Incidental Mutation 'IGL03139:Pik3cg'
ID |
410639 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pik3cg
|
Ensembl Gene |
ENSMUSG00000020573 |
Gene Name |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
Synonyms |
PI3K, 5830428L06Rik, p110gamma, PI(3)Kgamma, PI3Kgamma |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03139
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32242222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 963
(I963V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053215]
[ENSMUST00000085469]
[ENSMUST00000156904]
[ENSMUST00000217915]
[ENSMUST00000220366]
|
AlphaFold |
Q9JHG7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053215
AA Change: I963V
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000062864 Gene: ENSMUSG00000020573 AA Change: I963V
Domain | Start | End | E-Value | Type |
PI3K_rbd
|
203 |
312 |
3.56e-43 |
SMART |
PI3K_C2
|
349 |
452 |
1.15e-28 |
SMART |
PI3Ka
|
541 |
733 |
4.41e-89 |
SMART |
PI3Kc
|
829 |
1094 |
3.9e-131 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085469
AA Change: I963V
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000082596 Gene: ENSMUSG00000020573 AA Change: I963V
Domain | Start | End | E-Value | Type |
PI3K_rbd
|
203 |
312 |
3.56e-43 |
SMART |
PI3K_C2
|
349 |
452 |
1.15e-28 |
SMART |
PI3Ka
|
541 |
733 |
4.41e-89 |
SMART |
PI3Kc
|
829 |
1094 |
3.9e-131 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156904
AA Change: I963V
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000123539 Gene: ENSMUSG00000020573 AA Change: I963V
Domain | Start | End | E-Value | Type |
PI3K_rbd
|
203 |
312 |
3.56e-43 |
SMART |
PI3K_C2
|
349 |
452 |
1.15e-28 |
SMART |
PI3Ka
|
541 |
733 |
4.41e-89 |
SMART |
PI3Kc
|
829 |
1094 |
3.9e-131 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217915
AA Change: I963V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220366
AA Change: I963V
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015] PHENOTYPE: Mice homozygous for disruptions in this gene display defects in thymocyte development, T cell activation, and neutrophil migration. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
T |
5: 99,391,067 (GRCm39) |
F97L |
probably benign |
Het |
Acad10 |
T |
C |
5: 121,764,145 (GRCm39) |
Y928C |
probably benign |
Het |
Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
Atxn7 |
T |
C |
14: 14,052,994 (GRCm38) |
V144A |
probably damaging |
Het |
Baiap2l2 |
T |
A |
15: 79,155,753 (GRCm39) |
N107I |
probably damaging |
Het |
Cd180 |
A |
G |
13: 102,842,924 (GRCm39) |
K657E |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,961,547 (GRCm39) |
|
probably null |
Het |
Cma2 |
A |
G |
14: 56,211,256 (GRCm39) |
I183V |
probably damaging |
Het |
Col18a1 |
C |
A |
10: 76,949,177 (GRCm39) |
A112S |
possibly damaging |
Het |
Ctu2 |
A |
G |
8: 123,205,446 (GRCm39) |
D100G |
possibly damaging |
Het |
Defb29 |
T |
C |
2: 152,380,812 (GRCm39) |
K66E |
probably damaging |
Het |
Dis3l |
T |
A |
9: 64,219,232 (GRCm39) |
D566V |
probably damaging |
Het |
Dtx1 |
C |
A |
5: 120,832,955 (GRCm39) |
R161L |
probably damaging |
Het |
Efcab6 |
T |
A |
15: 83,836,422 (GRCm39) |
L436F |
probably benign |
Het |
Fip1l1 |
A |
G |
5: 74,731,776 (GRCm39) |
I254V |
possibly damaging |
Het |
Gid8 |
C |
A |
2: 180,356,501 (GRCm39) |
A46E |
probably damaging |
Het |
Grm8 |
G |
T |
6: 27,618,649 (GRCm39) |
Q398K |
probably damaging |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Iigp1c |
T |
C |
18: 60,379,221 (GRCm39) |
V252A |
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,784,480 (GRCm39) |
|
probably benign |
Het |
Lrrc8a |
T |
C |
2: 30,145,683 (GRCm39) |
S166P |
probably damaging |
Het |
Map2k6 |
A |
T |
11: 110,387,299 (GRCm39) |
|
probably benign |
Het |
Mmab |
A |
G |
5: 114,571,405 (GRCm39) |
L157P |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,953,324 (GRCm39) |
E535V |
probably damaging |
Het |
Mup4 |
T |
C |
4: 59,958,482 (GRCm39) |
|
probably benign |
Het |
Nup210 |
A |
G |
6: 90,997,221 (GRCm39) |
S820P |
probably benign |
Het |
Or52b4 |
A |
G |
7: 102,184,517 (GRCm39) |
K188E |
possibly damaging |
Het |
Plcg1 |
T |
C |
2: 160,590,049 (GRCm39) |
|
probably null |
Het |
Plscr1 |
T |
C |
9: 92,148,438 (GRCm39) |
|
probably benign |
Het |
Prss36 |
C |
T |
7: 127,532,783 (GRCm39) |
G202E |
probably damaging |
Het |
Psen2 |
A |
T |
1: 180,068,350 (GRCm39) |
V101E |
probably damaging |
Het |
Saxo1 |
T |
C |
4: 86,405,999 (GRCm39) |
M67V |
possibly damaging |
Het |
Sfrp4 |
G |
A |
13: 19,807,728 (GRCm39) |
M42I |
probably damaging |
Het |
Strn3 |
C |
A |
12: 51,699,633 (GRCm39) |
|
probably benign |
Het |
Tgfb1i1 |
C |
A |
7: 127,848,476 (GRCm39) |
P197Q |
possibly damaging |
Het |
Thsd4 |
A |
G |
9: 59,904,456 (GRCm39) |
V580A |
probably benign |
Het |
Tjp1 |
C |
A |
7: 64,990,182 (GRCm39) |
|
probably benign |
Het |
Tprn |
C |
T |
2: 25,154,066 (GRCm39) |
A456V |
probably benign |
Het |
Ttc34 |
T |
C |
4: 154,945,727 (GRCm39) |
Y763H |
probably benign |
Het |
Ttn |
T |
C |
2: 76,601,507 (GRCm39) |
T18686A |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,332,722 (GRCm39) |
T71S |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,831,742 (GRCm39) |
Y349F |
probably benign |
Het |
Zbtb41 |
A |
G |
1: 139,351,576 (GRCm39) |
T230A |
probably benign |
Het |
|
Other mutations in Pik3cg |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00489:Pik3cg
|
APN |
12 |
32,255,148 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02182:Pik3cg
|
APN |
12 |
32,255,272 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02273:Pik3cg
|
APN |
12 |
32,226,809 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02312:Pik3cg
|
APN |
12 |
32,244,820 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02752:Pik3cg
|
APN |
12 |
32,254,262 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03107:Pik3cg
|
APN |
12 |
32,250,594 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03267:Pik3cg
|
APN |
12 |
32,255,307 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03367:Pik3cg
|
APN |
12 |
32,242,120 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4283001:Pik3cg
|
UTSW |
12 |
32,255,864 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4472001:Pik3cg
|
UTSW |
12 |
32,254,983 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4514001:Pik3cg
|
UTSW |
12 |
32,254,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R0112:Pik3cg
|
UTSW |
12 |
32,245,714 (GRCm39) |
splice site |
probably benign |
|
R0145:Pik3cg
|
UTSW |
12 |
32,254,321 (GRCm39) |
missense |
probably benign |
0.20 |
R0279:Pik3cg
|
UTSW |
12 |
32,254,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R0471:Pik3cg
|
UTSW |
12 |
32,244,770 (GRCm39) |
missense |
probably damaging |
0.99 |
R0494:Pik3cg
|
UTSW |
12 |
32,254,545 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0573:Pik3cg
|
UTSW |
12 |
32,247,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Pik3cg
|
UTSW |
12 |
32,255,202 (GRCm39) |
missense |
probably benign |
|
R0699:Pik3cg
|
UTSW |
12 |
32,247,341 (GRCm39) |
splice site |
probably benign |
|
R0826:Pik3cg
|
UTSW |
12 |
32,245,672 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1076:Pik3cg
|
UTSW |
12 |
32,245,713 (GRCm39) |
splice site |
probably benign |
|
R1101:Pik3cg
|
UTSW |
12 |
32,245,645 (GRCm39) |
missense |
probably null |
0.98 |
R1459:Pik3cg
|
UTSW |
12 |
32,254,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R1625:Pik3cg
|
UTSW |
12 |
32,244,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R1971:Pik3cg
|
UTSW |
12 |
32,242,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Pik3cg
|
UTSW |
12 |
32,254,024 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2109:Pik3cg
|
UTSW |
12 |
32,243,709 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2319:Pik3cg
|
UTSW |
12 |
32,226,735 (GRCm39) |
missense |
probably damaging |
0.99 |
R3421:Pik3cg
|
UTSW |
12 |
32,254,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R3422:Pik3cg
|
UTSW |
12 |
32,254,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R3740:Pik3cg
|
UTSW |
12 |
32,255,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R3777:Pik3cg
|
UTSW |
12 |
32,244,708 (GRCm39) |
missense |
probably damaging |
0.98 |
R4300:Pik3cg
|
UTSW |
12 |
32,226,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R4395:Pik3cg
|
UTSW |
12 |
32,254,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R4725:Pik3cg
|
UTSW |
12 |
32,243,596 (GRCm39) |
critical splice donor site |
probably null |
|
R4785:Pik3cg
|
UTSW |
12 |
32,255,198 (GRCm39) |
missense |
probably damaging |
0.97 |
R4809:Pik3cg
|
UTSW |
12 |
32,254,080 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4981:Pik3cg
|
UTSW |
12 |
32,254,103 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5033:Pik3cg
|
UTSW |
12 |
32,249,195 (GRCm39) |
splice site |
probably null |
|
R5161:Pik3cg
|
UTSW |
12 |
32,254,977 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5806:Pik3cg
|
UTSW |
12 |
32,254,952 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6136:Pik3cg
|
UTSW |
12 |
32,254,358 (GRCm39) |
missense |
probably benign |
0.00 |
R6746:Pik3cg
|
UTSW |
12 |
32,244,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R6895:Pik3cg
|
UTSW |
12 |
32,254,346 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7000:Pik3cg
|
UTSW |
12 |
32,242,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R7089:Pik3cg
|
UTSW |
12 |
32,226,845 (GRCm39) |
missense |
probably benign |
0.00 |
R7113:Pik3cg
|
UTSW |
12 |
32,255,666 (GRCm39) |
missense |
probably damaging |
0.98 |
R7372:Pik3cg
|
UTSW |
12 |
32,247,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Pik3cg
|
UTSW |
12 |
32,245,647 (GRCm39) |
missense |
probably damaging |
0.99 |
R7596:Pik3cg
|
UTSW |
12 |
32,254,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R7771:Pik3cg
|
UTSW |
12 |
32,254,013 (GRCm39) |
missense |
probably benign |
|
R7910:Pik3cg
|
UTSW |
12 |
32,250,516 (GRCm39) |
missense |
probably benign |
0.16 |
R7974:Pik3cg
|
UTSW |
12 |
32,254,031 (GRCm39) |
missense |
probably benign |
0.00 |
R8084:Pik3cg
|
UTSW |
12 |
32,245,687 (GRCm39) |
missense |
probably benign |
0.30 |
R8352:Pik3cg
|
UTSW |
12 |
32,243,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R8452:Pik3cg
|
UTSW |
12 |
32,243,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R8720:Pik3cg
|
UTSW |
12 |
32,243,688 (GRCm39) |
missense |
probably benign |
0.09 |
R8757:Pik3cg
|
UTSW |
12 |
32,255,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R8911:Pik3cg
|
UTSW |
12 |
32,247,257 (GRCm39) |
missense |
probably benign |
|
R9052:Pik3cg
|
UTSW |
12 |
32,245,708 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9166:Pik3cg
|
UTSW |
12 |
32,242,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R9209:Pik3cg
|
UTSW |
12 |
32,247,312 (GRCm39) |
missense |
probably damaging |
0.99 |
R9709:Pik3cg
|
UTSW |
12 |
32,226,687 (GRCm39) |
missense |
probably benign |
0.17 |
Z1176:Pik3cg
|
UTSW |
12 |
32,254,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |