Incidental Mutation 'PIT4418001:Wdr64'
ID |
555555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr64
|
Ensembl Gene |
ENSMUSG00000026523 |
Gene Name |
WD repeat domain 64 |
Synonyms |
4930415O10Rik, 4930511H01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
PIT4418001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
175526159-175643300 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 175571160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 331
(Y331*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128678
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094288]
[ENSMUST00000171939]
[ENSMUST00000194087]
|
AlphaFold |
Q9D565 |
Predicted Effect |
probably null
Transcript: ENSMUST00000094288
AA Change: Y341*
|
SMART Domains |
Protein: ENSMUSP00000091846 Gene: ENSMUSG00000026523 AA Change: Y341*
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 null
Transcript: ENSMUST00000171939
AA Change: Y331*
|
SMART Domains |
Protein: ENSMUSP00000128678 Gene: ENSMUSG00000026523 AA Change: Y331*
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 null
Transcript: ENSMUST00000194087
AA Change: Y331*
|
SMART Domains |
Protein: ENSMUSP00000141740 Gene: ENSMUSG00000026523 AA Change: Y331*
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: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.4%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
T |
C |
6: 88,816,630 (GRCm39) |
Y100C |
possibly damaging |
Het |
Adamtsl1 |
T |
C |
4: 86,161,961 (GRCm39) |
Y365H |
probably damaging |
Het |
Atad2b |
A |
T |
12: 5,074,587 (GRCm39) |
I1049F |
probably benign |
Het |
Atg9b |
A |
T |
5: 24,590,513 (GRCm39) |
S859T |
possibly damaging |
Het |
Banp |
G |
A |
8: 122,732,365 (GRCm39) |
A380T |
probably damaging |
Het |
Brinp3 |
C |
T |
1: 146,777,161 (GRCm39) |
T536I |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,631,384 (GRCm39) |
E1155G |
|
Het |
Capn12 |
T |
C |
7: 28,585,961 (GRCm39) |
S270P |
probably benign |
Het |
Cbs |
A |
T |
17: 31,834,495 (GRCm39) |
I498N |
possibly damaging |
Het |
Cep68 |
T |
C |
11: 20,189,731 (GRCm39) |
K427R |
probably benign |
Het |
Cobl |
G |
A |
11: 12,206,240 (GRCm39) |
T545I |
possibly damaging |
Het |
Cr2 |
T |
A |
1: 194,839,760 (GRCm39) |
M556L |
probably benign |
Het |
Crebbp |
A |
G |
16: 3,932,689 (GRCm39) |
S1068P |
probably benign |
Het |
D2hgdh |
C |
T |
1: 93,766,590 (GRCm39) |
H385Y |
possibly damaging |
Het |
Dennd1b |
T |
C |
1: 139,008,999 (GRCm39) |
L159P |
|
Het |
Dnajb4 |
A |
T |
3: 151,899,134 (GRCm39) |
F31I |
possibly damaging |
Het |
Dnajc16 |
A |
G |
4: 141,498,260 (GRCm39) |
F369S |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,273,429 (GRCm39) |
L493H |
possibly damaging |
Het |
Efcab5 |
T |
A |
11: 77,022,877 (GRCm39) |
Q612L |
possibly damaging |
Het |
Efr3b |
A |
T |
12: 4,030,490 (GRCm39) |
L407Q |
possibly damaging |
Het |
Ehbp1 |
T |
A |
11: 22,003,494 (GRCm39) |
Q1085L |
probably damaging |
Het |
Ell |
T |
C |
8: 71,034,331 (GRCm39) |
V199A |
probably damaging |
Het |
Elmod2 |
G |
T |
8: 84,048,171 (GRCm39) |
T97K |
probably benign |
Het |
Epn3 |
T |
C |
11: 94,386,956 (GRCm39) |
E138G |
probably damaging |
Het |
Esf1 |
A |
T |
2: 140,001,697 (GRCm39) |
F383L |
probably benign |
Het |
Fam193a |
A |
T |
5: 34,597,879 (GRCm39) |
T559S |
probably damaging |
Het |
Galr2 |
T |
C |
11: 116,174,084 (GRCm39) |
V238A |
probably benign |
Het |
Gm3476 |
T |
C |
14: 6,118,411 (GRCm38) |
I237M |
probably benign |
Het |
Gm5160 |
A |
T |
18: 14,558,339 (GRCm39) |
I139F |
probably damaging |
Het |
Gpr15 |
T |
C |
16: 58,538,313 (GRCm39) |
T259A |
probably benign |
Het |
Iffo1 |
A |
G |
6: 125,126,746 (GRCm39) |
K293E |
possibly damaging |
Het |
Ikbip |
T |
A |
10: 90,932,395 (GRCm39) |
H346Q |
probably benign |
Het |
Il4ra |
G |
A |
7: 125,175,510 (GRCm39) |
G573S |
probably benign |
Het |
Ing2 |
A |
T |
8: 48,122,125 (GRCm39) |
M141K |
probably benign |
Het |
Itga6 |
T |
C |
2: 71,664,414 (GRCm39) |
S517P |
probably benign |
Het |
Itprid1 |
T |
G |
6: 55,945,330 (GRCm39) |
S684A |
probably damaging |
Het |
Kcnab1 |
A |
G |
3: 65,265,741 (GRCm39) |
E295G |
probably benign |
Het |
Klhl21 |
A |
C |
4: 152,099,835 (GRCm39) |
Y515S |
possibly damaging |
Het |
Lcn9 |
A |
T |
2: 25,714,553 (GRCm39) |
Y139F |
probably damaging |
Het |
Mcemp1 |
G |
T |
8: 3,717,052 (GRCm39) |
L64F |
probably null |
Het |
Mos |
T |
C |
4: 3,870,814 (GRCm39) |
D334G |
possibly damaging |
Het |
Myo9b |
T |
G |
8: 71,775,591 (GRCm39) |
F338V |
probably damaging |
Het |
Nefl |
G |
A |
14: 68,323,979 (GRCm39) |
V406M |
probably damaging |
Het |
Nfam1 |
C |
A |
15: 82,885,689 (GRCm39) |
R181L |
probably damaging |
Het |
Ntn5 |
A |
G |
7: 45,335,925 (GRCm39) |
R119G |
probably damaging |
Het |
Or12e10 |
G |
T |
2: 87,640,938 (GRCm39) |
C258F |
probably damaging |
Het |
Or5b101 |
A |
T |
19: 13,005,095 (GRCm39) |
Y199* |
probably null |
Het |
Or7a40 |
T |
C |
16: 16,491,719 (GRCm39) |
N42S |
probably damaging |
Het |
Plch2 |
A |
T |
4: 155,073,960 (GRCm39) |
V914E |
probably damaging |
Het |
Ppp1r12c |
T |
C |
7: 4,504,266 (GRCm39) |
Q111R |
probably null |
Het |
Ptchd3 |
T |
A |
11: 121,732,566 (GRCm39) |
Y485* |
probably null |
Het |
Ptchd4 |
T |
A |
17: 42,813,980 (GRCm39) |
I627N |
probably damaging |
Het |
Retnlb |
T |
C |
16: 48,637,631 (GRCm39) |
V19A |
probably benign |
Het |
Rimbp2 |
T |
A |
5: 128,857,425 (GRCm39) |
T809S |
probably benign |
Het |
Sema6c |
T |
A |
3: 95,077,401 (GRCm39) |
D404E |
possibly damaging |
Het |
Slc22a16 |
C |
T |
10: 40,479,821 (GRCm39) |
A631V |
unknown |
Het |
Snai3 |
A |
T |
8: 123,183,073 (GRCm39) |
H157Q |
probably benign |
Het |
Snx15 |
T |
C |
19: 6,173,961 (GRCm39) |
Y52C |
probably damaging |
Het |
Strbp |
T |
C |
2: 37,535,504 (GRCm39) |
E68G |
probably benign |
Het |
Sun1 |
T |
A |
5: 139,212,343 (GRCm39) |
D155E |
probably damaging |
Het |
Susd2 |
T |
C |
10: 75,474,183 (GRCm39) |
D627G |
probably benign |
Het |
Tas2r108 |
T |
A |
6: 40,470,614 (GRCm39) |
I30K |
probably damaging |
Het |
Tmc2 |
T |
C |
2: 130,090,571 (GRCm39) |
V639A |
probably damaging |
Het |
Trmt1 |
T |
C |
8: 85,424,299 (GRCm39) |
Y445H |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,597,554 (GRCm39) |
N19786K |
probably damaging |
Het |
Vmn1r79 |
T |
G |
7: 11,910,766 (GRCm39) |
V216G |
probably damaging |
Het |
Zfyve28 |
A |
T |
5: 34,390,721 (GRCm39) |
V180E |
probably damaging |
Het |
Zic4 |
C |
T |
9: 91,261,447 (GRCm39) |
T234I |
possibly 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 |
|
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 |
|
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'- TAGGTATCCTGATCCCTCGG -3'
(R):5'- GAAGGCTTTGTTAAAGTATGACTCC -3'
Sequencing Primer
(F):5'- AGGTATCCTGATCCCTCGGAATTAG -3'
(R):5'- CATATCCAATACCTGCAGTGAATGG -3'
|
Posted On |
2019-06-07 |