Incidental Mutation 'IGL02526:Pi4k2b'
| ID |
297100 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pi4k2b
|
| Ensembl Gene |
ENSMUSG00000029186 |
| Gene Name |
phosphatidylinositol 4-kinase type 2 beta |
| Synonyms |
2610042N09Rik, 4933409G22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
IGL02526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
52898916-52926682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52925081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 442
(F442L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031081]
[ENSMUST00000031082]
|
| AlphaFold |
Q8CBQ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031081
AA Change: F465L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031081
Gene: ENSMUSG00000029186
AA Change: F465L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
Pfam:PI3_PI4_kinase
|
117 |
417 |
3.9e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031082
AA Change: F442L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031082
Gene: ENSMUSG00000029186
AA Change: F442L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
Pfam:PI3_PI4_kinase
|
85 |
401 |
7.4e-61 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
G |
5: 121,784,923 (GRCm39) |
V231A |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,297,509 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
G |
A |
6: 125,849,714 (GRCm39) |
|
probably null |
Het |
| Aspm |
A |
G |
1: 139,417,457 (GRCm39) |
E2818G |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Caprin1 |
T |
C |
2: 103,605,948 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,793,779 (GRCm39) |
H292R |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,143,353 (GRCm39) |
T430M |
possibly damaging |
Het |
| Fgd6 |
A |
G |
10: 93,936,373 (GRCm39) |
N902S |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,639,847 (GRCm39) |
I66T |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,530,602 (GRCm39) |
F158L |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,780,979 (GRCm39) |
E617G |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,680,781 (GRCm39) |
S269G |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,872,103 (GRCm39) |
I376N |
probably damaging |
Het |
| Lonrf2 |
T |
A |
1: 38,839,791 (GRCm39) |
M435L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,419,876 (GRCm39) |
D69V |
possibly damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,978,371 (GRCm39) |
P453S |
probably benign |
Het |
| Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,252,275 (GRCm39) |
C49S |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
| Prmt8 |
A |
C |
6: 127,688,786 (GRCm39) |
S195A |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,717,967 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
C |
A |
3: 79,578,153 (GRCm39) |
|
probably null |
Het |
| Skor1 |
A |
T |
9: 63,053,159 (GRCm39) |
M270K |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,676,438 (GRCm39) |
N495D |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,507,095 (GRCm39) |
V350A |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,147,463 (GRCm39) |
V430D |
probably damaging |
Het |
| Slit2 |
C |
A |
5: 48,461,565 (GRCm39) |
C1537* |
probably null |
Het |
| Tas2r135 |
A |
T |
6: 42,383,214 (GRCm39) |
H251L |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,642,042 (GRCm39) |
F436L |
probably benign |
Het |
| Them6 |
A |
T |
15: 74,593,504 (GRCm39) |
T121S |
possibly damaging |
Het |
| Tmem145 |
G |
A |
7: 25,007,657 (GRCm39) |
M221I |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,761,360 (GRCm39) |
V2300A |
probably benign |
Het |
| Usf3 |
C |
A |
16: 44,040,674 (GRCm39) |
A1718D |
possibly damaging |
Het |
| Usp10 |
C |
A |
8: 120,675,514 (GRCm39) |
S511Y |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wnt9a |
T |
C |
11: 59,219,331 (GRCm39) |
F119S |
probably damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,677,338 (GRCm39) |
G880S |
probably benign |
Het |
|
| Other mutations in Pi4k2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00559:Pi4k2b
|
APN |
5 |
52,908,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00850:Pi4k2b
|
APN |
5 |
52,918,292 (GRCm39) |
nonsense |
probably null |
|
|
IGL01580:Pi4k2b
|
APN |
5 |
52,912,003 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02667:Pi4k2b
|
APN |
5 |
52,907,947 (GRCm39) |
splice site |
probably benign |
|
|
IGL02946:Pi4k2b
|
APN |
5 |
52,910,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03117:Pi4k2b
|
APN |
5 |
52,905,765 (GRCm39) |
missense |
probably benign |
0.44 |
|
PIT4651001:Pi4k2b
|
UTSW |
5 |
52,905,812 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0070:Pi4k2b
|
UTSW |
5 |
52,914,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Pi4k2b
|
UTSW |
5 |
52,925,096 (GRCm39) |
makesense |
probably null |
|
|
R1816:Pi4k2b
|
UTSW |
5 |
52,908,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2048:Pi4k2b
|
UTSW |
5 |
52,905,773 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2058:Pi4k2b
|
UTSW |
5 |
52,908,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4909:Pi4k2b
|
UTSW |
5 |
52,911,971 (GRCm39) |
unclassified |
probably benign |
|
|
R5335:Pi4k2b
|
UTSW |
5 |
52,899,098 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5661:Pi4k2b
|
UTSW |
5 |
52,900,906 (GRCm39) |
splice site |
probably null |
|
|
R6002:Pi4k2b
|
UTSW |
5 |
52,914,247 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7259:Pi4k2b
|
UTSW |
5 |
52,910,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:Pi4k2b
|
UTSW |
5 |
52,914,211 (GRCm39) |
missense |
probably benign |
|
|
R8725:Pi4k2b
|
UTSW |
5 |
52,908,031 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8727:Pi4k2b
|
UTSW |
5 |
52,908,031 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9282:Pi4k2b
|
UTSW |
5 |
52,900,879 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9562:Pi4k2b
|
UTSW |
5 |
52,908,799 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9758:Pi4k2b
|
UTSW |
5 |
52,918,331 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1088:Pi4k2b
|
UTSW |
5 |
52,918,273 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Posted On |
2015-04-16 |
Incidental Mutation