Incidental Mutation 'IGL00585:Pik3c3'
| ID |
3373 |
| 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 # |
IGL00585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
30405800-30481179 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 30436131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091978]
[ENSMUST00000115811]
[ENSMUST00000115812]
[ENSMUST00000131405]
|
| AlphaFold |
Q6PF93 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091978
|
| SMART Domains |
Protein: ENSMUSP00000089601
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 |
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 benign
Transcript: ENSMUST00000115812
|
| SMART Domains |
Protein: ENSMUSP00000111479
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 |
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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
A |
17: 24,519,294 (GRCm39) |
I664F |
probably damaging |
Het |
| Abcg4 |
A |
T |
9: 44,192,920 (GRCm39) |
M142K |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,104,890 (GRCm39) |
T1198A |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,136,239 (GRCm39) |
S475P |
probably damaging |
Het |
| Ap3s2 |
T |
C |
7: 79,565,824 (GRCm39) |
E34G |
probably benign |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,442 (GRCm39) |
F324S |
probably damaging |
Het |
| Cacng7 |
A |
G |
7: 3,414,547 (GRCm39) |
Y170C |
probably damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,286,435 (GRCm39) |
V103M |
possibly damaging |
Het |
| Chrnb1 |
G |
A |
11: 69,684,742 (GRCm39) |
P144S |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,066,751 (GRCm39) |
H652R |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,450,170 (GRCm39) |
L1948F |
probably damaging |
Het |
| Clstn1 |
A |
T |
4: 149,722,769 (GRCm39) |
H469L |
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,047 (GRCm39) |
G594S |
possibly damaging |
Het |
| Ctsq |
A |
T |
13: 61,184,941 (GRCm39) |
D248E |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,903,771 (GRCm39) |
I276K |
possibly damaging |
Het |
| Gbf1 |
G |
A |
19: 46,272,688 (GRCm39) |
|
probably null |
Het |
| Gldn |
T |
A |
9: 54,245,748 (GRCm39) |
I433N |
probably damaging |
Het |
| Gm136 |
T |
A |
4: 34,752,322 (GRCm39) |
E69V |
probably damaging |
Het |
| Gm28177 |
T |
C |
1: 52,121,738 (GRCm39) |
|
probably null |
Het |
| Gtf2h2 |
A |
G |
13: 100,617,506 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
T |
C |
3: 132,806,570 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
T |
C |
7: 27,026,158 (GRCm39) |
D615G |
probably damaging |
Het |
| Mgme1 |
C |
T |
2: 144,113,909 (GRCm39) |
P4S |
probably benign |
Het |
| Nae1 |
A |
G |
8: 105,252,910 (GRCm39) |
|
probably null |
Het |
| Nup133 |
G |
A |
8: 124,636,733 (GRCm39) |
A956V |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,882,711 (GRCm39) |
M529K |
possibly damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,890,683 (GRCm39) |
E519V |
possibly damaging |
Het |
| Pacs1 |
A |
T |
19: 5,203,726 (GRCm39) |
V333E |
probably damaging |
Het |
| Polh |
C |
T |
17: 46,483,169 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
A |
G |
19: 3,540,826 (GRCm39) |
C431R |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,051,087 (GRCm39) |
S206P |
possibly damaging |
Het |
| Rab20 |
A |
G |
8: 11,504,212 (GRCm39) |
Y163H |
probably benign |
Het |
| Sde2 |
T |
A |
1: 180,683,383 (GRCm39) |
C46S |
possibly damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Spata20 |
T |
G |
11: 94,369,943 (GRCm39) |
L784F |
probably damaging |
Het |
| Tnnt1 |
A |
C |
7: 4,510,549 (GRCm39) |
M224R |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,178,358 (GRCm39) |
F349L |
possibly damaging |
Het |
| Ttf1 |
T |
C |
2: 28,963,895 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
A |
14: 20,623,905 (GRCm39) |
S651C |
probably damaging |
Het |
| Vps45 |
A |
G |
3: 95,907,378 (GRCm39) |
*571R |
probably null |
Het |
| Yod1 |
G |
A |
1: 130,646,870 (GRCm39) |
G249E |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,997,428 (GRCm39) |
Y340C |
probably damaging |
Het |
| Zfp366 |
G |
A |
13: 99,383,080 (GRCm39) |
|
probably benign |
Het |
| Zfp648 |
T |
A |
1: 154,079,935 (GRCm39) |
D31E |
possibly damaging |
Het |
|
| Other mutations in Pik3c3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-04-20 |
Incidental Mutation