Incidental Mutation 'R6492:Pik3c3'
ID |
523022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pik3c3
|
Ensembl Gene |
ENSMUSG00000033628 |
Gene Name |
phosphatidylinositol 3-kinase catalytic subunit type 3 |
Synonyms |
5330434F23Rik, Vps34 |
MMRRC Submission |
044624-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6492 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
30405800-30481179 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 30457615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 736
(T736M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111479
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091978]
[ENSMUST00000115811]
[ENSMUST00000115812]
[ENSMUST00000131405]
|
AlphaFold |
Q6PF93 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091978
AA Change: T736M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089601 Gene: ENSMUSG00000033628 AA Change: T736M
Domain | Start | End | E-Value | Type |
C2
|
20 |
141 |
4.44e0 |
SMART |
PI3K_C2
|
21 |
130 |
1.43e-42 |
SMART |
PI3Ka
|
283 |
530 |
3.08e-111 |
SMART |
PI3Kc
|
632 |
848 |
1.02e-84 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115811
AA Change: T736M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111478 Gene: ENSMUSG00000033628 AA Change: T736M
Domain | Start | End | E-Value | Type |
C2
|
20 |
141 |
4.44e0 |
SMART |
PI3K_C2
|
21 |
130 |
1.43e-42 |
SMART |
PI3Ka
|
283 |
530 |
3.08e-111 |
SMART |
PI3Kc
|
632 |
756 |
5.33e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115812
AA Change: T736M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111479 Gene: ENSMUSG00000033628 AA Change: T736M
Domain | Start | End | E-Value | Type |
C2
|
20 |
141 |
4.44e0 |
SMART |
PI3K_C2
|
21 |
130 |
1.43e-42 |
SMART |
PI3Ka
|
283 |
530 |
3.08e-111 |
SMART |
PI3Kc
|
632 |
884 |
1.21e-118 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131405
|
SMART Domains |
Protein: ENSMUSP00000128927 Gene: ENSMUSG00000033628
Domain | Start | End | E-Value | Type |
C2
|
20 |
141 |
4.44e0 |
SMART |
PI3K_C2
|
21 |
130 |
1.43e-42 |
SMART |
PI3Ka
|
283 |
506 |
1.78e-84 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
Validation Efficiency |
100% (60/60) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality between implantation and placentation, arrest prior to gastrulation, and show reduced cell proliferation. Mice homozygous for a conditional allele activated in T cells exhibit impaired naive Tcell homeostasis and mitophagy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
T |
6: 121,631,464 (GRCm39) |
T587I |
probably benign |
Het |
Abl1 |
T |
A |
2: 31,691,667 (GRCm39) |
M1062K |
probably benign |
Het |
Agbl4 |
G |
A |
4: 111,404,469 (GRCm39) |
D272N |
probably damaging |
Het |
Apob |
A |
T |
12: 8,058,261 (GRCm39) |
I2215F |
probably damaging |
Het |
Atp10b |
A |
T |
11: 43,109,784 (GRCm39) |
Q821H |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,678,729 (GRCm39) |
Y971C |
probably damaging |
Het |
Atp6ap1l |
A |
T |
13: 91,031,841 (GRCm39) |
H280Q |
probably damaging |
Het |
B4galt2 |
A |
T |
4: 117,734,164 (GRCm39) |
M291K |
probably damaging |
Het |
Cachd1 |
G |
T |
4: 100,809,315 (GRCm39) |
V267F |
possibly damaging |
Het |
Cadm2 |
G |
T |
16: 66,581,715 (GRCm39) |
L188M |
probably damaging |
Het |
Ccn6 |
C |
T |
10: 39,030,983 (GRCm39) |
G180D |
probably benign |
Het |
Ceacam19 |
T |
C |
7: 19,616,517 (GRCm39) |
N199S |
probably benign |
Het |
Chrna5 |
A |
G |
9: 54,905,347 (GRCm39) |
D53G |
probably benign |
Het |
Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
Cluap1 |
T |
A |
16: 3,746,476 (GRCm39) |
M279K |
probably benign |
Het |
Cngb1 |
T |
A |
8: 95,991,052 (GRCm39) |
M717L |
probably benign |
Het |
Cp |
T |
C |
3: 20,036,186 (GRCm39) |
V777A |
probably benign |
Het |
Drosha |
A |
G |
15: 12,861,792 (GRCm39) |
D594G |
probably benign |
Het |
Exo5 |
A |
G |
4: 120,778,734 (GRCm39) |
|
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gprc5b |
A |
G |
7: 118,583,800 (GRCm39) |
I23T |
possibly damaging |
Het |
Ikbke |
T |
C |
1: 131,186,955 (GRCm39) |
Y579C |
probably damaging |
Het |
Ikzf2 |
T |
C |
1: 69,578,201 (GRCm39) |
Y362C |
probably damaging |
Het |
Itfg1 |
A |
G |
8: 86,466,978 (GRCm39) |
V365A |
probably benign |
Het |
Josd2 |
T |
C |
7: 44,120,578 (GRCm39) |
I105T |
probably damaging |
Het |
Mc3r |
G |
A |
2: 172,091,074 (GRCm39) |
A99T |
possibly damaging |
Het |
Mettl22 |
T |
A |
16: 8,306,755 (GRCm39) |
|
probably null |
Het |
Mgat5 |
A |
G |
1: 127,399,301 (GRCm39) |
I619V |
probably benign |
Het |
Nin |
T |
C |
12: 70,101,308 (GRCm39) |
I430V |
probably benign |
Het |
Or52n2c |
C |
A |
7: 104,574,852 (GRCm39) |
A40S |
possibly damaging |
Het |
Or5au1 |
A |
G |
14: 52,272,902 (GRCm39) |
F222S |
probably benign |
Het |
Or5j3 |
T |
C |
2: 86,128,990 (GRCm39) |
F277L |
probably benign |
Het |
Or5w22 |
C |
G |
2: 87,363,085 (GRCm39) |
A236G |
possibly damaging |
Het |
Or8k3 |
T |
A |
2: 86,058,731 (GRCm39) |
I195F |
possibly damaging |
Het |
Parvb |
T |
C |
15: 84,188,073 (GRCm39) |
L272P |
probably damaging |
Het |
Pde2a |
A |
G |
7: 101,149,649 (GRCm39) |
K180E |
possibly damaging |
Het |
Plcb4 |
C |
T |
2: 135,814,991 (GRCm39) |
R760* |
probably null |
Het |
Pramel6 |
C |
T |
2: 87,340,766 (GRCm39) |
T366I |
probably benign |
Het |
Prr29 |
C |
T |
11: 106,266,062 (GRCm39) |
R42W |
probably damaging |
Het |
Prss12 |
A |
G |
3: 123,241,048 (GRCm39) |
I81V |
probably benign |
Het |
Ptpn13 |
A |
G |
5: 103,649,478 (GRCm39) |
T294A |
probably benign |
Het |
Ptprc |
A |
T |
1: 138,041,300 (GRCm39) |
|
probably null |
Het |
Sin3b |
T |
A |
8: 73,460,118 (GRCm39) |
|
probably null |
Het |
Slco5a1 |
T |
C |
1: 13,060,151 (GRCm39) |
Y190C |
probably damaging |
Het |
Slco6c1 |
T |
G |
1: 97,053,538 (GRCm39) |
Y121S |
probably damaging |
Het |
Srcap |
G |
T |
7: 127,121,317 (GRCm39) |
G217* |
probably null |
Het |
Ss18 |
A |
T |
18: 14,784,145 (GRCm39) |
M181K |
probably damaging |
Het |
Synm |
T |
C |
7: 67,385,809 (GRCm39) |
T176A |
probably benign |
Het |
Taf3 |
T |
C |
2: 9,955,971 (GRCm39) |
E579G |
probably damaging |
Het |
Taf7 |
A |
G |
18: 37,776,159 (GRCm39) |
I136T |
probably damaging |
Het |
Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
Tyrp1 |
A |
G |
4: 80,759,018 (GRCm39) |
D297G |
probably null |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Wwp1 |
G |
A |
4: 19,650,299 (GRCm39) |
S289L |
possibly damaging |
Het |
Xbp1 |
T |
C |
11: 5,471,005 (GRCm39) |
V4A |
probably benign |
Het |
Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
Zbtb2 |
T |
C |
10: 4,319,711 (GRCm39) |
Y105C |
probably damaging |
Het |
Zeb2 |
T |
C |
2: 45,000,508 (GRCm39) |
|
probably benign |
Het |
Zkscan8 |
A |
T |
13: 21,709,397 (GRCm39) |
I167N |
probably benign |
Het |
|
Other mutations in Pik3c3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Pik3c3
|
APN |
18 |
30,436,131 (GRCm39) |
splice site |
probably benign |
|
IGL00743:Pik3c3
|
APN |
18 |
30,407,417 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01622:Pik3c3
|
APN |
18 |
30,426,102 (GRCm39) |
splice site |
probably benign |
|
IGL01622:Pik3c3
|
APN |
18 |
30,423,578 (GRCm39) |
nonsense |
probably null |
|
IGL01623:Pik3c3
|
APN |
18 |
30,426,102 (GRCm39) |
splice site |
probably benign |
|
IGL01623:Pik3c3
|
APN |
18 |
30,423,578 (GRCm39) |
nonsense |
probably null |
|
IGL01773:Pik3c3
|
APN |
18 |
30,410,155 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01917:Pik3c3
|
APN |
18 |
30,407,499 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02033:Pik3c3
|
APN |
18 |
30,445,703 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02465:Pik3c3
|
APN |
18 |
30,477,113 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03161:Pik3c3
|
APN |
18 |
30,426,760 (GRCm39) |
missense |
probably benign |
0.37 |
IGL03221:Pik3c3
|
APN |
18 |
30,435,984 (GRCm39) |
missense |
probably benign |
0.45 |
H8786:Pik3c3
|
UTSW |
18 |
30,427,396 (GRCm39) |
missense |
probably damaging |
0.99 |
R0089:Pik3c3
|
UTSW |
18 |
30,436,131 (GRCm39) |
splice site |
probably benign |
|
R1512:Pik3c3
|
UTSW |
18 |
30,455,289 (GRCm39) |
critical splice donor site |
probably null |
|
R1713:Pik3c3
|
UTSW |
18 |
30,456,639 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1758:Pik3c3
|
UTSW |
18 |
30,410,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Pik3c3
|
UTSW |
18 |
30,477,130 (GRCm39) |
critical splice donor site |
probably null |
|
R1870:Pik3c3
|
UTSW |
18 |
30,426,185 (GRCm39) |
critical splice donor site |
probably null |
|
R2680:Pik3c3
|
UTSW |
18 |
30,477,131 (GRCm39) |
critical splice donor site |
probably null |
|
R3768:Pik3c3
|
UTSW |
18 |
30,466,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R3926:Pik3c3
|
UTSW |
18 |
30,444,382 (GRCm39) |
splice site |
probably benign |
|
R4154:Pik3c3
|
UTSW |
18 |
30,444,336 (GRCm39) |
missense |
probably benign |
0.35 |
R4293:Pik3c3
|
UTSW |
18 |
30,477,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R4570:Pik3c3
|
UTSW |
18 |
30,423,603 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4858:Pik3c3
|
UTSW |
18 |
30,477,131 (GRCm39) |
critical splice donor site |
probably null |
|
R4893:Pik3c3
|
UTSW |
18 |
30,415,053 (GRCm39) |
missense |
probably benign |
0.16 |
R4901:Pik3c3
|
UTSW |
18 |
30,435,982 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5216:Pik3c3
|
UTSW |
18 |
30,406,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R5358:Pik3c3
|
UTSW |
18 |
30,456,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R5373:Pik3c3
|
UTSW |
18 |
30,445,614 (GRCm39) |
missense |
probably benign |
0.40 |
R5374:Pik3c3
|
UTSW |
18 |
30,445,614 (GRCm39) |
missense |
probably benign |
0.40 |
R5600:Pik3c3
|
UTSW |
18 |
30,444,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R5680:Pik3c3
|
UTSW |
18 |
30,410,166 (GRCm39) |
nonsense |
probably null |
|
R5965:Pik3c3
|
UTSW |
18 |
30,431,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R6576:Pik3c3
|
UTSW |
18 |
30,475,794 (GRCm39) |
intron |
probably benign |
|
R6700:Pik3c3
|
UTSW |
18 |
30,449,954 (GRCm39) |
missense |
probably benign |
0.02 |
R7523:Pik3c3
|
UTSW |
18 |
30,426,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R7883:Pik3c3
|
UTSW |
18 |
30,407,416 (GRCm39) |
missense |
probably benign |
0.04 |
R7884:Pik3c3
|
UTSW |
18 |
30,445,624 (GRCm39) |
missense |
probably benign |
0.00 |
R7886:Pik3c3
|
UTSW |
18 |
30,452,641 (GRCm39) |
nonsense |
probably null |
|
R8075:Pik3c3
|
UTSW |
18 |
30,438,082 (GRCm39) |
missense |
probably damaging |
0.99 |
R9163:Pik3c3
|
UTSW |
18 |
30,427,483 (GRCm39) |
critical splice donor site |
probably null |
|
R9246:Pik3c3
|
UTSW |
18 |
30,466,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R9311:Pik3c3
|
UTSW |
18 |
30,445,666 (GRCm39) |
missense |
probably benign |
0.11 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTCAGGATATAACAGAGCCAG -3'
(R):5'- TCCTGTGCCCCATTTCAAGG -3'
Sequencing Primer
(F):5'- TATAACAGAGCCAGGGGGTG -3'
(R):5'- TTGGATCACCCTGGACCACATG -3'
|
Posted On |
2018-06-06 |