Incidental Mutation 'IGL02667:Pi4k2b'
| ID |
302788 |
| 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 # |
IGL02667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
52898916-52926682 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 52907947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031081]
[ENSMUST00000031082]
[ENSMUST00000131526]
|
| AlphaFold |
Q8CBQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031081
|
| SMART Domains |
Protein: ENSMUSP00000031081
Gene: ENSMUSG00000029186
| 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 benign
Transcript: ENSMUST00000031082
|
| SMART Domains |
Protein: ENSMUSP00000031082
Gene: ENSMUSG00000029186
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6530409C15Rik |
A |
G |
6: 28,217,670 (GRCm39) |
|
noncoding transcript |
Het |
| Akr1e1 |
G |
A |
13: 4,645,666 (GRCm39) |
P174L |
possibly damaging |
Het |
| Arf5 |
C |
A |
6: 28,425,198 (GRCm39) |
N95K |
probably damaging |
Het |
| Atl3 |
T |
C |
19: 7,486,781 (GRCm39) |
F39L |
possibly damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,730,583 (GRCm39) |
S183P |
probably damaging |
Het |
| Dicer1 |
T |
A |
12: 104,681,165 (GRCm39) |
R449S |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,956,534 (GRCm39) |
I736T |
probably benign |
Het |
| Eny2 |
T |
A |
15: 44,292,984 (GRCm39) |
M12K |
possibly damaging |
Het |
| Fbxl21 |
C |
T |
13: 56,684,942 (GRCm39) |
R349C |
probably benign |
Het |
| Gstm2 |
A |
G |
3: 107,893,424 (GRCm39) |
L13P |
probably damaging |
Het |
| Gucy2g |
G |
A |
19: 55,194,609 (GRCm39) |
T936M |
possibly damaging |
Het |
| Mbp |
G |
T |
18: 82,572,740 (GRCm39) |
K12N |
probably damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,748,678 (GRCm39) |
|
probably benign |
Het |
| Nr2f2 |
T |
C |
7: 70,007,733 (GRCm39) |
S117G |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,113,325 (GRCm39) |
F1504L |
possibly damaging |
Het |
| Ppm1d |
T |
C |
11: 85,223,111 (GRCm39) |
W239R |
probably damaging |
Het |
| Setd1b |
T |
A |
5: 123,295,560 (GRCm39) |
S1043T |
unknown |
Het |
| Tgfbrap1 |
T |
C |
1: 43,106,780 (GRCm39) |
I298V |
probably benign |
Het |
| Tmem190 |
T |
A |
7: 4,786,157 (GRCm39) |
D20E |
probably benign |
Het |
| Tph2 |
A |
T |
10: 114,915,950 (GRCm39) |
C408S |
probably benign |
Het |
| Trmt44 |
A |
C |
5: 35,728,396 (GRCm39) |
Y295D |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,771,776 (GRCm39) |
R621H |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,415,905 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,880,463 (GRCm39) |
E134G |
probably 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 |
|
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