Incidental Mutation 'R3768:Pik3c3'
ID |
273144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3c3
|
Ensembl Gene |
ENSMUSG00000033628 |
Gene Name |
phosphatidylinositol 3-kinase catalytic subunit type 3 |
Synonyms |
5330434F23Rik, Vps34 |
MMRRC Submission |
040745-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3768 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
30405800-30481179 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30466326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 792
(S792R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089601
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091978]
[ENSMUST00000115811]
[ENSMUST00000115812]
[ENSMUST00000131405]
|
AlphaFold |
Q6PF93 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091978
AA Change: S792R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089601 Gene: ENSMUSG00000033628 AA Change: S792R
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
|
SMART Domains |
Protein: ENSMUSP00000111478 Gene: ENSMUSG00000033628
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 damaging
Transcript: ENSMUST00000115812
AA Change: S792R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111479 Gene: ENSMUSG00000033628 AA Change: S792R
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
|
SMART Domains |
Protein: ENSMUSP00000128927 Gene: ENSMUSG00000033628
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
C |
11: 110,204,217 (GRCm39) |
R353G |
probably benign |
Het |
Ank1 |
A |
G |
8: 23,606,202 (GRCm39) |
D1153G |
possibly damaging |
Het |
Ankrd12 |
T |
C |
17: 66,292,715 (GRCm39) |
Y906C |
probably benign |
Het |
Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,113,893 (GRCm39) |
K160R |
probably damaging |
Het |
Atp8a2 |
T |
A |
14: 60,281,785 (GRCm39) |
H142L |
probably benign |
Het |
B3gnt2 |
T |
C |
11: 22,786,765 (GRCm39) |
K141R |
probably damaging |
Het |
Btbd7 |
G |
A |
12: 102,761,451 (GRCm39) |
P578L |
probably damaging |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cmya5 |
A |
T |
13: 93,233,201 (GRCm39) |
I629K |
possibly damaging |
Het |
Cnga4 |
A |
G |
7: 105,056,887 (GRCm39) |
N330S |
probably damaging |
Het |
Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
Cxcl15 |
A |
C |
5: 90,949,303 (GRCm39) |
D156A |
unknown |
Het |
D630045J12Rik |
A |
G |
6: 38,119,844 (GRCm39) |
S1633P |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,510,085 (GRCm39) |
N1581I |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
Dscaml1 |
T |
A |
9: 45,643,435 (GRCm39) |
F1285I |
possibly damaging |
Het |
Fgf10 |
G |
T |
13: 118,918,083 (GRCm39) |
V124F |
probably damaging |
Het |
Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
Kctd19 |
T |
C |
8: 106,123,112 (GRCm39) |
T101A |
probably benign |
Het |
Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,335,449 (GRCm39) |
D1425N |
probably benign |
Het |
Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
Ncor2 |
A |
G |
5: 125,105,751 (GRCm39) |
V1613A |
probably damaging |
Het |
Nlgn2 |
C |
T |
11: 69,719,230 (GRCm39) |
V207I |
possibly damaging |
Het |
Or10v1 |
G |
A |
19: 11,873,676 (GRCm39) |
G97D |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
Or2y14 |
T |
C |
11: 49,404,600 (GRCm39) |
I45T |
probably damaging |
Het |
Or4d10c |
A |
G |
19: 12,065,304 (GRCm39) |
I284T |
probably damaging |
Het |
Osbpl3 |
G |
A |
6: 50,324,982 (GRCm39) |
P172L |
possibly damaging |
Het |
Pabpc4 |
T |
A |
4: 123,188,405 (GRCm39) |
V338D |
probably damaging |
Het |
Pdia6 |
T |
C |
12: 17,320,457 (GRCm39) |
V32A |
probably damaging |
Het |
Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sap25 |
T |
A |
5: 137,640,632 (GRCm39) |
F171I |
probably damaging |
Het |
Serpinb11 |
T |
C |
1: 107,305,392 (GRCm39) |
|
probably null |
Het |
Tarm1 |
A |
T |
7: 3,546,097 (GRCm39) |
S69T |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Usp36 |
T |
C |
11: 118,153,878 (GRCm39) |
K846R |
probably damaging |
Het |
Zfp229 |
A |
T |
17: 21,964,844 (GRCm39) |
H358L |
probably damaging |
Het |
Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
probably benign |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTTGCAGTGCTAACGAC -3'
(R):5'- TGGTTTGCCAAATCTCCCAC -3'
Sequencing Primer
(F):5'- AACGACTGTGAGACTGACTGAGTTTC -3'
(R):5'- CAGCATCTCAACTGGGAGGTTAC -3'
|
Posted On |
2015-03-25 |