Incidental Mutation 'R6767:Wdr59'
| ID |
531989 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr59
|
| Ensembl Gene |
ENSMUSG00000031959 |
| Gene Name |
WD repeat domain 59 |
| Synonyms |
5430401O09Rik |
| MMRRC Submission |
044883-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6767 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
112175429-112248724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 112202733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 603
(S603R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034437]
[ENSMUST00000038193]
[ENSMUST00000211981]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034437
AA Change: S603R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: S603R
| 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 |
probably damaging
Transcript: ENSMUST00000038193
AA Change: S603R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: S603R
| 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 |
possibly damaging
Transcript: ENSMUST00000211981
AA Change: S603R
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| 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 |
|---|
| Adam34l |
G |
A |
8: 44,079,951 (GRCm39) |
T91I |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,732,866 (GRCm39) |
N537D |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Atp8a2 |
A |
G |
14: 60,284,171 (GRCm39) |
F47S |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,550,888 (GRCm38) |
T449S |
probably damaging |
Het |
| Ccdc33 |
C |
G |
9: 57,940,527 (GRCm39) |
Q489H |
possibly damaging |
Het |
| Cd163 |
T |
G |
6: 124,281,738 (GRCm39) |
S14A |
possibly damaging |
Het |
| Cemip |
G |
A |
7: 83,647,832 (GRCm39) |
L83F |
probably damaging |
Het |
| Chrd |
C |
T |
16: 20,557,376 (GRCm39) |
P665L |
probably benign |
Het |
| Cib4 |
T |
A |
5: 30,691,589 (GRCm39) |
H44L |
probably benign |
Het |
| Clic1 |
T |
A |
17: 35,272,029 (GRCm39) |
L99Q |
probably benign |
Het |
| Cnst |
C |
T |
1: 179,437,519 (GRCm39) |
T361I |
possibly damaging |
Het |
| Dnah6 |
C |
A |
6: 73,110,591 (GRCm39) |
V1613L |
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,634 (GRCm39) |
S57P |
probably damaging |
Het |
| Dyrk3 |
T |
C |
1: 131,057,327 (GRCm39) |
H282R |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,708,313 (GRCm39) |
I651V |
possibly damaging |
Het |
| Gas6 |
A |
G |
8: 13,515,784 (GRCm39) |
S663P |
probably damaging |
Het |
| Gbp8 |
T |
C |
5: 105,166,478 (GRCm39) |
M284V |
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,650,933 (GRCm39) |
|
probably null |
Het |
| Gm6034 |
T |
A |
17: 36,354,023 (GRCm39) |
M1K |
probably null |
Het |
| Gm9376 |
A |
G |
14: 118,504,648 (GRCm39) |
T27A |
unknown |
Het |
| Grid2 |
A |
G |
6: 63,907,999 (GRCm39) |
D213G |
probably benign |
Het |
| Gsdma3 |
A |
T |
11: 98,528,710 (GRCm39) |
D388V |
possibly damaging |
Het |
| H4c2 |
T |
A |
13: 23,941,005 (GRCm39) |
M1K |
probably null |
Het |
| Hdac9 |
T |
A |
12: 34,337,528 (GRCm39) |
H716L |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,308,203 (GRCm39) |
S148P |
probably damaging |
Het |
| Kctd1 |
T |
C |
18: 15,195,232 (GRCm39) |
T464A |
possibly damaging |
Het |
| Kera |
A |
G |
10: 97,445,034 (GRCm39) |
D131G |
possibly damaging |
Het |
| Kif2c |
C |
T |
4: 117,035,385 (GRCm39) |
R21Q |
probably benign |
Het |
| Luc7l3 |
G |
T |
11: 94,183,779 (GRCm39) |
D453E |
probably damaging |
Het |
| Mrpl9 |
A |
G |
3: 94,357,528 (GRCm39) |
|
probably benign |
Het |
| Mtss1 |
T |
C |
15: 58,825,430 (GRCm39) |
S257G |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,974,530 (GRCm39) |
F1467L |
probably damaging |
Het |
| Naa25 |
T |
C |
5: 121,577,928 (GRCm39) |
V945A |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,407,923 (GRCm39) |
I103M |
probably damaging |
Het |
| Or2w1b |
C |
T |
13: 21,300,227 (GRCm39) |
R122C |
probably benign |
Het |
| Orm3 |
C |
T |
4: 63,274,531 (GRCm39) |
T32I |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Plch1 |
A |
T |
3: 63,662,765 (GRCm39) |
M246K |
probably damaging |
Het |
| Pld4 |
A |
C |
12: 112,730,549 (GRCm39) |
D144A |
possibly damaging |
Het |
| Prelp |
C |
A |
1: 133,840,448 (GRCm39) |
V345L |
probably benign |
Het |
| Rnf121 |
A |
G |
7: 101,672,619 (GRCm39) |
F238L |
probably damaging |
Het |
| Rnf40 |
A |
G |
7: 127,195,757 (GRCm39) |
K667R |
possibly damaging |
Het |
| Scgb1b12 |
A |
T |
7: 32,033,920 (GRCm39) |
N60I |
probably damaging |
Het |
| Serpina3n |
T |
G |
12: 104,375,321 (GRCm39) |
V131G |
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,870,328 (GRCm39) |
Y119C |
probably damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,094,409 (GRCm39) |
F204S |
probably damaging |
Het |
| Smc6 |
T |
A |
12: 11,321,821 (GRCm39) |
D29E |
possibly damaging |
Het |
| Smgc |
T |
A |
15: 91,725,601 (GRCm39) |
F40Y |
possibly damaging |
Het |
| Sorcs3 |
G |
T |
19: 48,702,010 (GRCm39) |
L630F |
probably damaging |
Het |
| Sphk1 |
A |
G |
11: 116,426,982 (GRCm39) |
K306E |
possibly damaging |
Het |
| Spmip2 |
A |
T |
3: 79,337,330 (GRCm39) |
D46V |
probably benign |
Het |
| Spsb1 |
C |
T |
4: 149,991,301 (GRCm39) |
G89D |
probably damaging |
Het |
| Stat4 |
G |
T |
1: 52,115,742 (GRCm39) |
M227I |
probably benign |
Het |
| Syngr4 |
A |
G |
7: 45,536,915 (GRCm39) |
V116A |
possibly damaging |
Het |
| Tacc1 |
T |
C |
8: 25,730,816 (GRCm39) |
M1V |
probably null |
Het |
| Tcf7l1 |
T |
G |
6: 72,608,275 (GRCm39) |
K355Q |
probably damaging |
Het |
| Tmem192 |
T |
C |
8: 65,416,888 (GRCm39) |
S36P |
probably damaging |
Het |
| Top3a |
G |
T |
11: 60,641,579 (GRCm39) |
N368K |
possibly damaging |
Het |
| Tpk1 |
T |
A |
6: 43,323,727 (GRCm39) |
I241F |
possibly damaging |
Het |
| Trappc10 |
A |
G |
10: 78,029,345 (GRCm39) |
I1064T |
possibly damaging |
Het |
| Vmn1r18 |
T |
A |
6: 57,367,206 (GRCm39) |
K116M |
probably damaging |
Het |
| Vmn2r40 |
A |
T |
7: 8,923,139 (GRCm39) |
H407Q |
unknown |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,807 (GRCm39) |
L467H |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zfp324 |
A |
C |
7: 12,704,527 (GRCm39) |
K74N |
probably null |
Het |
| Zfyve16 |
A |
G |
13: 92,644,707 (GRCm39) |
L1165P |
probably damaging |
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 |
|
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 |
|
R7154:Wdr59
|
UTSW |
8 |
112,185,367 (GRCm39) |
missense |
|
|
|
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'- CCAACTGAGAGCATCACAGC -3'
(R):5'- ACTCAGACTGCCCCAATTTT -3'
Sequencing Primer
(F):5'- GAGAGCATCACAGCAATGACTGTTC -3'
(R):5'- ACATTTGTGTGTGTGTTGGATTCCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation