Incidental Mutation 'R6015:Pik3ap1'
ID |
478584 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3ap1
|
Ensembl Gene |
ENSMUSG00000025017 |
Gene Name |
phosphoinositide-3-kinase adaptor protein 1 |
Synonyms |
BCAP, 1810044J04Rik |
MMRRC Submission |
043254-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6015 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
41260980-41373541 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 41316640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 250
(Y250F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059672]
|
AlphaFold |
Q9EQ32 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059672
AA Change: Y250F
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000052777 Gene: ENSMUSG00000025017 AA Change: Y250F
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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano5 |
A |
C |
7: 51,224,525 (GRCm39) |
S480R |
probably benign |
Het |
Aqr |
A |
G |
2: 114,005,646 (GRCm39) |
M1T |
probably null |
Het |
Arhgef28 |
A |
G |
13: 98,211,530 (GRCm39) |
V151A |
possibly damaging |
Het |
Atp6v1b2 |
T |
A |
8: 69,555,148 (GRCm39) |
I170N |
probably damaging |
Het |
Atxn2 |
T |
A |
5: 121,949,055 (GRCm39) |
V817D |
probably damaging |
Het |
Cdh23 |
A |
C |
10: 60,143,761 (GRCm39) |
I2950S |
probably damaging |
Het |
Ces1h |
A |
G |
8: 94,083,691 (GRCm39) |
L417P |
unknown |
Het |
Cimap3 |
T |
C |
3: 105,906,937 (GRCm39) |
D154G |
possibly damaging |
Het |
Csf1r |
A |
G |
18: 61,242,784 (GRCm39) |
E49G |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fat3 |
A |
G |
9: 16,287,346 (GRCm39) |
S726P |
possibly damaging |
Het |
Grik2 |
A |
T |
10: 49,399,959 (GRCm39) |
|
probably null |
Het |
Il9r |
A |
G |
11: 32,142,674 (GRCm39) |
V287A |
probably benign |
Het |
Inpp5b |
T |
C |
4: 124,692,143 (GRCm39) |
C909R |
possibly damaging |
Het |
Kat7 |
G |
A |
11: 95,174,860 (GRCm39) |
H384Y |
probably damaging |
Het |
Lama5 |
A |
G |
2: 179,827,185 (GRCm39) |
S2272P |
probably benign |
Het |
Megf10 |
A |
G |
18: 57,386,100 (GRCm39) |
H371R |
probably benign |
Het |
Moxd2 |
A |
T |
6: 40,860,688 (GRCm39) |
Y310N |
probably damaging |
Het |
Ntrk2 |
A |
T |
13: 59,208,209 (GRCm39) |
E685V |
probably damaging |
Het |
Ogfr |
G |
T |
2: 180,236,467 (GRCm39) |
G351W |
probably damaging |
Het |
Or52ac1 |
G |
T |
7: 104,245,915 (GRCm39) |
P158T |
probably damaging |
Het |
Parp3 |
C |
T |
9: 106,351,481 (GRCm39) |
V207M |
possibly damaging |
Het |
Pfkfb3 |
T |
C |
2: 11,486,146 (GRCm39) |
|
probably null |
Het |
Pigr |
T |
C |
1: 130,774,998 (GRCm39) |
V475A |
probably benign |
Het |
Ppp1r3c |
A |
T |
19: 36,711,206 (GRCm39) |
I188N |
probably damaging |
Het |
Prmt7 |
T |
G |
8: 106,961,640 (GRCm39) |
|
probably benign |
Het |
Psapl1 |
T |
C |
5: 36,361,594 (GRCm39) |
V62A |
probably benign |
Het |
Relch |
T |
C |
1: 105,619,683 (GRCm39) |
L280S |
probably damaging |
Het |
Rpp14 |
G |
A |
14: 8,090,462 (GRCm38) |
V129I |
probably benign |
Het |
Sema4f |
A |
G |
6: 82,916,553 (GRCm39) |
|
probably benign |
Het |
Serpinb13 |
C |
A |
1: 106,928,337 (GRCm39) |
A319E |
probably benign |
Het |
Sez6l2 |
A |
T |
7: 126,552,625 (GRCm39) |
S134C |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,059,046 (GRCm39) |
H184Q |
probably benign |
Het |
Slc9a9 |
G |
T |
9: 94,821,602 (GRCm39) |
A330S |
probably benign |
Het |
Sord |
T |
C |
2: 122,087,424 (GRCm39) |
V176A |
probably damaging |
Het |
Ssbp2 |
G |
T |
13: 91,817,862 (GRCm39) |
|
probably null |
Het |
Stab2 |
G |
T |
10: 86,773,906 (GRCm39) |
N808K |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,296,819 (GRCm39) |
|
probably null |
Het |
Tpcn2 |
A |
G |
7: 144,820,588 (GRCm39) |
V341A |
probably damaging |
Het |
Unc13b |
C |
A |
4: 43,177,995 (GRCm39) |
S2941* |
probably null |
Het |
Utrn |
T |
A |
10: 12,354,168 (GRCm39) |
H2806L |
possibly damaging |
Het |
Vmn1r40 |
C |
A |
6: 89,691,588 (GRCm39) |
A135D |
probably damaging |
Het |
Vmn1r68 |
C |
T |
7: 10,261,616 (GRCm39) |
V161M |
probably benign |
Het |
Wiz |
T |
A |
17: 32,606,574 (GRCm39) |
I54F |
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 |
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'- TTCAAATCCAGCTAGCGCC -3'
(R):5'- ATACGTGCTGGCCTGTTCATC -3'
Sequencing Primer
(F):5'- CCTGCCAGTCAAGGTTAAAGCTG -3'
(R):5'- GTTCATCTCCTCCCAGGTCAC -3'
|
Posted On |
2017-06-26 |