Incidental Mutation 'R7154:Wdr59'
ID |
557148 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr59
|
Ensembl Gene |
ENSMUSG00000031959 |
Gene Name |
WD repeat domain 59 |
Synonyms |
5430401O09Rik |
MMRRC Submission |
045256-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7154 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
112175429-112248724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 112185367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 874
(N874K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034437]
[ENSMUST00000038193]
[ENSMUST00000211981]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000034437 Gene: ENSMUSG00000031959 AA Change: N874K
Domain | Start | End | E-Value | Type |
WD40
|
41 |
91 |
1.37e2 |
SMART |
WD40
|
94 |
134 |
9.52e-6 |
SMART |
WD40
|
138 |
176 |
4.46e-1 |
SMART |
WD40
|
180 |
220 |
2.59e-7 |
SMART |
WD40
|
271 |
315 |
8.59e-1 |
SMART |
RWD
|
393 |
494 |
4.13e-14 |
SMART |
low complexity region
|
620 |
632 |
N/A |
INTRINSIC |
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
Blast:RING
|
941 |
980 |
3e-10 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038193
AA Change: N855K
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000043671 Gene: ENSMUSG00000031959 AA Change: N855K
Domain | Start | End | E-Value | Type |
WD40
|
41 |
91 |
1.37e2 |
SMART |
WD40
|
94 |
134 |
9.52e-6 |
SMART |
WD40
|
138 |
176 |
4.46e-1 |
SMART |
WD40
|
180 |
220 |
2.59e-7 |
SMART |
WD40
|
271 |
315 |
8.59e-1 |
SMART |
RWD
|
393 |
494 |
4.13e-14 |
SMART |
low complexity region
|
803 |
814 |
N/A |
INTRINSIC |
Pfam:Zn_ribbon_17
|
937 |
992 |
2e-14 |
PFAM |
Pfam:zinc_ribbon_16
|
949 |
990 |
1.6e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211981
AA Change: N872K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
Meta Mutation Damage Score |
0.1254 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
8030423J24Rik |
T |
C |
13: 71,032,344 (GRCm39) |
F139L |
unknown |
Het |
Adgre1 |
G |
A |
17: 57,751,087 (GRCm39) |
|
probably null |
Het |
Agap2 |
A |
G |
10: 126,927,524 (GRCm39) |
D1135G |
probably benign |
Het |
Akp3 |
T |
C |
1: 87,052,946 (GRCm39) |
L45P |
probably damaging |
Het |
Arfgap3 |
A |
T |
15: 83,220,905 (GRCm39) |
W71R |
probably damaging |
Het |
Asic3 |
G |
A |
5: 24,618,660 (GRCm39) |
|
probably benign |
Het |
Asph |
A |
T |
4: 9,630,930 (GRCm39) |
N139K |
possibly damaging |
Het |
Atr |
T |
A |
9: 95,747,098 (GRCm39) |
C127S |
probably benign |
Het |
Auts2 |
A |
T |
5: 131,480,731 (GRCm39) |
S255T |
|
Het |
Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
Cacnb1 |
A |
G |
11: 97,895,959 (GRCm39) |
L443P |
probably damaging |
Het |
Cbfa2t3 |
G |
A |
8: 123,364,883 (GRCm39) |
Q300* |
probably null |
Het |
Ccer1 |
A |
T |
10: 97,530,201 (GRCm39) |
D288V |
unknown |
Het |
Col18a1 |
G |
A |
10: 76,908,799 (GRCm39) |
P611S |
probably benign |
Het |
Cpa6 |
T |
A |
1: 10,407,694 (GRCm39) |
D281V |
possibly damaging |
Het |
Cyp2e1 |
A |
G |
7: 140,350,050 (GRCm39) |
Y245C |
probably damaging |
Het |
Cyp4a31 |
T |
C |
4: 115,431,963 (GRCm39) |
|
probably null |
Het |
Efcab3 |
T |
A |
11: 104,589,966 (GRCm39) |
|
probably null |
Het |
Entpd1 |
T |
C |
19: 40,713,430 (GRCm39) |
Y188H |
probably damaging |
Het |
Epb42 |
T |
C |
2: 120,863,843 (GRCm39) |
D111G |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,232,484 (GRCm39) |
D2064G |
probably damaging |
Het |
Fat3 |
A |
C |
9: 15,908,160 (GRCm39) |
V2614G |
probably damaging |
Het |
Fos |
A |
T |
12: 85,520,931 (GRCm39) |
M40L |
probably benign |
Het |
Frmd4b |
T |
A |
6: 97,283,707 (GRCm39) |
E434V |
probably damaging |
Het |
Galnt6 |
A |
T |
15: 100,591,345 (GRCm39) |
D586E |
probably benign |
Het |
Gapvd1 |
T |
C |
2: 34,615,075 (GRCm39) |
K474R |
probably damaging |
Het |
Gimap8 |
T |
A |
6: 48,633,122 (GRCm39) |
F314I |
probably damaging |
Het |
Gm14393 |
T |
G |
2: 174,903,576 (GRCm39) |
K110N |
probably damaging |
Het |
Gm4131 |
C |
A |
14: 62,718,382 (GRCm39) |
A75S |
probably damaging |
Het |
Heatr6 |
G |
A |
11: 83,668,067 (GRCm39) |
V854I |
probably benign |
Het |
Hic2 |
T |
A |
16: 17,076,806 (GRCm39) |
M545K |
possibly damaging |
Het |
Ift70b |
C |
T |
2: 75,768,405 (GRCm39) |
R116H |
possibly damaging |
Het |
Ip6k1 |
A |
G |
9: 107,922,861 (GRCm39) |
Y331C |
probably damaging |
Het |
Kalrn |
C |
T |
16: 34,032,527 (GRCm39) |
|
probably null |
Het |
Kxd1 |
T |
C |
8: 70,968,084 (GRCm39) |
K88E |
probably damaging |
Het |
Lrrc37a |
A |
C |
11: 103,393,682 (GRCm39) |
V581G |
probably benign |
Het |
Mex3d |
A |
T |
10: 80,222,584 (GRCm39) |
V224E |
|
Het |
Mtx2 |
T |
A |
2: 74,706,762 (GRCm39) |
C246S |
probably damaging |
Het |
Mybbp1a |
A |
G |
11: 72,338,468 (GRCm39) |
|
probably null |
Het |
Myh6 |
A |
G |
14: 55,197,764 (GRCm39) |
I458T |
probably benign |
Het |
Ndufs6 |
A |
G |
13: 73,468,411 (GRCm39) |
V96A |
possibly damaging |
Het |
Nemf |
A |
T |
12: 69,363,515 (GRCm39) |
|
probably null |
Het |
Notch1 |
T |
C |
2: 26,349,950 (GRCm39) |
S2397G |
probably benign |
Het |
Or4c15b |
A |
G |
2: 89,113,204 (GRCm39) |
I91T |
probably damaging |
Het |
Or6ae1 |
T |
C |
7: 139,741,997 (GRCm39) |
I289V |
probably benign |
Het |
Osbpl1a |
T |
C |
18: 12,901,649 (GRCm39) |
E619G |
probably benign |
Het |
Pfkl |
T |
C |
10: 77,837,289 (GRCm39) |
R95G |
probably benign |
Het |
Plat |
T |
A |
8: 23,268,521 (GRCm39) |
I391K |
possibly damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,862,314 (GRCm39) |
H244R |
probably damaging |
Het |
Rapgef3 |
G |
C |
15: 97,651,758 (GRCm39) |
H578Q |
probably benign |
Het |
Rnf145 |
C |
A |
11: 44,415,822 (GRCm39) |
N12K |
probably damaging |
Het |
Sfxn5 |
C |
T |
6: 85,309,405 (GRCm39) |
C100Y |
unknown |
Het |
Sh3rf1 |
T |
A |
8: 61,825,748 (GRCm39) |
L581Q |
possibly damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,195,078 (GRCm39) |
K887E |
probably benign |
Het |
Spopfm2 |
A |
G |
3: 94,083,526 (GRCm39) |
I95T |
probably benign |
Het |
Stard9 |
C |
A |
2: 120,531,795 (GRCm39) |
T2684N |
probably benign |
Het |
Stard9 |
A |
C |
2: 120,535,023 (GRCm39) |
Q3760P |
probably benign |
Het |
Stpg2 |
A |
G |
3: 138,921,056 (GRCm39) |
E87G |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,106,231 (GRCm39) |
Q792R |
possibly damaging |
Het |
Taf7 |
T |
C |
18: 37,775,601 (GRCm39) |
D322G |
possibly damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,331,156 (GRCm39) |
S112G |
possibly damaging |
Het |
Tbx3 |
A |
G |
5: 119,810,093 (GRCm39) |
M5V |
possibly damaging |
Het |
Tmem45b |
A |
T |
9: 31,339,328 (GRCm39) |
I215N |
possibly damaging |
Het |
Tpd52 |
G |
A |
3: 9,028,916 (GRCm39) |
Q43* |
probably null |
Het |
Trpa1 |
T |
A |
1: 14,952,457 (GRCm39) |
N858I |
possibly damaging |
Het |
Ttll5 |
A |
G |
12: 85,972,538 (GRCm39) |
D767G |
probably damaging |
Het |
Vmn2r3 |
G |
A |
3: 64,194,732 (GRCm39) |
T62I |
probably benign |
Het |
|
Other mutations in Wdr59 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00737:Wdr59
|
APN |
8 |
112,185,368 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01330:Wdr59
|
APN |
8 |
112,208,565 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01413:Wdr59
|
APN |
8 |
112,227,706 (GRCm39) |
missense |
probably benign |
0.23 |
IGL02306:Wdr59
|
APN |
8 |
112,219,365 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03027:Wdr59
|
APN |
8 |
112,188,824 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03057:Wdr59
|
APN |
8 |
112,202,750 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03204:Wdr59
|
APN |
8 |
112,212,002 (GRCm39) |
missense |
probably benign |
0.05 |
electron
|
UTSW |
8 |
112,185,270 (GRCm39) |
missense |
probably benign |
0.00 |
photon
|
UTSW |
8 |
112,187,445 (GRCm39) |
missense |
probably benign |
0.00 |
R0056:Wdr59
|
UTSW |
8 |
112,207,239 (GRCm39) |
splice site |
probably benign |
|
R0096:Wdr59
|
UTSW |
8 |
112,231,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Wdr59
|
UTSW |
8 |
112,231,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R0440:Wdr59
|
UTSW |
8 |
112,207,172 (GRCm39) |
small deletion |
probably benign |
|
R0452:Wdr59
|
UTSW |
8 |
112,248,604 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0472:Wdr59
|
UTSW |
8 |
112,213,629 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0501:Wdr59
|
UTSW |
8 |
112,185,579 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0526:Wdr59
|
UTSW |
8 |
112,207,172 (GRCm39) |
small deletion |
probably benign |
|
R0534:Wdr59
|
UTSW |
8 |
112,207,172 (GRCm39) |
small deletion |
probably benign |
|
R0601:Wdr59
|
UTSW |
8 |
112,207,172 (GRCm39) |
small deletion |
probably benign |
|
R1144:Wdr59
|
UTSW |
8 |
112,213,576 (GRCm39) |
missense |
probably benign |
0.09 |
R1415:Wdr59
|
UTSW |
8 |
112,225,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R1571:Wdr59
|
UTSW |
8 |
112,177,682 (GRCm39) |
missense |
probably damaging |
0.98 |
R1661:Wdr59
|
UTSW |
8 |
112,205,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R1665:Wdr59
|
UTSW |
8 |
112,205,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R1839:Wdr59
|
UTSW |
8 |
112,211,972 (GRCm39) |
missense |
probably benign |
|
R1856:Wdr59
|
UTSW |
8 |
112,202,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R1872:Wdr59
|
UTSW |
8 |
112,185,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R1921:Wdr59
|
UTSW |
8 |
112,213,582 (GRCm39) |
nonsense |
probably null |
|
R1965:Wdr59
|
UTSW |
8 |
112,177,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Wdr59
|
UTSW |
8 |
112,177,535 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1977:Wdr59
|
UTSW |
8 |
112,185,270 (GRCm39) |
missense |
probably benign |
0.00 |
R2019:Wdr59
|
UTSW |
8 |
112,193,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R4245:Wdr59
|
UTSW |
8 |
112,216,996 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4471:Wdr59
|
UTSW |
8 |
112,193,419 (GRCm39) |
critical splice donor site |
probably null |
|
R4820:Wdr59
|
UTSW |
8 |
112,207,446 (GRCm39) |
missense |
probably benign |
0.19 |
R5198:Wdr59
|
UTSW |
8 |
112,208,620 (GRCm39) |
missense |
probably benign |
0.00 |
R5540:Wdr59
|
UTSW |
8 |
112,211,816 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5571:Wdr59
|
UTSW |
8 |
112,192,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R6166:Wdr59
|
UTSW |
8 |
112,199,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R6732:Wdr59
|
UTSW |
8 |
112,227,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R6767:Wdr59
|
UTSW |
8 |
112,202,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R6823:Wdr59
|
UTSW |
8 |
112,185,672 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6841:Wdr59
|
UTSW |
8 |
112,223,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R6888:Wdr59
|
UTSW |
8 |
112,177,675 (GRCm39) |
missense |
probably benign |
0.00 |
R6974:Wdr59
|
UTSW |
8 |
112,187,420 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6982:Wdr59
|
UTSW |
8 |
112,187,445 (GRCm39) |
missense |
probably benign |
0.00 |
R7066:Wdr59
|
UTSW |
8 |
112,192,477 (GRCm39) |
missense |
probably benign |
0.07 |
R7176:Wdr59
|
UTSW |
8 |
112,219,388 (GRCm39) |
missense |
|
|
R7286:Wdr59
|
UTSW |
8 |
112,192,494 (GRCm39) |
missense |
|
|
R7332:Wdr59
|
UTSW |
8 |
112,220,986 (GRCm39) |
missense |
|
|
R7537:Wdr59
|
UTSW |
8 |
112,217,001 (GRCm39) |
missense |
|
|
R7614:Wdr59
|
UTSW |
8 |
112,219,394 (GRCm39) |
missense |
|
|
R7758:Wdr59
|
UTSW |
8 |
112,207,117 (GRCm39) |
missense |
|
|
R7800:Wdr59
|
UTSW |
8 |
112,248,570 (GRCm39) |
missense |
|
|
R7861:Wdr59
|
UTSW |
8 |
112,220,912 (GRCm39) |
missense |
|
|
R8137:Wdr59
|
UTSW |
8 |
112,212,011 (GRCm39) |
missense |
|
|
R8726:Wdr59
|
UTSW |
8 |
112,223,466 (GRCm39) |
missense |
|
|
R8942:Wdr59
|
UTSW |
8 |
112,211,808 (GRCm39) |
missense |
probably benign |
|
R9318:Wdr59
|
UTSW |
8 |
112,177,700 (GRCm39) |
missense |
|
|
X0026:Wdr59
|
UTSW |
8 |
112,205,972 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- TATGAATGAGCTCAACCCTCC -3'
(R):5'- AAAGGTAGCCATCTTCCCCAG -3'
Sequencing Primer
(F):5'- CTAAGGTTATGGGCAAACACAGTCC -3'
(R):5'- AGAAGGGCTGCCACCTTC -3'
|
Posted On |
2019-06-26 |