Incidental Mutation 'R5104:Pi4ka'
| ID |
392593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4ka
|
| Ensembl Gene |
ENSMUSG00000041720 |
| Gene Name |
phosphatidylinositol 4-kinase alpha |
| Synonyms |
Pik4ca |
| MMRRC Submission |
042692-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5104 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17098215-17224178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17098914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 1990
(C1990Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036161]
[ENSMUST00000069420]
[ENSMUST00000154364]
[ENSMUST00000159811]
[ENSMUST00000159242]
[ENSMUST00000161775]
[ENSMUST00000159065]
[ENSMUST00000159494]
[ENSMUST00000164950]
[ENSMUST00000162085]
[ENSMUST00000232232]
[ENSMUST00000232364]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036161
AA Change: C1990Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: C1990Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
253 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
268 |
675 |
2e-3 |
SMART |
|
low complexity region
|
895 |
907 |
N/A |
INTRINSIC |
|
PI3Ka
|
1483 |
1671 |
2.11e-54 |
SMART |
|
Blast:PI3Kc
|
1688 |
1762 |
2e-39 |
BLAST |
|
PI3Kc
|
1788 |
2041 |
4.04e-106 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069420
|
| SMART Domains |
Protein: ENSMUSP00000068902
Gene: ENSMUSG00000055692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM191C
|
1 |
121 |
3.1e-69 |
PFAM |
|
| 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: C1990Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: C1990Y
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123156
Gene: ENSMUSG00000041720
AA Change: C155Y
| Domain | Start | End | E-Value | Type |
|---|
|
PI3Kc
|
57 |
207 |
1.3e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159811
|
| SMART Domains |
Protein: ENSMUSP00000123710
Gene: ENSMUSG00000055692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM191C
|
1 |
121 |
3.1e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159242
|
| SMART Domains |
Protein: ENSMUSP00000124757
Gene: ENSMUSG00000055692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM191C
|
1 |
121 |
3.1e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161775
|
| SMART Domains |
Protein: ENSMUSP00000123917
Gene: ENSMUSG00000055692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM191C
|
1 |
121 |
3.1e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159065
|
| SMART Domains |
Protein: ENSMUSP00000123791
Gene: ENSMUSG00000055692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM191C
|
1 |
121 |
3.1e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159494
|
| 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 benign
Transcript: ENSMUST00000162085
|
| SMART Domains |
Protein: ENSMUSP00000124217
Gene: ENSMUSG00000055692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM191C
|
1 |
59 |
1.2e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232232
AA Change: C1990Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231917
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231517
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231347
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.0%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
G |
10: 77,158,121 (GRCm39) |
F109L |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,903,974 (GRCm39) |
Q241L |
possibly damaging |
Het |
| Apof |
C |
T |
10: 128,105,487 (GRCm39) |
R214* |
probably null |
Het |
| Armh4 |
A |
T |
14: 50,010,929 (GRCm39) |
D259E |
possibly damaging |
Het |
| Atl2 |
A |
T |
17: 80,160,046 (GRCm39) |
S47T |
probably benign |
Het |
| Azgp1 |
T |
G |
5: 137,985,815 (GRCm39) |
I146S |
probably damaging |
Het |
| Bicral |
G |
A |
17: 47,112,182 (GRCm39) |
T1006I |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,729 (GRCm39) |
N540I |
probably damaging |
Het |
| Ccdc77 |
T |
C |
6: 120,325,346 (GRCm39) |
|
probably null |
Het |
| Cxcr5 |
G |
T |
9: 44,424,616 (GRCm39) |
P347Q |
probably benign |
Het |
| Cyp4a14 |
T |
G |
4: 115,353,126 (GRCm39) |
H62P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 37,126,509 (GRCm39) |
E157G |
possibly damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Ehd3 |
A |
G |
17: 74,134,442 (GRCm39) |
N267S |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,933,973 (GRCm39) |
Y58C |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,169,814 (GRCm39) |
Y2982H |
possibly damaging |
Het |
| Frmd3 |
C |
A |
4: 74,063,315 (GRCm39) |
A214D |
probably damaging |
Het |
| Gabrg1 |
A |
C |
5: 70,931,775 (GRCm39) |
S323A |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,228,007 (GRCm39) |
I592V |
probably benign |
Het |
| Gje1 |
G |
A |
10: 14,592,462 (GRCm39) |
Q107* |
probably null |
Het |
| Gm29609 |
T |
C |
5: 31,311,638 (GRCm39) |
|
probably null |
Het |
| Gpam |
A |
T |
19: 55,082,418 (GRCm39) |
F78I |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,515,377 (GRCm39) |
R252G |
probably damaging |
Het |
| Hsd3b5 |
T |
A |
3: 98,526,592 (GRCm39) |
S285C |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,507 (GRCm39) |
K37E |
possibly damaging |
Het |
| Igkv8-34 |
T |
C |
6: 70,021,138 (GRCm39) |
D108G |
probably damaging |
Het |
| Il6st |
C |
G |
13: 112,625,182 (GRCm39) |
T266S |
probably benign |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,776,138 (GRCm39) |
T307A |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,269,265 (GRCm39) |
R2552C |
probably damaging |
Het |
| Krt4 |
T |
A |
15: 101,828,758 (GRCm39) |
R369W |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,883,964 (GRCm39) |
M8K |
probably damaging |
Het |
| Lrit3 |
T |
A |
3: 129,582,040 (GRCm39) |
H528L |
possibly damaging |
Het |
| Mia3 |
A |
G |
1: 183,119,579 (GRCm39) |
L157S |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,622,140 (GRCm39) |
Y32* |
probably null |
Het |
| Nbea |
A |
G |
3: 55,987,348 (GRCm39) |
Y381H |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,268,159 (GRCm39) |
V475A |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,976,246 (GRCm39) |
I347M |
probably benign |
Het |
| Or11h4b |
T |
A |
14: 50,918,159 (GRCm39) |
K311* |
probably null |
Het |
| Or2ag17 |
A |
T |
7: 106,389,539 (GRCm39) |
F223Y |
possibly damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or2y3 |
A |
T |
17: 38,393,174 (GRCm39) |
S232T |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 163,885,507 (GRCm39) |
I420K |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,655,415 (GRCm39) |
Q223L |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,575,964 (GRCm39) |
|
probably null |
Het |
| Proz |
A |
G |
8: 13,116,931 (GRCm39) |
D161G |
probably damaging |
Het |
| Ptprb |
C |
A |
10: 116,158,364 (GRCm39) |
H765Q |
probably benign |
Het |
| Relch |
T |
C |
1: 105,658,965 (GRCm39) |
V883A |
probably benign |
Het |
| Rffl |
A |
T |
11: 82,703,619 (GRCm39) |
C101* |
probably null |
Het |
| Rfx5 |
C |
T |
3: 94,862,451 (GRCm39) |
T36I |
probably benign |
Het |
| Rnase12 |
C |
A |
14: 51,294,361 (GRCm39) |
C106F |
probably damaging |
Het |
| Samd3 |
T |
C |
10: 26,139,686 (GRCm39) |
S273P |
possibly damaging |
Het |
| Simc1 |
A |
G |
13: 54,674,175 (GRCm39) |
D841G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,260,908 (GRCm39) |
E607G |
probably null |
Het |
| Snrnp40 |
G |
T |
4: 130,258,958 (GRCm39) |
G122V |
possibly damaging |
Het |
| Snx25 |
T |
C |
8: 46,521,203 (GRCm39) |
*143W |
probably null |
Het |
| Taf15 |
A |
G |
11: 83,378,222 (GRCm39) |
Y154C |
probably damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,105,756 (GRCm39) |
V333A |
possibly damaging |
Het |
| Tiam1 |
A |
G |
16: 89,614,929 (GRCm39) |
S2P |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,925,142 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
T |
C |
14: 123,170,257 (GRCm39) |
D585G |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,264,114 (GRCm39) |
S34P |
probably benign |
Het |
| Trbv13-2 |
T |
C |
6: 41,098,745 (GRCm39) |
Y107H |
probably damaging |
Het |
| Tuba3a |
A |
G |
6: 125,259,347 (GRCm39) |
V115A |
probably benign |
Het |
| Tut1 |
A |
G |
19: 8,936,698 (GRCm39) |
E174G |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,768,600 (GRCm39) |
M469K |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,805,591 (GRCm39) |
|
probably benign |
Het |
| Wapl |
C |
T |
14: 34,414,016 (GRCm39) |
Q293* |
probably null |
Het |
| Wdr24 |
A |
G |
17: 26,043,565 (GRCm39) |
H129R |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,757,895 (GRCm39) |
|
probably null |
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 |
|
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'- AGGCATTTGTGGGAATCTGC -3'
(R):5'- AGTGCTATATGTGGTCCTGC -3'
Sequencing Primer
(F):5'- CCCAGGGACATTATGCTGTG -3'
(R):5'- TCCTGCTAGCAGATTGTATGGAGAAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation