Incidental Mutation 'IGL01761:Inpp5k'
ID153564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inpp5k
Ensembl Gene ENSMUSG00000006127
Gene Nameinositol polyphosphate 5-phosphatase K
Synonymsputative PI-5-phosphatase, PI-5-phosphatase related, C62, Pps
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01761
Quality Score
Status
Chromosome11
Chromosomal Location75630988-75648871 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 75647677 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 102 (E102G)
Ref Sequence ENSEMBL: ENSMUSP00000121060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006286] [ENSMUST00000069057] [ENSMUST00000102504] [ENSMUST00000102505] [ENSMUST00000139856] [ENSMUST00000150857]
Predicted Effect possibly damaging
Transcript: ENSMUST00000006286
AA Change: E458G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000006286
Gene: ENSMUSG00000006127
AA Change: E458G

DomainStartEndE-ValueType
IPPc 30 345 1.03e-148 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069057
SMART Domains Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774

DomainStartEndE-ValueType
MYSc 5 697 N/A SMART
IQ 698 720 3.85e-3 SMART
IQ 721 743 2.09e-4 SMART
Blast:MYSc 751 780 5e-9 BLAST
low complexity region 804 815 N/A INTRINSIC
Pfam:Myosin_TH1 838 1024 1.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102504
SMART Domains Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774

DomainStartEndE-ValueType
MYSc 5 697 N/A SMART
IQ 698 720 3.85e-3 SMART
IQ 721 743 2.09e-4 SMART
Blast:MYSc 751 780 5e-9 BLAST
low complexity region 804 815 N/A INTRINSIC
Pfam:Myosin_TH1 838 1024 1.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102505
SMART Domains Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000139856
AA Change: E102G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121060
Gene: ENSMUSG00000006127
AA Change: E102G

DomainStartEndE-ValueType
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T C 17: 36,978,807 T44A probably damaging Het
A2ml1 T A 6: 128,546,337 Q1212L possibly damaging Het
A530064D06Rik T C 17: 48,152,959 S190G possibly damaging Het
AA986860 A G 1: 130,742,722 H227R possibly damaging Het
Ace C A 11: 105,979,493 A826E possibly damaging Het
Amigo3 G A 9: 108,053,402 G8D possibly damaging Het
Angpt1 A T 15: 42,476,467 F283I possibly damaging Het
Arhgef5 T C 6: 43,274,604 L763P probably benign Het
Atr T C 9: 95,951,448 probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
C4b T A 17: 34,739,938 M506L possibly damaging Het
Cdc25a T C 9: 109,891,865 probably benign Het
Dcaf17 T C 2: 71,056,537 S57P probably damaging Het
Dph5 T A 3: 115,899,713 D93E probably damaging Het
Fam169a A G 13: 97,091,918 E33G possibly damaging Het
Fam193b G A 13: 55,549,257 T340I probably benign Het
Glod4 T C 11: 76,243,602 N15D probably benign Het
Kif27 A T 13: 58,337,645 D500E probably benign Het
Lmntd1 A G 6: 145,433,722 I15T possibly damaging Het
Lrp2 C T 2: 69,481,235 R2633H possibly damaging Het
Lrp4 G A 2: 91,481,981 probably null Het
Lrrc3b A C 14: 15,358,098 N169K probably benign Het
March7 T C 2: 60,234,195 S272P probably benign Het
Mier2 A G 10: 79,548,352 probably null Het
Myo9b G A 8: 71,349,152 S1307N probably damaging Het
Olfr1220 G T 2: 89,097,544 P128T probably damaging Het
Olfr494 T G 7: 108,368,318 V276G probably damaging Het
Phkb A T 8: 86,019,064 M629L probably benign Het
Rergl C A 6: 139,501,865 V4F probably damaging Het
Rgs22 A T 15: 36,103,751 I188N probably damaging Het
Rgs3 G T 4: 62,652,709 probably benign Het
Rpl4 T A 9: 64,174,939 V40D probably damaging Het
Sox4 A T 13: 28,952,807 I72N possibly damaging Het
Syne1 A C 10: 5,405,456 V375G probably damaging Het
Tfrc G T 16: 32,628,551 D662Y probably damaging Het
Ubqln5 T C 7: 104,128,427 R397G possibly damaging Het
Unc13d T C 11: 116,073,869 D257G probably damaging Het
Vmn1r160 A T 7: 22,871,443 N74Y probably damaging Het
Vmn1r168 T A 7: 23,541,645 I309N possibly damaging Het
Vmn1r20 T C 6: 57,431,740 L17P probably damaging Het
Wdr19 A G 5: 65,215,820 I142V possibly damaging Het
Zan A T 5: 137,425,597 I2680N unknown Het
Zbtb20 T C 16: 43,610,661 F512L possibly damaging Het
Other mutations in Inpp5k
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Inpp5k APN 11 75646820 missense possibly damaging 0.72
IGL00470:Inpp5k APN 11 75645525 missense probably benign 0.00
IGL00529:Inpp5k APN 11 75631204 unclassified probably benign
IGL02532:Inpp5k APN 11 75633184 unclassified probably benign
R0081:Inpp5k UTSW 11 75631147 frame shift probably null
R0206:Inpp5k UTSW 11 75631143 missense probably benign
R0206:Inpp5k UTSW 11 75631143 missense probably benign
R0520:Inpp5k UTSW 11 75639530 nonsense probably null
R0841:Inpp5k UTSW 11 75633459 unclassified probably benign
R1145:Inpp5k UTSW 11 75633459 unclassified probably benign
R1433:Inpp5k UTSW 11 75637491 missense probably benign 0.00
R1605:Inpp5k UTSW 11 75633481 missense probably benign 0.00
R2144:Inpp5k UTSW 11 75647191 critical splice acceptor site probably null
R2145:Inpp5k UTSW 11 75647191 critical splice acceptor site probably null
R2296:Inpp5k UTSW 11 75639487 missense probably damaging 1.00
R3783:Inpp5k UTSW 11 75647686 missense probably damaging 0.99
R3784:Inpp5k UTSW 11 75647686 missense probably damaging 0.99
R3785:Inpp5k UTSW 11 75647686 missense probably damaging 0.99
R3787:Inpp5k UTSW 11 75647686 missense probably damaging 0.99
R5999:Inpp5k UTSW 11 75633100 missense probably damaging 0.99
R6337:Inpp5k UTSW 11 75646814 missense probably damaging 1.00
R6405:Inpp5k UTSW 11 75633178 critical splice donor site probably null
Posted On2014-02-04