Incidental Mutation 'IGL01773:Pik3c3'
ID153716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3c3
Ensembl Gene ENSMUSG00000033628
Gene Namephosphatidylinositol 3-kinase catalytic subunit type 3
Synonyms5330434F23Rik, Vps34
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01773
Quality Score
Status
Chromosome18
Chromosomal Location30272747-30348126 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30277102 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 130 (F130I)
Ref Sequence ENSEMBL: ENSMUSP00000128927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091978] [ENSMUST00000115811] [ENSMUST00000115812] [ENSMUST00000131405]
Predicted Effect probably damaging
Transcript: ENSMUST00000091978
AA Change: F130I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089601
Gene: ENSMUSG00000033628
AA Change: F130I

DomainStartEndE-ValueType
C2 20 141 4.44e0 SMART
PI3K_C2 21 130 1.43e-42 SMART
PI3Ka 283 530 3.08e-111 SMART
PI3Kc 632 848 1.02e-84 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115811
AA Change: F130I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111478
Gene: ENSMUSG00000033628
AA Change: F130I

DomainStartEndE-ValueType
C2 20 141 4.44e0 SMART
PI3K_C2 21 130 1.43e-42 SMART
PI3Ka 283 530 3.08e-111 SMART
PI3Kc 632 756 5.33e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115812
AA Change: F130I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111479
Gene: ENSMUSG00000033628
AA Change: F130I

DomainStartEndE-ValueType
C2 20 141 4.44e0 SMART
PI3K_C2 21 130 1.43e-42 SMART
PI3Ka 283 530 3.08e-111 SMART
PI3Kc 632 884 1.21e-118 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131405
AA Change: F130I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128927
Gene: ENSMUSG00000033628
AA Change: F130I

DomainStartEndE-ValueType
C2 20 141 4.44e0 SMART
PI3K_C2 21 130 1.43e-42 SMART
PI3Ka 283 506 1.78e-84 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele display embryonic lethality between implantation and placentation, arrest prior to gastrulation, and show reduced cell proliferation. Mice homozygous for a conditional allele activated in T cells exhibit impaired naive Tcell homeostasis and mitophagy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1s C A 1: 136,118,753 H1775Q probably benign Het
Calcrl A G 2: 84,370,443 Y86H probably benign Het
Ccdc63 T C 5: 122,113,145 K401E possibly damaging Het
Col9a1 A G 1: 24,205,066 T127A probably benign Het
Cpq T A 15: 33,212,850 F5Y probably benign Het
Cuzd1 T A 7: 131,314,885 M282L probably damaging Het
Ddx10 C A 9: 53,204,130 D635Y possibly damaging Het
Ect2l T C 10: 18,161,504 D382G probably damaging Het
Ganc T C 2: 120,459,884 S901P possibly damaging Het
Gpr179 G A 11: 97,341,366 R671C probably benign Het
Isl2 T C 9: 55,544,220 L219P probably damaging Het
Mfsd13a T C 19: 46,369,294 S296P possibly damaging Het
Mtmr7 A T 8: 40,581,419 L287Q probably damaging Het
Olfr1355 A G 10: 78,879,936 T255A possibly damaging Het
Olfr607 T G 7: 103,461,014 M60L possibly damaging Het
Olfr741 T C 14: 50,485,773 F105S probably damaging Het
Olfr945 A G 9: 39,258,534 I46T probably damaging Het
Rab3gap1 T A 1: 127,918,221 S277R possibly damaging Het
Rassf9 A G 10: 102,545,633 K290R probably benign Het
Rnaseh2a A T 8: 84,965,138 V136D probably damaging Het
Rnf39 C T 17: 36,945,436 S140L possibly damaging Het
Sbno2 A G 10: 80,057,831 V1212A probably damaging Het
Slc4a10 A T 2: 62,190,757 I50F probably damaging Het
Slfn5 A T 11: 82,961,331 E761V probably damaging Het
Sptlc1 A G 13: 53,377,298 Y18H probably damaging Het
Tfam A G 10: 71,236,975 M9T possibly damaging Het
Tmem186 A G 16: 8,635,977 L140P probably damaging Het
Try4 A T 6: 41,305,026 N182I probably damaging Het
Vmn1r209 C T 13: 22,806,280 C80Y probably damaging Het
Vmn2r104 A T 17: 20,040,668 S498T probably benign Het
Other mutations in Pik3c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Pik3c3 APN 18 30303078 splice site probably benign
IGL00743:Pik3c3 APN 18 30274364 missense probably damaging 1.00
IGL01622:Pik3c3 APN 18 30290525 nonsense probably null
IGL01622:Pik3c3 APN 18 30293049 splice site probably benign
IGL01623:Pik3c3 APN 18 30290525 nonsense probably null
IGL01623:Pik3c3 APN 18 30293049 splice site probably benign
IGL01917:Pik3c3 APN 18 30274446 missense probably damaging 1.00
IGL02033:Pik3c3 APN 18 30312650 missense possibly damaging 0.85
IGL02465:Pik3c3 APN 18 30344060 missense probably damaging 0.97
IGL03161:Pik3c3 APN 18 30293707 missense probably benign 0.37
IGL03221:Pik3c3 APN 18 30302931 missense probably benign 0.45
H8786:Pik3c3 UTSW 18 30294343 missense probably damaging 0.99
R0089:Pik3c3 UTSW 18 30303078 splice site probably benign
R1512:Pik3c3 UTSW 18 30322236 critical splice donor site probably null
R1713:Pik3c3 UTSW 18 30323586 missense possibly damaging 0.73
R1758:Pik3c3 UTSW 18 30277010 missense probably damaging 1.00
R1822:Pik3c3 UTSW 18 30344077 critical splice donor site probably null
R1870:Pik3c3 UTSW 18 30293132 critical splice donor site probably null
R2680:Pik3c3 UTSW 18 30344078 critical splice donor site probably null
R3768:Pik3c3 UTSW 18 30333273 missense probably damaging 1.00
R3926:Pik3c3 UTSW 18 30311329 splice site probably benign
R4154:Pik3c3 UTSW 18 30311283 missense probably benign 0.35
R4293:Pik3c3 UTSW 18 30343990 missense probably damaging 1.00
R4570:Pik3c3 UTSW 18 30290550 missense possibly damaging 0.94
R4858:Pik3c3 UTSW 18 30344078 critical splice donor site probably null
R4893:Pik3c3 UTSW 18 30282000 missense probably benign 0.16
R4901:Pik3c3 UTSW 18 30302929 missense possibly damaging 0.65
R5216:Pik3c3 UTSW 18 30272976 missense probably damaging 1.00
R5358:Pik3c3 UTSW 18 30323544 missense probably damaging 1.00
R5373:Pik3c3 UTSW 18 30312561 missense probably benign 0.40
R5374:Pik3c3 UTSW 18 30312561 missense probably benign 0.40
R5600:Pik3c3 UTSW 18 30311293 missense probably damaging 1.00
R5680:Pik3c3 UTSW 18 30277113 nonsense probably null
R5965:Pik3c3 UTSW 18 30298580 missense probably damaging 1.00
R6492:Pik3c3 UTSW 18 30324562 missense probably damaging 1.00
R6576:Pik3c3 UTSW 18 30342741 intron probably benign
R6700:Pik3c3 UTSW 18 30316901 missense probably benign 0.02
R7523:Pik3c3 UTSW 18 30293655 missense probably damaging 1.00
R7883:Pik3c3 UTSW 18 30274363 missense probably benign 0.04
R7884:Pik3c3 UTSW 18 30312571 missense probably benign 0.00
R7886:Pik3c3 UTSW 18 30319588 nonsense probably null
R7966:Pik3c3 UTSW 18 30274363 missense probably benign 0.04
R7967:Pik3c3 UTSW 18 30312571 missense probably benign 0.00
R7969:Pik3c3 UTSW 18 30319588 nonsense probably null
R8075:Pik3c3 UTSW 18 30305029 missense probably damaging 0.99
Posted On2014-02-04