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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |