Incidental Mutation 'R0626:Pi4ka'
| ID |
57549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4ka
|
| Ensembl Gene |
ENSMUSG00000041720 |
| Gene Name |
phosphatidylinositol 4-kinase alpha |
| Synonyms |
Pik4ca |
| MMRRC Submission |
038815-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0626 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17098215-17224178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17111765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 1570
(Y1570F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036161]
[ENSMUST00000154364]
[ENSMUST00000232232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036161
AA Change: Y1570F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: Y1570F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
253 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
268 |
675 |
2e-3 |
SMART |
|
low complexity region
|
895 |
907 |
N/A |
INTRINSIC |
|
PI3Ka
|
1483 |
1671 |
2.11e-54 |
SMART |
|
Blast:PI3Kc
|
1688 |
1762 |
2e-39 |
BLAST |
|
PI3Kc
|
1788 |
2041 |
4.04e-106 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154364
AA Change: Y1570F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: Y1570F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
253 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
268 |
675 |
2e-3 |
SMART |
|
low complexity region
|
895 |
907 |
N/A |
INTRINSIC |
|
PI3Ka
|
1483 |
1671 |
2.11e-54 |
SMART |
|
Blast:PI3Kc
|
1688 |
1762 |
2e-39 |
BLAST |
|
PI3Kc
|
1788 |
2041 |
4.04e-106 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231683
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232232
AA Change: Y1570F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,679,547 (GRCm39) |
|
probably benign |
Het |
| 6430571L13Rik |
T |
A |
9: 107,219,707 (GRCm39) |
D53E |
possibly damaging |
Het |
| A2ml1 |
T |
A |
6: 128,527,736 (GRCm39) |
N1018I |
probably damaging |
Het |
| Abi3 |
C |
A |
11: 95,727,937 (GRCm39) |
A85S |
probably benign |
Het |
| Acsl5 |
A |
T |
19: 55,272,904 (GRCm39) |
M340L |
probably benign |
Het |
| Adam29 |
T |
A |
8: 56,324,612 (GRCm39) |
H614L |
probably benign |
Het |
| Adgrg6 |
A |
T |
10: 14,312,628 (GRCm39) |
S720T |
probably damaging |
Het |
| Adrb2 |
G |
T |
18: 62,312,441 (GRCm39) |
A128E |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,872,291 (GRCm39) |
E510G |
probably benign |
Het |
| Angel1 |
A |
G |
12: 86,764,487 (GRCm39) |
|
probably null |
Het |
| Aox3 |
T |
G |
1: 58,211,458 (GRCm39) |
I1005S |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,451,507 (GRCm39) |
P2767Q |
probably damaging |
Het |
| Apob |
T |
G |
12: 8,066,193 (GRCm39) |
D4387E |
probably benign |
Het |
| Apobr |
T |
C |
7: 126,185,827 (GRCm39) |
V446A |
possibly damaging |
Het |
| Arhgap28 |
A |
T |
17: 68,203,108 (GRCm39) |
|
probably null |
Het |
| Aspm |
G |
T |
1: 139,419,339 (GRCm39) |
K3001N |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,655,937 (GRCm39) |
V1316F |
probably benign |
Het |
| Atp2a1 |
T |
A |
7: 126,046,162 (GRCm39) |
|
probably null |
Het |
| Bach1 |
A |
G |
16: 87,526,359 (GRCm39) |
D607G |
possibly damaging |
Het |
| Batf3 |
A |
G |
1: 190,832,935 (GRCm39) |
D27G |
probably damaging |
Het |
| Baz1a |
G |
T |
12: 55,022,055 (GRCm39) |
Q76K |
probably damaging |
Het |
| Bdnf |
G |
A |
2: 109,553,883 (GRCm39) |
V86M |
probably benign |
Het |
| Birc7 |
A |
G |
2: 180,573,098 (GRCm39) |
I172V |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,988,880 (GRCm39) |
V409G |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,364,563 (GRCm39) |
E337V |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,612,520 (GRCm39) |
F287L |
possibly damaging |
Het |
| Ces1e |
A |
G |
8: 93,950,671 (GRCm39) |
Y37H |
probably benign |
Het |
| Clasrp |
A |
T |
7: 19,318,418 (GRCm39) |
|
probably benign |
Het |
| Clec2d |
T |
A |
6: 129,160,090 (GRCm39) |
S35T |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,639,539 (GRCm39) |
D556E |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,349,422 (GRCm39) |
D245V |
probably benign |
Het |
| Col5a1 |
T |
A |
2: 27,818,255 (GRCm39) |
L160* |
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,654,943 (GRCm39) |
E926G |
probably benign |
Het |
| Cpsf2 |
T |
A |
12: 101,951,490 (GRCm39) |
H142Q |
probably benign |
Het |
| Cr2 |
A |
C |
1: 194,853,419 (GRCm39) |
S20A |
possibly damaging |
Het |
| Ct45a |
G |
A |
X: 55,590,399 (GRCm39) |
P134L |
probably benign |
Het |
| Cyp2j5 |
A |
T |
4: 96,547,749 (GRCm39) |
H164Q |
probably benign |
Het |
| D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,703,811 (GRCm39) |
V1124M |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,323,838 (GRCm39) |
H1182R |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,368,509 (GRCm39) |
S1709T |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,560,844 (GRCm39) |
V776A |
probably damaging |
Het |
| Emc3 |
T |
C |
6: 113,492,992 (GRCm39) |
T220A |
probably benign |
Het |
| Entpd1 |
A |
C |
19: 40,715,769 (GRCm39) |
N312T |
probably benign |
Het |
| Fam8a1 |
A |
T |
13: 46,824,699 (GRCm39) |
I229F |
probably damaging |
Het |
| Fancc |
G |
A |
13: 63,465,205 (GRCm39) |
P501S |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,702,751 (GRCm39) |
R1704G |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,819,302 (GRCm39) |
I5012V |
probably benign |
Het |
| Glce |
T |
C |
9: 61,968,282 (GRCm39) |
T290A |
probably benign |
Het |
| Gns |
G |
A |
10: 121,219,349 (GRCm39) |
|
probably null |
Het |
| Gsdma2 |
A |
G |
11: 98,542,810 (GRCm39) |
N190S |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,415,887 (GRCm39) |
S563T |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,674,470 (GRCm39) |
|
probably null |
Het |
| Jup |
A |
T |
11: 100,267,589 (GRCm39) |
M578K |
probably benign |
Het |
| Kir3dl1 |
G |
A |
X: 135,434,594 (GRCm39) |
|
probably null |
Het |
| Krt75 |
A |
G |
15: 101,482,025 (GRCm39) |
F81S |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,403,233 (GRCm39) |
D2113E |
probably damaging |
Het |
| Maged2 |
T |
A |
X: 149,594,830 (GRCm39) |
N176Y |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,333,382 (GRCm39) |
C1354* |
probably null |
Het |
| Mup7 |
A |
C |
4: 60,069,742 (GRCm39) |
V74G |
possibly damaging |
Het |
| Naca |
A |
G |
10: 127,877,031 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
G |
10: 109,659,325 (GRCm39) |
Y764S |
probably damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,257,099 (GRCm39) |
T293S |
probably benign |
Het |
| Numb |
A |
G |
12: 83,842,614 (GRCm39) |
Y510H |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,105,492 (GRCm39) |
L834R |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or2ak5 |
G |
T |
11: 58,611,347 (GRCm39) |
H176N |
probably benign |
Het |
| Or8g18 |
T |
A |
9: 39,149,162 (GRCm39) |
N186I |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,920,797 (GRCm39) |
V1000A |
possibly damaging |
Het |
| Pafah1b3 |
A |
G |
7: 24,996,554 (GRCm39) |
V43A |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,030,450 (GRCm39) |
Y1775C |
possibly damaging |
Het |
| Phka1 |
G |
A |
X: 101,564,437 (GRCm39) |
R1074C |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,152,329 (GRCm39) |
K2588E |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,794,549 (GRCm39) |
T2079A |
probably damaging |
Het |
| Plekhd1 |
G |
T |
12: 80,764,075 (GRCm39) |
Q212H |
probably damaging |
Het |
| Plekhh1 |
C |
T |
12: 79,087,359 (GRCm39) |
R16* |
probably null |
Het |
| Polm |
C |
A |
11: 5,786,207 (GRCm39) |
R120L |
probably damaging |
Het |
| Ptpn22 |
T |
C |
3: 103,767,721 (GRCm39) |
M1T |
probably null |
Het |
| Ptprh |
G |
A |
7: 4,567,271 (GRCm39) |
L534F |
probably benign |
Het |
| Rabl6 |
C |
T |
2: 25,482,778 (GRCm39) |
|
probably null |
Het |
| Rap2a |
A |
G |
14: 120,716,403 (GRCm39) |
S89G |
probably damaging |
Het |
| Rara |
A |
T |
11: 98,862,406 (GRCm39) |
|
probably null |
Het |
| Reck |
A |
G |
4: 43,930,295 (GRCm39) |
D623G |
probably benign |
Het |
| Relt |
A |
T |
7: 100,498,023 (GRCm39) |
L237Q |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,329,598 (GRCm39) |
|
probably null |
Het |
| Rtn4rl2 |
T |
G |
2: 84,710,763 (GRCm39) |
Y167S |
probably damaging |
Het |
| Sec24c |
C |
T |
14: 20,738,505 (GRCm39) |
R353C |
probably damaging |
Het |
| Slc35g2 |
T |
C |
9: 100,435,495 (GRCm39) |
S59G |
probably benign |
Het |
| Smarcd2 |
A |
T |
11: 106,158,241 (GRCm39) |
M107K |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,781,606 (GRCm39) |
N1227S |
possibly damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,063,734 (GRCm39) |
N638D |
possibly damaging |
Het |
| Sntb1 |
A |
G |
15: 55,506,179 (GRCm39) |
S465P |
probably benign |
Het |
| Sp4 |
A |
G |
12: 118,263,314 (GRCm39) |
L244P |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,887,716 (GRCm39) |
|
probably null |
Het |
| Tbc1d17 |
T |
C |
7: 44,492,509 (GRCm39) |
T385A |
probably benign |
Het |
| Tbx10 |
C |
A |
19: 4,047,873 (GRCm39) |
D206E |
probably benign |
Het |
| Tcea2 |
C |
T |
2: 181,329,431 (GRCm39) |
P275S |
probably damaging |
Het |
| Tns3 |
C |
A |
11: 8,443,121 (GRCm39) |
R414L |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,852,235 (GRCm39) |
R610G |
possibly damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,720 (GRCm39) |
K213R |
probably null |
Het |
| Unc80 |
A |
G |
1: 66,647,601 (GRCm39) |
S1514G |
probably benign |
Het |
| Usp7 |
G |
T |
16: 8,511,778 (GRCm39) |
Q867K |
possibly damaging |
Het |
| Vim |
T |
C |
2: 13,579,463 (GRCm39) |
V74A |
probably benign |
Het |
| Vmn1r234 |
A |
G |
17: 21,450,007 (GRCm39) |
Y307C |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,610,517 (GRCm39) |
Y58* |
probably null |
Het |
| Wdr36 |
C |
A |
18: 32,983,584 (GRCm39) |
A445E |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,532,359 (GRCm39) |
W465R |
probably damaging |
Het |
| Zscan4d |
T |
A |
7: 10,898,946 (GRCm39) |
R110S |
probably damaging |
Het |
|
| Other mutations in Pi4ka |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Pi4ka
|
APN |
16 |
17,126,008 (GRCm39) |
missense |
probably benign |
|
|
IGL00984:Pi4ka
|
APN |
16 |
17,176,796 (GRCm39) |
nonsense |
probably null |
|
|
IGL01066:Pi4ka
|
APN |
16 |
17,166,637 (GRCm39) |
splice site |
probably benign |
|
|
IGL01460:Pi4ka
|
APN |
16 |
17,175,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01505:Pi4ka
|
APN |
16 |
17,127,222 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01518:Pi4ka
|
APN |
16 |
17,098,599 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01533:Pi4ka
|
APN |
16 |
17,126,065 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01565:Pi4ka
|
APN |
16 |
17,207,306 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01679:Pi4ka
|
APN |
16 |
17,114,752 (GRCm39) |
splice site |
probably benign |
|
|
IGL01685:Pi4ka
|
APN |
16 |
17,143,066 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01734:Pi4ka
|
APN |
16 |
17,115,124 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01799:Pi4ka
|
APN |
16 |
17,207,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01969:Pi4ka
|
APN |
16 |
17,196,347 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02092:Pi4ka
|
APN |
16 |
17,136,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02113:Pi4ka
|
APN |
16 |
17,191,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02177:Pi4ka
|
APN |
16 |
17,136,146 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02400:Pi4ka
|
APN |
16 |
17,111,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02426:Pi4ka
|
APN |
16 |
17,196,296 (GRCm39) |
splice site |
probably benign |
|
|
IGL02474:Pi4ka
|
APN |
16 |
17,143,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02587:Pi4ka
|
APN |
16 |
17,135,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02667:Pi4ka
|
APN |
16 |
17,113,325 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02698:Pi4ka
|
APN |
16 |
17,109,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02815:Pi4ka
|
APN |
16 |
17,176,753 (GRCm39) |
splice site |
probably benign |
|
|
IGL02828:Pi4ka
|
APN |
16 |
17,098,575 (GRCm39) |
intron |
probably benign |
|
|
IGL02939:Pi4ka
|
APN |
16 |
17,172,074 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03123:Pi4ka
|
APN |
16 |
17,100,539 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03148:Pi4ka
|
APN |
16 |
17,172,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
arachnoid
|
UTSW |
16 |
17,103,145 (GRCm39) |
unclassified |
probably benign |
|
|
dove_bar
|
UTSW |
16 |
17,143,916 (GRCm39) |
splice site |
probably null |
|
|
mia
|
UTSW |
16 |
17,194,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Pia
|
UTSW |
16 |
17,098,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1patch:Pi4ka
|
UTSW |
16 |
17,194,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03098:Pi4ka
|
UTSW |
16 |
17,143,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0024:Pi4ka
|
UTSW |
16 |
17,133,399 (GRCm39) |
splice site |
probably benign |
|
|
R0054:Pi4ka
|
UTSW |
16 |
17,142,978 (GRCm39) |
missense |
probably null |
1.00 |
|
R0054:Pi4ka
|
UTSW |
16 |
17,142,978 (GRCm39) |
missense |
probably null |
1.00 |
|
R0243:Pi4ka
|
UTSW |
16 |
17,115,499 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0374:Pi4ka
|
UTSW |
16 |
17,100,796 (GRCm39) |
unclassified |
probably benign |
|
|
R0478:Pi4ka
|
UTSW |
16 |
17,127,175 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0548:Pi4ka
|
UTSW |
16 |
17,125,582 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0918:Pi4ka
|
UTSW |
16 |
17,103,124 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1082:Pi4ka
|
UTSW |
16 |
17,207,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1384:Pi4ka
|
UTSW |
16 |
17,115,401 (GRCm39) |
splice site |
probably benign |
|
|
R1455:Pi4ka
|
UTSW |
16 |
17,181,818 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1479:Pi4ka
|
UTSW |
16 |
17,191,264 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1490:Pi4ka
|
UTSW |
16 |
17,204,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1565:Pi4ka
|
UTSW |
16 |
17,099,764 (GRCm39) |
missense |
probably null |
|
|
R1594:Pi4ka
|
UTSW |
16 |
17,191,283 (GRCm39) |
splice site |
probably benign |
|
|
R1641:Pi4ka
|
UTSW |
16 |
17,194,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1694:Pi4ka
|
UTSW |
16 |
17,113,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1828:Pi4ka
|
UTSW |
16 |
17,098,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1864:Pi4ka
|
UTSW |
16 |
17,185,389 (GRCm39) |
nonsense |
probably null |
|
|
R2036:Pi4ka
|
UTSW |
16 |
17,120,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Pi4ka
|
UTSW |
16 |
17,185,371 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2844:Pi4ka
|
UTSW |
16 |
17,168,657 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2876:Pi4ka
|
UTSW |
16 |
17,185,414 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3953:Pi4ka
|
UTSW |
16 |
17,103,145 (GRCm39) |
unclassified |
probably benign |
|
|
R3972:Pi4ka
|
UTSW |
16 |
17,111,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4357:Pi4ka
|
UTSW |
16 |
17,185,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4385:Pi4ka
|
UTSW |
16 |
17,204,129 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4427:Pi4ka
|
UTSW |
16 |
17,098,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4436:Pi4ka
|
UTSW |
16 |
17,100,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Pi4ka
|
UTSW |
16 |
17,100,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4683:Pi4ka
|
UTSW |
16 |
17,114,901 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4736:Pi4ka
|
UTSW |
16 |
17,195,039 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4804:Pi4ka
|
UTSW |
16 |
17,126,025 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4886:Pi4ka
|
UTSW |
16 |
17,176,225 (GRCm39) |
missense |
|
|
|
R4893:Pi4ka
|
UTSW |
16 |
17,194,900 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4896:Pi4ka
|
UTSW |
16 |
17,195,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Pi4ka
|
UTSW |
16 |
17,195,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Pi4ka
|
UTSW |
16 |
17,120,946 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5062:Pi4ka
|
UTSW |
16 |
17,127,261 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5104:Pi4ka
|
UTSW |
16 |
17,098,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Pi4ka
|
UTSW |
16 |
17,140,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5173:Pi4ka
|
UTSW |
16 |
17,168,770 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5204:Pi4ka
|
UTSW |
16 |
17,176,909 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5307:Pi4ka
|
UTSW |
16 |
17,140,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5327:Pi4ka
|
UTSW |
16 |
17,143,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5506:Pi4ka
|
UTSW |
16 |
17,111,817 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5580:Pi4ka
|
UTSW |
16 |
17,098,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5768:Pi4ka
|
UTSW |
16 |
17,172,736 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5857:Pi4ka
|
UTSW |
16 |
17,176,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5951:Pi4ka
|
UTSW |
16 |
17,121,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5953:Pi4ka
|
UTSW |
16 |
17,099,815 (GRCm39) |
missense |
|
|
|
R6041:Pi4ka
|
UTSW |
16 |
17,178,436 (GRCm39) |
missense |
probably benign |
|
|
R6223:Pi4ka
|
UTSW |
16 |
17,175,435 (GRCm39) |
nonsense |
probably null |
|
|
R6416:Pi4ka
|
UTSW |
16 |
17,176,186 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6535:Pi4ka
|
UTSW |
16 |
17,118,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6580:Pi4ka
|
UTSW |
16 |
17,168,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6720:Pi4ka
|
UTSW |
16 |
17,143,916 (GRCm39) |
splice site |
probably null |
|
|
R6723:Pi4ka
|
UTSW |
16 |
17,194,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6725:Pi4ka
|
UTSW |
16 |
17,194,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6752:Pi4ka
|
UTSW |
16 |
17,194,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6753:Pi4ka
|
UTSW |
16 |
17,194,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6755:Pi4ka
|
UTSW |
16 |
17,194,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6767:Pi4ka
|
UTSW |
16 |
17,194,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6768:Pi4ka
|
UTSW |
16 |
17,194,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6782:Pi4ka
|
UTSW |
16 |
17,194,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6782:Pi4ka
|
UTSW |
16 |
17,143,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Pi4ka
|
UTSW |
16 |
17,194,846 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6849:Pi4ka
|
UTSW |
16 |
17,121,285 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6958:Pi4ka
|
UTSW |
16 |
17,143,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Pi4ka
|
UTSW |
16 |
17,114,931 (GRCm39) |
unclassified |
probably benign |
|
|
R7055:Pi4ka
|
UTSW |
16 |
17,134,879 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7317:Pi4ka
|
UTSW |
16 |
17,223,496 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7533:Pi4ka
|
UTSW |
16 |
17,115,525 (GRCm39) |
missense |
|
|
|
R7552:Pi4ka
|
UTSW |
16 |
17,109,080 (GRCm39) |
missense |
|
|
|
R7581:Pi4ka
|
UTSW |
16 |
17,118,924 (GRCm39) |
missense |
|
|
|
R7622:Pi4ka
|
UTSW |
16 |
17,111,841 (GRCm39) |
missense |
|
|
|
R7717:Pi4ka
|
UTSW |
16 |
17,194,787 (GRCm39) |
missense |
|
|
|
R8048:Pi4ka
|
UTSW |
16 |
17,120,991 (GRCm39) |
missense |
|
|
|
R8052:Pi4ka
|
UTSW |
16 |
17,174,030 (GRCm39) |
missense |
|
|
|
R8079:Pi4ka
|
UTSW |
16 |
17,120,924 (GRCm39) |
missense |
|
|
|
R8123:Pi4ka
|
UTSW |
16 |
17,098,956 (GRCm39) |
missense |
|
|
|
R8211:Pi4ka
|
UTSW |
16 |
17,100,769 (GRCm39) |
missense |
|
|
|
R8310:Pi4ka
|
UTSW |
16 |
17,171,912 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8322:Pi4ka
|
UTSW |
16 |
17,175,437 (GRCm39) |
missense |
|
|
|
R8509:Pi4ka
|
UTSW |
16 |
17,172,008 (GRCm39) |
missense |
|
|
|
R8735:Pi4ka
|
UTSW |
16 |
17,136,234 (GRCm39) |
missense |
|
|
|
R8912:Pi4ka
|
UTSW |
16 |
17,207,230 (GRCm39) |
missense |
|
|
|
R8917:Pi4ka
|
UTSW |
16 |
17,130,310 (GRCm39) |
missense |
|
|
|
R8921:Pi4ka
|
UTSW |
16 |
17,125,604 (GRCm39) |
missense |
|
|
|
R8941:Pi4ka
|
UTSW |
16 |
17,114,807 (GRCm39) |
unclassified |
probably benign |
|
|
R9002:Pi4ka
|
UTSW |
16 |
17,117,317 (GRCm39) |
missense |
|
|
|
R9203:Pi4ka
|
UTSW |
16 |
17,100,165 (GRCm39) |
missense |
|
|
|
R9222:Pi4ka
|
UTSW |
16 |
17,176,225 (GRCm39) |
missense |
|
|
|
R9230:Pi4ka
|
UTSW |
16 |
17,099,788 (GRCm39) |
missense |
|
|
|
R9262:Pi4ka
|
UTSW |
16 |
17,120,859 (GRCm39) |
missense |
|
|
|
R9338:Pi4ka
|
UTSW |
16 |
17,135,227 (GRCm39) |
missense |
|
|
|
R9374:Pi4ka
|
UTSW |
16 |
17,125,574 (GRCm39) |
missense |
|
|
|
R9436:Pi4ka
|
UTSW |
16 |
17,125,670 (GRCm39) |
missense |
|
|
|
R9499:Pi4ka
|
UTSW |
16 |
17,125,574 (GRCm39) |
missense |
|
|
|
R9501:Pi4ka
|
UTSW |
16 |
17,204,156 (GRCm39) |
missense |
|
|
|
R9551:Pi4ka
|
UTSW |
16 |
17,125,574 (GRCm39) |
missense |
|
|
|
R9705:Pi4ka
|
UTSW |
16 |
17,099,815 (GRCm39) |
missense |
|
|
|
RF007:Pi4ka
|
UTSW |
16 |
17,115,097 (GRCm39) |
missense |
|
|
|
U24488:Pi4ka
|
UTSW |
16 |
17,143,040 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCCACCATAGCCCAAATTCATC -3'
(R):5'- GGCCATAACTGAAAGGACTCCTGC -3'
Sequencing Primer
(F):5'- cagacacaccagaagaggac -3'
(R):5'- GGACTCCTGCAACCCTATC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation