Incidental Mutation 'R6515:Pik3ap1'
| ID |
520644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3ap1
|
| Ensembl Gene |
ENSMUSG00000025017 |
| Gene Name |
phosphoinositide-3-kinase adaptor protein 1 |
| Synonyms |
BCAP, 1810044J04Rik |
| MMRRC Submission |
044642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6515 (G1)
|
| Quality Score |
161.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41260980-41373541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41364585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 45
(Y45H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059672]
|
| AlphaFold |
Q9EQ32 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059672
AA Change: Y45H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: Y45H
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
100% (41/41) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1s3 |
T |
C |
1: 79,592,044 (GRCm39) |
D102G |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,084,910 (GRCm39) |
M369K |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,411,903 (GRCm39) |
K46R |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,419,171 (GRCm39) |
|
probably null |
Het |
| Cabyr |
A |
G |
18: 12,887,340 (GRCm39) |
S324G |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,646,423 (GRCm39) |
D1832G |
possibly damaging |
Het |
| Cdk4 |
C |
T |
10: 126,902,052 (GRCm39) |
P256S |
probably null |
Het |
| Cnot6l |
C |
A |
5: 96,309,537 (GRCm39) |
|
probably benign |
Het |
| Cox17 |
C |
A |
16: 38,167,557 (GRCm39) |
A32E |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,884,119 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
A |
15: 54,723,489 (GRCm39) |
N628I |
possibly damaging |
Het |
| Ggcx |
T |
C |
6: 72,402,815 (GRCm39) |
C258R |
probably benign |
Het |
| Hbb-bh1 |
T |
C |
7: 103,491,974 (GRCm39) |
D80G |
probably damaging |
Het |
| Hoxb5 |
A |
T |
11: 96,195,908 (GRCm39) |
D252V |
probably damaging |
Het |
| Hspa4l |
A |
G |
3: 40,736,014 (GRCm39) |
D545G |
possibly damaging |
Het |
| Hspa5 |
T |
A |
2: 34,662,416 (GRCm39) |
V28E |
probably benign |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,899 (GRCm39) |
Y186C |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Kif19b |
T |
C |
5: 140,480,779 (GRCm39) |
S970P |
possibly damaging |
Het |
| Klra17 |
A |
T |
6: 129,808,462 (GRCm39) |
I257N |
probably damaging |
Het |
| Megf6 |
C |
T |
4: 154,343,376 (GRCm39) |
H662Y |
possibly damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,700,120 (GRCm39) |
K676R |
probably damaging |
Het |
| Nutm1 |
A |
C |
2: 112,086,665 (GRCm39) |
L22R |
probably benign |
Het |
| Oas1f |
T |
C |
5: 120,986,497 (GRCm39) |
V150A |
probably damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,639,467 (GRCm39) |
Y105C |
probably benign |
Het |
| Or4f62 |
T |
C |
2: 111,986,710 (GRCm39) |
L138P |
probably benign |
Het |
| Pnlip |
T |
C |
19: 58,661,547 (GRCm39) |
S79P |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,989,657 (GRCm39) |
D1185G |
possibly damaging |
Het |
| Pphln1-ps1 |
G |
A |
16: 13,494,820 (GRCm39) |
|
probably benign |
Het |
| Rbm34 |
A |
T |
8: 127,688,682 (GRCm39) |
S217T |
possibly damaging |
Het |
| Rbm44 |
T |
C |
1: 91,092,860 (GRCm39) |
I820T |
probably damaging |
Het |
| Rnf151 |
A |
T |
17: 24,935,391 (GRCm39) |
L180Q |
probably benign |
Het |
| Sec24d |
G |
A |
3: 123,136,719 (GRCm39) |
R484Q |
possibly damaging |
Het |
| Spop |
C |
A |
11: 95,376,761 (GRCm39) |
D271E |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,088,280 (GRCm39) |
G1723D |
probably damaging |
Het |
| Tenm3 |
G |
C |
8: 48,870,257 (GRCm39) |
Q179E |
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,356,302 (GRCm39) |
E63G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,501,085 (GRCm39) |
T441S |
possibly damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,794,193 (GRCm39) |
F177L |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,315,131 (GRCm39) |
S313T |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,100,584 (GRCm39) |
I1068T |
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,845,983 (GRCm39) |
R967G |
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 |
|
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 |
|
|
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'- GAAAGAAGGCCTGGAAGTCCTC -3'
(R):5'- TTTCAGAGAGCCTCCTAGAAGG -3'
Sequencing Primer
(F):5'- TGGAAGTCCTCGTCGCCTG -3'
(R):5'- CATCTTCTACAGCCCAGA -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation