Incidental Mutation 'R4677:Pi4ka'
| ID |
349695 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4ka
|
| Ensembl Gene |
ENSMUSG00000041720 |
| Gene Name |
phosphatidylinositol 4-kinase alpha |
| Synonyms |
Pik4ca |
| MMRRC Submission |
042014-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4677 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17098215-17224178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17100237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1888
(Y1888H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036161]
[ENSMUST00000154364]
[ENSMUST00000164950]
[ENSMUST00000232232]
[ENSMUST00000232364]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036161
AA Change: Y1888H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: Y1888H
| 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: ENSMUST00000127121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148110
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154364
AA Change: Y1888H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: Y1888H
| 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: ENSMUST00000160161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231517
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231347
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164950
|
| SMART Domains |
Protein: ENSMUSP00000131127
Gene: ENSMUSG00000055692
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
5 |
112 |
N/A |
INTRINSIC |
|
Pfam:TMEM191C
|
182 |
302 |
1.5e-68 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232232
AA Change: Y1888H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232092
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232636
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232220
|
| Meta Mutation Damage Score |
0.7652 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
100% (85/85) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,793,587 (GRCm39) |
M1T |
probably null |
Het |
| Akap3 |
T |
C |
6: 126,842,226 (GRCm39) |
S282P |
probably damaging |
Het |
| Anxa10 |
A |
G |
8: 62,516,054 (GRCm39) |
I206T |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,779,713 (GRCm39) |
D52G |
probably damaging |
Het |
| Arl6 |
A |
T |
16: 59,439,228 (GRCm39) |
|
probably null |
Het |
| Calcoco1 |
T |
C |
15: 102,626,329 (GRCm39) |
E87G |
probably damaging |
Het |
| Ccdc88b |
C |
A |
19: 6,825,636 (GRCm39) |
A1206S |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,923,197 (GRCm39) |
|
probably benign |
Het |
| Cdon |
A |
G |
9: 35,389,901 (GRCm39) |
N852D |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,336,665 (GRCm39) |
Q41L |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,516,020 (GRCm39) |
T145A |
unknown |
Het |
| Dcdc2b |
T |
C |
4: 129,507,936 (GRCm39) |
T39A |
probably damaging |
Het |
| Ddx55 |
A |
T |
5: 124,705,997 (GRCm39) |
D474V |
probably benign |
Het |
| Dipk2a |
A |
T |
9: 94,402,457 (GRCm39) |
C402S |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 118,010,640 (GRCm39) |
L521P |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,707,010 (GRCm39) |
D497G |
probably null |
Het |
| Fam151a |
A |
G |
4: 106,605,456 (GRCm39) |
E606G |
possibly damaging |
Het |
| Fbxw11 |
T |
A |
11: 32,692,535 (GRCm39) |
L502* |
probably null |
Het |
| Fcrl1 |
A |
G |
3: 87,297,563 (GRCm39) |
S337G |
possibly damaging |
Het |
| G6pc1 |
C |
A |
11: 101,267,439 (GRCm39) |
F296L |
probably benign |
Het |
| Gm17472 |
C |
A |
6: 42,957,809 (GRCm39) |
T26N |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,751,870 (GRCm39) |
V564A |
probably benign |
Het |
| H2-Ob |
T |
C |
17: 34,461,618 (GRCm39) |
I119T |
probably benign |
Het |
| Hhip |
A |
G |
8: 80,771,726 (GRCm39) |
Y195H |
probably damaging |
Het |
| Igkc |
A |
T |
6: 70,703,662 (GRCm39) |
|
probably benign |
Het |
| Islr |
A |
T |
9: 58,064,642 (GRCm39) |
D288E |
probably damaging |
Het |
| Kdelr1 |
A |
G |
7: 45,523,197 (GRCm39) |
S36G |
probably benign |
Het |
| Lama5 |
G |
T |
2: 179,821,159 (GRCm39) |
H3134Q |
possibly damaging |
Het |
| Loricrin |
A |
G |
3: 91,989,050 (GRCm39) |
Y79H |
unknown |
Het |
| Lrp1b |
A |
G |
2: 40,691,496 (GRCm39) |
F3327S |
probably damaging |
Het |
| Lrrc41 |
C |
T |
4: 115,952,332 (GRCm39) |
H637Y |
probably benign |
Het |
| Map2k6 |
C |
T |
11: 110,290,220 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
T |
G |
10: 76,306,404 (GRCm39) |
F172L |
probably damaging |
Het |
| Muc19 |
G |
A |
15: 91,772,411 (GRCm39) |
|
noncoding transcript |
Het |
| Muc21 |
T |
A |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,224,212 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
A |
T |
8: 61,481,840 (GRCm39) |
I252L |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,154,152 (GRCm39) |
H588Q |
possibly damaging |
Het |
| Nt5dc2 |
T |
C |
14: 30,860,878 (GRCm39) |
V351A |
possibly damaging |
Het |
| Or1j12 |
A |
G |
2: 36,343,062 (GRCm39) |
N155S |
probably benign |
Het |
| Or51b17 |
T |
C |
7: 103,542,615 (GRCm39) |
E109G |
probably damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,315 (GRCm39) |
T44A |
possibly damaging |
Het |
| Or8k1 |
A |
T |
2: 86,048,032 (GRCm39) |
S7R |
probably benign |
Het |
| Pde3a |
A |
G |
6: 141,411,865 (GRCm39) |
N480D |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,145,833 (GRCm39) |
K374E |
probably damaging |
Het |
| Pdhx |
G |
A |
2: 102,903,811 (GRCm39) |
|
probably null |
Het |
| Pnpla2 |
T |
A |
7: 141,038,356 (GRCm39) |
M203K |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,532,748 (GRCm39) |
|
probably benign |
Het |
| Ptcd3 |
G |
T |
6: 71,870,498 (GRCm39) |
H321N |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,743,366 (GRCm39) |
|
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,342,100 (GRCm39) |
T192A |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,386,889 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,187,387 (GRCm39) |
P1372S |
possibly damaging |
Het |
| Rps6ka4 |
G |
T |
19: 6,816,854 (GRCm39) |
T107K |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,329,980 (GRCm39) |
T1169A |
possibly damaging |
Het |
| Ryr2 |
C |
A |
13: 11,721,553 (GRCm39) |
W2626L |
probably damaging |
Het |
| Scn4a |
C |
T |
11: 106,214,788 (GRCm39) |
V1270I |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,806 (GRCm39) |
S333P |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,224,019 (GRCm39) |
|
probably benign |
Het |
| Sult1c2 |
C |
T |
17: 54,137,137 (GRCm39) |
V262M |
possibly damaging |
Het |
| Tll1 |
A |
T |
8: 64,504,411 (GRCm39) |
F662I |
probably benign |
Het |
| Tmem161a |
A |
T |
8: 70,633,597 (GRCm39) |
|
probably null |
Het |
| Top1mt |
A |
C |
15: 75,535,907 (GRCm39) |
V465G |
possibly damaging |
Het |
| Trcg1 |
A |
G |
9: 57,153,144 (GRCm39) |
K596E |
possibly damaging |
Het |
| Trim27 |
T |
A |
13: 21,365,086 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
A |
G |
19: 22,964,752 (GRCm39) |
I1406V |
possibly damaging |
Het |
| Tssc4 |
T |
A |
7: 142,624,246 (GRCm39) |
S254T |
probably damaging |
Het |
| Ttc7 |
C |
A |
17: 87,678,163 (GRCm39) |
|
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,257,705 (GRCm39) |
T288A |
probably damaging |
Het |
| Usp48 |
C |
A |
4: 137,343,692 (GRCm39) |
R441S |
probably benign |
Het |
| Vmn1r29 |
T |
C |
6: 58,284,285 (GRCm39) |
S2P |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,613,082 (GRCm39) |
I46L |
possibly damaging |
Het |
| Zeb1 |
A |
T |
18: 5,766,775 (GRCm39) |
I429F |
probably damaging |
Het |
| Zfp943 |
A |
G |
17: 22,212,176 (GRCm39) |
R421G |
probably benign |
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 |
|
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 |
|
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'- CATGGGCTGCCATTCTAGTTC -3'
(R):5'- TTCTCTCAGTGAAAGACAGAAGC -3'
Sequencing Primer
(F):5'- GCCAGCCACGTCTACAGTAGTG -3'
(R):5'- GAAGCCTAGAACCCCAGGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation