Incidental Mutation 'R0926:Pik3ap1'
ID |
83231 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3ap1
|
Ensembl Gene |
ENSMUSG00000025017 |
Gene Name |
phosphoinositide-3-kinase adaptor protein 1 |
Synonyms |
BCAP, 1810044J04Rik |
MMRRC Submission |
039073-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0926 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
41260980-41373541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41290964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 523
(S523P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059672]
|
AlphaFold |
Q9EQ32 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059672
AA Change: S523P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000052777 Gene: ENSMUSG00000025017 AA Change: S523P
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 |
|
Meta Mutation Damage Score |
0.1373 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
98% (61/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
T |
C |
9: 57,164,832 (GRCm39) |
D514G |
probably damaging |
Het |
Acbd7 |
A |
T |
2: 3,341,478 (GRCm39) |
I41F |
possibly damaging |
Het |
Actr8 |
G |
T |
14: 29,709,181 (GRCm39) |
V262L |
probably benign |
Het |
Anp32e |
A |
G |
3: 95,844,454 (GRCm39) |
D108G |
probably damaging |
Het |
Banp |
G |
A |
8: 122,747,294 (GRCm39) |
G448S |
probably benign |
Het |
Camsap3 |
G |
A |
8: 3,637,960 (GRCm39) |
|
probably null |
Het |
Cd22 |
C |
A |
7: 30,568,934 (GRCm39) |
|
probably null |
Het |
Cfap58 |
A |
T |
19: 47,951,001 (GRCm39) |
Q454L |
probably damaging |
Het |
Cntn4 |
C |
T |
6: 106,632,542 (GRCm39) |
T522I |
probably benign |
Het |
Col11a1 |
G |
A |
3: 113,883,829 (GRCm39) |
D233N |
unknown |
Het |
Csmd1 |
G |
T |
8: 16,083,590 (GRCm39) |
|
probably null |
Het |
Csmd3 |
T |
A |
15: 47,840,429 (GRCm39) |
Y946F |
probably damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,830,210 (GRCm39) |
P38Q |
probably damaging |
Het |
Dnal4 |
T |
C |
15: 79,646,226 (GRCm39) |
T93A |
probably benign |
Het |
Dsp |
A |
T |
13: 38,367,194 (GRCm39) |
D614V |
probably damaging |
Het |
Fcgr1 |
A |
T |
3: 96,199,682 (GRCm39) |
I75N |
possibly damaging |
Het |
Fgd6 |
T |
A |
10: 93,970,909 (GRCm39) |
Y1229N |
probably benign |
Het |
Fhip2a |
G |
A |
19: 57,369,522 (GRCm39) |
A383T |
probably damaging |
Het |
Frmpd1 |
T |
G |
4: 45,268,497 (GRCm39) |
L214R |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,602,337 (GRCm39) |
D603E |
probably damaging |
Het |
H2-M9 |
A |
G |
17: 36,952,665 (GRCm39) |
V127A |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,782,296 (GRCm39) |
S1328T |
possibly damaging |
Het |
Ica1l |
T |
C |
1: 60,045,456 (GRCm39) |
N269S |
probably benign |
Het |
Il18r1 |
T |
C |
1: 40,526,188 (GRCm39) |
Y245H |
probably damaging |
Het |
Il6ra |
A |
T |
3: 89,794,376 (GRCm39) |
V195E |
probably damaging |
Het |
Inpp5j |
A |
G |
11: 3,451,439 (GRCm39) |
|
probably benign |
Het |
Isy1 |
T |
C |
6: 87,796,125 (GRCm39) |
T271A |
probably benign |
Het |
Klra9 |
T |
C |
6: 130,155,993 (GRCm39) |
Y254C |
probably damaging |
Het |
Ly6e |
T |
G |
15: 74,830,219 (GRCm39) |
S73A |
probably damaging |
Het |
Mcmdc2 |
T |
A |
1: 9,990,801 (GRCm39) |
L326* |
probably null |
Het |
Muc4 |
G |
A |
16: 32,576,570 (GRCm39) |
|
probably benign |
Het |
Myh3 |
A |
G |
11: 66,981,340 (GRCm39) |
|
probably null |
Het |
Ndor1 |
G |
A |
2: 25,138,360 (GRCm39) |
H409Y |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,965,234 (GRCm39) |
D1606G |
probably damaging |
Het |
Or2t44 |
A |
G |
11: 58,677,935 (GRCm39) |
N292D |
probably damaging |
Het |
Or3a1d |
G |
A |
11: 74,238,132 (GRCm39) |
R93C |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,892 (GRCm39) |
Y60H |
probably damaging |
Het |
Or51f1e |
T |
C |
7: 102,747,092 (GRCm39) |
L48P |
probably damaging |
Het |
Or5b99 |
A |
T |
19: 12,976,554 (GRCm39) |
D68V |
probably damaging |
Het |
Or5h18 |
A |
G |
16: 58,848,051 (GRCm39) |
I73T |
possibly damaging |
Het |
Or5l13 |
A |
T |
2: 87,780,266 (GRCm39) |
F104I |
probably damaging |
Het |
Paox |
C |
A |
7: 139,713,951 (GRCm39) |
T237K |
probably damaging |
Het |
Pcmtd1 |
T |
A |
1: 7,231,243 (GRCm39) |
L4I |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,836,523 (GRCm39) |
T165S |
probably damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,162,338 (GRCm39) |
D1056G |
probably damaging |
Het |
Pitpnm2 |
G |
A |
5: 124,269,272 (GRCm39) |
T450I |
probably benign |
Het |
Pou2f3 |
T |
C |
9: 43,058,198 (GRCm39) |
D37G |
probably damaging |
Het |
Prdm5 |
A |
G |
6: 65,860,531 (GRCm39) |
H221R |
probably damaging |
Het |
Pwp1 |
T |
A |
10: 85,712,378 (GRCm39) |
I72N |
probably damaging |
Het |
Rhou |
A |
G |
8: 124,387,715 (GRCm39) |
E149G |
probably damaging |
Het |
She |
A |
G |
3: 89,758,901 (GRCm39) |
|
probably benign |
Het |
Slc26a9 |
A |
C |
1: 131,680,954 (GRCm39) |
H121P |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,979,432 (GRCm39) |
D1431G |
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,965,407 (GRCm39) |
D1634V |
probably benign |
Het |
Ttn |
A |
G |
2: 76,627,571 (GRCm39) |
|
probably benign |
Het |
Zc3h14 |
T |
A |
12: 98,724,849 (GRCm39) |
D170E |
possibly damaging |
Het |
Zcrb1 |
T |
C |
15: 93,289,409 (GRCm39) |
K51E |
probably damaging |
Het |
Zfp110 |
C |
T |
7: 12,583,808 (GRCm39) |
Q819* |
probably null |
Het |
Zfp616 |
A |
G |
11: 73,976,644 (GRCm39) |
N971S |
probably benign |
Het |
Zfp827 |
A |
T |
8: 79,844,821 (GRCm39) |
T664S |
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 |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAGTTCGTGCTGACCTATGACC -3'
(R):5'- ACCACCTTCAGGCAGGCAATTTC -3'
Sequencing Primer
(F):5'- AACCAGGATGTTCCTGCTGAG -3'
(R):5'- GCAGGCAATTTCCCGGAC -3'
|
Posted On |
2013-11-08 |