Incidental Mutation 'R6959:Wdr64'
ID |
541627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr64
|
Ensembl Gene |
ENSMUSG00000026523 |
Gene Name |
WD repeat domain 64 |
Synonyms |
4930415O10Rik, 4930511H01Rik |
MMRRC Submission |
045069-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6959 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
175526159-175643300 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 175533555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 64
(F64I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094288]
[ENSMUST00000171939]
[ENSMUST00000194087]
|
AlphaFold |
Q9D565 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094288
AA Change: F64I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091846 Gene: ENSMUSG00000026523 AA Change: F64I
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 damaging
Transcript: ENSMUST00000171939
AA Change: F64I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128678 Gene: ENSMUSG00000026523 AA Change: F64I
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 |
probably damaging
Transcript: ENSMUST00000194087
AA Change: F64I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141740 Gene: ENSMUSG00000026523 AA Change: F64I
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: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
Validation Efficiency |
94% (61/65) |
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544D05Rik |
G |
A |
11: 70,507,485 (GRCm39) |
G177R |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,927,249 (GRCm39) |
T292A |
probably benign |
Het |
Atp11a |
T |
A |
8: 12,870,467 (GRCm39) |
D173E |
probably damaging |
Het |
Bltp1 |
T |
G |
3: 37,021,338 (GRCm39) |
V2154G |
probably damaging |
Het |
Btnl2 |
G |
A |
17: 34,582,333 (GRCm39) |
V300M |
possibly damaging |
Het |
Calcrl |
A |
T |
2: 84,200,428 (GRCm39) |
N117K |
possibly damaging |
Het |
Castor2 |
T |
C |
5: 134,164,052 (GRCm39) |
S83P |
probably damaging |
Het |
Ccdc196 |
A |
G |
12: 78,249,070 (GRCm39) |
K139E |
probably damaging |
Het |
Ccl22 |
A |
T |
8: 95,473,528 (GRCm39) |
|
probably null |
Het |
Cd200r1 |
T |
A |
16: 44,610,539 (GRCm39) |
S216T |
probably damaging |
Het |
Cdk5rap2 |
G |
A |
4: 70,278,906 (GRCm39) |
|
probably null |
Het |
Cfap157 |
A |
G |
2: 32,674,260 (GRCm39) |
I47T |
probably damaging |
Het |
Chodl |
G |
A |
16: 78,743,572 (GRCm39) |
V220I |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
Cstf3 |
A |
G |
2: 104,479,807 (GRCm39) |
T225A |
probably benign |
Het |
Duoxa1 |
T |
C |
2: 122,134,318 (GRCm39) |
S267G |
probably damaging |
Het |
Epb41l1 |
G |
A |
2: 156,341,507 (GRCm39) |
S164N |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,908,181 (GRCm39) |
D2607G |
possibly damaging |
Het |
Galnt5 |
A |
G |
2: 57,889,231 (GRCm39) |
D277G |
probably benign |
Het |
Galnt6 |
A |
G |
15: 100,612,006 (GRCm39) |
I212T |
probably damaging |
Het |
Gm45861 |
T |
C |
8: 28,038,213 (GRCm39) |
|
probably null |
Het |
Gm5478 |
T |
C |
15: 101,553,883 (GRCm39) |
D243G |
probably damaging |
Het |
Gse1 |
A |
G |
8: 121,297,710 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,246,600 (GRCm39) |
Q1096L |
probably benign |
Het |
Hycc1 |
T |
C |
5: 24,196,754 (GRCm39) |
I45V |
possibly damaging |
Het |
Idh3b |
A |
G |
2: 130,123,447 (GRCm39) |
V181A |
probably damaging |
Het |
Igf2bp3 |
T |
C |
6: 49,094,082 (GRCm39) |
|
probably null |
Het |
Ikzf2 |
A |
G |
1: 69,577,929 (GRCm39) |
*382Q |
probably null |
Het |
Impg2 |
A |
C |
16: 56,088,693 (GRCm39) |
H1073P |
probably benign |
Het |
Incenp |
T |
C |
19: 9,854,134 (GRCm39) |
E639G |
unknown |
Het |
Kcne4 |
A |
G |
1: 78,795,603 (GRCm39) |
M84V |
probably benign |
Het |
Ktn1 |
T |
A |
14: 47,957,713 (GRCm39) |
F1004I |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Malrd1 |
A |
G |
2: 16,222,820 (GRCm39) |
I2040V |
probably damaging |
Het |
Mau2 |
T |
C |
8: 70,485,878 (GRCm39) |
D110G |
probably damaging |
Het |
Mei1 |
T |
C |
15: 82,009,076 (GRCm39) |
V1237A |
probably benign |
Het |
Mfsd11 |
T |
G |
11: 116,752,495 (GRCm39) |
|
probably null |
Het |
Ncapd2 |
A |
G |
6: 125,145,883 (GRCm39) |
F1293L |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,440,294 (GRCm39) |
T280A |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,928,411 (GRCm39) |
A6085E |
probably damaging |
Het |
Or51b6b |
T |
A |
7: 103,310,050 (GRCm39) |
I136F |
probably damaging |
Het |
Pdzd2 |
C |
T |
15: 12,375,993 (GRCm39) |
A1381T |
probably benign |
Het |
Pramel41 |
T |
A |
5: 94,594,891 (GRCm39) |
N250K |
possibly damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,184,621 (GRCm39) |
V1462A |
probably damaging |
Het |
Rbx1 |
T |
A |
15: 81,355,163 (GRCm39) |
C56* |
probably null |
Het |
Reln |
A |
G |
5: 22,181,562 (GRCm39) |
S1774P |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,040,090 (GRCm39) |
E300D |
probably damaging |
Het |
Sarnp |
T |
C |
10: 128,684,137 (GRCm39) |
V111A |
possibly damaging |
Het |
Scube1 |
G |
T |
15: 83,513,636 (GRCm39) |
Q345K |
probably benign |
Het |
Slc18b1 |
A |
G |
10: 23,701,942 (GRCm39) |
|
probably null |
Het |
Slc37a2 |
T |
A |
9: 37,152,630 (GRCm39) |
T64S |
probably benign |
Het |
Slit2 |
A |
G |
5: 48,395,727 (GRCm39) |
D710G |
possibly damaging |
Het |
Srp72 |
T |
A |
5: 77,142,070 (GRCm39) |
Y375N |
possibly damaging |
Het |
Tmco4 |
T |
A |
4: 138,737,810 (GRCm39) |
V135D |
probably damaging |
Het |
Trim62 |
A |
G |
4: 128,802,955 (GRCm39) |
D335G |
probably damaging |
Het |
Tsfm |
T |
C |
10: 126,858,778 (GRCm39) |
M196V |
probably benign |
Het |
Tspan10 |
T |
A |
11: 120,335,522 (GRCm39) |
C211S |
probably damaging |
Het |
Ttc21b |
A |
T |
2: 66,061,656 (GRCm39) |
M498K |
probably benign |
Het |
Ttc6 |
A |
T |
12: 57,704,928 (GRCm39) |
|
probably null |
Het |
Ttll1 |
G |
T |
15: 83,386,397 (GRCm39) |
Y69* |
probably null |
Het |
Usp28 |
T |
A |
9: 48,912,842 (GRCm39) |
L31H |
probably damaging |
Het |
Vmn2r86 |
A |
G |
10: 130,282,400 (GRCm39) |
S739P |
probably damaging |
Het |
Ywhaq |
A |
G |
12: 21,446,281 (GRCm39) |
|
probably null |
Het |
Zfr |
T |
C |
15: 12,150,409 (GRCm39) |
S459P |
probably damaging |
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 |
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 |
|
R7991:Wdr64
|
UTSW |
1 |
175,554,051 (GRCm39) |
missense |
probably benign |
0.36 |
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'- TTCTAGCTAGGGCCTAGATATGTTC -3'
(R):5'- ACATACTGCAGATTTAGCTTTGGTGG -3'
Sequencing Primer
(F):5'- GTGAAACTCTGTCCTTGGTA -3'
(R):5'- CAGATTTAGCTTTGGTGGGAGTAAC -3'
|
Posted On |
2018-11-28 |