Incidental Mutation 'R8137:Wdr59'
| ID |
632306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr59
|
| Ensembl Gene |
ENSMUSG00000031959 |
| Gene Name |
WD repeat domain 59 |
| Synonyms |
5430401O09Rik |
| MMRRC Submission |
067565-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
112175429-112248724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112212011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 353
(D353G)
|
| 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: D353G
| 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 benign
Transcript: ENSMUST00000038193
AA Change: D353G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: D353G
| 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: D353G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0614 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.8%
- 20x: 96.4%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankfn1 |
T |
G |
11: 89,344,003 (GRCm39) |
Q326H |
probably benign |
Het |
| Carf |
G |
A |
1: 60,187,124 (GRCm39) |
V576I |
probably benign |
Het |
| Ccnl1 |
C |
T |
3: 65,865,291 (GRCm39) |
D87N |
possibly damaging |
Het |
| Cgref1 |
T |
A |
5: 31,091,749 (GRCm39) |
D111V |
possibly damaging |
Het |
| Cnot4 |
G |
A |
6: 35,023,222 (GRCm39) |
P567S |
unknown |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,765 (GRCm39) |
D149E |
probably benign |
Het |
| Dcc |
A |
T |
18: 71,511,783 (GRCm39) |
D877E |
probably benign |
Het |
| Dhx8 |
T |
A |
11: 101,654,808 (GRCm39) |
I1032N |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,272,913 (GRCm39) |
Y2347C |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,029,041 (GRCm39) |
S63P |
possibly damaging |
Het |
| Dyrk2 |
C |
T |
10: 118,695,789 (GRCm39) |
E490K |
probably benign |
Het |
| Fcgbp |
A |
C |
7: 27,804,496 (GRCm39) |
Y1868S |
probably damaging |
Het |
| Foxa2 |
T |
C |
2: 147,885,768 (GRCm39) |
H355R |
probably benign |
Het |
| Fpr-rs7 |
A |
G |
17: 20,334,055 (GRCm39) |
V145A |
possibly damaging |
Het |
| Gm14137 |
A |
T |
2: 119,005,837 (GRCm39) |
E132V |
probably benign |
Het |
| Gpn2 |
T |
C |
4: 133,315,873 (GRCm39) |
S211P |
possibly damaging |
Het |
| Greb1l |
A |
T |
18: 10,474,357 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Gspt1 |
A |
G |
16: 11,058,532 (GRCm39) |
V144A |
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,589,188 (GRCm39) |
I81T |
possibly damaging |
Het |
| Il27ra |
T |
A |
8: 84,767,720 (GRCm39) |
|
probably null |
Het |
| Kif21a |
T |
C |
15: 90,852,645 (GRCm39) |
T862A |
probably benign |
Het |
| Klf2 |
T |
C |
8: 73,074,088 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
A |
G |
5: 23,706,952 (GRCm39) |
Y1505C |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,499,076 (GRCm39) |
T216A |
|
Het |
| Muc16 |
T |
C |
9: 18,556,972 (GRCm39) |
E3107G |
unknown |
Het |
| Ncor2 |
C |
T |
5: 125,114,957 (GRCm39) |
V169I |
|
Het |
| Oas3 |
T |
C |
5: 120,915,565 (GRCm39) |
Q42R |
probably benign |
Het |
| Or2l5 |
A |
G |
16: 19,333,846 (GRCm39) |
V180A |
possibly damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,013 (GRCm39) |
*309W |
probably null |
Het |
| Pde10a |
A |
G |
17: 9,193,647 (GRCm39) |
Y693C |
possibly damaging |
Het |
| Pde11a |
T |
C |
2: 76,041,383 (GRCm39) |
E429G |
possibly damaging |
Het |
| Pramel23 |
A |
G |
4: 143,425,835 (GRCm39) |
F36S |
probably damaging |
Het |
| Pygo1 |
A |
G |
9: 72,852,140 (GRCm39) |
H109R |
probably damaging |
Het |
| Rbsn |
A |
T |
6: 92,167,003 (GRCm39) |
V547D |
probably benign |
Het |
| Ros1 |
A |
G |
10: 52,001,933 (GRCm39) |
I1084T |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,796,378 (GRCm39) |
D1801G |
probably benign |
Het |
| Slco4c1 |
C |
T |
1: 96,748,970 (GRCm39) |
G649E |
probably damaging |
Het |
| Spmip10 |
A |
G |
18: 56,727,653 (GRCm39) |
D117G |
probably damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,787,431 (GRCm39) |
I914F |
possibly damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Strc |
C |
T |
2: 121,197,219 (GRCm39) |
G1503R |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,225,171 (GRCm39) |
Y46F |
probably damaging |
Het |
| Tctn3 |
A |
T |
19: 40,593,785 (GRCm39) |
W462R |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,109,525 (GRCm39) |
D857G |
probably benign |
Het |
| Tor1aip2 |
C |
T |
1: 155,939,414 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
| Vezt |
T |
C |
10: 93,775,154 (GRCm39) |
N94D |
|
Het |
| Vmn2r105 |
T |
C |
17: 20,454,966 (GRCm39) |
N57D |
probably benign |
Het |
| Ykt6 |
T |
C |
11: 5,909,368 (GRCm39) |
V59A |
probably damaging |
Het |
| Ypel3 |
T |
G |
7: 126,377,269 (GRCm39) |
V54G |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,268 (GRCm39) |
C329S |
possibly damaging |
Het |
| Zfp451 |
A |
T |
1: 33,821,156 (GRCm39) |
L232H |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,081,110 (GRCm39) |
H423R |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,740,861 (GRCm39) |
Y468C |
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 |
|
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 |
|
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 |
|
|
|
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'- GGCCTAGTTGGTCTGATCTC -3'
(R):5'- CAATCAAACGCAGGGTTTTGG -3'
Sequencing Primer
(F):5'- CAAACTGCTGGGAGGGTCTTC -3'
(R):5'- TTTGGGCACACTAGGAAAACACTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation