Incidental Mutation 'R6576:Pik3c3'
| ID |
523526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3c3
|
| Ensembl Gene |
ENSMUSG00000033628 |
| Gene Name |
phosphatidylinositol 3-kinase catalytic subunit type 3 |
| Synonyms |
5330434F23Rik, Vps34 |
| MMRRC Submission |
044700-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6576 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
30405800-30481179 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 30475794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091978]
[ENSMUST00000115812]
[ENSMUST00000131405]
|
| AlphaFold |
Q6PF93 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000091978
AA Change: I848M
|
| SMART Domains |
Protein: ENSMUSP00000089601
Gene: ENSMUSG00000033628
AA Change: I848M
| 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: 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
92% (34/37) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
T |
4: 62,450,842 (GRCm39) |
T102S |
possibly damaging |
Het |
| Aff4 |
C |
A |
11: 53,291,268 (GRCm39) |
H743N |
probably damaging |
Het |
| Apba3 |
A |
G |
10: 81,108,925 (GRCm39) |
T563A |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,760,578 (GRCm39) |
S774P |
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,294,704 (GRCm39) |
Y528C |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,099,198 (GRCm39) |
S767P |
probably benign |
Het |
| Ces1b |
T |
A |
8: 93,783,547 (GRCm39) |
T558S |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,453,533 (GRCm39) |
Y1176C |
probably damaging |
Het |
| Cldn15 |
A |
T |
5: 137,003,470 (GRCm39) |
E157D |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,686,295 (GRCm39) |
|
probably null |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Dnaaf3 |
A |
G |
7: 4,526,379 (GRCm39) |
I566T |
probably benign |
Het |
| Drc7 |
A |
T |
8: 95,801,886 (GRCm39) |
I716F |
probably damaging |
Het |
| Eddm13 |
G |
A |
7: 6,280,541 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,288,506 (GRCm39) |
T339I |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,033,839 (GRCm39) |
I2497T |
probably benign |
Het |
| Fmo6 |
A |
G |
1: 162,750,264 (GRCm39) |
F264S |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,292,556 (GRCm39) |
D356G |
probably damaging |
Het |
| Id1 |
T |
C |
2: 152,578,583 (GRCm39) |
V108A |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,897,027 (GRCm39) |
D291G |
possibly damaging |
Het |
| Klc3 |
G |
T |
7: 19,131,905 (GRCm39) |
D157E |
possibly damaging |
Het |
| Lasp1 |
C |
T |
11: 97,724,402 (GRCm39) |
R94C |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,496,308 (GRCm39) |
M93K |
probably damaging |
Het |
| Lrrc75a |
G |
A |
11: 62,496,695 (GRCm39) |
P289L |
probably damaging |
Het |
| Med11 |
G |
T |
11: 70,343,996 (GRCm39) |
K105N |
probably benign |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,380 (GRCm39) |
I146N |
probably damaging |
Het |
| Mrpl20 |
A |
G |
4: 155,891,371 (GRCm39) |
I69V |
probably benign |
Het |
| Rad54b |
T |
A |
4: 11,601,577 (GRCm39) |
N377K |
probably benign |
Het |
| Rilp |
A |
G |
11: 75,403,218 (GRCm39) |
|
probably null |
Het |
| Ripk2 |
A |
T |
4: 16,131,558 (GRCm39) |
|
probably null |
Het |
| Rnf167 |
A |
C |
11: 70,540,588 (GRCm39) |
K156T |
possibly damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,199 (GRCm39) |
T236A |
probably damaging |
Het |
| Snx29 |
T |
C |
16: 11,532,920 (GRCm39) |
|
probably null |
Het |
| Sox6 |
T |
A |
7: 115,300,937 (GRCm39) |
I177F |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,555,419 (GRCm39) |
|
probably null |
Het |
| Unc13a |
T |
A |
8: 72,106,122 (GRCm39) |
T661S |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,232 (GRCm39) |
T512A |
probably benign |
Het |
| Vmn2r87 |
G |
A |
10: 130,314,654 (GRCm39) |
L311F |
probably benign |
Het |
| Wdr64 |
G |
T |
1: 175,633,494 (GRCm39) |
S915I |
possibly damaging |
Het |
| Xpo5 |
T |
A |
17: 46,551,734 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
T |
C |
14: 20,771,942 (GRCm39) |
V1548A |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2018-06-22 |
Incidental Mutation