Incidental Mutation 'R1864:Pi4ka'
| ID |
208553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4ka
|
| Ensembl Gene |
ENSMUSG00000041720 |
| Gene Name |
phosphatidylinositol 4-kinase alpha |
| Synonyms |
Pik4ca |
| MMRRC Submission |
039887-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1864 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17098215-17224178 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 17185389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 237
(L237*)
|
| 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 null
Transcript: ENSMUST00000036161
AA Change: L237*
|
| SMART Domains |
Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: L237*
| 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 |
noncoding transcript
Transcript: ENSMUST00000128938
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154364
AA Change: L237*
|
| SMART Domains |
Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: L237*
| 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 |
noncoding transcript
Transcript: ENSMUST00000231419
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232232
AA Change: L237*
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.1%
|
| 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: 112 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
G |
A |
X: 159,265,347 (GRCm39) |
M532I |
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,598,016 (GRCm39) |
Y1198H |
possibly damaging |
Het |
| Ahcyl2 |
G |
A |
6: 29,908,354 (GRCm39) |
V575M |
probably damaging |
Het |
| Akp3 |
TCACCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCACCAC |
1: 87,055,489 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,508,610 (GRCm39) |
N329K |
probably benign |
Het |
| Ano4 |
C |
A |
10: 88,807,253 (GRCm39) |
G741V |
probably damaging |
Het |
| Anxa1 |
T |
C |
19: 20,357,053 (GRCm39) |
D191G |
probably benign |
Het |
| Apc2 |
C |
T |
10: 80,149,482 (GRCm39) |
T1512I |
probably damaging |
Het |
| Aph1b |
A |
T |
9: 66,701,395 (GRCm39) |
C81S |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,866,015 (GRCm39) |
E893G |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,130,640 (GRCm39) |
H399Q |
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,919,294 (GRCm39) |
E304G |
probably benign |
Het |
| B4galnt4 |
A |
G |
7: 140,650,446 (GRCm39) |
Y771C |
probably damaging |
Het |
| Birc2 |
G |
T |
9: 7,819,518 (GRCm39) |
Q465K |
probably benign |
Het |
| Btla |
C |
T |
16: 45,070,737 (GRCm39) |
T232I |
probably damaging |
Het |
| Ccl7 |
G |
T |
11: 81,937,378 (GRCm39) |
K37N |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,061,967 (GRCm39) |
V233A |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,329,018 (GRCm39) |
C66R |
probably damaging |
Het |
| Cilp2 |
C |
A |
8: 70,333,973 (GRCm39) |
Q1008H |
probably damaging |
Het |
| Clcn1 |
T |
A |
6: 42,282,475 (GRCm39) |
D442E |
probably damaging |
Het |
| Clcnka |
T |
C |
4: 141,120,113 (GRCm39) |
T269A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,534,385 (GRCm39) |
|
probably null |
Het |
| Cts6 |
A |
G |
13: 61,349,393 (GRCm39) |
I105T |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,931,739 (GRCm39) |
D123G |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,045,105 (GRCm39) |
L808Q |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,496,215 (GRCm39) |
I270N |
probably damaging |
Het |
| Dhx15 |
T |
C |
5: 52,342,043 (GRCm39) |
T92A |
possibly damaging |
Het |
| Dhx32 |
A |
T |
7: 133,339,025 (GRCm39) |
C197S |
probably benign |
Het |
| Diaph2 |
G |
A |
X: 128,860,876 (GRCm39) |
R473Q |
probably damaging |
Het |
| Dnd1 |
A |
G |
18: 36,899,057 (GRCm39) |
C11R |
possibly damaging |
Het |
| Dock1 |
A |
C |
7: 134,748,236 (GRCm39) |
D1566A |
probably benign |
Het |
| Drp2 |
A |
G |
X: 133,327,864 (GRCm39) |
I43V |
probably benign |
Het |
| Ecm2 |
T |
C |
13: 49,683,621 (GRCm39) |
V533A |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,849,942 (GRCm39) |
H427L |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,934 (GRCm39) |
E725G |
probably damaging |
Het |
| Eml2 |
A |
G |
7: 18,935,803 (GRCm39) |
Y487C |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,018,246 (GRCm39) |
L919H |
probably damaging |
Het |
| Fam187a |
T |
A |
11: 102,776,837 (GRCm39) |
S214T |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,283,869 (GRCm39) |
T521A |
probably benign |
Het |
| Foxi1 |
T |
A |
11: 34,157,531 (GRCm39) |
I165F |
probably damaging |
Het |
| Fxr2 |
A |
T |
11: 69,543,103 (GRCm39) |
K633N |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,098,206 (GRCm39) |
I209T |
probably benign |
Het |
| Gmpr |
G |
T |
13: 45,696,101 (GRCm39) |
V278F |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,057,384 (GRCm39) |
D328V |
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,660,056 (GRCm39) |
S534P |
probably damaging |
Het |
| Heph |
A |
G |
X: 95,573,092 (GRCm39) |
T792A |
probably damaging |
Het |
| Hipk2 |
T |
A |
6: 38,695,870 (GRCm39) |
|
probably null |
Het |
| Hps3 |
T |
A |
3: 20,074,123 (GRCm39) |
|
probably null |
Het |
| Hspa5 |
T |
C |
2: 34,664,553 (GRCm39) |
F336L |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,441,413 (GRCm39) |
I409T |
probably benign |
Het |
| Kcnj8 |
T |
A |
6: 142,515,966 (GRCm39) |
H47L |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,853,230 (GRCm39) |
Q108L |
probably damaging |
Het |
| Klc3 |
A |
G |
7: 19,131,966 (GRCm39) |
V137A |
probably damaging |
Het |
| Lcn2 |
T |
C |
2: 32,275,434 (GRCm39) |
T194A |
possibly damaging |
Het |
| Lgr4 |
T |
A |
2: 109,841,742 (GRCm39) |
F576I |
possibly damaging |
Het |
| Lypd6b |
A |
G |
2: 49,837,459 (GRCm39) |
I144V |
possibly damaging |
Het |
| Mctp1 |
G |
A |
13: 76,533,267 (GRCm39) |
C205Y |
possibly damaging |
Het |
| Mitf |
A |
T |
6: 97,987,383 (GRCm39) |
N159I |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,412,893 (GRCm39) |
I678T |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,576,625 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,701,463 (GRCm39) |
Y2115C |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,975,153 (GRCm39) |
I182V |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,272,245 (GRCm39) |
V635A |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,102,772 (GRCm39) |
Y4257* |
probably null |
Het |
| Npr2 |
T |
A |
4: 43,641,258 (GRCm39) |
V428E |
probably benign |
Het |
| Nufip2 |
A |
G |
11: 77,583,124 (GRCm39) |
D346G |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,469,753 (GRCm39) |
S1088F |
probably benign |
Het |
| Or10s1 |
T |
G |
9: 39,986,081 (GRCm39) |
I163M |
possibly damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,313,030 (GRCm39) |
N286S |
possibly damaging |
Het |
| Or4c127 |
T |
A |
2: 89,832,825 (GRCm39) |
V25E |
probably benign |
Het |
| Or4k38 |
C |
T |
2: 111,166,052 (GRCm39) |
V124M |
possibly damaging |
Het |
| Or5ac22 |
A |
G |
16: 59,135,378 (GRCm39) |
Y131H |
probably damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,560 (GRCm39) |
Y149N |
probably damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,204,789 (GRCm39) |
V550I |
probably benign |
Het |
| Pla2r1 |
G |
A |
2: 60,259,055 (GRCm39) |
T1111M |
probably benign |
Het |
| Plxnd1 |
A |
T |
6: 115,946,402 (GRCm39) |
|
probably null |
Het |
| Pnp |
G |
C |
14: 51,185,430 (GRCm39) |
A67P |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,404 (GRCm39) |
S837T |
probably damaging |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,381,707 (GRCm39) |
D203G |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,478,836 (GRCm39) |
V486A |
possibly damaging |
Het |
| Rnf115 |
A |
G |
3: 96,635,153 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
C |
A |
4: 43,421,719 (GRCm39) |
A713D |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,560,673 (GRCm39) |
H3009Q |
possibly damaging |
Het |
| Serpina1d |
C |
A |
12: 103,734,256 (GRCm39) |
C16F |
probably benign |
Het |
| Serpinf2 |
G |
T |
11: 75,328,309 (GRCm39) |
R80S |
possibly damaging |
Het |
| Sh2d4a |
C |
A |
8: 68,781,967 (GRCm39) |
Q192K |
probably benign |
Het |
| Sh3d21 |
T |
A |
4: 126,044,729 (GRCm39) |
|
probably null |
Het |
| Sh3rf2 |
T |
A |
18: 42,187,046 (GRCm39) |
L55Q |
probably damaging |
Het |
| Shc4 |
T |
C |
2: 125,481,287 (GRCm39) |
D255G |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,483,106 (GRCm39) |
H170Q |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,703,509 (GRCm39) |
Y261C |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,964,071 (GRCm39) |
N102K |
possibly damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,533,152 (GRCm39) |
I307K |
probably damaging |
Het |
| Sv2b |
A |
T |
7: 74,773,828 (GRCm39) |
S548T |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,780,694 (GRCm39) |
S524P |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,905,699 (GRCm39) |
D152G |
probably damaging |
Het |
| Tmem213 |
A |
G |
6: 38,086,487 (GRCm39) |
T48A |
possibly damaging |
Het |
| Tmem37 |
A |
G |
1: 119,995,952 (GRCm39) |
S42P |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,917,764 (GRCm39) |
K1258R |
probably damaging |
Het |
| Ttc22 |
T |
C |
4: 106,494,003 (GRCm39) |
V321A |
probably benign |
Het |
| Ube2c |
C |
A |
2: 164,611,943 (GRCm39) |
A15E |
probably benign |
Het |
| Ubn2 |
T |
A |
6: 38,417,425 (GRCm39) |
D154E |
possibly damaging |
Het |
| Umod |
A |
T |
7: 119,062,478 (GRCm39) |
L631M |
probably damaging |
Het |
| Ush1c |
G |
A |
7: 45,868,816 (GRCm39) |
Q373* |
probably null |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,040 (GRCm39) |
R125* |
probably null |
Het |
| Wnt8b |
T |
C |
19: 44,482,029 (GRCm39) |
L14P |
probably benign |
Het |
| Wrn |
G |
A |
8: 33,778,892 (GRCm39) |
A563V |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,348,998 (GRCm39) |
Q145L |
possibly damaging |
Het |
| Zfp608 |
A |
G |
18: 55,030,983 (GRCm39) |
S986P |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,233,373 (GRCm39) |
H228R |
possibly 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 |
|
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 |
|
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'- CAAAAGGTCTTCCGCTGATTGG -3'
(R):5'- CACAACCAAAGAGTGCTATGG -3'
Sequencing Primer
(F):5'- AAAAGGTCTTCCGCTGATTGGTTTTC -3'
(R):5'- GTAATCTCCCAACGCTTGAATGG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation