Incidental Mutation 'IGL01894:Pik3ca'
| ID |
179334 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pik3ca
|
| Ensembl Gene |
ENSMUSG00000027665 |
| Gene Name |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| Synonyms |
6330412C24Rik, caPI3K, p110alpha |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01894
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
32451203-32520256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32504175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 622
(Y622H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029201]
[ENSMUST00000108242]
[ENSMUST00000108243]
|
| AlphaFold |
P42337 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029201
AA Change: Y622H
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029201
Gene: ENSMUSG00000027665
AA Change: Y622H
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
31 |
108 |
3.03e-46 |
SMART |
|
PI3K_rbd
|
173 |
292 |
5e-47 |
SMART |
|
PI3K_C2
|
322 |
425 |
2.39e-35 |
SMART |
|
C2
|
333 |
441 |
3.95e-1 |
SMART |
|
PI3Ka
|
518 |
704 |
8.35e-99 |
SMART |
|
Blast:PI3Kc
|
733 |
766 |
1e-11 |
BLAST |
|
PI3Kc
|
798 |
1065 |
8.82e-130 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108242
AA Change: Y500H
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103877
Gene: ENSMUSG00000027665
AA Change: Y500H
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_rbd
|
51 |
170 |
5e-47 |
SMART |
|
PI3K_C2
|
200 |
303 |
2.39e-35 |
SMART |
|
C2
|
211 |
319 |
3.95e-1 |
SMART |
|
PI3Ka
|
396 |
582 |
8.35e-99 |
SMART |
|
Blast:PI3Kc
|
611 |
644 |
1e-11 |
BLAST |
|
PI3Kc
|
676 |
943 |
8.82e-130 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108243
AA Change: Y622H
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103878
Gene: ENSMUSG00000027665
AA Change: Y622H
| Domain | Start | End | E-Value | Type |
|---|
|
PI3K_p85B
|
31 |
108 |
3.03e-46 |
SMART |
|
PI3K_rbd
|
173 |
292 |
5e-47 |
SMART |
|
PI3K_C2
|
322 |
425 |
2.39e-35 |
SMART |
|
C2
|
333 |
441 |
3.95e-1 |
SMART |
|
PI3Ka
|
518 |
704 |
8.35e-99 |
SMART |
|
Blast:PI3Kc
|
733 |
766 |
1e-11 |
BLAST |
|
PI3Kc
|
798 |
1065 |
8.82e-130 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192994
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous null or knock-in mutations of this gene lead to embryonic death associated with growth retardation, vascular defects and hemorrhage. Surviving mice homozygous for a knock-in allele show impaired lymphangiogenesis, ascites, reduced weight, and resistance to Ras-driven skin tumorigenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,324,865 (GRCm39) |
I530L |
probably benign |
Het |
| Adam3 |
T |
C |
8: 25,177,954 (GRCm39) |
D653G |
probably benign |
Het |
| Car13 |
T |
C |
3: 14,726,525 (GRCm39) |
F227S |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,417,747 (GRCm39) |
N300S |
probably benign |
Het |
| Fat3 |
C |
T |
9: 16,287,145 (GRCm39) |
V793I |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpa33 |
T |
A |
1: 165,992,785 (GRCm39) |
D299E |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,098,648 (GRCm39) |
V40I |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,705,121 (GRCm39) |
H1455R |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,122,828 (GRCm39) |
K751E |
possibly damaging |
Het |
| Nek5 |
T |
A |
8: 22,603,835 (GRCm39) |
H114L |
probably damaging |
Het |
| Nipal1 |
G |
A |
5: 72,820,882 (GRCm39) |
A37T |
probably benign |
Het |
| Or13a24 |
T |
C |
7: 140,154,683 (GRCm39) |
Y206H |
possibly damaging |
Het |
| Or5b101 |
G |
T |
19: 13,005,649 (GRCm39) |
L15I |
probably damaging |
Het |
| Or5b96 |
T |
C |
19: 12,867,007 (GRCm39) |
|
probably benign |
Het |
| Pknox2 |
G |
T |
9: 36,835,038 (GRCm39) |
H144N |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,559,397 (GRCm39) |
Y526C |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,557 (GRCm39) |
D54G |
probably damaging |
Het |
| Rpn2 |
C |
T |
2: 157,136,093 (GRCm39) |
T167I |
probably benign |
Het |
| Slc22a30 |
G |
T |
19: 8,364,021 (GRCm39) |
H218Q |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,113,664 (GRCm39) |
S878P |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,323,775 (GRCm39) |
C362* |
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wscd2 |
C |
T |
5: 113,710,357 (GRCm39) |
R294W |
probably damaging |
Het |
|
| Other mutations in Pik3ca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Pik3ca
|
APN |
3 |
32,516,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03118:Pik3ca
|
APN |
3 |
32,514,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Pik3ca
|
APN |
3 |
32,494,035 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03401:Pik3ca
|
APN |
3 |
32,491,963 (GRCm39) |
splice site |
probably null |
|
|
Interrupted
|
UTSW |
3 |
32,492,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lilfella
|
UTSW |
3 |
32,508,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Peninsular
|
UTSW |
3 |
32,516,970 (GRCm39) |
missense |
probably benign |
0.38 |
|
Severed
|
UTSW |
3 |
32,492,076 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0084:Pik3ca
|
UTSW |
3 |
32,516,937 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0116:Pik3ca
|
UTSW |
3 |
32,514,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Pik3ca
|
UTSW |
3 |
32,493,902 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0513:Pik3ca
|
UTSW |
3 |
32,515,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Pik3ca
|
UTSW |
3 |
32,504,410 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0622:Pik3ca
|
UTSW |
3 |
32,490,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Pik3ca
|
UTSW |
3 |
32,504,176 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1193:Pik3ca
|
UTSW |
3 |
32,510,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1292:Pik3ca
|
UTSW |
3 |
32,508,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Pik3ca
|
UTSW |
3 |
32,515,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Pik3ca
|
UTSW |
3 |
32,515,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Pik3ca
|
UTSW |
3 |
32,504,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1962:Pik3ca
|
UTSW |
3 |
32,498,016 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1969:Pik3ca
|
UTSW |
3 |
32,505,903 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2006:Pik3ca
|
UTSW |
3 |
32,504,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Pik3ca
|
UTSW |
3 |
32,492,076 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2366:Pik3ca
|
UTSW |
3 |
32,516,943 (GRCm39) |
nonsense |
probably null |
|
|
R2680:Pik3ca
|
UTSW |
3 |
32,498,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2680:Pik3ca
|
UTSW |
3 |
32,490,697 (GRCm39) |
nonsense |
probably null |
|
|
R3001:Pik3ca
|
UTSW |
3 |
32,516,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Pik3ca
|
UTSW |
3 |
32,516,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Pik3ca
|
UTSW |
3 |
32,494,084 (GRCm39) |
nonsense |
probably null |
|
|
R4416:Pik3ca
|
UTSW |
3 |
32,515,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4758:Pik3ca
|
UTSW |
3 |
32,492,127 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4822:Pik3ca
|
UTSW |
3 |
32,492,131 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4856:Pik3ca
|
UTSW |
3 |
32,491,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Pik3ca
|
UTSW |
3 |
32,491,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5297:Pik3ca
|
UTSW |
3 |
32,504,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5636:Pik3ca
|
UTSW |
3 |
32,515,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5663:Pik3ca
|
UTSW |
3 |
32,516,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Pik3ca
|
UTSW |
3 |
32,515,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Pik3ca
|
UTSW |
3 |
32,494,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6347:Pik3ca
|
UTSW |
3 |
32,516,970 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6538:Pik3ca
|
UTSW |
3 |
32,493,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7020:Pik3ca
|
UTSW |
3 |
32,490,428 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7720:Pik3ca
|
UTSW |
3 |
32,490,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7864:Pik3ca
|
UTSW |
3 |
32,497,762 (GRCm39) |
nonsense |
probably null |
|
|
R8218:Pik3ca
|
UTSW |
3 |
32,491,996 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8478:Pik3ca
|
UTSW |
3 |
32,505,997 (GRCm39) |
missense |
probably benign |
|
|
R9100:Pik3ca
|
UTSW |
3 |
32,514,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Pik3ca
|
UTSW |
3 |
32,503,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9255:Pik3ca
|
UTSW |
3 |
32,496,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9267:Pik3ca
|
UTSW |
3 |
32,492,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Pik3ca
|
UTSW |
3 |
32,508,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9501:Pik3ca
|
UTSW |
3 |
32,504,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9555:Pik3ca
|
UTSW |
3 |
32,505,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pik3ca
|
UTSW |
3 |
32,492,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation