Incidental Mutation 'H8786:Pik3c3'
| ID |
44484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pik3c3
|
| Ensembl Gene |
ENSMUSG00000033628 |
| Gene Name |
phosphatidylinositol 3-kinase catalytic subunit type 3 |
| Synonyms |
5330434F23Rik, Vps34 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
H8786 (G3)
of strain
617
|
| Quality Score |
152 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
30405800-30481179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30427396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 300
(V300A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091978]
[ENSMUST00000115811]
[ENSMUST00000115812]
[ENSMUST00000131405]
|
| AlphaFold |
Q6PF93 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091978
AA Change: V300A
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000089601
Gene: ENSMUSG00000033628
AA Change: V300A
| 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: V300A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111478
Gene: ENSMUSG00000033628
AA Change: V300A
| 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: V300A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111479
Gene: ENSMUSG00000033628
AA Change: V300A
| 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 damaging
Transcript: ENSMUST00000131405
AA Change: V300A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128927
Gene: ENSMUSG00000033628
AA Change: V300A
| 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: 99.7%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,498,905 (GRCm39) |
Y363H |
probably benign |
Het |
| 4933402N03Rik |
T |
A |
7: 130,740,906 (GRCm39) |
R103S |
probably damaging |
Het |
| Aars1 |
A |
G |
8: 111,772,187 (GRCm39) |
D459G |
probably benign |
Het |
| Adam25 |
A |
T |
8: 41,207,261 (GRCm39) |
M176L |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,087,551 (GRCm39) |
I471V |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,931,388 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
T |
A |
13: 98,083,461 (GRCm39) |
Q1136L |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,178,543 (GRCm39) |
C164* |
probably null |
Het |
| Avl9 |
G |
A |
6: 56,734,295 (GRCm39) |
A625T |
probably damaging |
Het |
| Avpr1a |
A |
T |
10: 122,285,373 (GRCm39) |
M222L |
probably benign |
Het |
| B4galnt4 |
A |
T |
7: 140,651,235 (GRCm39) |
M939L |
probably damaging |
Het |
| B4galt6 |
A |
G |
18: 20,822,001 (GRCm39) |
F331S |
probably benign |
Het |
| C2cd2 |
G |
T |
16: 97,680,840 (GRCm39) |
Q325K |
possibly damaging |
Het |
| Caml |
T |
G |
13: 55,776,409 (GRCm39) |
L216R |
probably damaging |
Het |
| Cd200r4 |
A |
G |
16: 44,653,736 (GRCm39) |
T132A |
possibly damaging |
Het |
| Ces1h |
A |
C |
8: 94,089,550 (GRCm39) |
V283G |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,369,629 (GRCm39) |
V427D |
possibly damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,122 (GRCm39) |
N357I |
possibly damaging |
Het |
| Foxq1 |
C |
G |
13: 31,743,441 (GRCm39) |
S181W |
probably damaging |
Het |
| Gfra2 |
C |
T |
14: 71,215,818 (GRCm39) |
T169M |
possibly damaging |
Het |
| Gm42542 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
| Hoxa13 |
CGG |
CGNGG |
6: 52,260,636 (GRCm38) |
|
probably null |
Het |
| Hsd11b1 |
C |
A |
1: 192,922,560 (GRCm39) |
A166S |
probably benign |
Het |
| Kcnab3 |
T |
A |
11: 69,219,093 (GRCm39) |
F101L |
probably damaging |
Het |
| Klf6 |
C |
A |
13: 5,911,790 (GRCm39) |
H51Q |
probably damaging |
Het |
| Krtap4-8 |
G |
A |
11: 99,670,898 (GRCm39) |
P191L |
unknown |
Het |
| Lrrk2 |
T |
A |
15: 91,557,561 (GRCm39) |
N26K |
probably benign |
Het |
| Mrgprd |
T |
C |
7: 144,876,004 (GRCm39) |
S292P |
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,053,725 (GRCm39) |
I127T |
possibly damaging |
Het |
| Myo7a |
T |
G |
7: 97,744,985 (GRCm39) |
N280T |
possibly damaging |
Het |
| Nipal4 |
A |
G |
11: 46,041,304 (GRCm39) |
F297S |
probably damaging |
Het |
| Npas1 |
A |
G |
7: 16,195,275 (GRCm39) |
I351T |
possibly damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,341 (GRCm39) |
E8G |
probably benign |
Het |
| Or4a72 |
C |
A |
2: 89,405,623 (GRCm39) |
G149V |
probably damaging |
Het |
| Or9e1 |
A |
T |
11: 58,732,146 (GRCm39) |
I69F |
probably benign |
Het |
| Parp11 |
A |
G |
6: 127,448,598 (GRCm39) |
T72A |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,928,612 (GRCm39) |
E881G |
possibly damaging |
Het |
| Polr2h |
T |
A |
16: 20,539,281 (GRCm39) |
L57* |
probably null |
Het |
| Rela |
T |
A |
19: 5,697,046 (GRCm39) |
S418T |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,180 (GRCm39) |
T838A |
possibly damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,560,955 (GRCm39) |
N413K |
possibly damaging |
Het |
| Slc6a2 |
A |
G |
8: 93,721,268 (GRCm39) |
I466V |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,768,876 (GRCm39) |
C329S |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,077,691 (GRCm39) |
M164V |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,007,405 (GRCm39) |
V212M |
probably damaging |
Het |
| Sqor |
A |
C |
2: 122,634,288 (GRCm39) |
I142L |
probably benign |
Het |
| Suco |
T |
C |
1: 161,680,420 (GRCm39) |
E317G |
probably damaging |
Het |
| Tlk2 |
T |
A |
11: 105,145,805 (GRCm39) |
I337N |
possibly damaging |
Het |
| Tln1 |
A |
T |
4: 43,544,589 (GRCm39) |
N1113K |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,068,182 (GRCm39) |
Y234C |
probably damaging |
Het |
| Tmem167 |
A |
C |
13: 90,246,585 (GRCm39) |
K36N |
probably damaging |
Het |
| Trim72 |
T |
C |
7: 127,603,963 (GRCm39) |
L103P |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,408,012 (GRCm39) |
|
probably null |
Het |
| Urb1 |
T |
A |
16: 90,566,357 (GRCm39) |
M1477L |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,898,164 (GRCm39) |
M721K |
possibly damaging |
Het |
| Zfp143 |
T |
G |
7: 109,693,575 (GRCm39) |
D636E |
probably damaging |
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 |
|
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 |
|
R6492:Pik3c3
|
UTSW |
18 |
30,457,615 (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'- AGGACATTGCCACTTTGGCTTCC -3'
(R):5'- TCCAGAATGCCAAGCTGTCTCCAC -3'
Sequencing Primer
(F):5'- GTTCCTTCAATGTCCTAATGAGTTG -3'
(R):5'- TGTAGCAAGACTGCTTGACC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation