Incidental Mutation 'R8942:Wdr59'
| ID |
681048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr59
|
| Ensembl Gene |
ENSMUSG00000031959 |
| Gene Name |
WD repeat domain 59 |
| Synonyms |
5430401O09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8942 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
112175429-112248724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112211808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 380
(K380E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148397
(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: K380E
| 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: K380E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: K380E
| 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: K380E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,790,732 (GRCm39) |
D833E |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,796,568 (GRCm39) |
I626L |
probably benign |
Het |
| AI182371 |
A |
C |
2: 34,990,622 (GRCm39) |
L25R |
probably damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,790,991 (GRCm39) |
Q138K |
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,353,658 (GRCm39) |
F491L |
probably damaging |
Het |
| Bcap29 |
T |
A |
12: 31,684,353 (GRCm39) |
M1L |
probably damaging |
Het |
| C1qtnf7 |
A |
G |
5: 43,773,583 (GRCm39) |
D294G |
probably benign |
Het |
| Ccdc170 |
C |
T |
10: 4,484,044 (GRCm39) |
A290V |
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,741,292 (GRCm39) |
L228I |
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,170,768 (GRCm39) |
V645D |
probably benign |
Het |
| Cyp4a31 |
C |
T |
4: 115,426,918 (GRCm39) |
R173W |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,214,875 (GRCm39) |
K898R |
probably benign |
Het |
| Efr3b |
G |
T |
12: 4,032,091 (GRCm39) |
H172Q |
possibly damaging |
Het |
| Eipr1 |
A |
T |
12: 28,917,053 (GRCm39) |
N374Y |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,392,002 (GRCm39) |
E414D |
possibly damaging |
Het |
| Exoc3l4 |
G |
T |
12: 111,392,003 (GRCm39) |
V415L |
probably benign |
Het |
| Faap100 |
G |
T |
11: 120,267,856 (GRCm39) |
H306N |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,619,134 (GRCm39) |
T80A |
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,292,287 (GRCm39) |
S501P |
probably benign |
Het |
| Gm10643 |
A |
G |
8: 84,790,799 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
A |
T |
13: 14,481,395 (GRCm39) |
V445D |
probably benign |
Het |
| Hells |
CT |
C |
19: 38,942,045 (GRCm39) |
|
probably null |
Het |
| Hnrnpr |
T |
G |
4: 136,059,791 (GRCm39) |
D197E |
possibly damaging |
Het |
| Hspb1 |
G |
A |
5: 135,916,928 (GRCm39) |
V6M |
probably damaging |
Het |
| Iglon5 |
A |
G |
7: 43,126,315 (GRCm39) |
V196A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,103,720 (GRCm39) |
T1142A |
probably benign |
Het |
| Katnip |
T |
G |
7: 125,449,975 (GRCm39) |
L1013R |
probably damaging |
Het |
| Kcnq2 |
T |
A |
2: 180,724,244 (GRCm39) |
D587V |
probably damaging |
Het |
| Lmln |
C |
T |
16: 32,901,330 (GRCm39) |
P242L |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,173,307 (GRCm39) |
|
probably null |
Het |
| Mrgpre |
T |
C |
7: 143,335,002 (GRCm39) |
Y167C |
|
Het |
| Mtx2 |
A |
T |
2: 74,699,696 (GRCm39) |
I156F |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,381,104 (GRCm39) |
S563T |
probably benign |
Het |
| Nmbr |
C |
T |
10: 14,646,197 (GRCm39) |
S357L |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,594 (GRCm39) |
I49N |
possibly damaging |
Het |
| Or4e1 |
A |
C |
14: 52,700,692 (GRCm39) |
I258S |
probably damaging |
Het |
| Or4f14 |
T |
A |
2: 111,743,207 (GRCm39) |
I23F |
probably benign |
Het |
| Or4f60 |
T |
C |
2: 111,902,802 (GRCm39) |
N42S |
probably damaging |
Het |
| Or4k15b |
A |
C |
14: 50,272,602 (GRCm39) |
L86R |
probably damaging |
Het |
| Or4p4 |
C |
T |
2: 88,483,308 (GRCm39) |
L271F |
possibly damaging |
Het |
| Pctp |
A |
G |
11: 89,875,554 (GRCm39) |
M203T |
possibly damaging |
Het |
| Pip4k2c |
A |
G |
10: 127,036,084 (GRCm39) |
V261A |
probably benign |
Het |
| Pm20d1 |
G |
T |
1: 131,739,785 (GRCm39) |
V378F |
possibly damaging |
Het |
| Ppcdc |
C |
T |
9: 57,342,265 (GRCm39) |
R19H |
probably benign |
Het |
| Pramel26 |
T |
C |
4: 143,536,861 (GRCm39) |
N490S |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,082,598 (GRCm39) |
E1332G |
probably damaging |
Het |
| Sgce |
G |
T |
6: 4,730,027 (GRCm39) |
L66M |
probably benign |
Het |
| Sycp2l |
G |
T |
13: 41,277,522 (GRCm39) |
|
probably null |
Het |
| Tars1 |
G |
T |
15: 11,384,183 (GRCm39) |
H695N |
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,876,851 (GRCm39) |
V107A |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,805,793 (GRCm39) |
M1550K |
possibly damaging |
Het |
| Ttf2 |
A |
C |
3: 100,869,042 (GRCm39) |
S431R |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,512,468 (GRCm39) |
D126G |
possibly damaging |
Het |
| Usp17lb |
C |
T |
7: 104,490,583 (GRCm39) |
V115I |
possibly damaging |
Het |
| Vezf1 |
A |
G |
11: 87,972,553 (GRCm39) |
T305A |
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,876 (GRCm39) |
N31K |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,971 (GRCm39) |
Y499* |
probably null |
Het |
| Zfp777 |
T |
C |
6: 48,006,125 (GRCm39) |
E467G |
probably benign |
Het |
| Zkscan4 |
C |
A |
13: 21,668,680 (GRCm39) |
P406Q |
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 |
|
|
|
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 |
|
|
|
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'- GCTACGGAGATGCTATGGTAC -3'
(R):5'- CAGCTTAAGCCATGGAGAGG -3'
Sequencing Primer
(F):5'- ATGGCTCAGCAGTTAAGTGTGC -3'
(R):5'- GAAGATGGTAATGTAACTGATGTCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation