Incidental Mutation 'R5274:Pik3ap1'
ID |
403858 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3ap1
|
Ensembl Gene |
ENSMUSG00000025017 |
Gene Name |
phosphoinositide-3-kinase adaptor protein 1 |
Synonyms |
BCAP, 1810044J04Rik |
MMRRC Submission |
042837-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5274 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
41260980-41373541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41270391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 766
(D766G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059672]
|
AlphaFold |
Q9EQ32 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059672
AA Change: D766G
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000052777 Gene: ENSMUSG00000025017 AA Change: D766G
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 |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 98.0%
- 20x: 96.9%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,092,856 (GRCm39) |
R155H |
probably benign |
Het |
Ace |
T |
C |
11: 105,858,863 (GRCm39) |
M19T |
probably benign |
Het |
Agl |
A |
G |
3: 116,566,135 (GRCm39) |
L995P |
probably damaging |
Het |
AY761185 |
T |
C |
8: 21,433,889 (GRCm39) |
N90S |
unknown |
Het |
Brca2 |
T |
C |
5: 150,463,154 (GRCm39) |
S973P |
probably benign |
Het |
Cacna1e |
T |
C |
1: 154,576,250 (GRCm39) |
T66A |
probably damaging |
Het |
Cbarp |
T |
C |
10: 79,967,649 (GRCm39) |
S531G |
possibly damaging |
Het |
Cby2 |
A |
G |
14: 75,820,666 (GRCm39) |
V362A |
probably benign |
Het |
Cd96 |
G |
T |
16: 45,890,066 (GRCm39) |
T319K |
possibly damaging |
Het |
Ceacam23 |
T |
C |
7: 17,649,642 (GRCm39) |
|
probably null |
Het |
Chil5 |
A |
C |
3: 105,936,169 (GRCm39) |
F41C |
probably damaging |
Het |
Col24a1 |
A |
C |
3: 145,190,433 (GRCm39) |
E1239D |
probably benign |
Het |
Dip2b |
A |
G |
15: 100,109,985 (GRCm39) |
E1490G |
possibly damaging |
Het |
Dync1li1 |
T |
C |
9: 114,544,273 (GRCm39) |
V315A |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,116,540 (GRCm39) |
S99G |
probably benign |
Het |
Dynlt5 |
A |
T |
4: 102,859,768 (GRCm39) |
T103S |
possibly damaging |
Het |
E2f8 |
C |
T |
7: 48,516,925 (GRCm39) |
R818H |
probably damaging |
Het |
Eomes |
T |
C |
9: 118,309,597 (GRCm39) |
V250A |
probably damaging |
Het |
Esyt3 |
T |
C |
9: 99,200,350 (GRCm39) |
T615A |
probably benign |
Het |
Fbxo38 |
A |
T |
18: 62,648,140 (GRCm39) |
D799E |
probably damaging |
Het |
Fdft1 |
A |
G |
14: 63,389,792 (GRCm39) |
F288S |
probably damaging |
Het |
Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
Gm4871 |
C |
G |
5: 144,967,180 (GRCm39) |
E185Q |
probably damaging |
Het |
Gm5901 |
C |
A |
7: 105,026,655 (GRCm39) |
P141Q |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,306,691 (GRCm39) |
I933N |
probably benign |
Het |
Ifih1 |
T |
C |
2: 62,442,062 (GRCm39) |
Q385R |
probably benign |
Het |
Ighmbp2 |
T |
C |
19: 3,315,518 (GRCm39) |
E634G |
probably damaging |
Het |
Klk6 |
C |
G |
7: 43,478,553 (GRCm39) |
|
probably null |
Het |
Kmt2d |
A |
G |
15: 98,752,111 (GRCm39) |
|
probably benign |
Het |
Lig3 |
T |
A |
11: 82,688,118 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
C |
2: 41,234,456 (GRCm39) |
D310G |
probably null |
Het |
Mroh6 |
A |
G |
15: 75,756,849 (GRCm39) |
V571A |
possibly damaging |
Het |
Olfm5 |
A |
G |
7: 103,809,190 (GRCm39) |
S132P |
probably damaging |
Het |
Or52n20 |
T |
C |
7: 104,320,733 (GRCm39) |
S275P |
probably damaging |
Het |
Or5p64 |
A |
T |
7: 107,854,842 (GRCm39) |
F168I |
probably benign |
Het |
Pacc1 |
T |
C |
1: 191,080,665 (GRCm39) |
V295A |
probably damaging |
Het |
Patj |
G |
C |
4: 98,407,218 (GRCm39) |
S4T |
probably damaging |
Het |
Pcdhga12 |
T |
A |
18: 37,899,475 (GRCm39) |
C102* |
probably null |
Het |
Plch2 |
A |
T |
4: 155,083,411 (GRCm39) |
L408Q |
probably damaging |
Het |
Pnma2 |
G |
T |
14: 67,154,209 (GRCm39) |
R211L |
probably damaging |
Het |
Prkg2 |
T |
A |
5: 99,117,850 (GRCm39) |
H468L |
probably damaging |
Het |
Rad1 |
T |
A |
15: 10,488,059 (GRCm39) |
|
probably null |
Het |
Rims3 |
A |
G |
4: 120,748,571 (GRCm39) |
D264G |
probably damaging |
Het |
Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
Rrm2 |
T |
A |
12: 24,760,406 (GRCm39) |
Y75* |
probably null |
Het |
Sall3 |
T |
C |
18: 81,013,052 (GRCm39) |
N1128S |
probably benign |
Het |
Slc26a5 |
T |
C |
5: 22,018,899 (GRCm39) |
T610A |
possibly damaging |
Het |
Snx29 |
G |
T |
16: 11,556,268 (GRCm39) |
E766D |
probably damaging |
Het |
Sox17 |
A |
G |
1: 4,562,111 (GRCm39) |
V298A |
possibly damaging |
Het |
Ss18 |
G |
A |
18: 14,774,106 (GRCm39) |
Q228* |
probably null |
Het |
Tas2r121 |
A |
G |
6: 132,677,811 (GRCm39) |
S54P |
probably damaging |
Het |
Ttc21b |
T |
C |
2: 66,066,627 (GRCm39) |
E342G |
possibly damaging |
Het |
Ubap2l |
A |
G |
3: 89,920,037 (GRCm39) |
Y818H |
probably damaging |
Het |
Usp15 |
C |
A |
10: 123,004,256 (GRCm39) |
R166I |
probably damaging |
Het |
Vmn1r34 |
T |
G |
6: 66,614,123 (GRCm39) |
H205P |
probably damaging |
Het |
Vmn2r22 |
A |
T |
6: 123,627,593 (GRCm39) |
M1K |
probably null |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Zdhhc1 |
T |
C |
8: 106,210,402 (GRCm39) |
N5S |
probably benign |
Het |
Zfp758 |
T |
A |
17: 22,594,836 (GRCm39) |
C441S |
probably benign |
Het |
Zp2 |
T |
C |
7: 119,737,315 (GRCm39) |
E291G |
possibly 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 |
|
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 |
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'- ACAGGTATCTCCATTGGCTGTG -3'
(R):5'- GAAAACTGCCATTGTCACCAGG -3'
Sequencing Primer
(F):5'- CCATTGGCTGTGTGCTTGCTC -3'
(R):5'- GCCATTGTCACCAGGTTGAC -3'
|
Posted On |
2016-07-22 |