Incidental Mutation 'R1757:Pikfyve'
| ID |
194921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pikfyve
|
| Ensembl Gene |
ENSMUSG00000025949 |
| Gene Name |
phosphoinositide kinase, FYVE type zinc finger containing |
| Synonyms |
PipkIII, Pip5k3, 5230400C17Rik |
| MMRRC Submission |
039789-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1757 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
65225842-65317854 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65291707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1309
(I1309V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081154]
[ENSMUST00000097707]
|
| AlphaFold |
Q9Z1T6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081154
AA Change: I1264V
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000079926
Gene: ENSMUSG00000025949
AA Change: I1264V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
81 |
N/A |
INTRINSIC |
|
FYVE
|
161 |
230 |
5.95e-18 |
SMART |
|
DEP
|
376 |
451 |
9.05e-27 |
SMART |
|
Pfam:Cpn60_TCP1
|
547 |
822 |
2e-37 |
PFAM |
|
low complexity region
|
1177 |
1189 |
N/A |
INTRINSIC |
|
low complexity region
|
1516 |
1536 |
N/A |
INTRINSIC |
|
PIPKc
|
1745 |
2039 |
3.03e-162 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097707
AA Change: I1309V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095314
Gene: ENSMUSG00000025949
AA Change: I1309V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
81 |
N/A |
INTRINSIC |
|
FYVE
|
150 |
219 |
5.95e-18 |
SMART |
|
DEP
|
365 |
440 |
9.05e-27 |
SMART |
|
Pfam:Cpn60_TCP1
|
590 |
864 |
1.8e-35 |
PFAM |
|
low complexity region
|
1222 |
1234 |
N/A |
INTRINSIC |
|
low complexity region
|
1561 |
1581 |
N/A |
INTRINSIC |
|
PIPKc
|
1790 |
2084 |
3.03e-162 |
SMART |
|
| Meta Mutation Damage Score |
0.4679 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
| Validation Efficiency |
100% (111/111) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele die prior to implantation with reduced numbers of inner cell mass and trophectoderm cells and blastocoele abnormalities. Mice homozygous for a second null allele show embryonic lethality between somite formation and embryo turning with abnormal visceral endoderm. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(16) : Gene trapped(16) |
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd6 |
A |
T |
14: 8,049,867 (GRCm38) |
I219F |
probably damaging |
Het |
| Acvr1b |
A |
G |
15: 101,096,703 (GRCm39) |
I207V |
possibly damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,585,252 (GRCm39) |
T839A |
probably benign |
Het |
| Akap1 |
C |
T |
11: 88,736,578 (GRCm39) |
R61H |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,051,667 (GRCm39) |
D1478G |
probably benign |
Het |
| Aloxe3 |
T |
A |
11: 69,026,775 (GRCm39) |
V547E |
possibly damaging |
Het |
| Ano6 |
G |
A |
15: 95,860,148 (GRCm39) |
A757T |
probably damaging |
Het |
| Armc10 |
A |
G |
5: 21,858,455 (GRCm39) |
T167A |
probably damaging |
Het |
| BB019430 |
A |
C |
10: 58,539,869 (GRCm39) |
|
noncoding transcript |
Het |
| Brms1 |
C |
T |
19: 5,096,435 (GRCm39) |
R82W |
probably damaging |
Het |
| Btnl6 |
G |
A |
17: 34,733,062 (GRCm39) |
T267I |
probably benign |
Het |
| Catsper4 |
A |
T |
4: 133,945,212 (GRCm39) |
F215L |
probably benign |
Het |
| Ccdc188 |
T |
C |
16: 18,036,552 (GRCm39) |
F197S |
probably damaging |
Het |
| Cers5 |
A |
C |
15: 99,634,212 (GRCm39) |
C379G |
probably benign |
Het |
| Chchd6 |
A |
G |
6: 89,361,626 (GRCm39) |
L259P |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,736,763 (GRCm39) |
C730S |
probably damaging |
Het |
| Coch |
T |
G |
12: 51,649,631 (GRCm39) |
V314G |
probably damaging |
Het |
| Cog1 |
T |
A |
11: 113,543,130 (GRCm39) |
S213T |
possibly damaging |
Het |
| Crot |
A |
T |
5: 9,037,828 (GRCm39) |
F163I |
probably damaging |
Het |
| Cyp4f13 |
A |
T |
17: 33,148,932 (GRCm39) |
I162N |
probably damaging |
Het |
| Dab2 |
A |
T |
15: 6,359,933 (GRCm39) |
|
probably benign |
Het |
| Depdc1b |
C |
T |
13: 108,460,482 (GRCm39) |
R31W |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,425,613 (GRCm39) |
F161S |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,137,965 (GRCm39) |
E913G |
probably damaging |
Het |
| Dnajc6 |
A |
G |
4: 101,455,028 (GRCm39) |
Y5C |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,511,586 (GRCm39) |
T1508A |
probably damaging |
Het |
| Dstyk |
A |
G |
1: 132,361,832 (GRCm39) |
|
probably benign |
Het |
| Efcc1 |
T |
C |
6: 87,726,265 (GRCm39) |
|
probably benign |
Het |
| Entpd1 |
T |
C |
19: 40,727,450 (GRCm39) |
Y533H |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,658,789 (GRCm39) |
|
probably null |
Het |
| Erich3 |
C |
T |
3: 154,401,402 (GRCm39) |
T17M |
probably damaging |
Het |
| Ethe1 |
T |
C |
7: 24,307,899 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
T |
9: 109,386,347 (GRCm39) |
M211K |
probably damaging |
Het |
| Fhod3 |
G |
A |
18: 25,199,335 (GRCm39) |
V669M |
possibly damaging |
Het |
| Fktn |
C |
T |
4: 53,747,003 (GRCm39) |
|
probably benign |
Het |
| Foxred1 |
G |
A |
9: 35,122,130 (GRCm39) |
R20C |
probably benign |
Het |
| Gbp9 |
A |
G |
5: 105,242,319 (GRCm39) |
L140P |
probably damaging |
Het |
| Gga1 |
T |
C |
15: 78,773,230 (GRCm39) |
L286P |
probably damaging |
Het |
| Gml |
T |
C |
15: 74,685,462 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
T |
5: 21,486,035 (GRCm39) |
K628N |
probably damaging |
Het |
| Gtf3c4 |
G |
A |
2: 28,720,648 (GRCm39) |
|
probably benign |
Het |
| H2-M10.6 |
A |
C |
17: 37,124,043 (GRCm39) |
Y169S |
probably benign |
Het |
| Hal |
G |
A |
10: 93,330,490 (GRCm39) |
V245I |
probably benign |
Het |
| Hebp2 |
T |
C |
10: 18,420,849 (GRCm39) |
Y72C |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,878,056 (GRCm39) |
E914G |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,893,455 (GRCm39) |
Y906H |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,028,226 (GRCm39) |
|
probably null |
Het |
| Hgs |
C |
T |
11: 120,370,889 (GRCm39) |
P582S |
probably damaging |
Het |
| Hoxa10 |
G |
A |
6: 52,211,469 (GRCm39) |
P149L |
probably damaging |
Het |
| Inpp5j |
T |
A |
11: 3,454,738 (GRCm39) |
Q4L |
possibly damaging |
Het |
| Ints8 |
A |
C |
4: 11,254,109 (GRCm39) |
M1R |
probably null |
Het |
| Isg15 |
T |
C |
4: 156,284,447 (GRCm39) |
E27G |
possibly damaging |
Het |
| Klf13 |
A |
T |
7: 63,541,513 (GRCm39) |
C205S |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,070,831 (GRCm39) |
Y830F |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,004,378 (GRCm39) |
V17M |
unknown |
Het |
| Lama3 |
A |
G |
18: 12,598,556 (GRCm39) |
N988D |
probably benign |
Het |
| Lcat |
CAT |
C |
8: 106,668,446 (GRCm39) |
|
probably null |
Het |
| Lct |
G |
T |
1: 128,228,994 (GRCm39) |
P833H |
probably damaging |
Het |
| Lmf1 |
A |
T |
17: 25,874,184 (GRCm39) |
R403W |
probably damaging |
Het |
| Me3 |
T |
G |
7: 89,282,230 (GRCm39) |
S38A |
probably benign |
Het |
| Myg1 |
A |
T |
15: 102,240,264 (GRCm39) |
D30V |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,537,610 (GRCm39) |
I2841T |
possibly damaging |
Het |
| Nek1 |
T |
A |
8: 61,542,847 (GRCm39) |
|
probably null |
Het |
| Obsl1 |
C |
T |
1: 75,470,527 (GRCm39) |
R1043H |
probably benign |
Het |
| Or4p23 |
G |
T |
2: 88,576,361 (GRCm39) |
D290E |
probably benign |
Het |
| Or5b119 |
A |
C |
19: 13,456,971 (GRCm39) |
V197G |
possibly damaging |
Het |
| Or6n2 |
A |
T |
1: 173,897,224 (GRCm39) |
Y120F |
probably damaging |
Het |
| Or9m2 |
T |
G |
2: 87,820,926 (GRCm39) |
I157R |
probably damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,921,780 (GRCm39) |
Y613H |
probably damaging |
Het |
| Per3 |
C |
T |
4: 151,127,249 (GRCm39) |
|
probably null |
Het |
| Pex6 |
G |
T |
17: 47,034,424 (GRCm39) |
V758L |
probably damaging |
Het |
| Pimreg |
A |
G |
11: 71,933,985 (GRCm39) |
E37G |
possibly damaging |
Het |
| Pjvk |
G |
A |
2: 76,486,232 (GRCm39) |
V211I |
probably benign |
Het |
| Plekhg4 |
T |
A |
8: 106,108,293 (GRCm39) |
V1112E |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,044,319 (GRCm39) |
M2106K |
probably damaging |
Het |
| Rdh16f2 |
G |
T |
10: 127,712,765 (GRCm39) |
L254F |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,803,343 (GRCm39) |
R485Q |
possibly damaging |
Het |
| Rnf146 |
G |
A |
10: 29,223,475 (GRCm39) |
T137M |
probably damaging |
Het |
| Rrp9 |
T |
A |
9: 106,360,203 (GRCm39) |
C204S |
probably damaging |
Het |
| Rxylt1 |
T |
C |
10: 121,924,920 (GRCm39) |
T261A |
probably benign |
Het |
| Serpinb9h |
T |
C |
13: 33,583,336 (GRCm39) |
S150P |
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,041,776 (GRCm39) |
T693A |
probably benign |
Het |
| Skint9 |
A |
G |
4: 112,271,159 (GRCm39) |
Y84H |
probably benign |
Het |
| Slc22a12 |
A |
T |
19: 6,586,761 (GRCm39) |
|
probably null |
Het |
| Slfn4 |
T |
C |
11: 83,076,211 (GRCm39) |
C26R |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,074,363 (GRCm39) |
L1401P |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,010,110 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,717,568 (GRCm39) |
M316K |
probably damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,790,647 (GRCm39) |
R204G |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,583,058 (GRCm39) |
N442S |
probably benign |
Het |
| Tgfbr3l |
C |
A |
8: 4,299,548 (GRCm39) |
D110E |
probably benign |
Het |
| Ticrr |
T |
G |
7: 79,325,071 (GRCm39) |
S532R |
probably damaging |
Het |
| Ticrr |
C |
A |
7: 79,328,794 (GRCm39) |
Y644* |
probably null |
Het |
| Traf3ip1 |
A |
T |
1: 91,450,579 (GRCm39) |
T509S |
probably damaging |
Het |
| Trmt10b |
T |
C |
4: 45,307,946 (GRCm39) |
Y209H |
probably damaging |
Het |
| Trmt6 |
T |
C |
2: 132,652,157 (GRCm39) |
M172V |
probably damaging |
Het |
| Tsc1 |
A |
G |
2: 28,576,125 (GRCm39) |
D978G |
probably benign |
Het |
| Tshz2 |
C |
A |
2: 169,725,843 (GRCm39) |
F146L |
probably benign |
Het |
| Tspyl4 |
G |
T |
10: 34,173,576 (GRCm39) |
E23* |
probably null |
Het |
| Ulk2 |
A |
T |
11: 61,732,165 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,227,674 (GRCm39) |
I1336F |
probably damaging |
Het |
| Vezt |
T |
C |
10: 93,806,425 (GRCm39) |
D662G |
probably benign |
Het |
| Vnn1 |
G |
T |
10: 23,776,727 (GRCm39) |
Q359H |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,776,726 (GRCm39) |
Q359L |
possibly damaging |
Het |
| Zdhhc16 |
A |
G |
19: 41,930,394 (GRCm39) |
N14S |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,355,601 (GRCm39) |
S225P |
probably damaging |
Het |
| Zfp74 |
T |
A |
7: 29,634,486 (GRCm39) |
E407D |
probably benign |
Het |
| Zic2 |
T |
A |
14: 122,716,031 (GRCm39) |
H384Q |
possibly damaging |
Het |
|
| Other mutations in Pikfyve |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Pikfyve
|
APN |
1 |
65,299,280 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01135:Pikfyve
|
APN |
1 |
65,290,794 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01511:Pikfyve
|
APN |
1 |
65,298,028 (GRCm39) |
nonsense |
probably null |
|
|
IGL01759:Pikfyve
|
APN |
1 |
65,292,512 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01888:Pikfyve
|
APN |
1 |
65,262,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01967:Pikfyve
|
APN |
1 |
65,303,524 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02055:Pikfyve
|
APN |
1 |
65,277,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02119:Pikfyve
|
APN |
1 |
65,311,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02141:Pikfyve
|
APN |
1 |
65,285,556 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02207:Pikfyve
|
APN |
1 |
65,290,837 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02380:Pikfyve
|
APN |
1 |
65,295,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02400:Pikfyve
|
APN |
1 |
65,291,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02403:Pikfyve
|
APN |
1 |
65,283,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02426:Pikfyve
|
APN |
1 |
65,290,771 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02496:Pikfyve
|
APN |
1 |
65,303,535 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02573:Pikfyve
|
APN |
1 |
65,270,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02746:Pikfyve
|
APN |
1 |
65,273,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02814:Pikfyve
|
APN |
1 |
65,289,353 (GRCm39) |
nonsense |
probably null |
|
|
IGL02890:Pikfyve
|
APN |
1 |
65,269,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03102:Pikfyve
|
APN |
1 |
65,291,626 (GRCm39) |
nonsense |
probably null |
|
|
IGL03294:Pikfyve
|
APN |
1 |
65,286,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
falcon
|
UTSW |
1 |
65,235,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
oompa
|
UTSW |
1 |
65,235,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
wonka
|
UTSW |
1 |
65,235,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G5538:Pikfyve
|
UTSW |
1 |
65,242,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Pikfyve
|
UTSW |
1 |
65,255,088 (GRCm39) |
splice site |
probably benign |
|
|
R0196:Pikfyve
|
UTSW |
1 |
65,295,231 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0212:Pikfyve
|
UTSW |
1 |
65,302,064 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0319:Pikfyve
|
UTSW |
1 |
65,285,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0332:Pikfyve
|
UTSW |
1 |
65,303,558 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0389:Pikfyve
|
UTSW |
1 |
65,235,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Pikfyve
|
UTSW |
1 |
65,235,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0503:Pikfyve
|
UTSW |
1 |
65,259,058 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0722:Pikfyve
|
UTSW |
1 |
65,292,682 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0906:Pikfyve
|
UTSW |
1 |
65,292,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0907:Pikfyve
|
UTSW |
1 |
65,241,989 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0970:Pikfyve
|
UTSW |
1 |
65,304,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1188:Pikfyve
|
UTSW |
1 |
65,286,118 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1412:Pikfyve
|
UTSW |
1 |
65,241,989 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1421:Pikfyve
|
UTSW |
1 |
65,310,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Pikfyve
|
UTSW |
1 |
65,290,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1468:Pikfyve
|
UTSW |
1 |
65,290,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1472:Pikfyve
|
UTSW |
1 |
65,263,360 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1478:Pikfyve
|
UTSW |
1 |
65,302,136 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1501:Pikfyve
|
UTSW |
1 |
65,304,443 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1773:Pikfyve
|
UTSW |
1 |
65,285,529 (GRCm39) |
missense |
probably benign |
|
|
R1773:Pikfyve
|
UTSW |
1 |
65,231,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1795:Pikfyve
|
UTSW |
1 |
65,291,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1855:Pikfyve
|
UTSW |
1 |
65,297,957 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1905:Pikfyve
|
UTSW |
1 |
65,231,454 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1995:Pikfyve
|
UTSW |
1 |
65,285,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Pikfyve
|
UTSW |
1 |
65,261,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Pikfyve
|
UTSW |
1 |
65,292,512 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2229:Pikfyve
|
UTSW |
1 |
65,307,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2295:Pikfyve
|
UTSW |
1 |
65,285,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2913:Pikfyve
|
UTSW |
1 |
65,292,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3818:Pikfyve
|
UTSW |
1 |
65,284,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3832:Pikfyve
|
UTSW |
1 |
65,283,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3850:Pikfyve
|
UTSW |
1 |
65,270,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3946:Pikfyve
|
UTSW |
1 |
65,235,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4105:Pikfyve
|
UTSW |
1 |
65,229,679 (GRCm39) |
unclassified |
probably benign |
|
|
R4542:Pikfyve
|
UTSW |
1 |
65,283,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4574:Pikfyve
|
UTSW |
1 |
65,231,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Pikfyve
|
UTSW |
1 |
65,273,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Pikfyve
|
UTSW |
1 |
65,289,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Pikfyve
|
UTSW |
1 |
65,289,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Pikfyve
|
UTSW |
1 |
65,289,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Pikfyve
|
UTSW |
1 |
65,307,005 (GRCm39) |
missense |
probably benign |
|
|
R4716:Pikfyve
|
UTSW |
1 |
65,285,635 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4758:Pikfyve
|
UTSW |
1 |
65,311,674 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4784:Pikfyve
|
UTSW |
1 |
65,307,005 (GRCm39) |
missense |
probably benign |
|
|
R4785:Pikfyve
|
UTSW |
1 |
65,307,005 (GRCm39) |
missense |
probably benign |
|
|
R4805:Pikfyve
|
UTSW |
1 |
65,307,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4831:Pikfyve
|
UTSW |
1 |
65,235,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Pikfyve
|
UTSW |
1 |
65,285,749 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5064:Pikfyve
|
UTSW |
1 |
65,292,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5115:Pikfyve
|
UTSW |
1 |
65,263,276 (GRCm39) |
intron |
probably benign |
|
|
R5265:Pikfyve
|
UTSW |
1 |
65,306,988 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5279:Pikfyve
|
UTSW |
1 |
65,235,858 (GRCm39) |
nonsense |
probably null |
|
|
R5384:Pikfyve
|
UTSW |
1 |
65,283,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5387:Pikfyve
|
UTSW |
1 |
65,304,427 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5461:Pikfyve
|
UTSW |
1 |
65,274,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5467:Pikfyve
|
UTSW |
1 |
65,291,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5560:Pikfyve
|
UTSW |
1 |
65,292,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5575:Pikfyve
|
UTSW |
1 |
65,312,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Pikfyve
|
UTSW |
1 |
65,295,247 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5663:Pikfyve
|
UTSW |
1 |
65,255,187 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5891:Pikfyve
|
UTSW |
1 |
65,241,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Pikfyve
|
UTSW |
1 |
65,292,597 (GRCm39) |
nonsense |
probably null |
|
|
R6026:Pikfyve
|
UTSW |
1 |
65,311,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Pikfyve
|
UTSW |
1 |
65,311,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6101:Pikfyve
|
UTSW |
1 |
65,303,504 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6105:Pikfyve
|
UTSW |
1 |
65,303,504 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6161:Pikfyve
|
UTSW |
1 |
65,255,202 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6287:Pikfyve
|
UTSW |
1 |
65,292,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6290:Pikfyve
|
UTSW |
1 |
65,242,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6296:Pikfyve
|
UTSW |
1 |
65,302,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6516:Pikfyve
|
UTSW |
1 |
65,304,940 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6835:Pikfyve
|
UTSW |
1 |
65,298,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6994:Pikfyve
|
UTSW |
1 |
65,291,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6997:Pikfyve
|
UTSW |
1 |
65,285,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Pikfyve
|
UTSW |
1 |
65,273,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7044:Pikfyve
|
UTSW |
1 |
65,286,013 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7057:Pikfyve
|
UTSW |
1 |
65,286,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7525:Pikfyve
|
UTSW |
1 |
65,283,585 (GRCm39) |
nonsense |
probably null |
|
|
R7558:Pikfyve
|
UTSW |
1 |
65,311,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7625:Pikfyve
|
UTSW |
1 |
65,307,036 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7807:Pikfyve
|
UTSW |
1 |
65,309,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Pikfyve
|
UTSW |
1 |
65,294,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8009:Pikfyve
|
UTSW |
1 |
65,294,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Pikfyve
|
UTSW |
1 |
65,304,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8192:Pikfyve
|
UTSW |
1 |
65,285,554 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8275:Pikfyve
|
UTSW |
1 |
65,292,501 (GRCm39) |
splice site |
probably benign |
|
|
R8307:Pikfyve
|
UTSW |
1 |
65,284,894 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8710:Pikfyve
|
UTSW |
1 |
65,255,155 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8867:Pikfyve
|
UTSW |
1 |
65,283,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8936:Pikfyve
|
UTSW |
1 |
65,310,427 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8940:Pikfyve
|
UTSW |
1 |
65,286,129 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8995:Pikfyve
|
UTSW |
1 |
65,244,746 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9092:Pikfyve
|
UTSW |
1 |
65,283,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9131:Pikfyve
|
UTSW |
1 |
65,285,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Pikfyve
|
UTSW |
1 |
65,235,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Pikfyve
|
UTSW |
1 |
65,291,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Pikfyve
|
UTSW |
1 |
65,291,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9235:Pikfyve
|
UTSW |
1 |
65,299,188 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9368:Pikfyve
|
UTSW |
1 |
65,307,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Pikfyve
|
UTSW |
1 |
65,303,561 (GRCm39) |
missense |
probably benign |
|
|
R9605:Pikfyve
|
UTSW |
1 |
65,303,561 (GRCm39) |
missense |
probably benign |
|
|
R9686:Pikfyve
|
UTSW |
1 |
65,291,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCGTTACTTGCTGTGTGGACT -3'
(R):5'- CAGAGCATTTTCAACAAAGCCCCATC -3'
Sequencing Primer
(F):5'- CTGTGTGGACTGTTTCAAATTTAATG -3'
(R):5'- CTAAAACACAGAAAGGATTGTCTGC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation