Incidental Mutation 'IGL02946:Pi4k2b'
ID |
364747 |
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: 0.231)
|
Stock # |
IGL02946
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
52898916-52926682 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 52910549 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 278
(F278L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031081]
[ENSMUST00000031082]
[ENSMUST00000131526]
|
AlphaFold |
Q8CBQ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031081
AA Change: F278L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031081 Gene: ENSMUSG00000029186 AA Change: F278L
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 |
possibly damaging
Transcript: ENSMUST00000031082
AA Change: F255L
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000031082 Gene: ENSMUSG00000029186 AA Change: F255L
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
Pfam:PI3_PI4_kinase
|
85 |
401 |
7.4e-61 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131526
|
SMART Domains |
Protein: ENSMUSP00000142802 Gene: ENSMUSG00000029186
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
24 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145825
|
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 |
Abca8a |
G |
A |
11: 109,919,041 (GRCm39) |
|
probably benign |
Het |
Actr3b |
T |
C |
5: 26,053,481 (GRCm39) |
I270T |
possibly damaging |
Het |
Adgrf2 |
T |
C |
17: 43,021,384 (GRCm39) |
Y480C |
probably damaging |
Het |
Arhgap27 |
T |
C |
11: 103,229,174 (GRCm39) |
T514A |
probably damaging |
Het |
BC031181 |
C |
T |
18: 75,141,736 (GRCm39) |
|
probably benign |
Het |
Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
Ccm2 |
G |
A |
11: 6,546,195 (GRCm39) |
R335H |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Crabp1 |
T |
C |
9: 54,672,232 (GRCm39) |
F16S |
possibly damaging |
Het |
Crmp1 |
C |
T |
5: 37,441,424 (GRCm39) |
A502V |
probably damaging |
Het |
Ehhadh |
A |
T |
16: 21,581,672 (GRCm39) |
V440D |
probably damaging |
Het |
Galnt3 |
T |
A |
2: 65,925,562 (GRCm39) |
I392L |
probably damaging |
Het |
Gm12689 |
T |
A |
4: 99,184,490 (GRCm39) |
N114K |
unknown |
Het |
Hspa2 |
A |
G |
12: 76,451,947 (GRCm39) |
T214A |
probably damaging |
Het |
Itga7 |
T |
C |
10: 128,769,952 (GRCm39) |
I32T |
probably benign |
Het |
Itgal |
A |
G |
7: 126,913,540 (GRCm39) |
S682G |
probably damaging |
Het |
Kctd1 |
C |
T |
18: 15,107,036 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
A |
2: 41,202,571 (GRCm39) |
D439V |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,734,366 (GRCm39) |
K3258E |
probably damaging |
Het |
Mgat4c |
T |
C |
10: 102,225,114 (GRCm39) |
S443P |
probably benign |
Het |
Mylk |
G |
A |
16: 34,742,158 (GRCm39) |
G890E |
probably benign |
Het |
Mylk2 |
T |
A |
2: 152,761,130 (GRCm39) |
L446* |
probably null |
Het |
Niban1 |
A |
T |
1: 151,525,176 (GRCm39) |
I194F |
probably damaging |
Het |
Or2t26 |
T |
G |
11: 49,039,719 (GRCm39) |
F212V |
probably damaging |
Het |
Pitpnm3 |
A |
G |
11: 71,983,378 (GRCm39) |
S84P |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,431,617 (GRCm39) |
|
probably benign |
Het |
Prr5l |
C |
A |
2: 101,602,529 (GRCm39) |
|
probably null |
Het |
Ptprs |
T |
C |
17: 56,731,032 (GRCm39) |
T719A |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,648,280 (GRCm39) |
H128R |
probably benign |
Het |
Rhox13 |
A |
G |
X: 37,218,652 (GRCm39) |
K205E |
probably damaging |
Het |
Rif1 |
C |
A |
2: 52,000,137 (GRCm39) |
S1197* |
probably null |
Het |
Sgta |
A |
G |
10: 80,885,612 (GRCm39) |
|
probably benign |
Het |
Slc25a5 |
T |
A |
X: 36,061,506 (GRCm39) |
M239K |
probably damaging |
Het |
Stil |
T |
A |
4: 114,887,110 (GRCm39) |
H734Q |
probably benign |
Het |
Stk32b |
T |
C |
5: 37,688,883 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
G |
4: 139,152,606 (GRCm39) |
F1999C |
probably damaging |
Het |
Wfdc2 |
A |
C |
2: 164,406,009 (GRCm39) |
T86P |
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,578,834 (GRCm39) |
S760G |
probably damaging |
Het |
Zfp668 |
A |
T |
7: 127,465,690 (GRCm39) |
L498Q |
possibly damaging |
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 |
IGL02526:Pi4k2b
|
APN |
5 |
52,925,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02667:Pi4k2b
|
APN |
5 |
52,907,947 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-12-18 |