Incidental Mutation 'R1565:Pi4ka'
| ID |
175227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4ka
|
| Ensembl Gene |
ENSMUSG00000041720 |
| Gene Name |
phosphatidylinositol 4-kinase alpha |
| Synonyms |
Pik4ca |
| MMRRC Submission |
039604-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1565 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17280351-17406314 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 17281900 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 96
(C96Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036161]
[ENSMUST00000154364]
[ENSMUST00000232232]
[ENSMUST00000232364]
[ENSMUST00000164950]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036161
AA Change: T1953I
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: T1953I
| 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 benign
Transcript: ENSMUST00000154364
AA Change: T1953I
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: T1953I
| 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: ENSMUST00000160007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162522
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232232
AA Change: T1953I
PolyPhen 2
Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000232364
AA Change: C96Y
|
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000231347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232092
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231517
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231638
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.0%
|
| Validation Efficiency |
96% (82/85) |
| 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 |
|---|
| 2810021J22Rik |
G |
A |
11: 58,880,501 (GRCm38) |
G270S |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,836,554 (GRCm38) |
T401A |
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,270,897 (GRCm38) |
M148K |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,268,957 (GRCm38) |
E508G |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,757,318 (GRCm38) |
L875H |
probably damaging |
Het |
| Cacng3 |
A |
T |
7: 122,768,401 (GRCm38) |
D168V |
probably damaging |
Het |
| Clpb |
G |
A |
7: 101,785,461 (GRCm38) |
R488Q |
probably benign |
Het |
| Cpxm2 |
A |
T |
7: 132,062,145 (GRCm38) |
Y350N |
probably damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,303,160 (GRCm38) |
*406R |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,829,614 (GRCm38) |
D4236E |
probably damaging |
Het |
| Dpf3 |
T |
A |
12: 83,370,617 (GRCm38) |
Y27F |
probably damaging |
Het |
| Esp4 |
T |
C |
17: 40,602,595 (GRCm38) |
*118Q |
probably null |
Het |
| Fam222b |
T |
C |
11: 78,154,662 (GRCm38) |
S222P |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,455,171 (GRCm38) |
V1933A |
probably damaging |
Het |
| Gem |
T |
C |
4: 11,713,709 (GRCm38) |
F282L |
possibly damaging |
Het |
| Gli2 |
T |
C |
1: 118,841,930 (GRCm38) |
T631A |
possibly damaging |
Het |
| Gm13088 |
G |
A |
4: 143,655,617 (GRCm38) |
Q170* |
probably null |
Het |
| Gpld1 |
T |
A |
13: 24,956,068 (GRCm38) |
V116E |
probably damaging |
Het |
| Gpr176 |
A |
G |
2: 118,280,214 (GRCm38) |
M188T |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,089,972 (GRCm38) |
V489A |
probably damaging |
Het |
| H2-Ke6 |
C |
T |
17: 34,027,495 (GRCm38) |
V105I |
possibly damaging |
Het |
| Hpdl |
T |
C |
4: 116,820,883 (GRCm38) |
N127S |
probably damaging |
Het |
| Id4 |
G |
T |
13: 48,262,294 (GRCm38) |
V151L |
possibly damaging |
Het |
| Kcnh8 |
G |
T |
17: 52,956,881 (GRCm38) |
G802V |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,242,743 (GRCm38) |
S894I |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,972,384 (GRCm38) |
N184S |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,519,821 (GRCm38) |
S226T |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 101,887,521 (GRCm38) |
Q472L |
probably damaging |
Het |
| Mog |
G |
C |
17: 37,017,582 (GRCm38) |
N152K |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 138,116,405 (GRCm38) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,252,509 (GRCm38) |
V953A |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,340,280 (GRCm38) |
Y509F |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,315,192 (GRCm38) |
N303S |
possibly damaging |
Het |
| Nek3 |
T |
C |
8: 22,132,201 (GRCm38) |
|
probably null |
Het |
| Nlrc4 |
A |
T |
17: 74,441,931 (GRCm38) |
D771E |
probably benign |
Het |
| Nup160 |
A |
T |
2: 90,722,061 (GRCm38) |
N1127I |
possibly damaging |
Het |
| Oas1h |
A |
T |
5: 120,862,600 (GRCm38) |
N91I |
probably damaging |
Het |
| Olfr1225 |
A |
T |
2: 89,170,627 (GRCm38) |
V195D |
probably benign |
Het |
| Olfr1226 |
G |
T |
2: 89,193,883 (GRCm38) |
S50R |
probably damaging |
Het |
| Olfr1342 |
T |
A |
4: 118,690,192 (GRCm38) |
N87Y |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,589,872 (GRCm38) |
|
probably benign |
Het |
| Pira2 |
A |
T |
7: 3,844,549 (GRCm38) |
F47Y |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,347,457 (GRCm38) |
G2490V |
probably damaging |
Het |
| Plekhg1 |
C |
T |
10: 3,940,526 (GRCm38) |
T394I |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,091,997 (GRCm38) |
|
probably benign |
Het |
| Rab3ip |
A |
T |
10: 116,939,223 (GRCm38) |
C77S |
probably benign |
Het |
| Reln |
A |
T |
5: 21,925,213 (GRCm38) |
M2700K |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,073,946 (GRCm38) |
T59A |
probably benign |
Het |
| Ric8b |
G |
T |
10: 84,980,099 (GRCm38) |
V405L |
probably benign |
Het |
| Rufy3 |
G |
T |
5: 88,640,632 (GRCm38) |
A479S |
probably damaging |
Het |
| Sardh |
A |
T |
2: 27,242,719 (GRCm38) |
Y166N |
probably damaging |
Het |
| Slamf6 |
T |
G |
1: 171,934,408 (GRCm38) |
V132G |
possibly damaging |
Het |
| Slc12a3 |
T |
G |
8: 94,345,877 (GRCm38) |
H674Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,281,654 (GRCm38) |
V830M |
possibly damaging |
Het |
| Srsf9 |
A |
G |
5: 115,327,370 (GRCm38) |
N21S |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,950,090 (GRCm38) |
T391S |
probably benign |
Het |
| Sumf2 |
C |
A |
5: 129,859,914 (GRCm38) |
N230K |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,235,569 (GRCm38) |
V22A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,596,041 (GRCm38) |
S194T |
possibly damaging |
Het |
| Tmem27 |
A |
G |
X: 164,118,234 (GRCm38) |
D184G |
possibly damaging |
Het |
| Tnn |
T |
A |
1: 160,097,265 (GRCm38) |
Y1173F |
probably damaging |
Het |
| Top2a |
A |
G |
11: 99,001,054 (GRCm38) |
F1122L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 73,025,967 (GRCm38) |
R377W |
probably damaging |
Het |
| Trim39 |
G |
A |
17: 36,268,854 (GRCm38) |
R70W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,794,261 (GRCm38) |
T15289I |
probably damaging |
Het |
| Ugt2b38 |
A |
T |
5: 87,411,914 (GRCm38) |
V373E |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,607,159 (GRCm38) |
S24P |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,231,634 (GRCm38) |
G51S |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,667,594 (GRCm38) |
A579T |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,952,427 (GRCm38) |
S247P |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,777,088 (GRCm38) |
P376L |
probably benign |
Het |
| Zfp251 |
T |
A |
15: 76,853,038 (GRCm38) |
R613S |
probably damaging |
Het |
| Zfp251 |
C |
T |
15: 76,853,039 (GRCm38) |
R613K |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,779,075 (GRCm38) |
D135G |
probably benign |
Het |
|
| Other mutations in Pi4ka |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Pi4ka
|
APN |
16 |
17,308,144 (GRCm38) |
missense |
probably benign |
|
|
IGL00984:Pi4ka
|
APN |
16 |
17,358,932 (GRCm38) |
nonsense |
probably null |
|
|
IGL01066:Pi4ka
|
APN |
16 |
17,348,773 (GRCm38) |
splice site |
probably benign |
|
|
IGL01460:Pi4ka
|
APN |
16 |
17,357,651 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01505:Pi4ka
|
APN |
16 |
17,309,358 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL01518:Pi4ka
|
APN |
16 |
17,280,735 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01533:Pi4ka
|
APN |
16 |
17,308,201 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL01565:Pi4ka
|
APN |
16 |
17,389,442 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL01679:Pi4ka
|
APN |
16 |
17,296,888 (GRCm38) |
splice site |
probably benign |
|
|
IGL01685:Pi4ka
|
APN |
16 |
17,325,202 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL01734:Pi4ka
|
APN |
16 |
17,297,260 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL01799:Pi4ka
|
APN |
16 |
17,389,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01969:Pi4ka
|
APN |
16 |
17,378,483 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL02092:Pi4ka
|
APN |
16 |
17,318,496 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02113:Pi4ka
|
APN |
16 |
17,373,415 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02177:Pi4ka
|
APN |
16 |
17,318,282 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02400:Pi4ka
|
APN |
16 |
17,293,884 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02426:Pi4ka
|
APN |
16 |
17,378,432 (GRCm38) |
splice site |
probably benign |
|
|
IGL02474:Pi4ka
|
APN |
16 |
17,325,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02587:Pi4ka
|
APN |
16 |
17,317,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02667:Pi4ka
|
APN |
16 |
17,295,461 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02698:Pi4ka
|
APN |
16 |
17,291,168 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02815:Pi4ka
|
APN |
16 |
17,358,889 (GRCm38) |
splice site |
probably benign |
|
|
IGL02828:Pi4ka
|
APN |
16 |
17,280,711 (GRCm38) |
intron |
probably benign |
|
|
IGL02939:Pi4ka
|
APN |
16 |
17,354,210 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03123:Pi4ka
|
APN |
16 |
17,282,675 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03148:Pi4ka
|
APN |
16 |
17,354,189 (GRCm38) |
missense |
probably damaging |
0.99 |
|
arachnoid
|
UTSW |
16 |
17,285,281 (GRCm38) |
unclassified |
probably benign |
|
|
dove_bar
|
UTSW |
16 |
17,326,052 (GRCm38) |
splice site |
probably null |
|
|
mia
|
UTSW |
16 |
17,376,982 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
Pia
|
UTSW |
16 |
17,281,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
G1patch:Pi4ka
|
UTSW |
16 |
17,376,982 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL03098:Pi4ka
|
UTSW |
16 |
17,326,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0024:Pi4ka
|
UTSW |
16 |
17,315,535 (GRCm38) |
splice site |
probably benign |
|
|
R0054:Pi4ka
|
UTSW |
16 |
17,325,114 (GRCm38) |
missense |
probably null |
1.00 |
|
R0054:Pi4ka
|
UTSW |
16 |
17,325,114 (GRCm38) |
missense |
probably null |
1.00 |
|
R0243:Pi4ka
|
UTSW |
16 |
17,297,635 (GRCm38) |
missense |
probably benign |
0.44 |
|
R0374:Pi4ka
|
UTSW |
16 |
17,282,932 (GRCm38) |
unclassified |
probably benign |
|
|
R0478:Pi4ka
|
UTSW |
16 |
17,309,311 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0548:Pi4ka
|
UTSW |
16 |
17,307,718 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0626:Pi4ka
|
UTSW |
16 |
17,293,901 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0918:Pi4ka
|
UTSW |
16 |
17,285,260 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1082:Pi4ka
|
UTSW |
16 |
17,389,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1384:Pi4ka
|
UTSW |
16 |
17,297,537 (GRCm38) |
splice site |
probably benign |
|
|
R1455:Pi4ka
|
UTSW |
16 |
17,363,954 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1479:Pi4ka
|
UTSW |
16 |
17,373,400 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1490:Pi4ka
|
UTSW |
16 |
17,386,268 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1594:Pi4ka
|
UTSW |
16 |
17,373,419 (GRCm38) |
splice site |
probably benign |
|
|
R1641:Pi4ka
|
UTSW |
16 |
17,377,030 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1694:Pi4ka
|
UTSW |
16 |
17,295,376 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1828:Pi4ka
|
UTSW |
16 |
17,280,750 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1864:Pi4ka
|
UTSW |
16 |
17,367,525 (GRCm38) |
nonsense |
probably null |
|
|
R2036:Pi4ka
|
UTSW |
16 |
17,303,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2151:Pi4ka
|
UTSW |
16 |
17,367,507 (GRCm38) |
missense |
probably benign |
0.44 |
|
R2844:Pi4ka
|
UTSW |
16 |
17,350,793 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2876:Pi4ka
|
UTSW |
16 |
17,367,550 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R3953:Pi4ka
|
UTSW |
16 |
17,285,281 (GRCm38) |
unclassified |
probably benign |
|
|
R3972:Pi4ka
|
UTSW |
16 |
17,293,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4357:Pi4ka
|
UTSW |
16 |
17,367,439 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4385:Pi4ka
|
UTSW |
16 |
17,386,265 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4427:Pi4ka
|
UTSW |
16 |
17,281,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4436:Pi4ka
|
UTSW |
16 |
17,282,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4677:Pi4ka
|
UTSW |
16 |
17,282,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4683:Pi4ka
|
UTSW |
16 |
17,297,037 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R4736:Pi4ka
|
UTSW |
16 |
17,377,175 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4804:Pi4ka
|
UTSW |
16 |
17,308,161 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R4886:Pi4ka
|
UTSW |
16 |
17,358,361 (GRCm38) |
missense |
|
|
|
R4893:Pi4ka
|
UTSW |
16 |
17,377,036 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4896:Pi4ka
|
UTSW |
16 |
17,377,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5004:Pi4ka
|
UTSW |
16 |
17,377,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5015:Pi4ka
|
UTSW |
16 |
17,303,082 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5062:Pi4ka
|
UTSW |
16 |
17,309,397 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5104:Pi4ka
|
UTSW |
16 |
17,281,050 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5160:Pi4ka
|
UTSW |
16 |
17,323,053 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5173:Pi4ka
|
UTSW |
16 |
17,350,906 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5204:Pi4ka
|
UTSW |
16 |
17,359,045 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5307:Pi4ka
|
UTSW |
16 |
17,323,030 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5327:Pi4ka
|
UTSW |
16 |
17,325,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5506:Pi4ka
|
UTSW |
16 |
17,293,953 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5580:Pi4ka
|
UTSW |
16 |
17,281,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5768:Pi4ka
|
UTSW |
16 |
17,354,872 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5857:Pi4ka
|
UTSW |
16 |
17,358,984 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5951:Pi4ka
|
UTSW |
16 |
17,303,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5953:Pi4ka
|
UTSW |
16 |
17,281,951 (GRCm38) |
missense |
|
|
|
R6041:Pi4ka
|
UTSW |
16 |
17,360,572 (GRCm38) |
missense |
probably benign |
|
|
R6223:Pi4ka
|
UTSW |
16 |
17,357,571 (GRCm38) |
nonsense |
probably null |
|
|
R6416:Pi4ka
|
UTSW |
16 |
17,358,322 (GRCm38) |
missense |
probably benign |
0.22 |
|
R6535:Pi4ka
|
UTSW |
16 |
17,301,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6580:Pi4ka
|
UTSW |
16 |
17,350,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6720:Pi4ka
|
UTSW |
16 |
17,326,052 (GRCm38) |
splice site |
probably null |
|
|
R6723:Pi4ka
|
UTSW |
16 |
17,376,982 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6725:Pi4ka
|
UTSW |
16 |
17,376,982 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6752:Pi4ka
|
UTSW |
16 |
17,376,982 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6753:Pi4ka
|
UTSW |
16 |
17,376,982 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6755:Pi4ka
|
UTSW |
16 |
17,376,982 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6767:Pi4ka
|
UTSW |
16 |
17,376,982 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6768:Pi4ka
|
UTSW |
16 |
17,376,982 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6782:Pi4ka
|
UTSW |
16 |
17,376,982 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6782:Pi4ka
|
UTSW |
16 |
17,325,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6788:Pi4ka
|
UTSW |
16 |
17,376,982 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6849:Pi4ka
|
UTSW |
16 |
17,303,421 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R6958:Pi4ka
|
UTSW |
16 |
17,325,227 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7014:Pi4ka
|
UTSW |
16 |
17,297,067 (GRCm38) |
unclassified |
probably benign |
|
|
R7055:Pi4ka
|
UTSW |
16 |
17,317,015 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R7317:Pi4ka
|
UTSW |
16 |
17,405,632 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7533:Pi4ka
|
UTSW |
16 |
17,297,661 (GRCm38) |
missense |
|
|
|
R7552:Pi4ka
|
UTSW |
16 |
17,291,216 (GRCm38) |
missense |
|
|
|
R7581:Pi4ka
|
UTSW |
16 |
17,301,060 (GRCm38) |
missense |
|
|
|
R7622:Pi4ka
|
UTSW |
16 |
17,293,977 (GRCm38) |
missense |
|
|
|
R7717:Pi4ka
|
UTSW |
16 |
17,376,923 (GRCm38) |
missense |
|
|
|
R8048:Pi4ka
|
UTSW |
16 |
17,303,127 (GRCm38) |
missense |
|
|
|
R8052:Pi4ka
|
UTSW |
16 |
17,356,166 (GRCm38) |
missense |
|
|
|
R8079:Pi4ka
|
UTSW |
16 |
17,303,060 (GRCm38) |
missense |
|
|
|
R8123:Pi4ka
|
UTSW |
16 |
17,281,092 (GRCm38) |
missense |
|
|
|
R8211:Pi4ka
|
UTSW |
16 |
17,282,905 (GRCm38) |
missense |
|
|
|
R8310:Pi4ka
|
UTSW |
16 |
17,354,048 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8322:Pi4ka
|
UTSW |
16 |
17,357,573 (GRCm38) |
missense |
|
|
|
R8509:Pi4ka
|
UTSW |
16 |
17,354,144 (GRCm38) |
missense |
|
|
|
R8735:Pi4ka
|
UTSW |
16 |
17,318,370 (GRCm38) |
missense |
|
|
|
R8912:Pi4ka
|
UTSW |
16 |
17,389,366 (GRCm38) |
missense |
|
|
|
R8917:Pi4ka
|
UTSW |
16 |
17,312,446 (GRCm38) |
missense |
|
|
|
R8921:Pi4ka
|
UTSW |
16 |
17,307,740 (GRCm38) |
missense |
|
|
|
R8941:Pi4ka
|
UTSW |
16 |
17,296,943 (GRCm38) |
unclassified |
probably benign |
|
|
R9002:Pi4ka
|
UTSW |
16 |
17,299,453 (GRCm38) |
missense |
|
|
|
R9203:Pi4ka
|
UTSW |
16 |
17,282,301 (GRCm38) |
missense |
|
|
|
R9222:Pi4ka
|
UTSW |
16 |
17,358,361 (GRCm38) |
missense |
|
|
|
R9230:Pi4ka
|
UTSW |
16 |
17,281,924 (GRCm38) |
missense |
|
|
|
R9262:Pi4ka
|
UTSW |
16 |
17,302,995 (GRCm38) |
missense |
|
|
|
R9338:Pi4ka
|
UTSW |
16 |
17,317,363 (GRCm38) |
missense |
|
|
|
R9374:Pi4ka
|
UTSW |
16 |
17,307,710 (GRCm38) |
missense |
|
|
|
R9436:Pi4ka
|
UTSW |
16 |
17,307,806 (GRCm38) |
missense |
|
|
|
R9499:Pi4ka
|
UTSW |
16 |
17,307,710 (GRCm38) |
missense |
|
|
|
R9501:Pi4ka
|
UTSW |
16 |
17,386,292 (GRCm38) |
missense |
|
|
|
R9551:Pi4ka
|
UTSW |
16 |
17,307,710 (GRCm38) |
missense |
|
|
|
R9705:Pi4ka
|
UTSW |
16 |
17,281,951 (GRCm38) |
missense |
|
|
|
RF007:Pi4ka
|
UTSW |
16 |
17,297,233 (GRCm38) |
missense |
|
|
|
U24488:Pi4ka
|
UTSW |
16 |
17,325,176 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACATGATCTGAGTGCTGAACTCC -3'
(R):5'- AATGGCAGCCCATGCTCTTGGTAG -3'
Sequencing Primer
(F):5'- GAACTCCTTTTCAGTGCCACTAAG -3'
(R):5'- CCCATGCTCTTGGTAGAAGTGAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation