Incidental Mutation 'IGL00470:Inpp5k'
| ID |
4541 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Inpp5k
|
| Ensembl Gene |
ENSMUSG00000006127 |
| Gene Name |
inositol polyphosphate 5-phosphatase K |
| Synonyms |
C62, PI-5-phosphatase related, putative PI-5-phosphatase, Pps |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75521814-75539697 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75536351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 310
(S310P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006286]
[ENSMUST00000102505]
[ENSMUST00000139856]
[ENSMUST00000150857]
|
| AlphaFold |
Q8C5L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006286
AA Change: S310P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127
AA Change: S310P
| Domain | Start | End | E-Value | Type |
|---|
|
IPPc
|
30 |
345 |
1.03e-148 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102505
|
| SMART Domains |
Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
40 |
732 |
N/A |
SMART |
|
IQ
|
733 |
755 |
3.85e-3 |
SMART |
|
IQ
|
756 |
778 |
2.09e-4 |
SMART |
|
Blast:MYSc
|
786 |
815 |
6e-9 |
BLAST |
|
low complexity region
|
839 |
850 |
N/A |
INTRINSIC |
|
Pfam:Myosin_TH1
|
874 |
1052 |
2.9e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139856
|
| SMART Domains |
Protein: ENSMUSP00000121060
Gene: ENSMUSG00000006127
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IPPc
|
18 |
94 |
4e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149134
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150857
|
| 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 protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous disruption of this gene leads to embryonic lethality. Adult heterozygous mutant mice show normal food intake and adiposity but exhibit enhanced glucose homeostasis and insulin sensitivity, increased insulin action in skeletal muscle, and reduced diet-induced obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732463B04Rik |
G |
T |
12: 84,090,578 (GRCm39) |
|
probably benign |
Het |
| Abcd1 |
T |
C |
X: 72,761,154 (GRCm39) |
L173P |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,118,149 (GRCm39) |
D41V |
probably damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,460 (GRCm39) |
S416T |
probably damaging |
Het |
| Aspa |
T |
G |
11: 73,204,447 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,654 (GRCm39) |
|
probably benign |
Het |
| Cracd |
G |
A |
5: 77,013,903 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,283,229 (GRCm39) |
I3570L |
probably benign |
Het |
| Cyp2j13 |
G |
A |
4: 95,950,275 (GRCm39) |
P242L |
probably damaging |
Het |
| Cysrt1 |
T |
C |
2: 25,129,513 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,414 (GRCm39) |
L2100H |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,589,028 (GRCm39) |
A229T |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,228,043 (GRCm39) |
I1554F |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,349,689 (GRCm39) |
P554L |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,774,511 (GRCm39) |
C28* |
probably null |
Het |
| Gm773 |
T |
C |
X: 55,247,373 (GRCm39) |
D53G |
probably benign |
Het |
| Hhat |
A |
G |
1: 192,399,325 (GRCm39) |
Y272H |
probably damaging |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,944,570 (GRCm39) |
D893G |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,119,738 (GRCm39) |
T709A |
probably benign |
Het |
| Mcm8 |
G |
A |
2: 132,669,457 (GRCm39) |
V281I |
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Nup133 |
T |
G |
8: 124,665,822 (GRCm39) |
D201A |
probably damaging |
Het |
| Oxct2a |
A |
G |
4: 123,217,183 (GRCm39) |
L66P |
possibly damaging |
Het |
| Pcbp2 |
C |
T |
15: 102,399,148 (GRCm39) |
A224V |
probably damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,284,837 (GRCm39) |
H655L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,015,719 (GRCm39) |
S275F |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,130,754 (GRCm38) |
F118L |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,255,631 (GRCm39) |
M706T |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,338,656 (GRCm39) |
M689T |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,754,848 (GRCm39) |
V2008A |
probably damaging |
Het |
| Txndc2 |
A |
T |
17: 65,945,569 (GRCm39) |
S203T |
probably benign |
Het |
| Txnrd1 |
T |
G |
10: 82,711,496 (GRCm39) |
D42E |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,773,249 (GRCm39) |
D1746N |
probably damaging |
Het |
|
| Other mutations in Inpp5k |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Inpp5k
|
APN |
11 |
75,537,646 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL00529:Inpp5k
|
APN |
11 |
75,522,030 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01761:Inpp5k
|
APN |
11 |
75,538,503 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02532:Inpp5k
|
APN |
11 |
75,524,010 (GRCm39) |
unclassified |
probably benign |
|
|
R0081:Inpp5k
|
UTSW |
11 |
75,521,973 (GRCm39) |
frame shift |
probably null |
|
|
R0206:Inpp5k
|
UTSW |
11 |
75,521,969 (GRCm39) |
missense |
probably benign |
|
|
R0206:Inpp5k
|
UTSW |
11 |
75,521,969 (GRCm39) |
missense |
probably benign |
|
|
R0520:Inpp5k
|
UTSW |
11 |
75,530,356 (GRCm39) |
nonsense |
probably null |
|
|
R0841:Inpp5k
|
UTSW |
11 |
75,524,285 (GRCm39) |
unclassified |
probably benign |
|
|
R1145:Inpp5k
|
UTSW |
11 |
75,524,285 (GRCm39) |
unclassified |
probably benign |
|
|
R1433:Inpp5k
|
UTSW |
11 |
75,528,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1605:Inpp5k
|
UTSW |
11 |
75,524,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2144:Inpp5k
|
UTSW |
11 |
75,538,017 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2145:Inpp5k
|
UTSW |
11 |
75,538,017 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2296:Inpp5k
|
UTSW |
11 |
75,530,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3783:Inpp5k
|
UTSW |
11 |
75,538,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3784:Inpp5k
|
UTSW |
11 |
75,538,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3785:Inpp5k
|
UTSW |
11 |
75,538,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3787:Inpp5k
|
UTSW |
11 |
75,538,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5999:Inpp5k
|
UTSW |
11 |
75,523,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6337:Inpp5k
|
UTSW |
11 |
75,537,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6405:Inpp5k
|
UTSW |
11 |
75,524,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9338:Inpp5k
|
UTSW |
11 |
75,536,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation