Incidental Mutation 'IGL00911:Pik3r1'
| ID |
28835 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pik3r1
|
| Ensembl Gene |
ENSMUSG00000041417 |
| Gene Name |
phosphoinositide-3-kinase regulatory subunit 1 |
| Synonyms |
p85alpha, p55alpha, PI3K, p50alpha |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to C
at 101894169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055518]
|
| AlphaFold |
P26450 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055518
|
| SMART Domains |
Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
6 |
78 |
2.81e-11 |
SMART |
|
low complexity region
|
79 |
99 |
N/A |
INTRINSIC |
|
RhoGAP
|
126 |
298 |
1.94e-37 |
SMART |
|
low complexity region
|
303 |
314 |
N/A |
INTRINSIC |
|
SH2
|
331 |
414 |
9.96e-28 |
SMART |
|
Pfam:PI3K_P85_iSH2
|
431 |
599 |
7.8e-67 |
PFAM |
|
SH2
|
622 |
704 |
7.33e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193295
|
| 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 phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit perinatal lethality associated with hepatic necrosis, chylous ascites, enlarged muscle fibers, calcification of cardiac tissue, and hypoglycemia. Mutants lacking only the major isoform are immunodeficient. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
T |
C |
5: 90,673,450 (GRCm39) |
V234A |
probably benign |
Het |
| Alas1 |
T |
A |
9: 106,113,671 (GRCm39) |
I525F |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,598,027 (GRCm39) |
|
probably benign |
Het |
| Apbb2 |
G |
A |
5: 66,608,855 (GRCm39) |
T264M |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,100,094 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,376,636 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,778,320 (GRCm39) |
P2793L |
probably damaging |
Het |
| Clstn1 |
T |
G |
4: 149,727,648 (GRCm39) |
|
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,821,354 (GRCm39) |
V13A |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,026,391 (GRCm39) |
|
probably null |
Het |
| Eogt |
A |
T |
6: 97,096,961 (GRCm39) |
V349E |
probably damaging |
Het |
| Epb41 |
T |
C |
4: 131,717,095 (GRCm39) |
D353G |
possibly damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,663,871 (GRCm39) |
I207F |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,479,883 (GRCm39) |
S1937G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,130,882 (GRCm39) |
G500* |
probably null |
Het |
| Khdc1b |
A |
T |
1: 21,454,578 (GRCm39) |
K94* |
probably null |
Het |
| Lpcat2 |
T |
C |
8: 93,617,338 (GRCm39) |
Y367H |
probably damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,915,689 (GRCm39) |
N762T |
probably benign |
Het |
| Mbl2 |
T |
A |
19: 30,215,794 (GRCm39) |
D100E |
possibly damaging |
Het |
| Mthfr |
T |
G |
4: 148,125,759 (GRCm39) |
S31A |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,202,688 (GRCm39) |
S558T |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,366 (GRCm39) |
L1254P |
probably damaging |
Het |
| Or2ag12 |
A |
T |
7: 106,277,040 (GRCm39) |
Y218N |
probably damaging |
Het |
| Pabpc1l |
C |
A |
2: 163,884,343 (GRCm39) |
T360K |
probably damaging |
Het |
| Pcgf1 |
G |
A |
6: 83,057,606 (GRCm39) |
G92S |
probably damaging |
Het |
| Penk |
T |
C |
4: 4,134,347 (GRCm39) |
Y100C |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,971 (GRCm39) |
T3446S |
probably benign |
Het |
| Plcg2 |
G |
A |
8: 118,313,254 (GRCm39) |
D473N |
probably benign |
Het |
| Poll |
G |
T |
19: 45,542,040 (GRCm39) |
T422K |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,113,106 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
C |
A |
10: 86,805,617 (GRCm39) |
C243F |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,122,007 (GRCm39) |
E215G |
possibly damaging |
Het |
| Tas1r2 |
C |
A |
4: 139,387,602 (GRCm39) |
P354T |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,899,560 (GRCm39) |
Q2533* |
probably null |
Het |
| Tmem121 |
C |
T |
12: 113,151,851 (GRCm39) |
A23V |
probably damaging |
Het |
|
| Other mutations in Pik3r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Pik3r1
|
APN |
13 |
101,827,044 (GRCm39) |
start codon destroyed |
probably benign |
|
|
IGL00484:Pik3r1
|
APN |
13 |
101,838,255 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01620:Pik3r1
|
APN |
13 |
101,822,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01872:Pik3r1
|
APN |
13 |
101,825,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02544:Pik3r1
|
APN |
13 |
101,823,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Pik3r1
|
APN |
13 |
101,894,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
anubis
|
UTSW |
13 |
101,839,284 (GRCm39) |
nonsense |
probably null |
|
|
Astro_boy
|
UTSW |
13 |
101,838,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Pennywhistle
|
UTSW |
13 |
101,825,914 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Rocket
|
UTSW |
13 |
101,825,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Starburst
|
UTSW |
13 |
101,894,166 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R0635:Pik3r1
|
UTSW |
13 |
101,893,926 (GRCm39) |
missense |
probably benign |
|
|
R0751:Pik3r1
|
UTSW |
13 |
101,822,866 (GRCm39) |
splice site |
probably null |
|
|
R0787:Pik3r1
|
UTSW |
13 |
101,827,031 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0845:Pik3r1
|
UTSW |
13 |
101,822,772 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0891:Pik3r1
|
UTSW |
13 |
101,837,974 (GRCm39) |
missense |
probably benign |
|
|
R1066:Pik3r1
|
UTSW |
13 |
101,825,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Pik3r1
|
UTSW |
13 |
101,822,866 (GRCm39) |
splice site |
probably null |
|
|
R1735:Pik3r1
|
UTSW |
13 |
101,822,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2474:Pik3r1
|
UTSW |
13 |
101,839,284 (GRCm39) |
nonsense |
probably null |
|
|
R3015:Pik3r1
|
UTSW |
13 |
101,823,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3419:Pik3r1
|
UTSW |
13 |
101,828,723 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3876:Pik3r1
|
UTSW |
13 |
101,821,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3964:Pik3r1
|
UTSW |
13 |
101,825,193 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4175:Pik3r1
|
UTSW |
13 |
101,838,241 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4175:Pik3r1
|
UTSW |
13 |
101,838,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4422:Pik3r1
|
UTSW |
13 |
101,830,892 (GRCm39) |
missense |
probably benign |
|
|
R4890:Pik3r1
|
UTSW |
13 |
101,894,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Pik3r1
|
UTSW |
13 |
101,825,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Pik3r1
|
UTSW |
13 |
101,828,744 (GRCm39) |
missense |
probably benign |
|
|
R6066:Pik3r1
|
UTSW |
13 |
101,822,828 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6254:Pik3r1
|
UTSW |
13 |
101,825,914 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7421:Pik3r1
|
UTSW |
13 |
101,825,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:Pik3r1
|
UTSW |
13 |
101,845,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7538:Pik3r1
|
UTSW |
13 |
101,825,914 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7605:Pik3r1
|
UTSW |
13 |
101,839,346 (GRCm39) |
missense |
probably benign |
|
|
R7739:Pik3r1
|
UTSW |
13 |
101,846,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8695:Pik3r1
|
UTSW |
13 |
101,894,062 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9146:Pik3r1
|
UTSW |
13 |
101,825,136 (GRCm39) |
splice site |
probably benign |
|
|
R9315:Pik3r1
|
UTSW |
13 |
101,894,166 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R9678:Pik3r1
|
UTSW |
13 |
101,839,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation