Incidental Mutation 'IGL02601:Pik3ap1'
ID |
300083 |
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 # |
IGL02601
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
41260980-41373541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 41290881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 550
(N550K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059672]
|
AlphaFold |
Q9EQ32 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059672
AA Change: N550K
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000052777 Gene: ENSMUSG00000025017 AA Change: N550K
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap1 |
C |
T |
5: 139,293,541 (GRCm39) |
V57M |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,688,369 (GRCm39) |
K23E |
possibly damaging |
Het |
Anln |
A |
T |
9: 22,249,331 (GRCm39) |
I132K |
probably damaging |
Het |
Anxa4 |
T |
C |
6: 86,737,683 (GRCm39) |
T13A |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,235,022 (GRCm39) |
Y191N |
possibly damaging |
Het |
Carm1 |
G |
A |
9: 21,498,204 (GRCm39) |
V403M |
probably damaging |
Het |
Cbx7 |
A |
G |
15: 79,807,671 (GRCm39) |
|
probably null |
Het |
Chd8 |
A |
C |
14: 52,451,757 (GRCm39) |
N16K |
possibly damaging |
Het |
Crtc3 |
A |
T |
7: 80,242,315 (GRCm39) |
D499E |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,249,432 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,060,631 (GRCm39) |
D1421G |
probably damaging |
Het |
Fgb |
T |
A |
3: 82,952,367 (GRCm39) |
E167D |
probably benign |
Het |
Gimap6 |
T |
A |
6: 48,679,409 (GRCm39) |
Q209L |
probably damaging |
Het |
Gm3604 |
G |
A |
13: 62,517,990 (GRCm39) |
H123Y |
possibly damaging |
Het |
Gm5884 |
A |
T |
6: 128,622,749 (GRCm39) |
|
noncoding transcript |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Obox3 |
T |
C |
7: 15,360,848 (GRCm39) |
E97G |
probably damaging |
Het |
Obsl1 |
T |
C |
1: 75,466,264 (GRCm39) |
H1488R |
probably benign |
Het |
Or4e1 |
A |
T |
14: 52,700,802 (GRCm39) |
Y221* |
probably null |
Het |
Or6c75 |
A |
G |
10: 129,337,723 (GRCm39) |
*323W |
probably null |
Het |
Pak5 |
T |
A |
2: 135,958,855 (GRCm39) |
K78* |
probably null |
Het |
Paqr9 |
A |
G |
9: 95,442,877 (GRCm39) |
N289S |
probably damaging |
Het |
Pde3b |
G |
A |
7: 114,122,577 (GRCm39) |
R715H |
probably damaging |
Het |
Pglyrp2 |
T |
C |
17: 32,634,835 (GRCm39) |
H509R |
probably benign |
Het |
Pon3 |
A |
G |
6: 5,221,671 (GRCm39) |
Y320H |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,608,227 (GRCm39) |
T690S |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,000,686 (GRCm39) |
D925E |
probably benign |
Het |
Rag1 |
T |
C |
2: 101,473,018 (GRCm39) |
D708G |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Rbmy1b |
A |
G |
Y: 3,774,885 (GRCm39) |
I27M |
probably benign |
Het |
Rfx2 |
G |
A |
17: 57,092,354 (GRCm39) |
H315Y |
possibly damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sis |
T |
C |
3: 72,820,543 (GRCm39) |
N1407S |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,490,555 (GRCm39) |
L261Q |
probably damaging |
Het |
Sox30 |
T |
G |
11: 45,875,589 (GRCm39) |
L447R |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ssu72 |
A |
G |
4: 155,789,882 (GRCm39) |
N15S |
possibly damaging |
Het |
Stat4 |
C |
T |
1: 52,137,574 (GRCm39) |
S455F |
probably damaging |
Het |
Stk4 |
T |
A |
2: 163,928,462 (GRCm39) |
L97Q |
probably damaging |
Het |
Sulf1 |
A |
T |
1: 12,856,869 (GRCm39) |
N40I |
probably damaging |
Het |
Sympk |
G |
A |
7: 18,782,794 (GRCm39) |
V877I |
probably benign |
Het |
Taar7b |
A |
T |
10: 23,876,204 (GRCm39) |
H123L |
probably damaging |
Het |
Teddm1b |
A |
G |
1: 153,750,362 (GRCm39) |
Y57C |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,070,935 (GRCm39) |
C2121* |
probably null |
Het |
Tnfsf11 |
T |
A |
14: 78,537,385 (GRCm39) |
R93* |
probably null |
Het |
Tspan12 |
A |
C |
6: 21,835,378 (GRCm39) |
|
probably benign |
Het |
Tyrp1 |
A |
G |
4: 80,759,012 (GRCm39) |
E295G |
probably null |
Het |
Vps4a |
T |
C |
8: 107,769,693 (GRCm39) |
I334T |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,583,462 (GRCm39) |
S1110P |
probably damaging |
Het |
Zfp507 |
A |
G |
7: 35,491,136 (GRCm39) |
S716P |
probably damaging |
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 |
IGL01743:Pik3ap1
|
APN |
19 |
41,281,267 (GRCm39) |
splice site |
probably benign |
|
IGL02006:Pik3ap1
|
APN |
19 |
41,291,032 (GRCm39) |
missense |
probably benign |
|
IGL02507:Pik3ap1
|
APN |
19 |
41,270,451 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-04-16 |