Incidental Mutation 'R2132:Wdr17'
ID |
233401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr17
|
Ensembl Gene |
ENSMUSG00000039375 |
Gene Name |
WD repeat domain 17 |
Synonyms |
B230207L18Rik, 3010002I12Rik |
MMRRC Submission |
040135-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2132 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
55082316-55180014 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 55125541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 446
(K446N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127511]
[ENSMUST00000144482]
[ENSMUST00000144711]
[ENSMUST00000150488]
[ENSMUST00000175915]
|
AlphaFold |
E9Q271 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126316
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127511
AA Change: K470N
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115550 Gene: ENSMUSG00000039375 AA Change: K470N
Domain | Start | End | E-Value | Type |
WD40
|
72 |
112 |
8.55e-8 |
SMART |
WD40
|
162 |
202 |
1.58e2 |
SMART |
WD40
|
205 |
252 |
4.26e1 |
SMART |
WD40
|
255 |
298 |
1.15e0 |
SMART |
WD40
|
383 |
422 |
1.59e-7 |
SMART |
WD40
|
425 |
465 |
2.39e0 |
SMART |
WD40
|
468 |
509 |
5.52e-2 |
SMART |
WD40
|
511 |
550 |
4.14e-6 |
SMART |
WD40
|
555 |
595 |
5.14e-11 |
SMART |
WD40
|
598 |
638 |
6.58e-9 |
SMART |
WD40
|
641 |
681 |
6.28e-6 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144482
AA Change: K157N
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134950 Gene: ENSMUSG00000039375 AA Change: K157N
Domain | Start | End | E-Value | Type |
Blast:WD40
|
16 |
65 |
2e-24 |
BLAST |
WD40
|
70 |
109 |
1.59e-7 |
SMART |
WD40
|
112 |
152 |
2.39e0 |
SMART |
WD40
|
155 |
196 |
5.52e-2 |
SMART |
WD40
|
198 |
237 |
4.14e-6 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144711
AA Change: K453N
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117710 Gene: ENSMUSG00000039375 AA Change: K453N
Domain | Start | End | E-Value | Type |
WD40
|
72 |
112 |
8.55e-8 |
SMART |
WD40
|
194 |
235 |
7.64e1 |
SMART |
WD40
|
238 |
281 |
1.15e0 |
SMART |
WD40
|
366 |
405 |
1.59e-7 |
SMART |
WD40
|
408 |
448 |
2.39e0 |
SMART |
WD40
|
451 |
492 |
5.52e-2 |
SMART |
WD40
|
494 |
533 |
4.14e-6 |
SMART |
WD40
|
538 |
578 |
5.14e-11 |
SMART |
WD40
|
581 |
621 |
6.58e-9 |
SMART |
WD40
|
624 |
664 |
6.28e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150488
AA Change: K446N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122326 Gene: ENSMUSG00000039375 AA Change: K446N
Domain | Start | End | E-Value | Type |
WD40
|
48 |
88 |
8.55e-8 |
SMART |
WD40
|
138 |
178 |
1.58e2 |
SMART |
WD40
|
181 |
228 |
4.26e1 |
SMART |
WD40
|
231 |
274 |
1.15e0 |
SMART |
WD40
|
359 |
398 |
1.59e-7 |
SMART |
WD40
|
401 |
441 |
2.39e0 |
SMART |
WD40
|
444 |
485 |
5.52e-2 |
SMART |
WD40
|
487 |
526 |
4.14e-6 |
SMART |
WD40
|
531 |
571 |
5.14e-11 |
SMART |
WD40
|
574 |
614 |
6.58e-9 |
SMART |
WD40
|
617 |
657 |
6.28e-6 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000175915
AA Change: K446N
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000135805 Gene: ENSMUSG00000039375 AA Change: K446N
Domain | Start | End | E-Value | Type |
WD40
|
48 |
88 |
8.55e-8 |
SMART |
WD40
|
138 |
178 |
1.58e2 |
SMART |
WD40
|
181 |
228 |
4.26e1 |
SMART |
WD40
|
231 |
274 |
1.15e0 |
SMART |
WD40
|
359 |
398 |
1.59e-7 |
SMART |
WD40
|
401 |
441 |
2.39e0 |
SMART |
WD40
|
444 |
485 |
5.52e-2 |
SMART |
WD40
|
487 |
526 |
4.14e-6 |
SMART |
WD40
|
531 |
571 |
5.14e-11 |
SMART |
WD40
|
574 |
614 |
6.58e-9 |
SMART |
WD40
|
617 |
657 |
6.28e-6 |
SMART |
|
Meta Mutation Damage Score |
0.1182 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
94% (117/124) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 122 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
G |
5: 88,112,335 (GRCm39) |
|
probably benign |
Het |
4930562C15Rik |
A |
C |
16: 4,653,835 (GRCm39) |
Q128P |
unknown |
Het |
Abcc3 |
T |
A |
11: 94,258,426 (GRCm39) |
K473M |
probably benign |
Het |
Acacb |
TGGGG |
TGGG |
5: 114,347,828 (GRCm39) |
|
probably null |
Het |
Adgrg7 |
C |
A |
16: 56,588,281 (GRCm39) |
A199S |
probably damaging |
Het |
Akap13 |
G |
T |
7: 75,261,182 (GRCm39) |
A1269S |
probably benign |
Het |
Aox3 |
A |
G |
1: 58,209,002 (GRCm39) |
H845R |
probably damaging |
Het |
Ap2b1 |
T |
A |
11: 83,215,587 (GRCm39) |
|
probably benign |
Het |
Atat1 |
A |
G |
17: 36,220,331 (GRCm39) |
S54P |
probably damaging |
Het |
Atp13a2 |
T |
A |
4: 140,732,327 (GRCm39) |
M864K |
probably damaging |
Het |
B3gnt3 |
G |
A |
8: 72,145,971 (GRCm39) |
T186M |
probably damaging |
Het |
Cars1 |
C |
A |
7: 143,146,211 (GRCm39) |
R71M |
probably damaging |
Het |
Castor2 |
G |
A |
5: 134,164,992 (GRCm39) |
C187Y |
probably damaging |
Het |
Ccdc157 |
A |
T |
11: 4,100,004 (GRCm39) |
V116E |
probably damaging |
Het |
Ccdc85a |
G |
A |
11: 28,384,151 (GRCm39) |
T408I |
probably benign |
Het |
Celf1 |
G |
T |
2: 90,840,791 (GRCm39) |
G353W |
probably damaging |
Het |
Celsr1 |
T |
A |
15: 85,916,168 (GRCm39) |
I602F |
possibly damaging |
Het |
Cenpb |
C |
T |
2: 131,021,226 (GRCm39) |
V191M |
probably damaging |
Het |
Cenpn |
G |
A |
8: 117,661,536 (GRCm39) |
|
probably null |
Het |
Cfap65 |
A |
C |
1: 74,946,850 (GRCm39) |
C1287G |
probably damaging |
Het |
Cmya5 |
G |
A |
13: 93,205,891 (GRCm39) |
T3326I |
probably damaging |
Het |
Cnn3 |
A |
T |
3: 121,245,584 (GRCm39) |
E100V |
probably damaging |
Het |
Col4a4 |
G |
A |
1: 82,475,581 (GRCm39) |
R583C |
unknown |
Het |
Commd7 |
A |
C |
2: 153,463,586 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
T |
C |
15: 48,320,899 (GRCm39) |
T304A |
probably benign |
Het |
Cyp4a14 |
A |
T |
4: 115,348,588 (GRCm39) |
S325R |
probably damaging |
Het |
Dclk2 |
T |
C |
3: 86,827,353 (GRCm39) |
N42S |
probably benign |
Het |
Dmrta1 |
A |
T |
4: 89,576,946 (GRCm39) |
Q134L |
probably damaging |
Het |
Dnaaf3 |
T |
A |
7: 4,526,800 (GRCm39) |
I426L |
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,924,573 (GRCm39) |
L3999F |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
Dsg1a |
T |
A |
18: 20,473,854 (GRCm39) |
S976T |
probably damaging |
Het |
Dstyk |
T |
A |
1: 132,377,222 (GRCm39) |
M29K |
probably null |
Het |
Eif3i |
A |
T |
4: 129,490,719 (GRCm39) |
H18Q |
probably benign |
Het |
Epm2a |
A |
G |
10: 11,219,426 (GRCm39) |
E71G |
probably benign |
Het |
Eps15l1 |
A |
T |
8: 73,140,712 (GRCm39) |
V260D |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,568,042 (GRCm39) |
N34S |
probably damaging |
Het |
Fat3 |
A |
G |
9: 16,158,015 (GRCm39) |
|
probably null |
Het |
Fbxw10 |
T |
A |
11: 62,750,683 (GRCm39) |
I422N |
probably damaging |
Het |
Fcgbpl1 |
C |
T |
7: 27,854,899 (GRCm39) |
P1842S |
probably damaging |
Het |
Fkbp15 |
C |
A |
4: 62,246,136 (GRCm39) |
G431W |
probably damaging |
Het |
Flnb |
A |
C |
14: 7,873,376 (GRCm38) |
D224A |
probably benign |
Het |
Flnc |
G |
A |
6: 29,443,675 (GRCm39) |
V566M |
probably damaging |
Het |
Gli3 |
T |
A |
13: 15,900,134 (GRCm39) |
S1174T |
possibly damaging |
Het |
Glmn |
A |
T |
5: 107,726,321 (GRCm39) |
V93E |
probably damaging |
Het |
Glrx2 |
T |
C |
1: 143,620,842 (GRCm39) |
S74P |
possibly damaging |
Het |
Gm5422 |
G |
A |
10: 31,124,929 (GRCm39) |
|
noncoding transcript |
Het |
Gpi1 |
T |
C |
7: 33,905,339 (GRCm39) |
K362E |
probably damaging |
Het |
Gtpbp2 |
T |
C |
17: 46,472,128 (GRCm39) |
M21T |
probably benign |
Het |
Gxylt1 |
A |
G |
15: 93,142,851 (GRCm39) |
*405R |
probably null |
Het |
Heyl |
T |
C |
4: 123,139,876 (GRCm39) |
V145A |
probably damaging |
Het |
Hhipl1 |
A |
C |
12: 108,277,949 (GRCm39) |
E92D |
probably damaging |
Het |
Ifi207 |
A |
G |
1: 173,557,337 (GRCm39) |
F467S |
possibly damaging |
Het |
Ift70b |
G |
T |
2: 75,767,129 (GRCm39) |
H541Q |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,941,095 (GRCm39) |
I462N |
probably benign |
Het |
Inpp5b |
A |
T |
4: 124,678,961 (GRCm39) |
|
probably benign |
Het |
Kansl2 |
A |
G |
15: 98,427,278 (GRCm39) |
I201T |
probably damaging |
Het |
Kcnh8 |
T |
C |
17: 53,200,961 (GRCm39) |
V465A |
probably damaging |
Het |
Kcnu1 |
T |
A |
8: 26,341,928 (GRCm39) |
I91N |
probably damaging |
Het |
Kif5c |
T |
A |
2: 49,648,817 (GRCm39) |
|
probably benign |
Het |
Klrc3 |
T |
A |
6: 129,618,501 (GRCm39) |
Y94F |
probably benign |
Het |
Lgals3bp |
T |
A |
11: 118,284,113 (GRCm39) |
T489S |
probably benign |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lmtk2 |
C |
T |
5: 144,111,806 (GRCm39) |
T842I |
possibly damaging |
Het |
Magel2 |
A |
T |
7: 62,027,486 (GRCm39) |
H130L |
unknown |
Het |
Magi1 |
T |
C |
6: 93,674,255 (GRCm39) |
E951G |
probably damaging |
Het |
Mcm7 |
T |
C |
5: 138,167,364 (GRCm39) |
Q86R |
probably damaging |
Het |
Med12l |
G |
T |
3: 59,172,703 (GRCm39) |
|
probably null |
Het |
Morc2a |
A |
G |
11: 3,629,787 (GRCm39) |
E402G |
possibly damaging |
Het |
Mphosph8 |
T |
C |
14: 56,916,161 (GRCm39) |
C486R |
probably benign |
Het |
Mpo |
A |
G |
11: 87,688,187 (GRCm39) |
D282G |
possibly damaging |
Het |
Mtcl1 |
G |
T |
17: 66,650,618 (GRCm39) |
H1616N |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,698,115 (GRCm39) |
|
probably benign |
Het |
Myh8 |
A |
G |
11: 67,183,702 (GRCm39) |
E777G |
probably damaging |
Het |
Nid1 |
A |
G |
13: 13,684,071 (GRCm39) |
H1186R |
probably benign |
Het |
Nppb |
T |
A |
4: 148,070,454 (GRCm39) |
S8T |
probably benign |
Het |
Nrp1 |
A |
T |
8: 129,224,997 (GRCm39) |
E782D |
probably damaging |
Het |
Ntrk3 |
G |
A |
7: 78,127,683 (GRCm39) |
|
probably benign |
Het |
Or1ak2 |
A |
G |
2: 36,827,704 (GRCm39) |
N191S |
probably benign |
Het |
Or1j13 |
A |
G |
2: 36,370,059 (GRCm39) |
S28P |
possibly damaging |
Het |
Or2f1 |
C |
A |
6: 42,721,069 (GRCm39) |
L33M |
possibly damaging |
Het |
Or5al5 |
A |
G |
2: 85,961,605 (GRCm39) |
V134A |
possibly damaging |
Het |
Or5b99 |
T |
A |
19: 12,976,402 (GRCm39) |
D17E |
probably benign |
Het |
Or6f1 |
C |
T |
7: 85,970,687 (GRCm39) |
V158M |
possibly damaging |
Het |
Osbpl6 |
T |
A |
2: 76,416,558 (GRCm39) |
I546K |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,160,523 (GRCm39) |
V212A |
probably damaging |
Het |
Pate6 |
T |
G |
9: 35,701,039 (GRCm39) |
|
probably benign |
Het |
Pdlim4 |
A |
G |
11: 53,954,563 (GRCm39) |
L48S |
possibly damaging |
Het |
Phactr3 |
T |
C |
2: 177,925,759 (GRCm39) |
F345L |
probably benign |
Het |
Plcb1 |
T |
A |
2: 135,167,587 (GRCm39) |
Y460* |
probably null |
Het |
Prcp |
T |
A |
7: 92,550,488 (GRCm39) |
V95D |
probably benign |
Het |
Rfwd3 |
A |
T |
8: 112,024,034 (GRCm39) |
V96E |
probably benign |
Het |
Ror1 |
A |
G |
4: 100,267,222 (GRCm39) |
N308D |
probably benign |
Het |
Sdccag8 |
C |
A |
1: 176,783,455 (GRCm39) |
Q655K |
probably damaging |
Het |
Senp1 |
T |
A |
15: 97,973,848 (GRCm39) |
T132S |
probably benign |
Het |
Skap1 |
T |
C |
11: 96,355,559 (GRCm39) |
I10T |
possibly damaging |
Het |
Slc9a4 |
T |
G |
1: 40,646,901 (GRCm39) |
|
probably null |
Het |
Smad2 |
T |
A |
18: 76,421,155 (GRCm39) |
C161* |
probably null |
Het |
Spata31d1a |
G |
T |
13: 59,848,857 (GRCm39) |
D1090E |
probably damaging |
Het |
Stard13 |
T |
C |
5: 150,968,633 (GRCm39) |
Y879C |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,935,724 (GRCm39) |
T1775A |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,145,463 (GRCm39) |
T595S |
probably benign |
Het |
Terf1 |
A |
G |
1: 15,875,909 (GRCm39) |
E3G |
probably benign |
Het |
Tjp3 |
T |
A |
10: 81,113,888 (GRCm39) |
M457L |
possibly damaging |
Het |
Tnfrsf26 |
C |
T |
7: 143,171,577 (GRCm39) |
|
probably null |
Het |
Tor1aip1 |
A |
C |
1: 155,883,308 (GRCm39) |
M180R |
probably damaging |
Het |
Trabd2b |
A |
T |
4: 114,467,205 (GRCm39) |
Q478L |
probably benign |
Het |
Trim41 |
C |
A |
11: 48,698,419 (GRCm39) |
G516W |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,299,903 (GRCm39) |
Y464C |
probably damaging |
Het |
Unc5a |
A |
G |
13: 55,138,896 (GRCm39) |
S92G |
probably damaging |
Het |
Unc5d |
A |
C |
8: 29,365,557 (GRCm39) |
S143A |
possibly damaging |
Het |
Usp34 |
A |
T |
11: 23,414,556 (GRCm39) |
H2833L |
possibly damaging |
Het |
Vps35l |
T |
C |
7: 118,393,798 (GRCm39) |
Y516H |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,338,392 (GRCm39) |
Q211L |
possibly damaging |
Het |
Xkr7 |
G |
A |
2: 152,894,816 (GRCm39) |
R256Q |
probably benign |
Het |
Zfp236 |
T |
C |
18: 82,639,429 (GRCm39) |
M1225V |
probably benign |
Het |
Zfp268 |
T |
A |
4: 145,350,803 (GRCm39) |
|
probably benign |
Het |
Zfp280d |
T |
C |
9: 72,215,287 (GRCm39) |
F133L |
probably damaging |
Het |
Zfp747l1 |
T |
C |
7: 126,986,107 (GRCm39) |
D8G |
probably benign |
Het |
Zfp758 |
A |
G |
17: 22,594,951 (GRCm39) |
H479R |
probably damaging |
Het |
Zfp827 |
A |
G |
8: 79,912,350 (GRCm39) |
N284S |
possibly damaging |
Het |
Zfyve26 |
T |
A |
12: 79,315,208 (GRCm39) |
I1423F |
possibly damaging |
Het |
|
Other mutations in Wdr17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00309:Wdr17
|
APN |
8 |
55,140,746 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00496:Wdr17
|
APN |
8 |
55,112,614 (GRCm39) |
splice site |
probably benign |
|
IGL01318:Wdr17
|
APN |
8 |
55,125,585 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01347:Wdr17
|
APN |
8 |
55,104,380 (GRCm39) |
missense |
probably benign |
|
IGL01654:Wdr17
|
APN |
8 |
55,115,914 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02010:Wdr17
|
APN |
8 |
55,112,738 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02085:Wdr17
|
APN |
8 |
55,140,771 (GRCm39) |
nonsense |
probably null |
|
IGL02205:Wdr17
|
APN |
8 |
55,149,335 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02375:Wdr17
|
APN |
8 |
55,149,423 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02705:Wdr17
|
APN |
8 |
55,101,250 (GRCm39) |
splice site |
probably null |
|
IGL02719:Wdr17
|
APN |
8 |
55,146,089 (GRCm39) |
splice site |
probably null |
|
IGL03051:Wdr17
|
APN |
8 |
55,104,349 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03131:Wdr17
|
APN |
8 |
55,149,302 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03172:Wdr17
|
APN |
8 |
55,114,515 (GRCm39) |
missense |
probably damaging |
0.96 |
enthralled
|
UTSW |
8 |
55,112,716 (GRCm39) |
missense |
possibly damaging |
0.85 |
riveted
|
UTSW |
8 |
55,085,522 (GRCm39) |
missense |
probably benign |
0.00 |
thrilled
|
UTSW |
8 |
55,149,303 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03138:Wdr17
|
UTSW |
8 |
55,102,178 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4458001:Wdr17
|
UTSW |
8 |
55,126,614 (GRCm39) |
nonsense |
probably null |
|
R0011:Wdr17
|
UTSW |
8 |
55,125,536 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0011:Wdr17
|
UTSW |
8 |
55,125,536 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0124:Wdr17
|
UTSW |
8 |
55,088,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R0226:Wdr17
|
UTSW |
8 |
55,116,043 (GRCm39) |
missense |
probably benign |
0.08 |
R0270:Wdr17
|
UTSW |
8 |
55,146,131 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0271:Wdr17
|
UTSW |
8 |
55,146,131 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0288:Wdr17
|
UTSW |
8 |
55,146,131 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0321:Wdr17
|
UTSW |
8 |
55,149,303 (GRCm39) |
critical splice donor site |
probably null |
|
R0464:Wdr17
|
UTSW |
8 |
55,123,427 (GRCm39) |
splice site |
probably benign |
|
R0479:Wdr17
|
UTSW |
8 |
55,104,456 (GRCm39) |
splice site |
probably null |
|
R0488:Wdr17
|
UTSW |
8 |
55,146,087 (GRCm39) |
unclassified |
probably benign |
|
R0552:Wdr17
|
UTSW |
8 |
55,146,131 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0553:Wdr17
|
UTSW |
8 |
55,146,131 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0600:Wdr17
|
UTSW |
8 |
55,114,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R0621:Wdr17
|
UTSW |
8 |
55,096,226 (GRCm39) |
missense |
probably benign |
0.18 |
R0655:Wdr17
|
UTSW |
8 |
55,102,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R0730:Wdr17
|
UTSW |
8 |
55,146,131 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0789:Wdr17
|
UTSW |
8 |
55,112,607 (GRCm39) |
splice site |
probably benign |
|
R0854:Wdr17
|
UTSW |
8 |
55,156,916 (GRCm39) |
missense |
probably benign |
|
R0879:Wdr17
|
UTSW |
8 |
55,114,516 (GRCm39) |
missense |
probably benign |
0.08 |
R1462:Wdr17
|
UTSW |
8 |
55,123,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R1462:Wdr17
|
UTSW |
8 |
55,123,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R1497:Wdr17
|
UTSW |
8 |
55,125,536 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1589:Wdr17
|
UTSW |
8 |
55,156,942 (GRCm39) |
intron |
probably benign |
|
R1618:Wdr17
|
UTSW |
8 |
55,092,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R1768:Wdr17
|
UTSW |
8 |
55,126,689 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1778:Wdr17
|
UTSW |
8 |
55,143,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R1819:Wdr17
|
UTSW |
8 |
55,143,159 (GRCm39) |
missense |
probably benign |
0.18 |
R1913:Wdr17
|
UTSW |
8 |
55,140,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R2129:Wdr17
|
UTSW |
8 |
55,085,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R2309:Wdr17
|
UTSW |
8 |
55,096,283 (GRCm39) |
missense |
probably benign |
|
R3882:Wdr17
|
UTSW |
8 |
55,092,536 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4097:Wdr17
|
UTSW |
8 |
55,088,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R4372:Wdr17
|
UTSW |
8 |
55,092,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R4380:Wdr17
|
UTSW |
8 |
55,101,442 (GRCm39) |
intron |
probably benign |
|
R4480:Wdr17
|
UTSW |
8 |
55,117,999 (GRCm39) |
critical splice donor site |
probably null |
|
R4654:Wdr17
|
UTSW |
8 |
55,134,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R4656:Wdr17
|
UTSW |
8 |
55,134,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Wdr17
|
UTSW |
8 |
55,143,083 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4719:Wdr17
|
UTSW |
8 |
55,092,911 (GRCm39) |
missense |
probably benign |
0.33 |
R4912:Wdr17
|
UTSW |
8 |
55,082,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R5000:Wdr17
|
UTSW |
8 |
55,118,161 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5073:Wdr17
|
UTSW |
8 |
55,143,271 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5176:Wdr17
|
UTSW |
8 |
55,106,913 (GRCm39) |
critical splice donor site |
probably null |
|
R5194:Wdr17
|
UTSW |
8 |
55,140,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R5270:Wdr17
|
UTSW |
8 |
55,096,221 (GRCm39) |
missense |
probably benign |
0.20 |
R5300:Wdr17
|
UTSW |
8 |
55,134,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5325:Wdr17
|
UTSW |
8 |
55,112,716 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5336:Wdr17
|
UTSW |
8 |
55,085,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R5394:Wdr17
|
UTSW |
8 |
55,092,524 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5424:Wdr17
|
UTSW |
8 |
55,134,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5425:Wdr17
|
UTSW |
8 |
55,134,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5426:Wdr17
|
UTSW |
8 |
55,134,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5548:Wdr17
|
UTSW |
8 |
55,156,886 (GRCm39) |
missense |
probably damaging |
0.97 |
R5681:Wdr17
|
UTSW |
8 |
55,115,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R5722:Wdr17
|
UTSW |
8 |
55,113,806 (GRCm39) |
critical splice donor site |
probably null |
|
R5894:Wdr17
|
UTSW |
8 |
55,149,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R5906:Wdr17
|
UTSW |
8 |
55,092,503 (GRCm39) |
missense |
probably benign |
0.33 |
R6038:Wdr17
|
UTSW |
8 |
55,085,346 (GRCm39) |
critical splice donor site |
probably null |
|
R6038:Wdr17
|
UTSW |
8 |
55,085,346 (GRCm39) |
critical splice donor site |
probably null |
|
R6391:Wdr17
|
UTSW |
8 |
55,114,495 (GRCm39) |
missense |
probably benign |
0.04 |
R6605:Wdr17
|
UTSW |
8 |
55,134,559 (GRCm39) |
missense |
probably benign |
0.16 |
R6892:Wdr17
|
UTSW |
8 |
55,126,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R7019:Wdr17
|
UTSW |
8 |
55,134,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R7257:Wdr17
|
UTSW |
8 |
55,085,522 (GRCm39) |
missense |
probably benign |
0.00 |
R7481:Wdr17
|
UTSW |
8 |
55,114,371 (GRCm39) |
missense |
probably benign |
|
R7868:Wdr17
|
UTSW |
8 |
55,149,302 (GRCm39) |
critical splice donor site |
probably null |
|
R7939:Wdr17
|
UTSW |
8 |
55,140,677 (GRCm39) |
missense |
probably damaging |
0.98 |
R7962:Wdr17
|
UTSW |
8 |
55,113,806 (GRCm39) |
critical splice donor site |
probably null |
|
R8017:Wdr17
|
UTSW |
8 |
55,091,403 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8122:Wdr17
|
UTSW |
8 |
55,118,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R8226:Wdr17
|
UTSW |
8 |
55,146,155 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8251:Wdr17
|
UTSW |
8 |
55,110,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R8413:Wdr17
|
UTSW |
8 |
55,115,953 (GRCm39) |
missense |
probably benign |
0.08 |
R8534:Wdr17
|
UTSW |
8 |
55,101,265 (GRCm39) |
missense |
probably benign |
0.08 |
R8708:Wdr17
|
UTSW |
8 |
55,093,127 (GRCm39) |
intron |
probably benign |
|
R9116:Wdr17
|
UTSW |
8 |
55,114,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R9258:Wdr17
|
UTSW |
8 |
55,112,654 (GRCm39) |
nonsense |
probably null |
|
R9351:Wdr17
|
UTSW |
8 |
55,143,057 (GRCm39) |
missense |
probably benign |
0.00 |
R9475:Wdr17
|
UTSW |
8 |
55,088,512 (GRCm39) |
missense |
probably benign |
0.00 |
R9546:Wdr17
|
UTSW |
8 |
55,112,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R9547:Wdr17
|
UTSW |
8 |
55,112,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R9635:Wdr17
|
UTSW |
8 |
55,101,375 (GRCm39) |
missense |
probably damaging |
0.98 |
V5088:Wdr17
|
UTSW |
8 |
55,146,131 (GRCm39) |
missense |
possibly damaging |
0.85 |
V5622:Wdr17
|
UTSW |
8 |
55,146,131 (GRCm39) |
missense |
possibly damaging |
0.85 |
V5622:Wdr17
|
UTSW |
8 |
55,146,131 (GRCm39) |
missense |
possibly damaging |
0.85 |
X0022:Wdr17
|
UTSW |
8 |
55,092,529 (GRCm39) |
missense |
probably benign |
0.04 |
X0066:Wdr17
|
UTSW |
8 |
55,126,595 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Wdr17
|
UTSW |
8 |
55,123,414 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Wdr17
|
UTSW |
8 |
55,096,220 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCAGGTAAGACTTTGGGG -3'
(R):5'- TTTCAAAGGCATACACATACCCTTC -3'
Sequencing Primer
(F):5'- ACCAGGTAAGACTTTGGGGTTTCTG -3'
(R):5'- GCATTGCTGGTGCAACT -3'
|
Posted On |
2014-10-01 |