0.36 |
R8124:Wdr64
|
UTSW |
1 |
175,626,844 (GRCm39) |
splice site |
probably null |
|
R8129:Wdr64
|
UTSW |
1 |
175,603,154 (GRCm39) |
missense |
probably damaging |
0.96 |
R8673:Wdr64
|
UTSW |
1 |
175,633,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R8728:Wdr64
|
UTSW |
1 |
175,559,079 (GRCm39) |
missense |
probably benign |
0.01 |
R8786:Wdr64
|
UTSW |
1 |
175,636,327 (GRCm39) |
nonsense |
probably null |
|
R8822:Wdr64
|
UTSW |
1 |
175,544,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R8842:Wdr64
|
UTSW |
1 |
175,599,893 (GRCm39) |
missense |
probably benign |
0.02 |
R8887:Wdr64
|
UTSW |
1 |
175,599,850 (GRCm39) |
missense |
probably benign |
0.17 |
R9014:Wdr64
|
UTSW |
1 |
175,526,395 (GRCm39) |
missense |
probably benign |
|
R9330:Wdr64
|
UTSW |
1 |
175,554,024 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9332:Wdr64
|
UTSW |
1 |
175,599,871 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9465:Wdr64
|
UTSW |
1 |
175,618,823 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9716:Wdr64
|
UTSW |
1 |
175,622,658 (GRCm39) |
missense |
probably benign |
|
R9717:Wdr64
|
UTSW |
1 |
175,544,854 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Wdr64
|
UTSW |
1 |
175,533,551 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTAGGAAAATAGATCTAACTGAGTG -3'
(R):5'- CAGTTCCGCCAGAGAAGAA -3'
Sequencing Primer
(F):5'- TGGCCTGTAAGCACACCTGTAAG -3'
(R):5'- ATGTGACCAGGTATGCATGC -3'
|
Posted On |
2016-08-04 |