Incidental Mutation 'R5327:Pi4ka'
| ID |
422083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4ka
|
| Ensembl Gene |
ENSMUSG00000041720 |
| Gene Name |
phosphatidylinositol 4-kinase alpha |
| Synonyms |
Pik4ca |
| MMRRC Submission |
042910-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5327 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17098215-17224178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 17143277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 794
(K794T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036161]
[ENSMUST00000139768]
[ENSMUST00000154364]
[ENSMUST00000231651]
[ENSMUST00000232232]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036161
AA Change: K794T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: K794T
| 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: ENSMUST00000132300
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139768
AA Change: K11T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154364
AA Change: K794T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: K794T
| 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 damaging
Transcript: ENSMUST00000231651
AA Change: K11T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231961
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000232232
AA Change: K794T
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000232404
AA Change: K116T
|
| Meta Mutation Damage Score |
0.1592 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (101/101) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,668,740 (GRCm39) |
S36G |
probably damaging |
Het |
| Aarsd1 |
T |
C |
11: 101,301,203 (GRCm39) |
N280D |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,335,686 (GRCm39) |
M2099K |
probably damaging |
Het |
| Abcb5 |
T |
A |
12: 118,875,278 (GRCm39) |
E631D |
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,415,149 (GRCm39) |
L682Q |
probably null |
Het |
| Adamts14 |
G |
A |
10: 61,034,267 (GRCm39) |
P1207L |
probably benign |
Het |
| Adora1 |
G |
A |
1: 134,130,748 (GRCm39) |
R308* |
probably null |
Het |
| Arcn1 |
A |
T |
9: 44,668,444 (GRCm39) |
V264E |
probably benign |
Het |
| B3galt1 |
G |
A |
2: 67,949,112 (GRCm39) |
G276S |
probably damaging |
Het |
| Bms1 |
A |
T |
6: 118,382,179 (GRCm39) |
M453K |
possibly damaging |
Het |
| Bnip3l |
T |
C |
14: 67,225,180 (GRCm39) |
Y218C |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,390,805 (GRCm39) |
E379G |
probably null |
Het |
| Cacng6 |
G |
A |
7: 3,483,376 (GRCm39) |
G235R |
probably damaging |
Het |
| Capn8 |
A |
T |
1: 182,456,169 (GRCm39) |
T640S |
probably benign |
Het |
| Ccdc106 |
T |
C |
7: 5,063,159 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
A |
T |
9: 57,993,860 (GRCm39) |
N95K |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,719,907 (GRCm39) |
|
probably benign |
Het |
| Cemip |
A |
T |
7: 83,604,509 (GRCm39) |
N844K |
probably damaging |
Het |
| Chrdl2 |
A |
T |
7: 99,677,948 (GRCm39) |
T284S |
probably damaging |
Het |
| Ckm |
A |
G |
7: 19,154,090 (GRCm39) |
Y279C |
probably damaging |
Het |
| Clvs1 |
A |
T |
4: 9,424,261 (GRCm39) |
I236F |
probably damaging |
Het |
| Col9a1 |
T |
C |
1: 24,234,620 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
C |
8: 17,266,728 (GRCm39) |
E66G |
possibly damaging |
Het |
| Ctdsp2 |
A |
G |
10: 126,831,923 (GRCm39) |
D26G |
probably damaging |
Het |
| Ctsll3 |
C |
A |
13: 60,946,721 (GRCm39) |
|
probably null |
Het |
| Cyp2d12 |
A |
T |
15: 82,439,423 (GRCm39) |
M26L |
probably benign |
Het |
| Cyp8b1 |
C |
T |
9: 121,743,950 (GRCm39) |
D461N |
probably damaging |
Het |
| Dbt |
A |
T |
3: 116,322,220 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,704,728 (GRCm39) |
D2247G |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,400,994 (GRCm39) |
I166V |
possibly damaging |
Het |
| Duoxa1 |
T |
A |
2: 122,134,361 (GRCm39) |
E252D |
probably damaging |
Het |
| Ezr |
T |
A |
17: 7,020,448 (GRCm39) |
K211M |
probably damaging |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Fahd2a |
T |
C |
2: 127,283,878 (GRCm39) |
D54G |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 78,003,146 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
A |
G |
17: 7,991,540 (GRCm39) |
S719P |
unknown |
Het |
| Gas7 |
G |
T |
11: 67,552,916 (GRCm39) |
G159C |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,574,063 (GRCm39) |
D130G |
probably damaging |
Het |
| Gli3 |
T |
G |
13: 15,723,092 (GRCm39) |
S78A |
probably damaging |
Het |
| Gtpbp6 |
A |
G |
5: 110,254,770 (GRCm39) |
F101S |
probably damaging |
Het |
| Gzme |
G |
A |
14: 56,355,224 (GRCm39) |
H236Y |
probably benign |
Het |
| Hira |
T |
C |
16: 18,773,508 (GRCm39) |
Y943H |
probably damaging |
Het |
| Hmbox1 |
G |
A |
14: 65,134,144 (GRCm39) |
S152L |
possibly damaging |
Het |
| Ibtk |
A |
G |
9: 85,619,519 (GRCm39) |
|
probably null |
Het |
| Jade1 |
T |
C |
3: 41,568,413 (GRCm39) |
I827T |
possibly damaging |
Het |
| Jakmip3 |
A |
T |
7: 138,627,164 (GRCm39) |
E389D |
possibly damaging |
Het |
| Klhdc8b |
A |
T |
9: 108,326,241 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,014,942 (GRCm39) |
T1589A |
probably benign |
Het |
| Lbx2 |
A |
C |
6: 83,064,784 (GRCm39) |
K107T |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,503,522 (GRCm39) |
M259V |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,620 (GRCm39) |
K344R |
probably damaging |
Het |
| Ltb |
A |
T |
17: 35,414,935 (GRCm39) |
E245V |
probably damaging |
Het |
| Macf1 |
GCCCCC |
GCCCCCC |
4: 123,244,784 (GRCm39) |
|
probably null |
Het |
| Map3k13 |
T |
A |
16: 21,740,397 (GRCm39) |
S575T |
possibly damaging |
Het |
| Mcpt2 |
A |
T |
14: 56,280,833 (GRCm39) |
I74F |
probably damaging |
Het |
| Mpeg1 |
T |
A |
19: 12,439,013 (GRCm39) |
V157D |
probably damaging |
Het |
| Mrpl21 |
A |
T |
19: 3,337,009 (GRCm39) |
|
probably null |
Het |
| Nagpa |
T |
C |
16: 5,017,877 (GRCm39) |
T99A |
possibly damaging |
Het |
| Nphs1 |
A |
T |
7: 30,163,250 (GRCm39) |
I469F |
probably benign |
Het |
| Nyap2 |
A |
G |
1: 81,169,756 (GRCm39) |
E171G |
possibly damaging |
Het |
| Oas1e |
A |
G |
5: 120,930,006 (GRCm39) |
Y171H |
probably damaging |
Het |
| Or10ag59 |
T |
A |
2: 87,406,043 (GRCm39) |
V205D |
probably damaging |
Het |
| Or2y1f |
T |
C |
11: 49,184,493 (GRCm39) |
L115P |
probably damaging |
Het |
| Or5ac23 |
T |
C |
16: 59,149,461 (GRCm39) |
K137R |
probably benign |
Het |
| Or5h26 |
T |
C |
16: 58,987,983 (GRCm39) |
I174M |
possibly damaging |
Het |
| Otud7b |
C |
A |
3: 96,063,055 (GRCm39) |
Q765K |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,017,216 (GRCm39) |
V851A |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,410,258 (GRCm39) |
N2588K |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,186,837 (GRCm39) |
M471K |
probably benign |
Het |
| Plagl2 |
T |
C |
2: 153,077,759 (GRCm39) |
H74R |
possibly damaging |
Het |
| Prf1 |
T |
A |
10: 61,136,037 (GRCm39) |
N104K |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,093,586 (GRCm39) |
I358N |
probably damaging |
Het |
| Rcsd1 |
A |
G |
1: 165,482,872 (GRCm39) |
|
probably null |
Het |
| Rev1 |
G |
A |
1: 38,147,532 (GRCm39) |
R3* |
probably null |
Het |
| Rp1 |
T |
C |
1: 4,419,583 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
G |
A |
19: 41,881,035 (GRCm39) |
T132I |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,649,357 (GRCm39) |
V702A |
probably benign |
Het |
| Serpinb12 |
A |
G |
1: 106,884,174 (GRCm39) |
N307D |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,070,383 (GRCm39) |
L103P |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,281,765 (GRCm39) |
C413R |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,883,793 (GRCm39) |
Q255* |
probably null |
Het |
| Synpo |
T |
A |
18: 60,736,918 (GRCm39) |
I343F |
possibly damaging |
Het |
| Tcirg1 |
A |
G |
19: 3,952,342 (GRCm39) |
|
probably null |
Het |
| Tmem132c |
A |
G |
5: 127,640,816 (GRCm39) |
T996A |
possibly damaging |
Het |
| Trim10 |
A |
G |
17: 37,181,081 (GRCm39) |
E104G |
probably damaging |
Het |
| Trpc1 |
T |
C |
9: 95,603,524 (GRCm39) |
|
probably null |
Het |
| Tspo2 |
A |
T |
17: 48,756,887 (GRCm39) |
|
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,479,174 (GRCm39) |
I258N |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,418,846 (GRCm39) |
L2998P |
probably damaging |
Het |
| Vmn1r45 |
A |
C |
6: 89,910,123 (GRCm39) |
D162E |
possibly damaging |
Het |
| Vmn2r117 |
A |
T |
17: 23,696,848 (GRCm39) |
Y186* |
probably null |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,698 (GRCm39) |
F769S |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,192,942 (GRCm39) |
I514V |
probably benign |
Het |
| Zfp329 |
A |
C |
7: 12,545,421 (GRCm39) |
D34E |
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 |
|
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 |
|
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'- TGGTACTTCGGAGCTCACTC -3'
(R):5'- CTGTGCTGGGAAAATGTCCTTAC -3'
Sequencing Primer
(F):5'- TCGGAGCTCACTCAGTTCAG -3'
(R):5'- ACTCATTTGGTCAGGTGGCCTAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation