Incidental Mutation 'R1571:Wdr59'
| ID |
186208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr59
|
| Ensembl Gene |
ENSMUSG00000031959 |
| Gene Name |
WD repeat domain 59 |
| Synonyms |
5430401O09Rik |
| MMRRC Submission |
039610-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1571 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
112175429-112248724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112177682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 907
(S907G)
|
| 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 benign
Transcript: ENSMUST00000034437
AA Change: S926G
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: S926G
| 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: S907G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: S907G
| 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 |
noncoding transcript
Transcript: ENSMUST00000184608
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211981
AA Change: S924G
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610524H06Rik |
A |
G |
5: 114,961,372 (GRCm39) |
|
probably null |
Het |
| Abcd3 |
T |
C |
3: 121,586,491 (GRCm39) |
I70V |
possibly damaging |
Het |
| Acad10 |
T |
C |
5: 121,759,411 (GRCm39) |
Y1024C |
probably damaging |
Het |
| Atp2b3 |
T |
G |
X: 72,588,712 (GRCm39) |
V701G |
probably damaging |
Het |
| Cbfa2t2 |
T |
A |
2: 154,342,347 (GRCm39) |
M21K |
probably damaging |
Het |
| Cdc25a |
C |
T |
9: 109,710,614 (GRCm39) |
T106I |
possibly damaging |
Het |
| Cdhr5 |
T |
C |
7: 140,852,083 (GRCm39) |
T190A |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,685,445 (GRCm39) |
T829A |
probably benign |
Het |
| Clcn6 |
T |
C |
4: 148,097,226 (GRCm39) |
T614A |
possibly damaging |
Het |
| Cntln |
A |
T |
4: 84,865,823 (GRCm39) |
R160* |
probably null |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dock3 |
C |
A |
9: 106,815,158 (GRCm39) |
M1236I |
possibly damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,847,719 (GRCm39) |
H213Q |
probably damaging |
Het |
| Eya1 |
T |
A |
1: 14,279,141 (GRCm39) |
H372L |
probably damaging |
Het |
| Fam13b |
A |
G |
18: 34,630,485 (GRCm39) |
V91A |
possibly damaging |
Het |
| Hat1 |
T |
A |
2: 71,264,519 (GRCm39) |
I319K |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,853 (GRCm39) |
N123D |
probably benign |
Het |
| Kcns3 |
C |
A |
12: 11,141,551 (GRCm39) |
G383W |
probably damaging |
Het |
| Kprp |
A |
T |
3: 92,732,689 (GRCm39) |
C120* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,672,774 (GRCm39) |
C2456S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,366,658 (GRCm39) |
D539E |
probably damaging |
Het |
| Matn3 |
T |
C |
12: 9,005,466 (GRCm39) |
L292S |
probably damaging |
Het |
| Mbd3l1 |
T |
A |
9: 18,395,947 (GRCm39) |
I24N |
probably damaging |
Het |
| Med10 |
T |
C |
13: 69,958,159 (GRCm39) |
L37P |
probably damaging |
Het |
| Mrc1 |
A |
T |
2: 14,313,544 (GRCm39) |
H925L |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,409,290 (GRCm39) |
I3219N |
probably damaging |
Het |
| Nom1 |
C |
T |
5: 29,647,633 (GRCm39) |
Q623* |
probably null |
Het |
| Nrm |
T |
A |
17: 36,175,079 (GRCm39) |
W136R |
probably damaging |
Het |
| Or8h8 |
A |
C |
2: 86,753,789 (GRCm39) |
V29G |
probably benign |
Het |
| Pde7b |
T |
C |
10: 20,288,836 (GRCm39) |
N298S |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,277,990 (GRCm39) |
A305T |
possibly damaging |
Het |
| Pimreg |
T |
C |
11: 71,936,042 (GRCm39) |
L175P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,390,237 (GRCm39) |
D1451G |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,355,128 (GRCm39) |
S212G |
probably benign |
Het |
| Rhpn1 |
C |
T |
15: 75,585,967 (GRCm39) |
R627C |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnase4 |
T |
G |
14: 51,342,497 (GRCm39) |
F74V |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,896,226 (GRCm39) |
|
probably null |
Het |
| Selp |
T |
C |
1: 163,954,176 (GRCm39) |
Y159H |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,000,853 (GRCm39) |
T21A |
probably damaging |
Het |
| Slco1a7 |
A |
T |
6: 141,700,135 (GRCm39) |
C132* |
probably null |
Het |
| Slco3a1 |
T |
C |
7: 74,154,128 (GRCm39) |
D148G |
possibly damaging |
Het |
| Smtn |
G |
A |
11: 3,480,102 (GRCm39) |
P373L |
probably benign |
Het |
| Snx20 |
A |
T |
8: 89,356,597 (GRCm39) |
L73Q |
probably damaging |
Het |
| Sobp |
A |
G |
10: 43,033,942 (GRCm39) |
V128A |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,657,357 (GRCm39) |
T280A |
unknown |
Het |
| Tgfbrap1 |
A |
G |
1: 43,088,973 (GRCm39) |
V810A |
probably benign |
Het |
| Thbs1 |
C |
A |
2: 117,949,678 (GRCm39) |
D589E |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,078,239 (GRCm39) |
Y885H |
probably damaging |
Het |
| Tmem109 |
A |
G |
19: 10,849,993 (GRCm39) |
S100P |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,305,562 (GRCm39) |
K462E |
probably benign |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,538 (GRCm39) |
I257F |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,372,352 (GRCm39) |
Y54C |
probably damaging |
Het |
| Wdcp |
T |
A |
12: 4,901,924 (GRCm39) |
Y593* |
probably null |
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 |
|
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 |
|
|
|
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'- AGAGAGCCTTCTCCAGCACTTATGG -3'
(R):5'- ATGACTGATCTGCCAGAGCCTGAC -3'
Sequencing Primer
(F):5'- AAGTTCAGAAGGTGCTCTCC -3'
(R):5'- CCAGAGCCTGACAGGGTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation