Incidental Mutation 'R7991:Wdr64'
ID |
651714 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr64
|
Ensembl Gene |
ENSMUSG00000026523 |
Gene Name |
WD repeat domain 64 |
Synonyms |
4930415O10Rik, 4930511H01Rik |
MMRRC Submission |
046032-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R7991 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
175526159-175643300 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 175554051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 194
(Q194K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128678
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094288]
[ENSMUST00000171939]
[ENSMUST00000194087]
|
AlphaFold |
Q9D565 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094288
AA Change: Q204K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091846 Gene: ENSMUSG00000026523 AA Change: Q204K
Domain | Start | End | E-Value | Type |
WD40
|
118 |
159 |
2.65e1 |
SMART |
WD40
|
162 |
200 |
2.13e1 |
SMART |
low complexity region
|
259 |
271 |
N/A |
INTRINSIC |
Blast:WD40
|
277 |
316 |
5e-19 |
BLAST |
WD40
|
323 |
361 |
2.4e-1 |
SMART |
WD40
|
365 |
404 |
8.29e-1 |
SMART |
WD40
|
407 |
449 |
1.7e2 |
SMART |
WD40
|
457 |
493 |
1.19e1 |
SMART |
WD40
|
497 |
538 |
4.55e-3 |
SMART |
WD40
|
643 |
684 |
3.31e0 |
SMART |
WD40
|
742 |
806 |
7.4e0 |
SMART |
Blast:WD40
|
811 |
851 |
7e-17 |
BLAST |
WD40
|
864 |
903 |
4.62e-4 |
SMART |
Blast:XPGN
|
921 |
964 |
9e-19 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171939
AA Change: Q194K
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128678 Gene: ENSMUSG00000026523 AA Change: Q194K
Domain | Start | End | E-Value | Type |
WD40
|
151 |
190 |
5.73e0 |
SMART |
low complexity region
|
249 |
261 |
N/A |
INTRINSIC |
Blast:WD40
|
267 |
306 |
4e-19 |
BLAST |
WD40
|
313 |
351 |
2.4e-1 |
SMART |
WD40
|
355 |
394 |
8.29e-1 |
SMART |
WD40
|
397 |
439 |
1.7e2 |
SMART |
WD40
|
447 |
483 |
1.19e1 |
SMART |
WD40
|
487 |
528 |
4.55e-3 |
SMART |
WD40
|
633 |
674 |
3.31e0 |
SMART |
WD40
|
732 |
796 |
7.4e0 |
SMART |
Blast:WD40
|
801 |
841 |
5e-17 |
BLAST |
WD40
|
854 |
893 |
4.62e-4 |
SMART |
Blast:XPGN
|
911 |
954 |
1e-18 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194087
AA Change: Q194K
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141740 Gene: ENSMUSG00000026523 AA Change: Q194K
Domain | Start | End | E-Value | Type |
WD40
|
151 |
190 |
3.6e-2 |
SMART |
low complexity region
|
249 |
261 |
N/A |
INTRINSIC |
Blast:WD40
|
267 |
305 |
5e-19 |
BLAST |
WD40
|
313 |
351 |
1.5e-3 |
SMART |
WD40
|
355 |
394 |
5.2e-3 |
SMART |
WD40
|
397 |
439 |
1.1e0 |
SMART |
WD40
|
447 |
483 |
7.6e-2 |
SMART |
WD40
|
487 |
528 |
2.9e-5 |
SMART |
WD40
|
633 |
674 |
2.1e-2 |
SMART |
WD40
|
732 |
796 |
4.7e-2 |
SMART |
Blast:WD40
|
801 |
841 |
6e-17 |
BLAST |
WD40
|
854 |
893 |
2.9e-6 |
SMART |
Blast:XPGN
|
911 |
954 |
1e-18 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
G |
18: 59,185,726 (GRCm39) |
D1200G |
probably damaging |
Het |
Adnp2 |
A |
G |
18: 80,172,537 (GRCm39) |
L624P |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,114,949 (GRCm39) |
|
probably null |
Het |
Ap2a2 |
A |
G |
7: 141,189,760 (GRCm39) |
Y249C |
probably damaging |
Het |
Asxl2 |
A |
T |
12: 3,534,531 (GRCm39) |
N243Y |
probably damaging |
Het |
Btnl4 |
A |
G |
17: 34,693,257 (GRCm39) |
S53P |
probably damaging |
Het |
Caly |
T |
C |
7: 139,651,513 (GRCm39) |
D116G |
possibly damaging |
Het |
Ccdc121rt2 |
G |
A |
5: 112,598,791 (GRCm39) |
R446H |
probably benign |
Het |
Ccdc168 |
T |
A |
1: 44,098,869 (GRCm39) |
H743L |
probably benign |
Het |
Ccdc81 |
G |
A |
7: 89,539,609 (GRCm39) |
A209V |
probably benign |
Het |
Cdc14a |
A |
G |
3: 116,101,887 (GRCm39) |
S347P |
probably benign |
Het |
Cdh9 |
G |
T |
15: 16,828,489 (GRCm39) |
A194S |
probably damaging |
Het |
Clca3a2 |
A |
G |
3: 144,519,756 (GRCm39) |
V206A |
probably benign |
Het |
Clca4a |
A |
T |
3: 144,658,500 (GRCm39) |
V905E |
possibly damaging |
Het |
Cluap1 |
A |
G |
16: 3,746,485 (GRCm39) |
E282G |
probably damaging |
Het |
Cmtm2b |
T |
A |
8: 105,056,419 (GRCm39) |
C109* |
probably null |
Het |
Crtac1 |
T |
C |
19: 42,322,399 (GRCm39) |
N114D |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,013,634 (GRCm39) |
Y168H |
|
Het |
Dock6 |
T |
C |
9: 21,757,858 (GRCm39) |
D82G |
probably damaging |
Het |
Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
Erfl |
G |
A |
7: 24,627,975 (GRCm39) |
P185S |
possibly damaging |
Het |
Fh1 |
T |
C |
1: 175,437,337 (GRCm39) |
Y254C |
probably damaging |
Het |
H2-Q1 |
T |
A |
17: 35,540,356 (GRCm39) |
L147Q |
probably damaging |
Het |
H3c8 |
T |
A |
13: 23,719,887 (GRCm39) |
M91K |
probably benign |
Het |
Hnrnpu |
A |
T |
1: 178,159,871 (GRCm39) |
D403E |
unknown |
Het |
Il34 |
T |
C |
8: 111,476,122 (GRCm39) |
K33E |
probably benign |
Het |
Klhl20 |
A |
G |
1: 160,934,434 (GRCm39) |
V195A |
possibly damaging |
Het |
Lair1 |
G |
T |
7: 4,031,969 (GRCm39) |
T46N |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,921,805 (GRCm39) |
E442G |
possibly damaging |
Het |
Lifr |
A |
T |
15: 7,202,963 (GRCm39) |
I400F |
possibly damaging |
Het |
Man2a1 |
T |
C |
17: 64,908,771 (GRCm39) |
I14T |
probably benign |
Het |
Or13p10 |
T |
A |
4: 118,523,489 (GRCm39) |
C258* |
probably null |
Het |
Or1ad8 |
T |
G |
11: 50,898,071 (GRCm39) |
S91A |
possibly damaging |
Het |
Or4z4 |
A |
C |
19: 12,076,190 (GRCm39) |
V271G |
possibly damaging |
Het |
Or51h7 |
A |
G |
7: 102,591,760 (GRCm39) |
L8P |
probably benign |
Het |
Or5an10 |
T |
A |
19: 12,275,639 (GRCm39) |
I286F |
probably damaging |
Het |
Or8s10 |
T |
C |
15: 98,335,419 (GRCm39) |
I23T |
probably benign |
Het |
Papss2 |
G |
T |
19: 32,629,403 (GRCm39) |
V331F |
possibly damaging |
Het |
Pcdha11 |
T |
C |
18: 37,145,909 (GRCm39) |
S667P |
probably damaging |
Het |
Pcolce |
A |
T |
5: 137,607,390 (GRCm39) |
S75T |
probably benign |
Het |
Phf20l1 |
A |
C |
15: 66,502,768 (GRCm39) |
D716A |
possibly damaging |
Het |
Pkd1 |
A |
G |
17: 24,791,595 (GRCm39) |
E1094G |
possibly damaging |
Het |
Ppm1h |
A |
G |
10: 122,618,152 (GRCm39) |
K104E |
probably benign |
Het |
Ppp6r3 |
T |
C |
19: 3,509,750 (GRCm39) |
Y195C |
probably benign |
Het |
Pramel6 |
T |
A |
2: 87,340,031 (GRCm39) |
L265Q |
probably benign |
Het |
Prc1 |
A |
T |
7: 79,961,969 (GRCm39) |
N489I |
possibly damaging |
Het |
Prss59 |
A |
C |
6: 40,905,444 (GRCm39) |
|
probably null |
Het |
Psg22 |
A |
C |
7: 18,460,861 (GRCm39) |
N497H |
probably damaging |
Het |
Pum3 |
T |
A |
19: 27,389,620 (GRCm39) |
I411F |
possibly damaging |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rev3l |
A |
T |
10: 39,739,734 (GRCm39) |
I2861L |
possibly damaging |
Het |
Rsf1 |
A |
C |
7: 97,310,540 (GRCm39) |
K423N |
|
Het |
Samd4b |
A |
G |
7: 28,103,458 (GRCm39) |
I553T |
probably benign |
Het |
Septin3 |
A |
G |
15: 82,170,654 (GRCm39) |
E216G |
probably benign |
Het |
Sppl2c |
T |
C |
11: 104,078,640 (GRCm39) |
V480A |
possibly damaging |
Het |
Sppl2c |
A |
G |
11: 104,078,189 (GRCm39) |
T330A |
probably benign |
Het |
Srebf2 |
A |
G |
15: 82,088,253 (GRCm39) |
D1073G |
probably damaging |
Het |
Sv2c |
C |
T |
13: 96,224,797 (GRCm39) |
V171M |
probably damaging |
Het |
Tbc1d4 |
T |
A |
14: 101,845,715 (GRCm39) |
E61V |
probably damaging |
Het |
Tnc |
T |
A |
4: 63,926,983 (GRCm39) |
T848S |
probably benign |
Het |
Trmt5 |
A |
G |
12: 73,329,439 (GRCm39) |
Y240H |
probably damaging |
Het |
Trpv1 |
T |
C |
11: 73,132,583 (GRCm39) |
V399A |
possibly damaging |
Het |
Tstd2 |
T |
C |
4: 46,133,646 (GRCm39) |
T59A |
unknown |
Het |
Ubash3a |
T |
A |
17: 31,456,869 (GRCm39) |
L510M |
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,783,200 (GRCm39) |
I713N |
probably damaging |
Het |
Upf3a |
A |
G |
8: 13,842,166 (GRCm39) |
E194G |
probably damaging |
Het |
Usp22 |
A |
T |
11: 61,065,588 (GRCm39) |
Y42N |
probably benign |
Het |
Vav3 |
T |
A |
3: 109,470,478 (GRCm39) |
C555S |
probably damaging |
Het |
Vmn1r210 |
T |
A |
13: 23,011,684 (GRCm39) |
M201L |
probably benign |
Het |
|
Other mutations in Wdr64 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00563:Wdr64
|
APN |
1 |
175,526,366 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00902:Wdr64
|
APN |
1 |
175,556,391 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01347:Wdr64
|
APN |
1 |
175,547,899 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01353:Wdr64
|
APN |
1 |
175,559,151 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01583:Wdr64
|
APN |
1 |
175,594,722 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01643:Wdr64
|
APN |
1 |
175,599,877 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01673:Wdr64
|
APN |
1 |
175,627,922 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01992:Wdr64
|
APN |
1 |
175,533,637 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02613:Wdr64
|
APN |
1 |
175,594,613 (GRCm39) |
nonsense |
probably null |
|
IGL02834:Wdr64
|
APN |
1 |
175,633,415 (GRCm39) |
splice site |
probably benign |
|
IGL03214:Wdr64
|
APN |
1 |
175,571,201 (GRCm39) |
splice site |
probably benign |
|
IGL03305:Wdr64
|
APN |
1 |
175,583,152 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03308:Wdr64
|
APN |
1 |
175,594,562 (GRCm39) |
unclassified |
probably benign |
|
PIT4418001:Wdr64
|
UTSW |
1 |
175,571,160 (GRCm39) |
nonsense |
probably null |
|
R0036:Wdr64
|
UTSW |
1 |
175,556,496 (GRCm39) |
nonsense |
probably null |
|
R0041:Wdr64
|
UTSW |
1 |
175,554,037 (GRCm39) |
nonsense |
probably null |
|
R0041:Wdr64
|
UTSW |
1 |
175,554,037 (GRCm39) |
nonsense |
probably null |
|
R0079:Wdr64
|
UTSW |
1 |
175,622,668 (GRCm39) |
missense |
probably benign |
0.02 |
R0380:Wdr64
|
UTSW |
1 |
175,597,208 (GRCm39) |
splice site |
probably benign |
|
R0486:Wdr64
|
UTSW |
1 |
175,622,769 (GRCm39) |
splice site |
probably benign |
|
R0520:Wdr64
|
UTSW |
1 |
175,553,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R0598:Wdr64
|
UTSW |
1 |
175,633,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R0711:Wdr64
|
UTSW |
1 |
175,599,751 (GRCm39) |
missense |
probably benign |
0.39 |
R0746:Wdr64
|
UTSW |
1 |
175,620,539 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0927:Wdr64
|
UTSW |
1 |
175,620,647 (GRCm39) |
missense |
probably damaging |
0.97 |
R0947:Wdr64
|
UTSW |
1 |
175,603,315 (GRCm39) |
missense |
probably benign |
|
R1014:Wdr64
|
UTSW |
1 |
175,583,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R1332:Wdr64
|
UTSW |
1 |
175,622,706 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1416:Wdr64
|
UTSW |
1 |
175,633,568 (GRCm39) |
missense |
probably benign |
0.01 |
R1421:Wdr64
|
UTSW |
1 |
175,594,716 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1467:Wdr64
|
UTSW |
1 |
175,603,288 (GRCm39) |
missense |
probably benign |
0.00 |
R1467:Wdr64
|
UTSW |
1 |
175,603,288 (GRCm39) |
missense |
probably benign |
0.00 |
R1796:Wdr64
|
UTSW |
1 |
175,544,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R1797:Wdr64
|
UTSW |
1 |
175,639,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R2145:Wdr64
|
UTSW |
1 |
175,594,661 (GRCm39) |
missense |
probably benign |
0.01 |
R2321:Wdr64
|
UTSW |
1 |
175,622,653 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2449:Wdr64
|
UTSW |
1 |
175,526,479 (GRCm39) |
missense |
probably benign |
|
R4049:Wdr64
|
UTSW |
1 |
175,633,422 (GRCm39) |
missense |
probably benign |
0.21 |
R4155:Wdr64
|
UTSW |
1 |
175,597,172 (GRCm39) |
missense |
probably benign |
0.03 |
R4624:Wdr64
|
UTSW |
1 |
175,599,829 (GRCm39) |
missense |
probably benign |
|
R4661:Wdr64
|
UTSW |
1 |
175,554,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R4711:Wdr64
|
UTSW |
1 |
175,626,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R4891:Wdr64
|
UTSW |
1 |
175,526,345 (GRCm39) |
unclassified |
probably benign |
|
R4925:Wdr64
|
UTSW |
1 |
175,552,268 (GRCm39) |
splice site |
probably null |
|
R4943:Wdr64
|
UTSW |
1 |
175,547,882 (GRCm39) |
missense |
probably benign |
0.01 |
R5000:Wdr64
|
UTSW |
1 |
175,553,941 (GRCm39) |
splice site |
probably null |
|
R5001:Wdr64
|
UTSW |
1 |
175,620,525 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5143:Wdr64
|
UTSW |
1 |
175,553,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R5395:Wdr64
|
UTSW |
1 |
175,583,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R5813:Wdr64
|
UTSW |
1 |
175,639,623 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6014:Wdr64
|
UTSW |
1 |
175,633,556 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6417:Wdr64
|
UTSW |
1 |
175,553,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R6456:Wdr64
|
UTSW |
1 |
175,613,175 (GRCm39) |
critical splice donor site |
probably null |
|
R6555:Wdr64
|
UTSW |
1 |
175,547,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R6576:Wdr64
|
UTSW |
1 |
175,633,494 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6797:Wdr64
|
UTSW |
1 |
175,638,176 (GRCm39) |
critical splice donor site |
probably null |
|
R6891:Wdr64
|
UTSW |
1 |
175,533,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R6959:Wdr64
|
UTSW |
1 |
175,533,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R7205:Wdr64
|
UTSW |
1 |
175,617,499 (GRCm39) |
missense |
probably benign |
0.34 |
R7252:Wdr64
|
UTSW |
1 |
175,603,240 (GRCm39) |
missense |
probably benign |
0.00 |
R7552:Wdr64
|
UTSW |
1 |
175,613,147 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7732:Wdr64
|
UTSW |
1 |
175,617,495 (GRCm39) |
missense |
probably benign |
|
R7777:Wdr64
|
UTSW |
1 |
175,617,564 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7780:Wdr64
|
UTSW |
1 |
175,556,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R7810:Wdr64
|
UTSW |
1 |
175,559,092 (GRCm39) |
missense |
probably benign |
0.01 |
R7833:Wdr64
|
UTSW |
1 |
175,591,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R7843:Wdr64
|
UTSW |
1 |
175,639,668 (GRCm39) |
missense |
probably benign |
0.00 |
R7887:Wdr64
|
UTSW |
1 |
175,613,111 (GRCm39) |
missense |
not run |
|
R8124:Wdr64
|
UTSW |
1 |
175,626,844 (GRCm39) |
splice site |
probably null |
|
R8129:Wdr64
|
UTSW |
1 |
175,603,154 (GRCm39) |
missense |
probably damaging |
0.96 |
R8673:Wdr64
|
UTSW |
1 |
175,633,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R8728:Wdr64
|
UTSW |
1 |
175,559,079 (GRCm39) |
missense |
probably benign |
0.01 |
R8786:Wdr64
|
UTSW |
1 |
175,636,327 (GRCm39) |
nonsense |
probably null |
|
R8822:Wdr64
|
UTSW |
1 |
175,544,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R8842:Wdr64
|
UTSW |
1 |
175,599,893 (GRCm39) |
missense |
probably benign |
0.02 |
R8887:Wdr64
|
UTSW |
1 |
175,599,850 (GRCm39) |
missense |
probably benign |
0.17 |
R9014:Wdr64
|
UTSW |
1 |
175,526,395 (GRCm39) |
missense |
probably benign |
|
R9330:Wdr64
|
UTSW |
1 |
175,554,024 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9332:Wdr64
|
UTSW |
1 |
175,599,871 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9465:Wdr64
|
UTSW |
1 |
175,618,823 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9716:Wdr64
|
UTSW |
1 |
175,622,658 (GRCm39) |
missense |
probably benign |
|
R9717:Wdr64
|
UTSW |
1 |
175,544,854 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Wdr64
|
UTSW |
1 |
175,533,551 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCTGCCAGATGGGACTTC -3'
(R):5'- CGGGTACTGAGGCTGAAAACAC -3'
Sequencing Primer
(F):5'- TCTGGTGATACTGGAGACTACACC -3'
(R):5'- GGCTGAAAACACCATCATAGAGGTC -3'
|
Posted On |
2020-09-15 |