Incidental Mutation 'R7614:Wdr59'
| ID |
588770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr59
|
| Ensembl Gene |
ENSMUSG00000031959 |
| Gene Name |
WD repeat domain 59 |
| Synonyms |
5430401O09Rik |
| MMRRC Submission |
045682-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7614 (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 112219394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 221
(Y221C)
|
| 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: Y221C
| 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: Y221C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: Y221C
| 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: Y221C
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1363 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
A |
G |
1: 156,464,429 (GRCm39) |
T535A |
possibly damaging |
Het |
| Adcy9 |
A |
T |
16: 4,236,088 (GRCm39) |
L441Q |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,668,780 (GRCm39) |
V2592E |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,790,825 (GRCm39) |
S689G |
probably benign |
Het |
| Ankrd24 |
G |
A |
10: 81,474,523 (GRCm39) |
G229E |
unknown |
Het |
| Ankrd34c |
T |
A |
9: 89,610,914 (GRCm39) |
I476F |
probably damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,984,090 (GRCm39) |
H770R |
possibly damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,771,316 (GRCm39) |
S1208A |
possibly damaging |
Het |
| Arid1a |
A |
T |
4: 133,418,466 (GRCm39) |
M654K |
unknown |
Het |
| Atp11b |
T |
A |
3: 35,864,259 (GRCm39) |
|
probably null |
Het |
| Cadps |
A |
G |
14: 12,454,260 (GRCm38) |
I1086T |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cfap276 |
T |
A |
3: 108,449,848 (GRCm39) |
D42E |
probably benign |
Het |
| Cntn3 |
T |
C |
6: 102,142,337 (GRCm39) |
H1010R |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,159,472 (GRCm39) |
Y308N |
probably damaging |
Het |
| Dok6 |
T |
A |
18: 89,492,067 (GRCm39) |
H170L |
probably damaging |
Het |
| Eefsec |
C |
T |
6: 88,258,576 (GRCm39) |
D506N |
possibly damaging |
Het |
| Fam181a |
C |
T |
12: 103,282,805 (GRCm39) |
P237S |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,184,867 (GRCm39) |
I19V |
probably damaging |
Het |
| Gm3285 |
A |
T |
10: 77,697,865 (GRCm39) |
T5S |
unknown |
Het |
| Heg1 |
A |
G |
16: 33,547,733 (GRCm39) |
E864G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,803,023 (GRCm39) |
L2124* |
probably null |
Het |
| Hexa |
T |
C |
9: 59,469,230 (GRCm39) |
S331P |
probably damaging |
Het |
| Hspb1 |
A |
T |
5: 135,917,223 (GRCm39) |
D104V |
probably damaging |
Het |
| Ikzf1 |
A |
T |
11: 11,719,019 (GRCm39) |
Q329L |
probably damaging |
Het |
| Kcnf1 |
C |
A |
12: 17,224,787 (GRCm39) |
R478L |
probably benign |
Het |
| Kdm3a |
T |
C |
6: 71,568,937 (GRCm39) |
T1161A |
possibly damaging |
Het |
| Krtap31-2 |
T |
C |
11: 99,827,429 (GRCm39) |
I87T |
possibly damaging |
Het |
| Lars2 |
T |
C |
9: 123,224,176 (GRCm39) |
S116P |
|
Het |
| Lrrk2 |
A |
G |
15: 91,657,061 (GRCm39) |
D1785G |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,701,709 (GRCm39) |
H61R |
probably benign |
Het |
| Or10x4 |
T |
G |
1: 174,219,220 (GRCm39) |
F195C |
probably damaging |
Het |
| Or9s13 |
A |
G |
1: 92,548,183 (GRCm39) |
Y185C |
probably damaging |
Het |
| Pcdhb4 |
C |
A |
18: 37,442,602 (GRCm39) |
H637Q |
probably benign |
Het |
| Pcsk9 |
T |
A |
4: 106,304,763 (GRCm39) |
D435V |
probably benign |
Het |
| Prickle2 |
T |
A |
6: 92,402,631 (GRCm39) |
Y119F |
possibly damaging |
Het |
| Prr5 |
A |
G |
15: 84,641,276 (GRCm39) |
T181A |
probably benign |
Het |
| Psd |
T |
A |
19: 46,301,877 (GRCm39) |
Q903L |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,649,331 (GRCm39) |
S245T |
probably benign |
Het |
| Resp18 |
T |
C |
1: 75,254,882 (GRCm39) |
S24G |
probably damaging |
Het |
| Slc17a4 |
T |
C |
13: 24,090,580 (GRCm39) |
T89A |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,737,792 (GRCm39) |
Y233C |
probably damaging |
Het |
| Slit1 |
T |
A |
19: 41,622,639 (GRCm39) |
I707F |
probably damaging |
Het |
| Sp4 |
T |
C |
12: 118,218,174 (GRCm39) |
E691G |
possibly damaging |
Het |
| Sun2 |
G |
T |
15: 79,623,225 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
C |
12: 104,912,901 (GRCm39) |
T723A |
not run |
Het |
| Tcp1 |
T |
A |
17: 13,141,540 (GRCm39) |
F340I |
possibly damaging |
Het |
| Tmem39b |
A |
T |
4: 129,587,694 (GRCm39) |
V39D |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,286,214 (GRCm39) |
Y536* |
probably null |
Het |
| Tnfrsf11a |
A |
T |
1: 105,755,094 (GRCm39) |
T389S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,598,873 (GRCm39) |
T19347A |
possibly damaging |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,553 (GRCm39) |
S182P |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,352 (GRCm39) |
T255A |
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 |
|
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 |
|
|
|
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'- TAAGCACCTAAGGCCACTACTG -3'
(R):5'- TGACAGTACCGTGGTTATAGGG -3'
Sequencing Primer
(F):5'- TAAGGCCACTACTGTAAACCAAG -3'
(R):5'- TTCTTCGGCCATCACTGGAAAGAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation