Incidental Mutation 'IGL02959:Pik3r1'
| ID |
365252 |
| 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 # |
IGL02959
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
101817269-101904725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 101894037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 44
(D44A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055518]
|
| AlphaFold |
P26450 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055518
AA Change: D44A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000056774
Gene: ENSMUSG00000041417
AA Change: D44A
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
T |
6: 128,544,023 (GRCm39) |
A506D |
probably benign |
Het |
| Agap1 |
G |
T |
1: 89,770,913 (GRCm39) |
V635L |
possibly damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,329,331 (GRCm39) |
K9E |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
| Atm |
T |
C |
9: 53,382,718 (GRCm39) |
H1957R |
probably damaging |
Het |
| Bcr |
T |
C |
10: 74,996,222 (GRCm39) |
F922S |
probably benign |
Het |
| Cfap44 |
T |
A |
16: 44,291,230 (GRCm39) |
|
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,926,906 (GRCm39) |
V243A |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 15,960,465 (GRCm39) |
C3317R |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,241,942 (GRCm39) |
K133R |
probably damaging |
Het |
| Ecm1 |
T |
A |
3: 95,644,989 (GRCm39) |
Q136L |
probably damaging |
Het |
| Fscn3 |
C |
A |
6: 28,435,997 (GRCm39) |
A431E |
possibly damaging |
Het |
| Gas7 |
C |
T |
11: 67,565,061 (GRCm39) |
|
probably benign |
Het |
| Gbx2 |
A |
G |
1: 89,856,517 (GRCm39) |
V291A |
probably damaging |
Het |
| Hipk3 |
G |
A |
2: 104,301,604 (GRCm39) |
T196M |
probably damaging |
Het |
| Il20ra |
T |
A |
10: 19,634,789 (GRCm39) |
N343K |
probably benign |
Het |
| Il24 |
C |
T |
1: 130,813,470 (GRCm39) |
W42* |
probably null |
Het |
| Kif13b |
A |
T |
14: 65,005,166 (GRCm39) |
I1153F |
probably damaging |
Het |
| Krt1c |
A |
T |
15: 101,719,763 (GRCm39) |
S636T |
unknown |
Het |
| Or11g24 |
A |
T |
14: 50,662,389 (GRCm39) |
M138L |
possibly damaging |
Het |
| Or13a25 |
C |
T |
7: 140,247,463 (GRCm39) |
P81S |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,737 (GRCm39) |
F289S |
probably damaging |
Het |
| Or4k52 |
T |
A |
2: 111,610,955 (GRCm39) |
C97S |
probably damaging |
Het |
| Or6d15 |
A |
T |
6: 116,559,505 (GRCm39) |
M134K |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,845,378 (GRCm39) |
D796G |
possibly damaging |
Het |
| Peli2 |
A |
T |
14: 48,477,754 (GRCm39) |
T99S |
probably benign |
Het |
| Pi4k2a |
A |
T |
19: 42,101,510 (GRCm39) |
K317N |
probably benign |
Het |
| Pkhd1 |
G |
T |
1: 20,678,640 (GRCm39) |
S96* |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,489,904 (GRCm39) |
E9G |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,592,254 (GRCm39) |
F71S |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,906,928 (GRCm39) |
L2296F |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,631,384 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,295,366 (GRCm39) |
K217E |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,937,056 (GRCm39) |
L350P |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,098,487 (GRCm39) |
S540R |
probably damaging |
Het |
| Smc3 |
G |
T |
19: 53,611,988 (GRCm39) |
V354L |
probably benign |
Het |
| Smurf1 |
T |
A |
5: 144,836,199 (GRCm39) |
I105F |
probably damaging |
Het |
| Stx7 |
G |
T |
10: 24,031,247 (GRCm39) |
R17L |
probably benign |
Het |
| Tbca |
C |
T |
13: 94,979,203 (GRCm39) |
R74C |
probably benign |
Het |
| Tmem92 |
T |
C |
11: 94,669,504 (GRCm39) |
Q153R |
possibly damaging |
Het |
| Trim41 |
C |
A |
11: 48,698,307 (GRCm39) |
G553V |
probably damaging |
Het |
| Trim75 |
A |
T |
8: 65,435,417 (GRCm39) |
N344K |
possibly damaging |
Het |
| Tsr1 |
A |
G |
11: 74,791,075 (GRCm39) |
D218G |
probably benign |
Het |
| Ubr2 |
A |
C |
17: 47,286,877 (GRCm39) |
V474G |
probably damaging |
Het |
| Unc45a |
T |
G |
7: 79,982,721 (GRCm39) |
|
probably benign |
Het |
| Zfp609 |
C |
T |
9: 65,610,675 (GRCm39) |
A763T |
probably benign |
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 |
|
IGL00911:Pik3r1
|
APN |
13 |
101,894,169 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation