Incidental Mutation 'IGL01774:Itpkc'
ID154034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itpkc
Ensembl Gene ENSMUSG00000003752
Gene Nameinositol 1,4,5-trisphosphate 3-kinase C
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.359) question?
Stock #IGL01774
Quality Score
Status
Chromosome7
Chromosomal Location27207172-27228661 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 27212370 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 592 (A592E)
Ref Sequence ENSEMBL: ENSMUSP00000003850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003850] [ENSMUST00000108379]
Predicted Effect probably benign
Transcript: ENSMUST00000003850
AA Change: A592E

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
AA Change: A592E

DomainStartEndE-ValueType
low complexity region 28 59 N/A INTRINSIC
low complexity region 346 363 N/A INTRINSIC
Pfam:IPK 462 673 3.7e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108379
SMART Domains Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
low complexity region 50 80 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149067
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 inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]
PHENOTYPE: No overt phenotype reported. Thymocyte development was normal in homozygous null mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,477,835 D708G probably damaging Het
Abca16 T C 7: 120,421,801 probably benign Het
Abcc5 T C 16: 20,378,457 D674G probably damaging Het
Abr A G 11: 76,464,299 probably benign Het
Arfgef3 A G 10: 18,743,615 I4T possibly damaging Het
Btla A G 16: 45,250,548 N290S possibly damaging Het
Catip C A 1: 74,368,483 R325S probably damaging Het
Cep120 A G 18: 53,706,830 L786P possibly damaging Het
Cnot8 A G 11: 58,115,307 I221V probably benign Het
Eloc A T 1: 16,645,789 D37E probably benign Het
Fabp12 A C 3: 10,247,694 N89K probably benign Het
Ficd G T 5: 113,739,012 R416L probably damaging Het
Frmd3 T C 4: 74,187,838 Y574H probably damaging Het
Frmd4a T C 2: 4,535,236 probably benign Het
Gatc G A 5: 115,341,017 Q45* probably null Het
Gm5414 T C 15: 101,626,975 D225G probably benign Het
Kl G T 5: 150,988,483 V566L probably benign Het
Lpin1 T A 12: 16,558,476 D545V probably damaging Het
Mtcl1 T C 17: 66,385,885 Y483C probably damaging Het
Neb C T 2: 52,222,970 W67* probably null Het
Nrarp T C 2: 25,181,286 V59A possibly damaging Het
Nuf2 G A 1: 169,506,072 T345M probably benign Het
Olfr659 T C 7: 104,670,942 I80T probably benign Het
Pacs2 T A 12: 113,056,842 H278Q probably benign Het
Pot1a T C 6: 25,753,277 K420R probably benign Het
Rag2 A G 2: 101,630,047 Y234C probably damaging Het
Ralgds C T 2: 28,550,542 Q88* probably null Het
Rictor T C 15: 6,769,777 S365P probably damaging Het
Slco1a1 G A 6: 141,925,613 Q276* probably null Het
Tas2r134 C T 2: 51,628,148 T213I probably benign Het
Tecpr1 A G 5: 144,211,540 I349T probably damaging Het
Tnxb T C 17: 34,688,839 S1286P probably damaging Het
Trafd1 A G 5: 121,375,050 V375A possibly damaging Het
Vmn2r110 T A 17: 20,583,627 I229L probably benign Het
Vnn1 T C 10: 23,900,710 Y320H probably benign Het
Zfp990 T C 4: 145,536,948 V172A probably benign Het
Other mutations in Itpkc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01751:Itpkc APN 7 27213066 unclassified probably benign
IGL02134:Itpkc APN 7 27227875 nonsense probably null
IGL02719:Itpkc APN 7 27228050 missense possibly damaging 0.92
R0284:Itpkc UTSW 7 27214543 nonsense probably null
R0364:Itpkc UTSW 7 27227749 missense possibly damaging 0.80
R0403:Itpkc UTSW 7 27208345 missense probably benign 0.01
R1175:Itpkc UTSW 7 27227770 missense probably benign 0.00
R1676:Itpkc UTSW 7 27208281 missense probably damaging 1.00
R1813:Itpkc UTSW 7 27208380 missense probably damaging 1.00
R1896:Itpkc UTSW 7 27208380 missense probably damaging 1.00
R1944:Itpkc UTSW 7 27227659 missense possibly damaging 0.55
R2142:Itpkc UTSW 7 27219650 missense possibly damaging 0.83
R3030:Itpkc UTSW 7 27212308 splice site probably null
R3738:Itpkc UTSW 7 27227604 missense possibly damaging 0.95
R3739:Itpkc UTSW 7 27227604 missense possibly damaging 0.95
R3754:Itpkc UTSW 7 27228432 missense probably damaging 1.00
R3851:Itpkc UTSW 7 27227612 missense probably benign 0.00
R3852:Itpkc UTSW 7 27227612 missense probably benign 0.00
R3916:Itpkc UTSW 7 27228303 missense probably benign 0.09
R3963:Itpkc UTSW 7 27227509 missense probably damaging 1.00
R5770:Itpkc UTSW 7 27212988 missense probably damaging 1.00
R5943:Itpkc UTSW 7 27212979 missense possibly damaging 0.69
R6012:Itpkc UTSW 7 27228065 missense probably damaging 0.98
R6835:Itpkc UTSW 7 27227815 missense probably benign 0.02
R7107:Itpkc UTSW 7 27228277 missense probably benign 0.15
R7379:Itpkc UTSW 7 27227769 missense probably benign 0.12
Posted On2014-02-04