Incidental Mutation 'R0657:Pip4k2b'
| ID |
218669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pip4k2b
|
| Ensembl Gene |
ENSMUSG00000018547 |
| Gene Name |
phosphatidylinositol-5-phosphate 4-kinase, type II, beta |
| Synonyms |
c11, PI5P4Kbeta, Pip5k2b |
| MMRRC Submission |
038842-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.357)
|
| Stock # |
R0657 (G1)
|
| Quality Score |
43 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97605983-97635530 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 97613762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018691]
|
| AlphaFold |
Q80XI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018691
|
| SMART Domains |
Protein: ENSMUSP00000018691
Gene: ENSMUSG00000018547
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.3%
|
| Validation Efficiency |
97% (58/60) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
G |
A |
18: 70,602,553 (GRCm39) |
Q87* |
probably null |
Het |
| Aldh7a1 |
C |
T |
18: 56,670,269 (GRCm39) |
|
probably benign |
Het |
| Bfsp1 |
A |
C |
2: 143,669,570 (GRCm39) |
|
probably benign |
Het |
| Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
| Chd7 |
T |
C |
4: 8,753,141 (GRCm39) |
V546A |
probably damaging |
Het |
| Defb13 |
T |
C |
8: 22,436,877 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
A |
T |
13: 37,152,079 (GRCm39) |
D237E |
probably damaging |
Het |
| F8 |
T |
C |
X: 74,255,022 (GRCm39) |
Q2124R |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,007,622 (GRCm39) |
S1407P |
probably benign |
Het |
| Hmgcs2 |
A |
G |
3: 98,198,369 (GRCm39) |
T91A |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,702,924 (GRCm39) |
I3463T |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,855,995 (GRCm39) |
Y289H |
probably damaging |
Het |
| Ints8 |
C |
A |
4: 11,246,097 (GRCm39) |
V190L |
probably benign |
Het |
| Itgb1 |
T |
G |
8: 129,449,335 (GRCm39) |
Y585D |
possibly damaging |
Het |
| Kif14 |
C |
T |
1: 136,396,840 (GRCm39) |
T382I |
probably benign |
Het |
| Lypd10 |
T |
A |
7: 24,412,872 (GRCm39) |
D93E |
probably benign |
Het |
| Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
| Mgat4b |
T |
C |
11: 50,121,908 (GRCm39) |
V143A |
possibly damaging |
Het |
| Mroh2a |
C |
A |
1: 88,183,287 (GRCm39) |
L1292I |
probably damaging |
Het |
| Nek8 |
C |
T |
11: 78,062,033 (GRCm39) |
S237N |
probably benign |
Het |
| Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
| Nfatc2ip |
A |
G |
7: 125,990,507 (GRCm39) |
S165P |
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,611 (GRCm39) |
M196V |
probably benign |
Het |
| Or1e34 |
C |
T |
11: 73,778,656 (GRCm39) |
V181I |
probably benign |
Het |
| Patj |
C |
A |
4: 98,555,885 (GRCm39) |
Q297K |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,542,107 (GRCm39) |
N199S |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,661,565 (GRCm39) |
V1054A |
possibly damaging |
Het |
| Slc17a5 |
G |
A |
9: 78,485,956 (GRCm39) |
A43V |
probably damaging |
Het |
| Spata20 |
T |
A |
11: 94,371,435 (GRCm39) |
D643V |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,655,869 (GRCm39) |
V289E |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,793,890 (GRCm39) |
I384N |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,736,771 (GRCm39) |
M816I |
probably benign |
Het |
| Ulk2 |
T |
C |
11: 61,698,880 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,712,677 (GRCm39) |
V199A |
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 |
|
|
IGL03004:Pip4k2b
|
APN |
11 |
97,615,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTGTACTGGACACTGAGTAACCC -3'
(R):5'- AGGAAAACACCTGCTGTCAGCC -3'
Sequencing Primer
(F):5'- CTTAGGGAACTACTGACTGGCTC -3'
(R):5'- AGCCTCTGGCCCCTATG -3'
|
| Posted On |
2014-08-19 |
Incidental Mutation