Incidental Mutation 'IGL01743:Pik3ap1'
ID |
152958 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pik3ap1
|
Ensembl Gene |
ENSMUSG00000025017 |
Gene Name |
phosphoinositide-3-kinase adaptor protein 1 |
Synonyms |
BCAP, 1810044J04Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01743
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
41260980-41373541 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 41281267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059672]
|
AlphaFold |
Q9EQ32 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059672
|
SMART Domains |
Protein: ENSMUSP00000052777 Gene: ENSMUSG00000025017
Domain | Start | End | E-Value | Type |
DBB
|
180 |
319 |
8.55e-75 |
SMART |
SCOP:d1bd8__
|
331 |
396 |
8e-5 |
SMART |
Blast:ANK
|
336 |
365 |
1e-7 |
BLAST |
low complexity region
|
533 |
552 |
N/A |
INTRINSIC |
low complexity region
|
716 |
740 |
N/A |
INTRINSIC |
low complexity region
|
802 |
808 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene have abnormalities in B cell maturation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
T |
7: 45,646,238 (GRCm39) |
N750K |
probably benign |
Het |
Ackr2 |
T |
C |
9: 121,738,566 (GRCm39) |
C314R |
probably benign |
Het |
Adar |
C |
T |
3: 89,652,747 (GRCm39) |
Q210* |
probably null |
Het |
Aifm1 |
A |
G |
X: 47,569,153 (GRCm39) |
|
probably benign |
Het |
Aldoa |
G |
T |
7: 126,395,875 (GRCm39) |
D198E |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 103,002,201 (GRCm39) |
|
probably benign |
Het |
Arhgef18 |
G |
T |
8: 3,414,697 (GRCm39) |
C25F |
probably benign |
Het |
Btnl1 |
T |
C |
17: 34,604,659 (GRCm39) |
I480T |
probably damaging |
Het |
Capn9 |
T |
C |
8: 125,318,508 (GRCm39) |
S125P |
probably benign |
Het |
Cd40lg |
T |
A |
X: 56,257,592 (GRCm39) |
Y26* |
probably null |
Het |
Cdc42bpg |
G |
T |
19: 6,359,853 (GRCm39) |
|
probably null |
Het |
Cdh10 |
T |
C |
15: 18,986,855 (GRCm39) |
L362P |
probably benign |
Het |
Dhx16 |
A |
G |
17: 36,199,000 (GRCm39) |
D782G |
probably damaging |
Het |
Dnajb14 |
G |
T |
3: 137,611,761 (GRCm39) |
V320L |
possibly damaging |
Het |
Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
Ercc6 |
T |
C |
14: 32,274,561 (GRCm39) |
V568A |
probably damaging |
Het |
Faf2 |
T |
C |
13: 54,789,311 (GRCm39) |
|
probably null |
Het |
Fbrsl1 |
C |
T |
5: 110,529,506 (GRCm39) |
V223M |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,351,598 (GRCm39) |
V282A |
probably damaging |
Het |
Fxr2 |
C |
T |
11: 69,543,448 (GRCm39) |
L650F |
possibly damaging |
Het |
Gabrq |
A |
G |
X: 71,880,448 (GRCm39) |
M314V |
probably benign |
Het |
Gnas |
T |
A |
2: 174,140,125 (GRCm39) |
Y157* |
probably null |
Het |
Gtf2i |
T |
C |
5: 134,315,747 (GRCm39) |
E175G |
probably damaging |
Het |
Gtf3c1 |
A |
C |
7: 125,262,587 (GRCm39) |
Y1091D |
probably damaging |
Het |
Heatr5b |
G |
A |
17: 79,132,069 (GRCm39) |
Q345* |
probably null |
Het |
Hydin |
T |
C |
8: 111,319,408 (GRCm39) |
V4437A |
possibly damaging |
Het |
Idi2 |
T |
A |
13: 9,008,578 (GRCm39) |
L112Q |
probably damaging |
Het |
Ift80 |
C |
T |
3: 68,869,629 (GRCm39) |
V221M |
probably benign |
Het |
Il16 |
A |
G |
7: 83,301,507 (GRCm39) |
F205S |
probably benign |
Het |
Irf1 |
T |
A |
11: 53,665,277 (GRCm39) |
M218K |
probably benign |
Het |
Itga8 |
T |
C |
2: 12,270,144 (GRCm39) |
N114S |
probably benign |
Het |
Itgae |
T |
C |
11: 73,002,585 (GRCm39) |
V114A |
probably benign |
Het |
Klhdc10 |
A |
G |
6: 30,441,933 (GRCm39) |
|
probably null |
Het |
Krt78 |
C |
A |
15: 101,859,333 (GRCm39) |
R288L |
probably benign |
Het |
Lars2 |
A |
T |
9: 123,282,313 (GRCm39) |
L632F |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,235,919 (GRCm39) |
D1220G |
probably damaging |
Het |
Msl1 |
C |
T |
11: 98,696,245 (GRCm39) |
T597I |
probably damaging |
Het |
Mtor |
T |
C |
4: 148,615,070 (GRCm39) |
|
probably benign |
Het |
Myo1b |
T |
C |
1: 51,821,179 (GRCm39) |
T435A |
probably damaging |
Het |
Neb |
A |
G |
2: 52,115,679 (GRCm39) |
Y4176H |
probably damaging |
Het |
Nxpe3 |
A |
G |
16: 55,670,128 (GRCm39) |
F326L |
probably benign |
Het |
Or13a21 |
T |
C |
7: 139,999,581 (GRCm39) |
Y35C |
probably damaging |
Het |
Or2ag1 |
A |
G |
7: 106,313,541 (GRCm39) |
S116P |
possibly damaging |
Het |
Pak5 |
T |
A |
2: 135,929,333 (GRCm39) |
R617W |
probably damaging |
Het |
Peak1 |
C |
A |
9: 56,166,486 (GRCm39) |
V481L |
probably damaging |
Het |
Pmm1 |
C |
T |
15: 81,844,987 (GRCm39) |
E6K |
probably benign |
Het |
Ppp2r5c |
G |
A |
12: 110,546,868 (GRCm39) |
V454M |
probably benign |
Het |
Ptprf |
C |
T |
4: 118,106,095 (GRCm39) |
|
probably null |
Het |
Pygm |
G |
A |
19: 6,443,024 (GRCm39) |
|
probably null |
Het |
Rimbp2 |
T |
A |
5: 128,874,912 (GRCm39) |
|
probably benign |
Het |
Rps6ka5 |
A |
T |
12: 100,541,892 (GRCm39) |
|
probably null |
Het |
Scarb2 |
A |
G |
5: 92,608,662 (GRCm39) |
V188A |
probably benign |
Het |
Sfrp1 |
T |
A |
8: 23,902,354 (GRCm39) |
|
probably benign |
Het |
Siglec15 |
T |
A |
18: 78,086,820 (GRCm39) |
|
probably benign |
Het |
Smgc |
A |
G |
15: 91,738,796 (GRCm39) |
I485V |
probably benign |
Het |
Tas2r124 |
A |
G |
6: 132,731,798 (GRCm39) |
I36V |
probably benign |
Het |
Trmt10b |
G |
T |
4: 45,305,879 (GRCm39) |
G185W |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,727,352 (GRCm39) |
N798S |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,619,896 (GRCm39) |
T15924N |
probably damaging |
Het |
Utrn |
A |
T |
10: 12,587,301 (GRCm39) |
Y912N |
possibly damaging |
Het |
Vmn2r113 |
T |
C |
17: 23,177,285 (GRCm39) |
Y690H |
probably benign |
Het |
Vmn2r51 |
T |
C |
7: 9,834,154 (GRCm39) |
R295G |
probably damaging |
Het |
Vpreb3 |
A |
G |
10: 75,784,231 (GRCm39) |
T14A |
probably benign |
Het |
|
Other mutations in Pik3ap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01412:Pik3ap1
|
APN |
19 |
41,364,329 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01697:Pik3ap1
|
APN |
19 |
41,313,018 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02006:Pik3ap1
|
APN |
19 |
41,291,032 (GRCm39) |
missense |
probably benign |
|
IGL02507:Pik3ap1
|
APN |
19 |
41,270,451 (GRCm39) |
splice site |
probably benign |
|
IGL02601:Pik3ap1
|
APN |
19 |
41,290,881 (GRCm39) |
missense |
probably benign |
0.08 |
Canvasback
|
UTSW |
19 |
41,310,069 (GRCm39) |
missense |
possibly damaging |
0.80 |
Eiderdown
|
UTSW |
19 |
41,312,924 (GRCm39) |
splice site |
silent |
|
Pintail
|
UTSW |
19 |
41,364,585 (GRCm39) |
missense |
probably benign |
0.00 |
Scaup
|
UTSW |
19 |
41,320,760 (GRCm39) |
missense |
probably damaging |
1.00 |
Scoter
|
UTSW |
19 |
41,310,024 (GRCm39) |
missense |
probably damaging |
1.00 |
sooni
|
UTSW |
19 |
41,316,348 (GRCm39) |
missense |
probably damaging |
1.00 |
sothe
|
UTSW |
19 |
41,356,683 (GRCm38) |
intron |
probably benign |
|
FR4449:Pik3ap1
|
UTSW |
19 |
41,270,385 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Pik3ap1
|
UTSW |
19 |
41,270,384 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Pik3ap1
|
UTSW |
19 |
41,270,384 (GRCm39) |
small insertion |
probably benign |
|
R0504:Pik3ap1
|
UTSW |
19 |
41,275,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R0505:Pik3ap1
|
UTSW |
19 |
41,313,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R0736:Pik3ap1
|
UTSW |
19 |
41,320,758 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0926:Pik3ap1
|
UTSW |
19 |
41,290,964 (GRCm39) |
missense |
probably benign |
0.00 |
R1521:Pik3ap1
|
UTSW |
19 |
41,309,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R1681:Pik3ap1
|
UTSW |
19 |
41,296,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R1779:Pik3ap1
|
UTSW |
19 |
41,320,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R1924:Pik3ap1
|
UTSW |
19 |
41,291,053 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1945:Pik3ap1
|
UTSW |
19 |
41,262,776 (GRCm39) |
missense |
probably benign |
|
R2327:Pik3ap1
|
UTSW |
19 |
41,284,828 (GRCm39) |
missense |
probably damaging |
0.99 |
R2891:Pik3ap1
|
UTSW |
19 |
41,364,500 (GRCm39) |
missense |
probably benign |
0.00 |
R2892:Pik3ap1
|
UTSW |
19 |
41,364,500 (GRCm39) |
missense |
probably benign |
0.00 |
R2893:Pik3ap1
|
UTSW |
19 |
41,364,500 (GRCm39) |
missense |
probably benign |
0.00 |
R2894:Pik3ap1
|
UTSW |
19 |
41,364,500 (GRCm39) |
missense |
probably benign |
0.00 |
R2918:Pik3ap1
|
UTSW |
19 |
41,290,970 (GRCm39) |
missense |
probably benign |
0.00 |
R4424:Pik3ap1
|
UTSW |
19 |
41,364,320 (GRCm39) |
missense |
probably benign |
0.00 |
R4654:Pik3ap1
|
UTSW |
19 |
41,316,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R4811:Pik3ap1
|
UTSW |
19 |
41,290,936 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4855:Pik3ap1
|
UTSW |
19 |
41,316,284 (GRCm39) |
missense |
probably benign |
0.13 |
R4885:Pik3ap1
|
UTSW |
19 |
41,364,365 (GRCm39) |
missense |
probably benign |
0.28 |
R5119:Pik3ap1
|
UTSW |
19 |
41,270,415 (GRCm39) |
missense |
probably benign |
0.18 |
R5261:Pik3ap1
|
UTSW |
19 |
41,364,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R5274:Pik3ap1
|
UTSW |
19 |
41,270,391 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5655:Pik3ap1
|
UTSW |
19 |
41,286,680 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5862:Pik3ap1
|
UTSW |
19 |
41,320,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R5924:Pik3ap1
|
UTSW |
19 |
41,284,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R6015:Pik3ap1
|
UTSW |
19 |
41,316,640 (GRCm39) |
missense |
probably benign |
0.22 |
R6018:Pik3ap1
|
UTSW |
19 |
41,373,455 (GRCm39) |
start gained |
probably benign |
|
R6515:Pik3ap1
|
UTSW |
19 |
41,364,585 (GRCm39) |
missense |
probably benign |
0.00 |
R6792:Pik3ap1
|
UTSW |
19 |
41,310,065 (GRCm39) |
missense |
probably benign |
0.14 |
R7135:Pik3ap1
|
UTSW |
19 |
41,320,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R7162:Pik3ap1
|
UTSW |
19 |
41,309,965 (GRCm39) |
missense |
probably benign |
0.03 |
R7175:Pik3ap1
|
UTSW |
19 |
41,275,929 (GRCm39) |
missense |
probably damaging |
0.98 |
R7313:Pik3ap1
|
UTSW |
19 |
41,284,815 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7664:Pik3ap1
|
UTSW |
19 |
41,310,069 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7786:Pik3ap1
|
UTSW |
19 |
41,310,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R8375:Pik3ap1
|
UTSW |
19 |
41,316,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R8707:Pik3ap1
|
UTSW |
19 |
41,313,039 (GRCm39) |
missense |
probably damaging |
0.99 |
R8770:Pik3ap1
|
UTSW |
19 |
41,316,599 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9015:Pik3ap1
|
UTSW |
19 |
41,270,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R9100:Pik3ap1
|
UTSW |
19 |
41,312,924 (GRCm39) |
splice site |
silent |
|
R9369:Pik3ap1
|
UTSW |
19 |
41,317,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R9664:Pik3ap1
|
UTSW |
19 |
41,296,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |