Incidental Mutation 'IGL03221:Pik3c3'
ID 413647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pik3c3
Ensembl Gene ENSMUSG00000033628
Gene Name phosphatidylinositol 3-kinase catalytic subunit type 3
Synonyms 5330434F23Rik, Vps34
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03221
Quality Score
Status
Chromosome 18
Chromosomal Location 30405800-30481179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30435984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 394 (M394I)
Ref Sequence ENSEMBL: ENSMUSP00000111478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091978] [ENSMUST00000115811] [ENSMUST00000115812] [ENSMUST00000131405]
AlphaFold Q6PF93
Predicted Effect probably benign
Transcript: ENSMUST00000091978
AA Change: M394I

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000089601
Gene: ENSMUSG00000033628
AA Change: M394I

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 benign
Transcript: ENSMUST00000115811
AA Change: M394I

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000111478
Gene: ENSMUSG00000033628
AA Change: M394I

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 benign
Transcript: ENSMUST00000115812
AA Change: M394I

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000111479
Gene: ENSMUSG00000033628
AA Change: M394I

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 benign
Transcript: ENSMUST00000131405
AA Change: M394I

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128927
Gene: ENSMUSG00000033628
AA Change: M394I

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
Atp2b2 C T 6: 113,737,820 (GRCm39) probably benign Het
BC051665 T A 13: 60,932,242 (GRCm39) K116* probably null Het
Birc6 A T 17: 74,934,002 (GRCm39) T2538S probably benign Het
Btn2a2 A G 13: 23,662,619 (GRCm39) S435P probably damaging Het
Efhb A G 17: 53,706,014 (GRCm39) L841P probably damaging Het
Etv4 C T 11: 101,664,988 (GRCm39) R155K probably damaging Het
Fnbp4 T A 2: 90,608,062 (GRCm39) M928K possibly damaging Het
Grin2c A G 11: 115,144,870 (GRCm39) probably benign Het
Grip1 A T 10: 119,822,299 (GRCm39) M342L probably benign Het
H60c T A 10: 3,209,799 (GRCm39) K163* probably null Het
Hycc2 C A 1: 58,579,345 (GRCm39) V231L probably benign Het
Lilrb4b A G 10: 51,357,524 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mast4 A G 13: 102,890,764 (GRCm39) V838A possibly damaging Het
Mypn C A 10: 62,966,902 (GRCm39) D925Y probably damaging Het
Nol6 T C 4: 41,124,166 (GRCm39) D27G probably benign Het
Or4c105 T C 2: 88,647,781 (GRCm39) S89P possibly damaging Het
Or5b97 G T 19: 12,878,905 (GRCm39) P80T probably damaging Het
Or8b51 A T 9: 38,569,661 (GRCm39) V9E probably damaging Het
Pik3c2g A G 6: 139,718,133 (GRCm39) probably null Het
Rfx7 C T 9: 72,526,088 (GRCm39) R1093C probably damaging Het
Scin A G 12: 40,126,973 (GRCm39) V458A probably benign Het
Slc34a1 T C 13: 55,548,591 (GRCm39) V39A probably benign Het
Slc6a4 A G 11: 76,917,931 (GRCm39) M558V probably benign Het
Smpx T C X: 156,503,994 (GRCm39) V65A probably damaging Het
Tmem200a A T 10: 25,869,922 (GRCm39) F116I possibly damaging Het
Tnfrsf19 A T 14: 61,262,227 (GRCm39) V12E probably benign Het
Trpc1 C T 9: 95,588,953 (GRCm39) R757H probably damaging Het
Ttc38 T A 15: 85,718,742 (GRCm39) S51T probably benign Het
Wee1 G A 7: 109,726,024 (GRCm39) C378Y probably damaging Het
Other mutations in Pik3c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Pik3c3 APN 18 30,436,131 (GRCm39) splice site probably benign
IGL00743:Pik3c3 APN 18 30,407,417 (GRCm39) missense probably damaging 1.00
IGL01622:Pik3c3 APN 18 30,426,102 (GRCm39) splice site probably benign
IGL01622:Pik3c3 APN 18 30,423,578 (GRCm39) nonsense probably null
IGL01623:Pik3c3 APN 18 30,426,102 (GRCm39) splice site probably benign
IGL01623:Pik3c3 APN 18 30,423,578 (GRCm39) nonsense probably null
IGL01773:Pik3c3 APN 18 30,410,155 (GRCm39) missense probably damaging 1.00
IGL01917:Pik3c3 APN 18 30,407,499 (GRCm39) missense probably damaging 1.00
IGL02033:Pik3c3 APN 18 30,445,703 (GRCm39) missense possibly damaging 0.85
IGL02465:Pik3c3 APN 18 30,477,113 (GRCm39) missense probably damaging 0.97
IGL03161:Pik3c3 APN 18 30,426,760 (GRCm39) missense probably benign 0.37
H8786:Pik3c3 UTSW 18 30,427,396 (GRCm39) missense probably damaging 0.99
R0089:Pik3c3 UTSW 18 30,436,131 (GRCm39) splice site probably benign
R1512:Pik3c3 UTSW 18 30,455,289 (GRCm39) critical splice donor site probably null
R1713:Pik3c3 UTSW 18 30,456,639 (GRCm39) missense possibly damaging 0.73
R1758:Pik3c3 UTSW 18 30,410,063 (GRCm39) missense probably damaging 1.00
R1822:Pik3c3 UTSW 18 30,477,130 (GRCm39) critical splice donor site probably null
R1870:Pik3c3 UTSW 18 30,426,185 (GRCm39) critical splice donor site probably null
R2680:Pik3c3 UTSW 18 30,477,131 (GRCm39) critical splice donor site probably null
R3768:Pik3c3 UTSW 18 30,466,326 (GRCm39) missense probably damaging 1.00
R3926:Pik3c3 UTSW 18 30,444,382 (GRCm39) splice site probably benign
R4154:Pik3c3 UTSW 18 30,444,336 (GRCm39) missense probably benign 0.35
R4293:Pik3c3 UTSW 18 30,477,043 (GRCm39) missense probably damaging 1.00
R4570:Pik3c3 UTSW 18 30,423,603 (GRCm39) missense possibly damaging 0.94
R4858:Pik3c3 UTSW 18 30,477,131 (GRCm39) critical splice donor site probably null
R4893:Pik3c3 UTSW 18 30,415,053 (GRCm39) missense probably benign 0.16
R4901:Pik3c3 UTSW 18 30,435,982 (GRCm39) missense possibly damaging 0.65
R5216:Pik3c3 UTSW 18 30,406,029 (GRCm39) missense probably damaging 1.00
R5358:Pik3c3 UTSW 18 30,456,597 (GRCm39) missense probably damaging 1.00
R5373:Pik3c3 UTSW 18 30,445,614 (GRCm39) missense probably benign 0.40
R5374:Pik3c3 UTSW 18 30,445,614 (GRCm39) missense probably benign 0.40
R5600:Pik3c3 UTSW 18 30,444,346 (GRCm39) missense probably damaging 1.00
R5680:Pik3c3 UTSW 18 30,410,166 (GRCm39) nonsense probably null
R5965:Pik3c3 UTSW 18 30,431,633 (GRCm39) missense probably damaging 1.00
R6492:Pik3c3 UTSW 18 30,457,615 (GRCm39) missense probably damaging 1.00
R6576:Pik3c3 UTSW 18 30,475,794 (GRCm39) intron probably benign
R6700:Pik3c3 UTSW 18 30,449,954 (GRCm39) missense probably benign 0.02
R7523:Pik3c3 UTSW 18 30,426,708 (GRCm39) missense probably damaging 1.00
R7883:Pik3c3 UTSW 18 30,407,416 (GRCm39) missense probably benign 0.04
R7884:Pik3c3 UTSW 18 30,445,624 (GRCm39) missense probably benign 0.00
R7886:Pik3c3 UTSW 18 30,452,641 (GRCm39) nonsense probably null
R8075:Pik3c3 UTSW 18 30,438,082 (GRCm39) missense probably damaging 0.99
R9163:Pik3c3 UTSW 18 30,427,483 (GRCm39) critical splice donor site probably null
R9246:Pik3c3 UTSW 18 30,466,364 (GRCm39) missense probably damaging 1.00
R9311:Pik3c3 UTSW 18 30,445,666 (GRCm39) missense probably benign 0.11
Posted On 2016-08-02