Incidental Mutation 'PIT4283001:Pik3cg'
ID |
554378 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4283001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
32223472-32258658 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32255864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 41
(E41G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053215]
[ENSMUST00000085469]
[ENSMUST00000156904]
[ENSMUST00000217915]
[ENSMUST00000220366]
|
AlphaFold |
Q9JHG7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053215
AA Change: E41G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062864 Gene: ENSMUSG00000020573 AA Change: E41G
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: ENSMUST00000085469
AA Change: E41G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082596 Gene: ENSMUSG00000020573 AA Change: E41G
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: ENSMUST00000156904
AA Change: E41G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123539 Gene: ENSMUSG00000020573 AA Change: E41G
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: ENSMUST00000217915
AA Change: E41G
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220366
AA Change: E41G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 93.2%
- 3x: 91.1%
- 10x: 86.5%
- 20x: 76.2%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
A |
C |
10: 76,285,093 (GRCm39) |
M1L |
probably benign |
Het |
Aacs |
C |
A |
5: 125,561,719 (GRCm39) |
A119D |
probably damaging |
Het |
Abcb1b |
T |
A |
5: 8,863,693 (GRCm39) |
V216D |
probably damaging |
Het |
Adap2 |
T |
A |
11: 80,068,089 (GRCm39) |
L367H |
probably damaging |
Het |
Adcy7 |
T |
A |
8: 89,042,120 (GRCm39) |
M373K |
probably damaging |
Het |
Arhgap31 |
A |
G |
16: 38,429,354 (GRCm39) |
L507P |
probably damaging |
Het |
Brinp3 |
C |
T |
1: 146,777,161 (GRCm39) |
T536I |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,521,953 (GRCm39) |
D1718G |
probably damaging |
Het |
Cacna2d1 |
A |
C |
5: 16,507,292 (GRCm39) |
Y347S |
probably benign |
Het |
Carf |
C |
A |
1: 60,167,161 (GRCm39) |
P165T |
probably benign |
Het |
Cplx3 |
T |
C |
9: 57,523,359 (GRCm39) |
E66G |
probably damaging |
Het |
Dnaaf5 |
A |
G |
5: 139,151,917 (GRCm39) |
T523A |
probably benign |
Het |
Dnajc10 |
T |
C |
2: 80,161,739 (GRCm39) |
S326P |
probably benign |
Het |
Eif4enif1 |
A |
T |
11: 3,184,464 (GRCm39) |
E528D |
probably damaging |
Het |
Elp2 |
G |
A |
18: 24,755,187 (GRCm39) |
D392N |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,482,577 (GRCm39) |
S3079P |
probably damaging |
Het |
Fat1 |
G |
T |
8: 45,490,244 (GRCm39) |
V3719F |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,917,897 (GRCm39) |
S1509C |
possibly damaging |
Het |
Fcsk |
A |
G |
8: 111,614,064 (GRCm39) |
V693A |
probably benign |
Het |
Frmpd4 |
C |
T |
X: 166,512,030 (GRCm39) |
R8H |
possibly damaging |
Het |
Glud1 |
T |
A |
14: 34,058,129 (GRCm39) |
I380N |
probably damaging |
Het |
Gnl2 |
A |
G |
4: 124,940,099 (GRCm39) |
S324G |
probably damaging |
Het |
Gramd1b |
C |
T |
9: 40,366,752 (GRCm39) |
G72D |
probably benign |
Het |
Gramd2b |
A |
T |
18: 56,622,735 (GRCm39) |
E299V |
probably damaging |
Het |
Grin1 |
C |
T |
2: 25,187,864 (GRCm39) |
R544H |
probably damaging |
Het |
Ifitm7 |
A |
T |
16: 13,801,471 (GRCm39) |
V96E |
probably damaging |
Het |
Lsm14b |
T |
A |
2: 179,674,336 (GRCm39) |
M293K |
probably benign |
Het |
Marf1 |
T |
A |
16: 13,946,432 (GRCm39) |
T1230S |
probably benign |
Het |
Morc2b |
T |
A |
17: 33,355,042 (GRCm39) |
H910L |
probably benign |
Het |
Mylip |
A |
G |
13: 45,560,110 (GRCm39) |
N247S |
possibly damaging |
Het |
Nup50l |
A |
G |
6: 96,142,696 (GRCm39) |
I116T |
probably benign |
Het |
Or4a73 |
T |
C |
2: 89,420,572 (GRCm39) |
M296V |
probably benign |
Het |
Osbpl3 |
T |
C |
6: 50,323,068 (GRCm39) |
S264G |
probably benign |
Het |
Pds5b |
C |
T |
5: 150,701,774 (GRCm39) |
R802W |
probably damaging |
Het |
Plk3 |
A |
G |
4: 116,990,489 (GRCm39) |
I112T |
probably damaging |
Het |
Pwp2 |
A |
G |
10: 78,020,921 (GRCm39) |
M1T |
probably null |
Het |
Rtel1 |
T |
C |
2: 180,988,683 (GRCm39) |
I417T |
probably benign |
Het |
Sirt1 |
A |
T |
10: 63,157,565 (GRCm39) |
N616K |
probably benign |
Het |
Sirt6 |
T |
C |
10: 81,458,252 (GRCm39) |
S334G |
possibly damaging |
Het |
Strc |
T |
C |
2: 121,205,788 (GRCm39) |
Y827C |
probably damaging |
Het |
Taf1b |
T |
C |
12: 24,597,594 (GRCm39) |
Y385H |
possibly damaging |
Het |
Tgm5 |
T |
C |
2: 120,902,066 (GRCm39) |
E201G |
possibly damaging |
Het |
Thbd |
G |
C |
2: 148,249,003 (GRCm39) |
N288K |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,169,064 (GRCm39) |
N1068K |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,904,756 (GRCm39) |
E361G |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,835,158 (GRCm39) |
N2736S |
|
Het |
Vwa5b1 |
A |
G |
4: 138,327,574 (GRCm39) |
L334P |
probably damaging |
Het |
Zan |
A |
G |
5: 137,398,355 (GRCm39) |
S4226P |
unknown |
Het |
Zdhhc24 |
T |
C |
19: 4,928,778 (GRCm39) |
M1T |
probably null |
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 |
IGL03139:Pik3cg
|
APN |
12 |
32,242,222 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTAGGGTCTGCACCACTTG -3'
(R):5'- GCAGGAAGCAGTGTCTCTTGAC -3'
Sequencing Primer
(F):5'- GGTACCTGTCATAGATCTCATACC -3'
(R):5'- GACAAAGCTCTGTTTCTCCAC -3'
|
Posted On |
2019-06-07 |