Incidental Mutation 'IGL03004:Pip4k2b'
| ID |
407483 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pip4k2b
|
| Ensembl Gene |
ENSMUSG00000018547 |
| Gene Name |
phosphatidylinositol-5-phosphate 4-kinase, type II, beta |
| Synonyms |
c11, PI5P4Kbeta, Pip5k2b |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.357)
|
| Stock # |
IGL03004
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97605983-97635530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97615300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 187
(Y187H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018691]
|
| AlphaFold |
Q80XI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018691
AA Change: Y187H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018691
Gene: ENSMUSG00000018547
AA Change: Y187H
| Domain | Start | End | E-Value | Type |
|---|
|
PIPKc
|
67 |
416 |
4.49e-156 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144012
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are smaller than normal with less body fat and an increased sensitivity to insulin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atrx |
A |
T |
X: 104,876,115 (GRCm39) |
C78* |
probably null |
Het |
| Birc6 |
T |
A |
17: 74,919,180 (GRCm39) |
N1999K |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,019,826 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
G |
A |
19: 6,361,413 (GRCm39) |
R313Q |
probably benign |
Het |
| Clip3 |
A |
G |
7: 29,991,789 (GRCm39) |
Y55C |
probably damaging |
Het |
| Ddit4l |
A |
G |
3: 137,331,966 (GRCm39) |
N111D |
probably benign |
Het |
| Eprs1 |
T |
G |
1: 185,114,030 (GRCm39) |
M326R |
probably damaging |
Het |
| F8 |
C |
T |
X: 74,255,658 (GRCm39) |
G2045D |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,555,738 (GRCm39) |
|
probably benign |
Het |
| Gm10577 |
T |
C |
4: 100,877,526 (GRCm39) |
|
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,648,205 (GRCm39) |
S133P |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,316,952 (GRCm39) |
F736V |
possibly damaging |
Het |
| Klf8 |
T |
C |
X: 152,165,716 (GRCm39) |
L95P |
probably damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Map3k12 |
A |
G |
15: 102,412,631 (GRCm39) |
V247A |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,919,413 (GRCm39) |
Y6211H |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,677,194 (GRCm39) |
Y219C |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,956,687 (GRCm39) |
|
probably benign |
Het |
| Ranbp3 |
T |
A |
17: 57,014,207 (GRCm39) |
V246E |
probably damaging |
Het |
| Rtf1 |
C |
A |
2: 119,531,754 (GRCm39) |
|
probably benign |
Het |
| Sema3b |
G |
A |
9: 107,480,114 (GRCm39) |
P208L |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,205,881 (GRCm39) |
D416G |
possibly damaging |
Het |
| Spam1 |
T |
C |
6: 24,796,913 (GRCm39) |
V288A |
probably damaging |
Het |
| Stac |
A |
C |
9: 111,431,608 (GRCm39) |
S248A |
probably benign |
Het |
| Tmem178b |
C |
A |
6: 40,222,515 (GRCm39) |
R77S |
probably damaging |
Het |
| Vegfd |
T |
C |
X: 163,185,104 (GRCm39) |
L352P |
probably benign |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,702 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,772 (GRCm39) |
|
probably benign |
Het |
| Vsig10 |
A |
G |
5: 117,463,140 (GRCm39) |
Y122C |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,518,766 (GRCm39) |
V121E |
probably damaging |
Het |
| Zrsr2 |
T |
C |
X: 162,722,397 (GRCm39) |
Q285R |
probably benign |
Het |
|
| Other mutations in Pip4k2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00954:Pip4k2b
|
APN |
11 |
97,635,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01567:Pip4k2b
|
APN |
11 |
97,620,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01568:Pip4k2b
|
APN |
11 |
97,620,378 (GRCm39) |
critical splice donor site |
probably null |
|
|
bigun
|
UTSW |
11 |
97,613,762 (GRCm39) |
splice site |
probably benign |
|
|
yuge
|
UTSW |
11 |
97,613,260 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0119:Pip4k2b
|
UTSW |
11 |
97,613,762 (GRCm39) |
splice site |
probably benign |
|
|
R0657:Pip4k2b
|
UTSW |
11 |
97,613,762 (GRCm39) |
splice site |
probably benign |
|
|
R1223:Pip4k2b
|
UTSW |
11 |
97,609,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1252:Pip4k2b
|
UTSW |
11 |
97,635,420 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2914:Pip4k2b
|
UTSW |
11 |
97,613,260 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3702:Pip4k2b
|
UTSW |
11 |
97,620,374 (GRCm39) |
splice site |
probably benign |
|
|
R4173:Pip4k2b
|
UTSW |
11 |
97,613,201 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4998:Pip4k2b
|
UTSW |
11 |
97,613,261 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5084:Pip4k2b
|
UTSW |
11 |
97,610,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5128:Pip4k2b
|
UTSW |
11 |
97,609,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6590:Pip4k2b
|
UTSW |
11 |
97,620,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6690:Pip4k2b
|
UTSW |
11 |
97,620,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7104:Pip4k2b
|
UTSW |
11 |
97,623,542 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7676:Pip4k2b
|
UTSW |
11 |
97,611,188 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9161:Pip4k2b
|
UTSW |
11 |
97,615,245 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9277:Pip4k2b
|
UTSW |
11 |
97,613,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation