Incidental Mutation 'R7332:Wdr59'
ID |
569303 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr59
|
Ensembl Gene |
ENSMUSG00000031959 |
Gene Name |
WD repeat domain 59 |
Synonyms |
5430401O09Rik |
MMRRC Submission |
045425-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7332 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
112175429-112248724 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 112220986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 182
(T182I)
|
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: T182I
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: T182I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043671 Gene: ENSMUSG00000031959 AA Change: T182I
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: T182I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l2 |
A |
G |
19: 56,906,553 (GRCm39) |
S449P |
probably damaging |
Het |
Atp6v0c |
A |
C |
17: 24,388,198 (GRCm39) |
S21A |
probably benign |
Het |
Cacna1e |
T |
C |
1: 154,601,547 (GRCm39) |
Y40C |
possibly damaging |
Het |
Cdadc1 |
A |
G |
14: 59,813,213 (GRCm39) |
I398T |
possibly damaging |
Het |
Cfap44 |
T |
A |
16: 44,250,191 (GRCm39) |
D756E |
probably damaging |
Het |
Clcnkb |
A |
T |
4: 141,141,243 (GRCm39) |
L104Q |
probably null |
Het |
Clk1 |
G |
A |
1: 58,451,853 (GRCm39) |
H421Y |
probably benign |
Het |
Cmpk2 |
A |
T |
12: 26,528,061 (GRCm39) |
D426V |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,229,061 (GRCm39) |
L2009S |
possibly damaging |
Het |
Col5a2 |
C |
G |
1: 45,419,325 (GRCm39) |
D1252H |
probably damaging |
Het |
Coro1b |
A |
G |
19: 4,199,356 (GRCm39) |
K5R |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,313,360 (GRCm39) |
T1346A |
|
Het |
Csrp1 |
G |
T |
1: 135,667,149 (GRCm39) |
W4L |
probably benign |
Het |
Cyp3a25 |
A |
G |
5: 145,929,817 (GRCm39) |
I184T |
probably damaging |
Het |
Egfl7 |
C |
A |
2: 26,480,725 (GRCm39) |
R128S |
probably benign |
Het |
Fggy |
A |
T |
4: 95,511,719 (GRCm39) |
N157I |
probably damaging |
Het |
Gldc |
A |
T |
19: 30,093,926 (GRCm39) |
L697Q |
probably damaging |
Het |
Gm4952 |
T |
A |
19: 12,604,373 (GRCm39) |
Y262N |
probably damaging |
Het |
Gsap |
T |
A |
5: 21,495,119 (GRCm39) |
M821K |
probably benign |
Het |
Hps1 |
T |
C |
19: 42,766,351 (GRCm39) |
|
probably null |
Het |
Hsbp1l1 |
T |
C |
18: 80,280,038 (GRCm39) |
|
probably benign |
Het |
Igfbp7 |
G |
A |
5: 77,499,803 (GRCm39) |
T220I |
probably damaging |
Het |
Ints3 |
T |
C |
3: 90,322,819 (GRCm39) |
Q137R |
probably damaging |
Het |
Kcna6 |
A |
G |
6: 126,716,292 (GRCm39) |
F199S |
possibly damaging |
Het |
Kirrel1 |
T |
C |
3: 86,995,705 (GRCm39) |
I410V |
probably benign |
Het |
Llgl2 |
T |
C |
11: 115,739,125 (GRCm39) |
V332A |
probably damaging |
Het |
Lrrc27 |
A |
G |
7: 138,822,661 (GRCm39) |
I517M |
probably damaging |
Het |
Mas1 |
T |
C |
17: 13,061,106 (GRCm39) |
T106A |
probably benign |
Het |
Mast4 |
T |
A |
13: 102,887,932 (GRCm39) |
Y1159F |
possibly damaging |
Het |
Mmp2 |
A |
G |
8: 93,576,780 (GRCm39) |
D601G |
probably damaging |
Het |
Mycbp2 |
T |
A |
14: 103,434,793 (GRCm39) |
I2217F |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,393,889 (GRCm39) |
S2891P |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,437,209 (GRCm39) |
V438A |
possibly damaging |
Het |
Or4g17 |
A |
G |
2: 111,209,738 (GRCm39) |
H131R |
not run |
Het |
Pdf |
T |
C |
8: 107,775,173 (GRCm39) |
R20G |
probably benign |
Het |
Pfdn2 |
T |
C |
1: 171,184,162 (GRCm39) |
L47P |
probably damaging |
Het |
Pik3c2g |
C |
A |
6: 139,841,981 (GRCm39) |
N795K |
|
Het |
Ppip5k1 |
A |
T |
2: 121,142,450 (GRCm39) |
V1333D |
probably damaging |
Het |
Pramel51 |
T |
C |
12: 88,143,187 (GRCm39) |
T339A |
possibly damaging |
Het |
Prss44 |
A |
T |
9: 110,644,530 (GRCm39) |
I213F |
probably damaging |
Het |
Rbm47 |
A |
G |
5: 66,183,557 (GRCm39) |
Y349H |
probably damaging |
Het |
Rcl1 |
A |
T |
19: 29,108,096 (GRCm39) |
T253S |
probably benign |
Het |
Rdh1 |
A |
G |
10: 127,595,754 (GRCm39) |
|
probably benign |
Het |
Scn7a |
C |
T |
2: 66,522,898 (GRCm39) |
W935* |
probably null |
Het |
Sec24b |
T |
C |
3: 129,835,042 (GRCm39) |
N52S |
probably benign |
Het |
Serpinb5 |
A |
T |
1: 106,800,091 (GRCm39) |
I94L |
probably benign |
Het |
Setx |
T |
C |
2: 29,036,638 (GRCm39) |
V1041A |
probably benign |
Het |
Slco3a1 |
G |
A |
7: 73,968,232 (GRCm39) |
A496V |
possibly damaging |
Het |
Spag5 |
T |
A |
11: 78,204,205 (GRCm39) |
L486* |
probably null |
Het |
Spink5 |
T |
C |
18: 44,115,317 (GRCm39) |
I183T |
probably damaging |
Het |
Srd5a1 |
T |
C |
13: 69,759,173 (GRCm39) |
Y65C |
probably benign |
Het |
Ssh2 |
T |
A |
11: 77,344,349 (GRCm39) |
I778N |
possibly damaging |
Het |
Sstr1 |
C |
T |
12: 58,260,172 (GRCm39) |
S265L |
probably damaging |
Het |
Syne2 |
T |
A |
12: 76,014,529 (GRCm39) |
|
probably null |
Het |
Tctn1 |
A |
T |
5: 122,399,547 (GRCm39) |
D92E |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,503,644 (GRCm39) |
I940M |
probably damaging |
Het |
Tmeff2 |
T |
C |
1: 51,018,599 (GRCm39) |
W194R |
unknown |
Het |
Tomm20 |
T |
C |
8: 127,663,903 (GRCm39) |
T94A |
probably benign |
Het |
Ucn2 |
A |
G |
9: 108,815,532 (GRCm39) |
N98S |
probably benign |
Het |
V1rd19 |
A |
T |
7: 23,702,743 (GRCm39) |
I70L |
probably benign |
Het |
Vmn1r18 |
A |
G |
6: 57,367,503 (GRCm39) |
L17P |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,909,534 (GRCm39) |
T20A |
probably benign |
Het |
Zfp40 |
A |
T |
17: 23,395,155 (GRCm39) |
C477* |
probably null |
Het |
Zfp68 |
A |
G |
5: 138,604,830 (GRCm39) |
S498P |
possibly damaging |
Het |
Zfp729b |
T |
C |
13: 67,757,755 (GRCm39) |
|
probably null |
Het |
Zfp846 |
T |
G |
9: 20,505,521 (GRCm39) |
N460K |
probably benign |
Het |
Zim1 |
T |
C |
7: 6,680,352 (GRCm39) |
Y437C |
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 |
|
|
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'- TGACCATGCATCCCTAACGTC -3'
(R):5'- TCACACACTAAGCTGGAGC -3'
Sequencing Primer
(F):5'- ATGCATCCCTAACGTCCGTCAC -3'
(R):5'- CTGGAGCGGGTAGACATGTG -3'
|
Posted On |
2019-09-13 |