Incidental Mutation 'R5580:Pi4ka'
| ID |
438438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pi4ka
|
| Ensembl Gene |
ENSMUSG00000041720 |
| Gene Name |
phosphatidylinositol 4-kinase alpha |
| Synonyms |
Pik4ca |
| MMRRC Submission |
043134-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5580 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17098215-17224178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17098951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1978
(S1978P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036161]
[ENSMUST00000069420]
[ENSMUST00000154364]
[ENSMUST00000159065]
[ENSMUST00000164950]
[ENSMUST00000159242]
[ENSMUST00000159811]
[ENSMUST00000159494]
[ENSMUST00000161775]
[ENSMUST00000162085]
[ENSMUST00000232232]
[ENSMUST00000232364]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036161
AA Change: S1978P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: S1978P
| 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: S1978P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122550
Gene: ENSMUSG00000041720
AA Change: S1978P
| 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: S143P
| Domain | Start | End | E-Value | Type |
|---|
|
PI3Kc
|
57 |
207 |
1.3e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162522
|
| 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 |
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: 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: 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: 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: ENSMUST00000159494
|
| 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: 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: S1978P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232220
|
| 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: ENSMUST00000232092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232636
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231517
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
A |
G |
7: 43,900,664 (GRCm39) |
T73A |
possibly damaging |
Het |
| A1bg |
A |
T |
15: 60,790,881 (GRCm39) |
V365E |
probably benign |
Het |
| Abcg5 |
A |
C |
17: 84,967,582 (GRCm39) |
V406G |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,152,086 (GRCm39) |
Y192C |
probably benign |
Het |
| Add3 |
C |
T |
19: 53,233,642 (GRCm39) |
S649L |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,286,228 (GRCm39) |
C1129* |
probably null |
Het |
| Arsb |
T |
A |
13: 93,944,053 (GRCm39) |
V248D |
probably damaging |
Het |
| AW554918 |
A |
T |
18: 25,472,922 (GRCm39) |
N39I |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,540,566 (GRCm39) |
I1383N |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,760,232 (GRCm39) |
V625D |
possibly damaging |
Het |
| Cd9 |
A |
G |
6: 125,441,420 (GRCm39) |
L67P |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,852,126 (GRCm39) |
Y80* |
probably null |
Het |
| Csf2ra |
A |
G |
19: 61,214,655 (GRCm39) |
L223P |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,604,094 (GRCm39) |
K421E |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,348,098 (GRCm39) |
R223G |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,582,225 (GRCm39) |
V167A |
probably benign |
Het |
| Eps8l3 |
A |
G |
3: 107,788,919 (GRCm39) |
T81A |
probably damaging |
Het |
| Esrra |
T |
C |
19: 6,897,755 (GRCm39) |
M1V |
probably null |
Het |
| Evpl |
C |
A |
11: 116,125,058 (GRCm39) |
A135S |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,578,132 (GRCm39) |
I209V |
probably benign |
Het |
| Fbxl19 |
C |
A |
7: 127,350,168 (GRCm39) |
C253* |
probably null |
Het |
| Fer1l5 |
T |
A |
1: 36,424,539 (GRCm39) |
Y305* |
probably null |
Het |
| Fzd2 |
A |
C |
11: 102,496,665 (GRCm39) |
I370L |
probably damaging |
Het |
| Gnl3 |
T |
C |
14: 30,737,242 (GRCm39) |
K212R |
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,790,179 (GRCm39) |
L207P |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,538,818 (GRCm39) |
F155I |
probably damaging |
Het |
| Grhl1 |
G |
A |
12: 24,659,739 (GRCm39) |
G500S |
probably benign |
Het |
| Gucd1 |
C |
A |
10: 75,346,968 (GRCm39) |
G55V |
possibly damaging |
Het |
| Haus6 |
A |
T |
4: 86,517,503 (GRCm39) |
I287K |
possibly damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,453,290 (GRCm39) |
P5342S |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,788,092 (GRCm39) |
S577P |
probably benign |
Het |
| Ido2 |
T |
A |
8: 25,040,882 (GRCm39) |
I113F |
possibly damaging |
Het |
| Ifrd2 |
C |
T |
9: 107,469,511 (GRCm39) |
P396S |
probably damaging |
Het |
| Igkv4-86 |
T |
A |
6: 68,887,990 (GRCm39) |
|
probably benign |
Het |
| Ipo11 |
A |
G |
13: 107,037,255 (GRCm39) |
V196A |
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,128,287 (GRCm39) |
E138G |
probably damaging |
Het |
| Kidins220 |
T |
G |
12: 25,097,896 (GRCm39) |
C1179G |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,927,128 (GRCm39) |
|
probably null |
Het |
| Klk1 |
T |
A |
7: 43,878,238 (GRCm39) |
Y63N |
probably benign |
Het |
| L3mbtl3 |
T |
G |
10: 26,179,604 (GRCm39) |
D517A |
unknown |
Het |
| Lars1 |
G |
T |
18: 42,347,916 (GRCm39) |
P969H |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,424,389 (GRCm39) |
V766I |
probably benign |
Het |
| Lrrc8c |
A |
G |
5: 105,755,553 (GRCm39) |
I443V |
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,387,985 (GRCm39) |
M439V |
probably null |
Het |
| Magi2 |
T |
A |
5: 20,420,422 (GRCm39) |
M286K |
probably benign |
Het |
| Med11 |
T |
C |
11: 70,342,891 (GRCm39) |
|
probably null |
Het |
| Med13l |
A |
G |
5: 118,889,695 (GRCm39) |
K1819E |
possibly damaging |
Het |
| Ms4a14 |
T |
A |
19: 11,280,590 (GRCm39) |
Q656L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,084 (GRCm39) |
T2677A |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,722,367 (GRCm39) |
L1186H |
probably damaging |
Het |
| Naca |
C |
A |
10: 127,876,462 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,281,761 (GRCm39) |
I828T |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,280,604 (GRCm39) |
C75* |
probably null |
Het |
| Nepn |
A |
C |
10: 52,280,398 (GRCm39) |
S497R |
probably damaging |
Het |
| Nf2 |
A |
G |
11: 4,753,689 (GRCm39) |
F222L |
probably damaging |
Het |
| Nlrp9b |
A |
C |
7: 19,757,089 (GRCm39) |
T109P |
probably damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,352,302 (GRCm39) |
F22I |
probably benign |
Het |
| Ogg1 |
A |
G |
6: 113,306,337 (GRCm39) |
Y178C |
probably damaging |
Het |
| Or1e22 |
G |
T |
11: 73,377,036 (GRCm39) |
P205T |
probably benign |
Het |
| Or4b12 |
C |
A |
2: 90,096,694 (GRCm39) |
V27L |
probably benign |
Het |
| Or5b119 |
T |
A |
19: 13,456,791 (GRCm39) |
Y257F |
probably damaging |
Het |
| Or5b21 |
G |
A |
19: 12,839,168 (GRCm39) |
V10M |
possibly damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,668 (GRCm39) |
M100K |
possibly damaging |
Het |
| Osr1 |
G |
A |
12: 9,629,325 (GRCm39) |
R66Q |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,603,531 (GRCm39) |
Q239L |
probably damaging |
Het |
| Pin1rt1 |
A |
G |
2: 104,544,670 (GRCm39) |
I154T |
probably damaging |
Het |
| Pkdcc |
A |
G |
17: 83,527,511 (GRCm39) |
T230A |
probably damaging |
Het |
| Por |
A |
T |
5: 135,762,675 (GRCm39) |
I430F |
probably damaging |
Het |
| Prb1c |
T |
C |
6: 132,338,432 (GRCm39) |
N262S |
unknown |
Het |
| Prkcsh |
T |
A |
9: 21,922,551 (GRCm39) |
|
probably null |
Het |
| Pros1 |
A |
G |
16: 62,746,689 (GRCm39) |
|
probably null |
Het |
| Pus10 |
T |
A |
11: 23,622,556 (GRCm39) |
L59I |
probably benign |
Het |
| Pxmp2 |
A |
G |
5: 110,431,542 (GRCm39) |
V67A |
possibly damaging |
Het |
| Rab3gap1 |
C |
A |
1: 127,858,727 (GRCm39) |
A612E |
probably benign |
Het |
| Rpap2 |
A |
G |
5: 107,768,011 (GRCm39) |
E206G |
probably benign |
Het |
| Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,672,293 (GRCm39) |
G1393R |
probably damaging |
Het |
| Scara5 |
T |
C |
14: 65,968,528 (GRCm39) |
M267T |
probably benign |
Het |
| Sema5a |
A |
T |
15: 32,575,031 (GRCm39) |
I380F |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,026,279 (GRCm39) |
S180P |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,966,922 (GRCm39) |
K536R |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,748,125 (GRCm39) |
|
probably benign |
Het |
| Spata31d1e |
A |
T |
13: 59,890,070 (GRCm39) |
D583E |
probably benign |
Het |
| Strc |
T |
C |
2: 121,205,493 (GRCm39) |
K879R |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,260,206 (GRCm39) |
E731G |
probably benign |
Het |
| Syngap1 |
G |
A |
17: 27,181,305 (GRCm39) |
A9T |
probably damaging |
Het |
| Tex15 |
C |
T |
8: 34,062,457 (GRCm39) |
T903I |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,557,149 (GRCm39) |
I937V |
possibly damaging |
Het |
| Tm9sf4 |
T |
C |
2: 153,024,350 (GRCm39) |
Y58H |
probably damaging |
Het |
| Tsen2 |
A |
T |
6: 115,554,941 (GRCm39) |
D458V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,748,146 (GRCm39) |
D4301V |
probably benign |
Het |
| Txk |
C |
A |
5: 72,864,932 (GRCm39) |
L314F |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,553,384 (GRCm39) |
T919A |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,460,187 (GRCm39) |
M641V |
probably damaging |
Het |
| Usp4 |
C |
T |
9: 108,243,058 (GRCm39) |
T242I |
probably benign |
Het |
| Usp53 |
A |
G |
3: 122,727,883 (GRCm39) |
S900P |
probably benign |
Het |
| Vmn1r225 |
T |
C |
17: 20,723,101 (GRCm39) |
Y181H |
probably damaging |
Het |
| Vmn1r83 |
T |
A |
7: 12,055,800 (GRCm39) |
I86L |
probably benign |
Het |
| Vmn2r65 |
T |
C |
7: 84,596,802 (GRCm39) |
I84M |
probably damaging |
Het |
| Vstm2b |
A |
G |
7: 40,552,050 (GRCm39) |
H126R |
probably damaging |
Het |
| Zfp524 |
A |
T |
7: 5,021,416 (GRCm39) |
I315F |
probably benign |
Het |
| Zfp975 |
A |
T |
7: 42,314,513 (GRCm39) |
L20* |
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 |
|
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 |
|
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'- AGTATGCTCCCTGATCCTCG -3'
(R):5'- AGAGCATCTTTGAAACCCCTG -3'
Sequencing Primer
(F):5'- TGATCCTCGCCAGCAATTACTAGG -3'
(R):5'- TTTGAAACCCCTGCTGGAAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation