Incidental Mutation 'R8075:Pik3c3'
| ID |
628994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3c3
|
| Ensembl Gene |
ENSMUSG00000033628 |
| Gene Name |
phosphatidylinositol 3-kinase catalytic subunit type 3 |
| Synonyms |
5330434F23Rik, Vps34 |
| MMRRC Submission |
067509-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8075 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
30405800-30481179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30438082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 491
(N491D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091978]
[ENSMUST00000115811]
[ENSMUST00000115812]
[ENSMUST00000131405]
|
| AlphaFold |
Q6PF93 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091978
AA Change: N491D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089601
Gene: ENSMUSG00000033628
AA Change: N491D
| 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 damaging
Transcript: ENSMUST00000115811
AA Change: N491D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111478
Gene: ENSMUSG00000033628
AA Change: N491D
| 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: N491D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111479
Gene: ENSMUSG00000033628
AA Change: N491D
| 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 damaging
Transcript: ENSMUST00000131405
AA Change: N491D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128927
Gene: ENSMUSG00000033628
AA Change: N491D
| 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: 99.8%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
T |
5: 121,790,148 (GRCm39) |
H69Q |
probably benign |
Het |
| Aif1 |
T |
A |
17: 35,390,811 (GRCm39) |
N87Y |
unknown |
Het |
| Caprin2 |
A |
T |
6: 148,770,590 (GRCm39) |
V468E |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,189,335 (GRCm39) |
V559D |
probably benign |
Het |
| Chrna4 |
A |
C |
2: 180,680,859 (GRCm39) |
I3S |
unknown |
Het |
| Cog3 |
T |
C |
14: 75,968,142 (GRCm39) |
Y407C |
probably damaging |
Het |
| Col15a1 |
A |
G |
4: 47,208,359 (GRCm39) |
H3R |
probably benign |
Het |
| Ctxn1 |
A |
G |
8: 4,308,553 (GRCm39) |
V26A |
probably benign |
Het |
| Cyp27b1 |
A |
C |
10: 126,887,382 (GRCm39) |
T405P |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,060,682 (GRCm39) |
I181V |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,100,810 (GRCm39) |
S269T |
possibly damaging |
Het |
| Efcab6 |
A |
T |
15: 83,851,824 (GRCm39) |
D351E |
probably damaging |
Het |
| Fam181a |
A |
T |
12: 103,282,296 (GRCm39) |
H67L |
possibly damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,871,861 (GRCm39) |
L458P |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,913,048 (GRCm38) |
I1439T |
probably benign |
Het |
| Foxj2 |
C |
T |
6: 122,815,055 (GRCm39) |
Q364* |
probably null |
Het |
| Gm3138 |
A |
T |
14: 4,250,532 (GRCm38) |
N55Y |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,279,403 (GRCm39) |
T1802A |
possibly damaging |
Het |
| Hoxc6 |
T |
C |
15: 102,919,325 (GRCm39) |
I187T |
probably damaging |
Het |
| Ighg3 |
T |
A |
12: 113,321,097 (GRCm39) |
I387F |
|
Het |
| Insr |
A |
T |
8: 3,205,862 (GRCm39) |
M1309K |
probably benign |
Het |
| Itsn1 |
A |
T |
16: 91,686,097 (GRCm39) |
N1290I |
unknown |
Het |
| Jag2 |
C |
A |
12: 112,878,894 (GRCm39) |
R509L |
probably benign |
Het |
| Kctd11 |
T |
A |
11: 69,771,095 (GRCm39) |
|
probably benign |
Het |
| Med13 |
C |
A |
11: 86,163,296 (GRCm39) |
V2126F |
probably damaging |
Het |
| Mknk2 |
G |
A |
10: 80,507,982 (GRCm39) |
|
probably benign |
Het |
| Oga |
A |
T |
19: 45,749,621 (GRCm39) |
N699K |
probably damaging |
Het |
| Or52l1 |
T |
G |
7: 104,830,343 (GRCm39) |
H74P |
probably damaging |
Het |
| Or5m13b |
A |
G |
2: 85,754,470 (GRCm39) |
N286S |
probably benign |
Het |
| Pdzrn4 |
T |
C |
15: 92,575,605 (GRCm39) |
V337A |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,257,274 (GRCm39) |
S96T |
unknown |
Het |
| Rab37 |
G |
T |
11: 114,982,759 (GRCm39) |
|
probably null |
Het |
| Rp9 |
G |
A |
9: 22,368,788 (GRCm39) |
T57M |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,851,713 (GRCm39) |
V1274A |
probably damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,298,519 (GRCm39) |
V57M |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc39a14 |
A |
T |
14: 70,546,247 (GRCm39) |
I392N |
possibly damaging |
Het |
| Sowahb |
G |
A |
5: 93,192,276 (GRCm39) |
Q148* |
probably null |
Het |
| Spon1 |
T |
C |
7: 113,616,026 (GRCm39) |
|
probably null |
Het |
| Susd4 |
C |
A |
1: 182,592,748 (GRCm39) |
T48K |
possibly damaging |
Het |
| Taf4b |
T |
C |
18: 14,916,749 (GRCm39) |
V33A |
possibly damaging |
Het |
| Tas2r139 |
T |
A |
6: 42,118,154 (GRCm39) |
N95K |
probably benign |
Het |
| Tle3 |
T |
C |
9: 61,281,841 (GRCm39) |
M57T |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,985,852 (GRCm39) |
M815K |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,340,644 (GRCm39) |
D796G |
probably damaging |
Het |
| Wnk1 |
C |
T |
6: 119,909,675 (GRCm39) |
G41S |
probably damaging |
Het |
| Zfp867 |
A |
G |
11: 59,355,066 (GRCm39) |
S88P |
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 |
|
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 |
|
|
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'- GGTAATTCCATATCCTCTGTGTGC -3'
(R):5'- CGATTGCACTGACTTCTGTG -3'
Sequencing Primer
(F):5'- ATATCCTCTGTGTGCTGTCTTAG -3'
(R):5'- GATTGCACTGACTTCTGTGAACAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation