Incidental Mutation 'R8770:Pik3ap1'
| ID |
664383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3ap1
|
| Ensembl Gene |
ENSMUSG00000025017 |
| Gene Name |
phosphoinositide-3-kinase adaptor protein 1 |
| Synonyms |
BCAP, 1810044J04Rik |
| MMRRC Submission |
068625-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8770 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41260980-41373541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41316599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 264
(Y264H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059672]
|
| AlphaFold |
Q9EQ32 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059672
AA Change: Y264H
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: Y264H
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (66/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
C |
17: 14,104,199 (GRCm39) |
|
probably null |
Het |
| Aox1 |
A |
T |
1: 58,378,763 (GRCm39) |
K1004M |
probably benign |
Het |
| Atn1 |
C |
T |
6: 124,722,601 (GRCm39) |
|
probably null |
Het |
| Atp8b4 |
T |
C |
2: 126,184,915 (GRCm39) |
Y916C |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,420,448 (GRCm39) |
L766S |
probably damaging |
Het |
| Bmpr2 |
T |
G |
1: 59,884,684 (GRCm39) |
D223E |
probably benign |
Het |
| Bpifc |
T |
G |
10: 85,801,129 (GRCm39) |
R406S |
probably damaging |
Het |
| Ccl6 |
A |
G |
11: 83,479,658 (GRCm39) |
I115T |
possibly damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,006,926 (GRCm39) |
I607N |
possibly damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,321,822 (GRCm39) |
Y235C |
probably damaging |
Het |
| Clns1a |
A |
G |
7: 97,363,117 (GRCm39) |
Q163R |
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,254,277 (GRCm39) |
M222L |
possibly damaging |
Het |
| Cpn1 |
A |
G |
19: 43,952,208 (GRCm39) |
V358A |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,420,945 (GRCm39) |
R492W |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,311,298 (GRCm39) |
T1808A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,852,410 (GRCm39) |
I1880V |
possibly damaging |
Het |
| Dnai3 |
T |
C |
3: 145,752,298 (GRCm39) |
T793A |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,456,106 (GRCm39) |
E1274G |
possibly damaging |
Het |
| Dtwd1 |
A |
G |
2: 125,996,727 (GRCm39) |
T71A |
probably damaging |
Het |
| Dusp4 |
T |
A |
8: 35,274,938 (GRCm39) |
M19K |
probably benign |
Het |
| Fbxo39 |
T |
C |
11: 72,209,285 (GRCm39) |
F382L |
probably damaging |
Het |
| Fbxw20 |
A |
T |
9: 109,046,596 (GRCm39) |
C455S |
probably benign |
Het |
| Fcmr |
T |
A |
1: 130,803,799 (GRCm39) |
V201E |
probably benign |
Het |
| Galnt2 |
C |
T |
8: 125,061,025 (GRCm39) |
R306* |
probably null |
Het |
| Gpr156 |
A |
G |
16: 37,824,974 (GRCm39) |
E397G |
possibly damaging |
Het |
| Gzmf |
A |
T |
14: 56,443,951 (GRCm39) |
V73D |
probably damaging |
Het |
| Hrob |
A |
G |
11: 102,145,976 (GRCm39) |
N84S |
probably benign |
Het |
| Laptm4b |
T |
C |
15: 34,258,843 (GRCm39) |
V39A |
possibly damaging |
Het |
| Mlf2 |
C |
A |
6: 124,911,259 (GRCm39) |
H91Q |
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,091,460 (GRCm39) |
E115V |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,171,481 (GRCm39) |
E494G |
unknown |
Het |
| Myo7b |
C |
T |
18: 32,114,124 (GRCm39) |
D1076N |
probably benign |
Het |
| Neurl1b |
A |
G |
17: 26,650,887 (GRCm39) |
D53G |
probably damaging |
Het |
| Noc4l |
A |
G |
5: 110,796,758 (GRCm39) |
L508P |
possibly damaging |
Het |
| Nup210l |
C |
A |
3: 90,025,850 (GRCm39) |
F157L |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,305,336 (GRCm39) |
Y959H |
probably damaging |
Het |
| Or13c7d |
T |
G |
4: 43,770,813 (GRCm39) |
N66T |
probably damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,171 (GRCm39) |
M96T |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,404,853 (GRCm39) |
Y4H |
unknown |
Het |
| Rad21 |
A |
G |
15: 51,831,749 (GRCm39) |
I444T |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,787,943 (GRCm39) |
I459V |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,656,129 (GRCm39) |
T917A |
unknown |
Het |
| Sdc4 |
C |
T |
2: 164,270,822 (GRCm39) |
V146I |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,198 (GRCm39) |
S184G |
probably benign |
Het |
| Shkbp1 |
C |
A |
7: 27,051,311 (GRCm39) |
R218S |
possibly damaging |
Het |
| Slc17a3 |
A |
G |
13: 24,039,607 (GRCm39) |
D255G |
|
Het |
| Slc7a2 |
T |
G |
8: 41,352,267 (GRCm39) |
V110G |
probably damaging |
Het |
| Slf1 |
A |
C |
13: 77,194,766 (GRCm39) |
V853G |
probably damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,029,718 (GRCm39) |
V102A |
probably benign |
Het |
| Sobp |
T |
C |
10: 43,036,788 (GRCm39) |
K50R |
probably damaging |
Het |
| Spink10 |
A |
T |
18: 62,786,532 (GRCm39) |
R47S |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,451,206 (GRCm39) |
F2720Y |
probably null |
Het |
| Tdrkh |
T |
A |
3: 94,336,440 (GRCm39) |
V459D |
probably damaging |
Het |
| Tent5a |
A |
G |
9: 85,208,803 (GRCm39) |
Y7H |
probably benign |
Het |
| Tlcd2 |
T |
A |
11: 75,360,630 (GRCm39) |
D224E |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,230,304 (GRCm39) |
Q87L |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,838,186 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
G |
A |
1: 180,789,961 (GRCm39) |
G378R |
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,219,892 (GRCm39) |
Q2210K |
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,934,435 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,050,675 (GRCm39) |
I238N |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,153,548 (GRCm39) |
D675E |
probably benign |
Het |
| Zfp229 |
T |
A |
17: 21,964,795 (GRCm39) |
C342S |
probably damaging |
Het |
| Zfp759 |
A |
G |
13: 67,288,417 (GRCm39) |
H656R |
probably damaging |
Het |
| Zfp994 |
T |
C |
17: 22,419,980 (GRCm39) |
Y323C |
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 |
|
|
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 |
|
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'- GTTTCAAATCCAGCTAGCGCC -3'
(R):5'- ATACGTGCTGGCCTGTTCATC -3'
Sequencing Primer
(F):5'- CCTGCCAGTCAAGGTTAAAGCTG -3'
(R):5'- TCCCAGGTCACCTCTGAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation