Incidental Mutation 'IGL02601:Pik3ap1'
ID 300083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3ap1
Ensembl Gene ENSMUSG00000025017
Gene Name phosphoinositide-3-kinase adaptor protein 1
Synonyms BCAP, 1810044J04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02601
Quality Score
Status
Chromosome 19
Chromosomal Location 41260980-41373541 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 41290881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 550 (N550K)
Ref Sequence ENSEMBL: ENSMUSP00000052777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059672]
AlphaFold Q9EQ32
Predicted Effect probably benign
Transcript: ENSMUST00000059672
AA Change: N550K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000052777
Gene: ENSMUSG00000025017
AA Change: N550K

DomainStartEndE-ValueType
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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,293,541 (GRCm39) V57M probably damaging Het
Agap3 A G 5: 24,688,369 (GRCm39) K23E possibly damaging Het
Anln A T 9: 22,249,331 (GRCm39) I132K probably damaging Het
Anxa4 T C 6: 86,737,683 (GRCm39) T13A probably benign Het
Bdp1 A T 13: 100,235,022 (GRCm39) Y191N possibly damaging Het
Carm1 G A 9: 21,498,204 (GRCm39) V403M probably damaging Het
Cbx7 A G 15: 79,807,671 (GRCm39) probably null Het
Chd8 A C 14: 52,451,757 (GRCm39) N16K possibly damaging Het
Crtc3 A T 7: 80,242,315 (GRCm39) D499E probably damaging Het
Cul3 A G 1: 80,249,432 (GRCm39) probably benign Het
D430041D05Rik T C 2: 104,060,631 (GRCm39) D1421G probably damaging Het
Fgb T A 3: 82,952,367 (GRCm39) E167D probably benign Het
Gimap6 T A 6: 48,679,409 (GRCm39) Q209L probably damaging Het
Gm3604 G A 13: 62,517,990 (GRCm39) H123Y possibly damaging Het
Gm5884 A T 6: 128,622,749 (GRCm39) noncoding transcript Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Obox3 T C 7: 15,360,848 (GRCm39) E97G probably damaging Het
Obsl1 T C 1: 75,466,264 (GRCm39) H1488R probably benign Het
Or4e1 A T 14: 52,700,802 (GRCm39) Y221* probably null Het
Or6c75 A G 10: 129,337,723 (GRCm39) *323W probably null Het
Pak5 T A 2: 135,958,855 (GRCm39) K78* probably null Het
Paqr9 A G 9: 95,442,877 (GRCm39) N289S probably damaging Het
Pde3b G A 7: 114,122,577 (GRCm39) R715H probably damaging Het
Pglyrp2 T C 17: 32,634,835 (GRCm39) H509R probably benign Het
Pon3 A G 6: 5,221,671 (GRCm39) Y320H probably damaging Het
Ptprt T A 2: 161,608,227 (GRCm39) T690S probably benign Het
Ptprz1 T A 6: 23,000,686 (GRCm39) D925E probably benign Het
Rag1 T C 2: 101,473,018 (GRCm39) D708G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rbmy1b A G Y: 3,774,885 (GRCm39) I27M probably benign Het
Rfx2 G A 17: 57,092,354 (GRCm39) H315Y possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sis T C 3: 72,820,543 (GRCm39) N1407S probably benign Het
Slco1c1 T A 6: 141,490,555 (GRCm39) L261Q probably damaging Het
Sox30 T G 11: 45,875,589 (GRCm39) L447R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssu72 A G 4: 155,789,882 (GRCm39) N15S possibly damaging Het
Stat4 C T 1: 52,137,574 (GRCm39) S455F probably damaging Het
Stk4 T A 2: 163,928,462 (GRCm39) L97Q probably damaging Het
Sulf1 A T 1: 12,856,869 (GRCm39) N40I probably damaging Het
Sympk G A 7: 18,782,794 (GRCm39) V877I probably benign Het
Taar7b A T 10: 23,876,204 (GRCm39) H123L probably damaging Het
Teddm1b A G 1: 153,750,362 (GRCm39) Y57C probably damaging Het
Tep1 A T 14: 51,070,935 (GRCm39) C2121* probably null Het
Tnfsf11 T A 14: 78,537,385 (GRCm39) R93* probably null Het
Tspan12 A C 6: 21,835,378 (GRCm39) probably benign Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Vps4a T C 8: 107,769,693 (GRCm39) I334T probably damaging Het
Zfhx3 T C 8: 109,583,462 (GRCm39) S1110P probably damaging Het
Zfp507 A G 7: 35,491,136 (GRCm39) S716P probably damaging Het
Other mutations in Pik3ap1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16