Incidental Mutation 'R0243:Pi4ka'
| ID |
37913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4ka
|
| Ensembl Gene |
ENSMUSG00000041720 |
| Gene Name |
phosphatidylinositol 4-kinase alpha |
| Synonyms |
Pik4ca |
| MMRRC Submission |
038481-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17098215-17224178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17115499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 1384
(V1384M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156049
(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: V1384M
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: V1384M
| 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: V1384M
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: V1384M
| 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: V1384M
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.0%
|
| Validation Efficiency |
98% (148/151) |
| 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: 139 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
G |
5: 64,055,806 (GRCm39) |
Y181D |
probably benign |
Het |
| 1700029H14Rik |
A |
G |
8: 13,604,715 (GRCm39) |
V196A |
possibly damaging |
Het |
| 2410004B18Rik |
A |
G |
3: 145,643,833 (GRCm39) |
D7G |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,776,252 (GRCm39) |
V249A |
probably damaging |
Het |
| Acat2 |
A |
T |
17: 13,162,908 (GRCm39) |
D313E |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,604,823 (GRCm39) |
T325A |
probably benign |
Het |
| Adamdec1 |
C |
T |
14: 68,819,407 (GRCm39) |
|
probably null |
Het |
| Adat2 |
A |
G |
10: 13,429,037 (GRCm39) |
T10A |
probably benign |
Het |
| Aff4 |
T |
A |
11: 53,288,685 (GRCm39) |
S400R |
possibly damaging |
Het |
| Agbl2 |
C |
T |
2: 90,621,825 (GRCm39) |
P104L |
possibly damaging |
Het |
| Alox12 |
G |
T |
11: 70,133,542 (GRCm39) |
T594K |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,254,546 (GRCm39) |
K270N |
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,767,787 (GRCm39) |
C1235S |
probably damaging |
Het |
| Ankrd24 |
T |
A |
10: 81,470,778 (GRCm39) |
I69N |
probably damaging |
Het |
| Aox4 |
G |
A |
1: 58,252,235 (GRCm39) |
V37I |
probably benign |
Het |
| Arfgap3 |
A |
G |
15: 83,214,714 (GRCm39) |
|
probably benign |
Het |
| Arhgef4 |
T |
A |
1: 34,846,080 (GRCm39) |
|
probably null |
Het |
| Asic1 |
C |
T |
15: 99,596,498 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,366,057 (GRCm39) |
N776S |
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,659,883 (GRCm39) |
I184T |
probably benign |
Het |
| Bbs9 |
A |
T |
9: 22,425,297 (GRCm39) |
H117L |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,902,787 (GRCm39) |
W10R |
probably damaging |
Het |
| Brd4 |
G |
T |
17: 32,443,097 (GRCm39) |
Q175K |
probably benign |
Het |
| Bysl |
A |
T |
17: 47,917,821 (GRCm39) |
V124E |
possibly damaging |
Het |
| Cadm3 |
A |
G |
1: 173,174,140 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,853,980 (GRCm39) |
|
probably benign |
Het |
| Ccdc134 |
G |
T |
15: 82,025,147 (GRCm39) |
E215D |
probably damaging |
Het |
| Celsr3 |
G |
T |
9: 108,720,923 (GRCm39) |
|
probably benign |
Het |
| Cntn5 |
T |
A |
9: 9,781,780 (GRCm39) |
D428V |
probably damaging |
Het |
| Cog1 |
A |
G |
11: 113,547,821 (GRCm39) |
|
probably benign |
Het |
| Col11a2 |
G |
T |
17: 34,281,520 (GRCm39) |
|
probably benign |
Het |
| Cyp4f13 |
G |
A |
17: 33,143,943 (GRCm39) |
|
probably benign |
Het |
| Dffb |
T |
A |
4: 154,049,835 (GRCm39) |
K343* |
probably null |
Het |
| Dnah9 |
T |
A |
11: 65,802,678 (GRCm39) |
I224F |
possibly damaging |
Het |
| Dolk |
A |
T |
2: 30,176,031 (GRCm39) |
C5S |
probably benign |
Het |
| Dynlt2b |
A |
G |
16: 32,245,705 (GRCm39) |
D118G |
probably damaging |
Het |
| Ebf1 |
A |
T |
11: 44,759,915 (GRCm39) |
|
probably benign |
Het |
| Elac1 |
A |
G |
18: 73,875,434 (GRCm39) |
L199P |
probably damaging |
Het |
| Elmod1 |
A |
C |
9: 53,842,831 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
A |
C |
5: 110,872,273 (GRCm39) |
|
probably benign |
Het |
| F10 |
A |
T |
8: 13,098,196 (GRCm39) |
N133I |
probably damaging |
Het |
| Fasn |
A |
G |
11: 120,706,141 (GRCm39) |
Y1068H |
probably benign |
Het |
| Fbxo24 |
T |
C |
5: 137,622,819 (GRCm39) |
E12G |
probably damaging |
Het |
| Fer |
G |
T |
17: 64,385,941 (GRCm39) |
L304F |
probably benign |
Het |
| Filip1 |
A |
C |
9: 79,726,285 (GRCm39) |
L778R |
probably damaging |
Het |
| Fli1 |
A |
T |
9: 32,335,277 (GRCm39) |
I385N |
probably benign |
Het |
| Fpgs |
A |
T |
2: 32,582,506 (GRCm39) |
L89* |
probably null |
Het |
| Gab2 |
T |
G |
7: 96,948,448 (GRCm39) |
I346R |
probably damaging |
Het |
| Gm10764 |
G |
A |
10: 87,126,841 (GRCm39) |
G83R |
unknown |
Het |
| Gpr83 |
G |
T |
9: 14,776,138 (GRCm39) |
C153F |
possibly damaging |
Het |
| Gtf3c3 |
A |
G |
1: 54,442,695 (GRCm39) |
L783P |
possibly damaging |
Het |
| Gys2 |
A |
G |
6: 142,418,394 (GRCm39) |
|
probably benign |
Het |
| Heatr9 |
C |
T |
11: 83,404,164 (GRCm39) |
V378I |
possibly damaging |
Het |
| Helz |
A |
T |
11: 107,528,740 (GRCm39) |
Y920F |
possibly damaging |
Het |
| Inpp5f |
A |
T |
7: 128,296,907 (GRCm39) |
Q459L |
probably damaging |
Het |
| Ints12 |
T |
C |
3: 132,814,806 (GRCm39) |
S338P |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,944,827 (GRCm39) |
T925A |
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,969,815 (GRCm39) |
V1051I |
probably damaging |
Het |
| Kif7 |
T |
A |
7: 79,349,308 (GRCm39) |
H1119L |
possibly damaging |
Het |
| Kmt2d |
C |
T |
15: 98,748,018 (GRCm39) |
|
probably benign |
Het |
| Krt90 |
C |
T |
15: 101,471,110 (GRCm39) |
G51S |
possibly damaging |
Het |
| Krtap31-2 |
A |
T |
11: 99,827,572 (GRCm39) |
I135F |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,258,974 (GRCm39) |
E4572G |
probably benign |
Het |
| Mapk8ip1 |
T |
C |
2: 92,216,289 (GRCm39) |
E493G |
probably damaging |
Het |
| Matk |
T |
G |
10: 81,094,326 (GRCm39) |
L28V |
probably benign |
Het |
| Mcc |
T |
A |
18: 44,892,366 (GRCm39) |
T83S |
probably benign |
Het |
| Mtch1 |
A |
T |
17: 29,559,080 (GRCm39) |
M204K |
possibly damaging |
Het |
| Muc4 |
T |
G |
16: 32,586,120 (GRCm39) |
C2622G |
possibly damaging |
Het |
| Myo5a |
G |
A |
9: 75,093,405 (GRCm39) |
|
probably null |
Het |
| Myoz3 |
T |
C |
18: 60,712,023 (GRCm39) |
Y185C |
probably damaging |
Het |
| Nnmt |
A |
G |
9: 48,503,438 (GRCm39) |
V196A |
probably benign |
Het |
| Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
| Nup214 |
T |
A |
2: 31,888,069 (GRCm39) |
|
probably benign |
Het |
| Or2aj4 |
T |
G |
16: 19,385,044 (GRCm39) |
E196D |
probably damaging |
Het |
| Or2y13 |
T |
C |
11: 49,414,739 (GRCm39) |
L63P |
probably damaging |
Het |
| Or4c126 |
T |
A |
2: 89,824,150 (GRCm39) |
F138I |
probably benign |
Het |
| Pank3 |
T |
C |
11: 35,672,543 (GRCm39) |
|
probably benign |
Het |
| Parm1 |
A |
T |
5: 91,742,153 (GRCm39) |
N174Y |
possibly damaging |
Het |
| Pcgf2 |
A |
T |
11: 97,583,244 (GRCm39) |
|
probably null |
Het |
| Pclo |
A |
T |
5: 14,825,434 (GRCm39) |
K4661M |
unknown |
Het |
| Pcsk7 |
A |
C |
9: 45,827,357 (GRCm39) |
S375R |
probably damaging |
Het |
| Pdzrn4 |
G |
T |
15: 92,668,200 (GRCm39) |
S784I |
possibly damaging |
Het |
| Pex6 |
T |
A |
17: 47,034,663 (GRCm39) |
|
probably null |
Het |
| Polr3f |
T |
A |
2: 144,378,195 (GRCm39) |
|
probably benign |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,483 (GRCm39) |
V280E |
probably damaging |
Het |
| Prdm14 |
C |
T |
1: 13,192,672 (GRCm39) |
G356R |
probably damaging |
Het |
| Prepl |
A |
G |
17: 85,372,466 (GRCm39) |
|
probably null |
Het |
| Primpol |
T |
C |
8: 47,052,849 (GRCm39) |
D154G |
probably damaging |
Het |
| Ptchd4 |
A |
C |
17: 42,814,307 (GRCm39) |
H736P |
probably damaging |
Het |
| Rab11fip1 |
A |
G |
8: 27,642,253 (GRCm39) |
S849P |
probably damaging |
Het |
| Rap1gap |
T |
A |
4: 137,446,662 (GRCm39) |
D405E |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,369,374 (GRCm39) |
T686A |
probably benign |
Het |
| Resf1 |
T |
C |
6: 149,227,739 (GRCm39) |
Y262H |
probably damaging |
Het |
| Rint1 |
A |
G |
5: 24,021,930 (GRCm39) |
|
probably benign |
Het |
| Rnasek |
G |
T |
11: 70,129,266 (GRCm39) |
Y62* |
probably null |
Het |
| Rnf17 |
T |
G |
14: 56,719,541 (GRCm39) |
N930K |
possibly damaging |
Het |
| Sap130 |
A |
G |
18: 31,813,734 (GRCm39) |
|
probably benign |
Het |
| Sectm1b |
T |
A |
11: 120,946,611 (GRCm39) |
I95F |
probably damaging |
Het |
| Sema4f |
A |
T |
6: 82,916,447 (GRCm39) |
I53N |
possibly damaging |
Het |
| Shld1 |
T |
C |
2: 132,592,559 (GRCm39) |
V202A |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,927,396 (GRCm39) |
T137A |
probably damaging |
Het |
| Six5 |
A |
C |
7: 18,830,947 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
A |
T |
19: 8,322,721 (GRCm39) |
I345N |
probably benign |
Het |
| Slc25a27 |
A |
T |
17: 43,954,518 (GRCm39) |
M316K |
probably benign |
Het |
| Slc2a8 |
A |
T |
2: 32,870,116 (GRCm39) |
|
probably benign |
Het |
| Snx1 |
G |
A |
9: 66,008,608 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,992,684 (GRCm39) |
T1727A |
probably benign |
Het |
| Spata20 |
T |
C |
11: 94,372,472 (GRCm39) |
D633G |
probably benign |
Het |
| Spock1 |
C |
T |
13: 57,583,922 (GRCm39) |
|
probably null |
Het |
| Sra1 |
A |
T |
18: 36,808,759 (GRCm39) |
Y291* |
probably null |
Het |
| Sspo |
C |
A |
6: 48,470,120 (GRCm39) |
P4520T |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,051,016 (GRCm39) |
N25S |
probably benign |
Het |
| Tbx18 |
A |
T |
9: 87,597,569 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
A |
14: 51,084,444 (GRCm39) |
I187F |
probably damaging |
Het |
| Tfap2b |
A |
T |
1: 19,304,347 (GRCm39) |
I368F |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,148,335 (GRCm39) |
L711Q |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,556,613 (GRCm39) |
|
probably benign |
Het |
| Tnc |
G |
T |
4: 63,888,657 (GRCm39) |
T1803K |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tpgs1 |
C |
T |
10: 79,511,700 (GRCm39) |
P281S |
probably benign |
Het |
| Trim45 |
A |
G |
3: 100,837,160 (GRCm39) |
R499G |
probably benign |
Het |
| Tulp3 |
A |
T |
6: 128,302,921 (GRCm39) |
Y299* |
probably null |
Het |
| Ube4a |
A |
T |
9: 44,857,476 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
G |
2: 69,781,749 (GRCm39) |
S642R |
probably damaging |
Het |
| Vcpip1 |
A |
T |
1: 9,817,431 (GRCm39) |
Y317* |
probably null |
Het |
| Vmn1r115 |
G |
A |
7: 20,578,327 (GRCm39) |
T195I |
probably benign |
Het |
| Vmn1r226 |
G |
A |
17: 20,907,839 (GRCm39) |
V24I |
probably benign |
Het |
| Wdr41 |
C |
T |
13: 95,153,914 (GRCm39) |
A321V |
probably damaging |
Het |
| Wfdc5 |
T |
C |
2: 164,020,755 (GRCm39) |
N44D |
probably benign |
Het |
| Wnt7b |
C |
A |
15: 85,443,103 (GRCm39) |
|
probably null |
Het |
| Zfp108 |
T |
C |
7: 23,961,208 (GRCm39) |
S600P |
possibly damaging |
Het |
| Zfp267 |
A |
G |
3: 36,219,303 (GRCm39) |
H442R |
possibly damaging |
Het |
| Zfp385b |
A |
G |
2: 77,246,072 (GRCm39) |
|
probably null |
Het |
| Zfp395 |
T |
C |
14: 65,623,929 (GRCm39) |
S133P |
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,576,836 (GRCm39) |
M1426L |
probably damaging |
Het |
| Zfp641 |
T |
G |
15: 98,187,008 (GRCm39) |
N191T |
possibly damaging |
Het |
| Zfp687 |
T |
C |
3: 94,918,864 (GRCm39) |
S303G |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,286,877 (GRCm39) |
F143I |
possibly damaging |
Het |
| Zgrf1 |
G |
C |
3: 127,409,095 (GRCm39) |
E1690Q |
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 |
|
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 |
|
R0626:Pi4ka
|
UTSW |
16 |
17,111,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ATCACTCCACCGGGAAGGGAAC -3'
(R):5'- TGCTGTGCAAAGAAAGACCCAGTC -3'
Sequencing Primer
(F):5'- AGATGGTTGACATGCCACTG -3'
(R):5'- tgttgttgttgttcttgttgttg -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation