Incidental Mutation 'IGL01622:Pik3c3'
ID 278641
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 # IGL01622
Quality Score
Status
Chromosome 18
Chromosomal Location 30405800-30481179 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 30423578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 225 (K225*)
Ref Sequence ENSEMBL: ENSMUSP00000128927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091978] [ENSMUST00000115811] [ENSMUST00000115812] [ENSMUST00000131405]
AlphaFold Q6PF93
Predicted Effect probably null
Transcript: ENSMUST00000091978
AA Change: K225*
SMART Domains Protein: ENSMUSP00000089601
Gene: ENSMUSG00000033628
AA Change: K225*

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 null
Transcript: ENSMUST00000115811
AA Change: K225*
SMART Domains Protein: ENSMUSP00000111478
Gene: ENSMUSG00000033628
AA Change: K225*

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 null
Transcript: ENSMUST00000115812
AA Change: K225*
SMART Domains Protein: ENSMUSP00000111479
Gene: ENSMUSG00000033628
AA Change: K225*

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 null
Transcript: ENSMUST00000131405
AA Change: K225*
SMART Domains Protein: ENSMUSP00000128927
Gene: ENSMUSG00000033628
AA Change: K225*

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,532,024 (GRCm39) Q184* probably null Het
A1bg A C 15: 60,789,742 (GRCm39) I502S possibly damaging Het
Actl11 T C 9: 107,805,775 (GRCm39) S33P probably benign Het
Aftph G T 11: 20,659,632 (GRCm39) D730E probably damaging Het
Arhgap29 A G 3: 121,767,773 (GRCm39) probably benign Het
Brf1 T G 12: 112,924,795 (GRCm39) E643A probably benign Het
Caskin1 G T 17: 24,722,914 (GRCm39) probably null Het
Ccnjl T C 11: 43,476,154 (GRCm39) V259A probably benign Het
Ccser2 G T 14: 36,662,920 (GRCm39) T88K probably benign Het
Cdk17 T C 10: 93,074,824 (GRCm39) probably benign Het
Clec16a G A 16: 10,395,774 (GRCm39) S309N possibly damaging Het
Cpxm1 C A 2: 130,233,191 (GRCm39) A633S probably benign Het
Ctnnbl1 A T 2: 157,661,468 (GRCm39) N326I probably damaging Het
Cyp46a1 T C 12: 108,318,234 (GRCm39) V215A possibly damaging Het
Daxx A G 17: 34,132,454 (GRCm39) D528G probably benign Het
Dnah6 T C 6: 73,121,701 (GRCm39) Y1427C probably damaging Het
Dpy19l3 G A 7: 35,422,169 (GRCm39) T228I probably damaging Het
Fam131c C T 4: 141,109,761 (GRCm39) A131V possibly damaging Het
Fat1 A G 8: 45,482,592 (GRCm39) T3061A possibly damaging Het
Fgl2 T A 5: 21,578,175 (GRCm39) L154H possibly damaging Het
Fhod3 T A 18: 25,155,924 (GRCm39) I514K probably benign Het
Ficd G A 5: 113,876,622 (GRCm39) G266S probably damaging Het
Frem3 A G 8: 81,340,544 (GRCm39) T946A probably benign Het
Gan T A 8: 117,913,917 (GRCm39) V105D probably damaging Het
Garin5b A G 7: 4,761,722 (GRCm39) V330A probably benign Het
Gramd1c A G 16: 43,811,061 (GRCm39) V221A probably damaging Het
Hacd1 A G 2: 14,040,667 (GRCm39) V196A probably benign Het
Kcna6 C A 6: 126,715,576 (GRCm39) V438L probably damaging Het
Kif14 T C 1: 136,425,094 (GRCm39) probably benign Het
Klhl41 T C 2: 69,508,582 (GRCm39) V512A probably benign Het
Lrfn1 A G 7: 28,166,111 (GRCm39) T502A probably damaging Het
Notch3 A T 17: 32,377,844 (GRCm39) F105I possibly damaging Het
Or4b13 T G 2: 90,082,953 (GRCm39) K126N probably damaging Het
Or5m10 A T 2: 85,717,306 (GRCm39) H54L probably benign Het
P3h1 C T 4: 119,092,480 (GRCm39) T171I probably damaging Het
Pcdhb1 A G 18: 37,399,366 (GRCm39) E439G possibly damaging Het
Pik3r5 T A 11: 68,377,452 (GRCm39) probably null Het
Pnpt1 A C 11: 29,098,272 (GRCm39) probably benign Het
Ppp2r1b T A 9: 50,789,422 (GRCm39) V495D probably damaging Het
Rbfox3 C A 11: 118,396,440 (GRCm39) probably benign Het
Sec14l2 G A 11: 4,053,966 (GRCm39) P234S possibly damaging Het
Sec16a A C 2: 26,328,915 (GRCm39) D1033E probably benign Het
Septin14 A G 5: 129,763,019 (GRCm39) V357A probably damaging Het
Sf3a3 C T 4: 124,612,136 (GRCm39) T131I possibly damaging Het
Snrpa A T 7: 26,892,395 (GRCm39) M55K probably benign Het
Swt1 G T 1: 151,286,760 (GRCm39) T244N probably benign Het
Tbl1xr1 A G 3: 22,246,238 (GRCm39) T253A probably benign Het
Tst G T 15: 78,283,964 (GRCm39) R288S probably benign Het
Vmn2r60 A G 7: 41,785,910 (GRCm39) I238V probably benign Het
Zbtb14 A G 17: 69,695,184 (GRCm39) K294R probably benign Het
Zfp710 T A 7: 79,730,871 (GRCm39) V16E probably damaging Het
Zfpm2 A G 15: 40,965,320 (GRCm39) T602A probably benign Het
Zfr2 G A 10: 81,087,193 (GRCm39) M850I probably benign 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
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
IGL03221:Pik3c3 APN 18 30,435,984 (GRCm39) missense probably benign 0.45
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 2015-04-16