Incidental Mutation 'R5198:Wdr59'
| ID |
400485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr59
|
| Ensembl Gene |
ENSMUSG00000031959 |
| Gene Name |
WD repeat domain 59 |
| Synonyms |
5430401O09Rik |
| MMRRC Submission |
042774-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5198 (G1)
|
| Quality Score |
182 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
112175429-112248724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112208620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 421
(H421Y)
|
| 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: H421Y
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: H421Y
| 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: H421Y
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: H421Y
| 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: H421Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212327
|
| Meta Mutation Damage Score |
0.0889 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,571,726 (GRCm39) |
V1121A |
probably benign |
Het |
| Adamtsl3 |
A |
C |
7: 82,261,006 (GRCm39) |
K1647Q |
possibly damaging |
Het |
| Adgrb1 |
A |
T |
15: 74,415,550 (GRCm39) |
Q710L |
probably null |
Het |
| Alox12 |
T |
C |
11: 70,145,243 (GRCm39) |
E110G |
probably damaging |
Het |
| Cep152 |
T |
A |
2: 125,429,544 (GRCm39) |
M738L |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,209,532 (GRCm39) |
V38A |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,405,552 (GRCm39) |
G79D |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dus3l |
A |
G |
17: 57,076,574 (GRCm39) |
I585V |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,718,198 (GRCm39) |
Y313C |
probably damaging |
Het |
| Fbxw15 |
C |
A |
9: 109,387,242 (GRCm39) |
S251I |
probably benign |
Het |
| Gata4 |
G |
A |
14: 63,437,900 (GRCm39) |
S417L |
probably benign |
Het |
| Gdpd5 |
T |
A |
7: 99,087,515 (GRCm39) |
Y60N |
probably damaging |
Het |
| Gm17669 |
T |
C |
18: 67,695,626 (GRCm39) |
M57T |
probably benign |
Het |
| Gpr39 |
A |
T |
1: 125,605,173 (GRCm39) |
I34F |
probably benign |
Het |
| Iffo2 |
T |
A |
4: 139,302,528 (GRCm39) |
D90E |
probably benign |
Het |
| Il17c |
A |
G |
8: 123,149,108 (GRCm39) |
D84G |
possibly damaging |
Het |
| Itih3 |
T |
C |
14: 30,634,606 (GRCm39) |
T134A |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,222,999 (GRCm39) |
A429V |
probably damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,851,521 (GRCm39) |
R806H |
probably damaging |
Het |
| Naaa |
G |
A |
5: 92,415,904 (GRCm39) |
R65* |
probably null |
Het |
| Nacc2 |
C |
T |
2: 25,950,346 (GRCm39) |
M463I |
probably benign |
Het |
| Nemf |
A |
G |
12: 69,402,821 (GRCm39) |
S72P |
probably damaging |
Het |
| Nudt7 |
G |
A |
8: 114,862,185 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
T |
C |
2: 90,126,737 (GRCm39) |
Q156R |
probably damaging |
Het |
| Or52z15 |
T |
C |
7: 103,331,936 (GRCm39) |
S4P |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,189,325 (GRCm39) |
D757G |
probably benign |
Het |
| Pkd2 |
A |
C |
5: 104,630,958 (GRCm39) |
I461L |
probably benign |
Het |
| Potegl |
G |
A |
2: 23,102,473 (GRCm39) |
C121Y |
probably damaging |
Het |
| Pramel5 |
T |
G |
4: 144,000,064 (GRCm39) |
|
probably benign |
Het |
| Ptgdr |
G |
C |
14: 45,096,300 (GRCm39) |
F137L |
probably damaging |
Het |
| Pum1 |
T |
A |
4: 130,507,190 (GRCm39) |
C1085* |
probably null |
Het |
| Rfx3 |
T |
C |
19: 27,808,176 (GRCm39) |
D189G |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,005,750 (GRCm39) |
K1077* |
probably null |
Het |
| Slc25a30 |
C |
A |
14: 76,007,056 (GRCm39) |
D147Y |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,873,984 (GRCm39) |
E22G |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,245,519 (GRCm39) |
T1098A |
probably benign |
Het |
| Tbcc |
T |
C |
17: 47,201,788 (GRCm39) |
F58S |
probably damaging |
Het |
| Tekt3 |
G |
A |
11: 62,961,134 (GRCm39) |
R101H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,838,991 (GRCm39) |
E2184D |
probably damaging |
Het |
| Vkorc1 |
T |
C |
7: 127,493,760 (GRCm39) |
E18G |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,723 (GRCm39) |
H125R |
probably benign |
Het |
| Vmn2r63 |
C |
A |
7: 42,553,169 (GRCm39) |
V696L |
probably benign |
Het |
| Xkr7 |
T |
C |
2: 152,896,873 (GRCm39) |
Y576H |
probably damaging |
Het |
| Zfp112 |
T |
C |
7: 23,824,281 (GRCm39) |
V83A |
possibly damaging |
Het |
| Zfp616 |
G |
A |
11: 73,974,336 (GRCm39) |
V293I |
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 |
|
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'- TGTTACAGCCACGAGGAGAG -3'
(R):5'- CAGTTACTAGGAGCTGAGCATTTG -3'
Sequencing Primer
(F):5'- AGACTAACGCTGGGAGCC -3'
(R):5'- GCTAAAATCTGTGTCTTGCTGAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation