Incidental Mutation 'IGL01774:Itpkc'
ID 154034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itpkc
Ensembl Gene ENSMUSG00000003752
Gene Name inositol 1,4,5-trisphosphate 3-kinase C
Synonyms 9130023N17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # IGL01774
Quality Score
Status
Chromosome 7
Chromosomal Location 26906595-26928042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 26911795 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q7TS72
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: 120,077,058 (GRCm39) D708G probably damaging Het
Abca16 T C 7: 120,021,024 (GRCm39) probably benign Het
Abcc5 T C 16: 20,197,207 (GRCm39) D674G probably damaging Het
Abr A G 11: 76,355,125 (GRCm39) probably benign Het
Arfgef3 A G 10: 18,619,363 (GRCm39) I4T possibly damaging Het
Btla A G 16: 45,070,911 (GRCm39) N290S possibly damaging Het
Catip C A 1: 74,407,642 (GRCm39) R325S probably damaging Het
Cep120 A G 18: 53,839,902 (GRCm39) L786P possibly damaging Het
Cnot8 A G 11: 58,006,133 (GRCm39) I221V probably benign Het
Eloc A T 1: 16,716,013 (GRCm39) D37E probably benign Het
Fabp12 A C 3: 10,312,754 (GRCm39) N89K probably benign Het
Ficd G T 5: 113,877,073 (GRCm39) R416L probably damaging Het
Frmd3 T C 4: 74,106,075 (GRCm39) Y574H probably damaging Het
Frmd4a T C 2: 4,540,047 (GRCm39) probably benign Het
Gatc G A 5: 115,479,076 (GRCm39) Q45* probably null Het
Gm5414 T C 15: 101,535,410 (GRCm39) D225G probably benign Het
Kl G T 5: 150,911,948 (GRCm39) V566L probably benign Het
Lpin1 T A 12: 16,608,477 (GRCm39) D545V probably damaging Het
Mtcl1 T C 17: 66,692,880 (GRCm39) Y483C probably damaging Het
Neb C T 2: 52,112,982 (GRCm39) W67* probably null Het
Nrarp T C 2: 25,071,298 (GRCm39) V59A possibly damaging Het
Nuf2 G A 1: 169,333,641 (GRCm39) T345M probably benign Het
Or52n20 T C 7: 104,320,149 (GRCm39) I80T probably benign Het
Pacs2 T A 12: 113,020,462 (GRCm39) H278Q probably benign Het
Pot1a T C 6: 25,753,276 (GRCm39) K420R probably benign Het
Rag2 A G 2: 101,460,392 (GRCm39) Y234C probably damaging Het
Ralgds C T 2: 28,440,554 (GRCm39) Q88* probably null Het
Rictor T C 15: 6,799,258 (GRCm39) S365P probably damaging Het
Slco1a1 G A 6: 141,871,339 (GRCm39) Q276* probably null Het
Tas2r134 C T 2: 51,518,160 (GRCm39) T213I probably benign Het
Tecpr1 A G 5: 144,148,358 (GRCm39) I349T probably damaging Het
Tnxb T C 17: 34,907,813 (GRCm39) S1286P probably damaging Het
Trafd1 A G 5: 121,513,113 (GRCm39) V375A possibly damaging Het
Vmn2r110 T A 17: 20,803,889 (GRCm39) I229L probably benign Het
Vnn1 T C 10: 23,776,608 (GRCm39) Y320H probably benign Het
Zfp990 T C 4: 145,263,518 (GRCm39) V172A probably benign Het
Other mutations in Itpkc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01751:Itpkc APN 7 26,912,491 (GRCm39) unclassified probably benign
IGL02134:Itpkc APN 7 26,927,300 (GRCm39) nonsense probably null
IGL02719:Itpkc APN 7 26,927,475 (GRCm39) missense possibly damaging 0.92
R0284:Itpkc UTSW 7 26,913,968 (GRCm39) nonsense probably null
R0364:Itpkc UTSW 7 26,927,174 (GRCm39) missense possibly damaging 0.80
R0403:Itpkc UTSW 7 26,907,770 (GRCm39) missense probably benign 0.01
R1175:Itpkc UTSW 7 26,927,195 (GRCm39) missense probably benign 0.00
R1676:Itpkc UTSW 7 26,907,706 (GRCm39) missense probably damaging 1.00
R1813:Itpkc UTSW 7 26,907,805 (GRCm39) missense probably damaging 1.00
R1896:Itpkc UTSW 7 26,907,805 (GRCm39) missense probably damaging 1.00
R1944:Itpkc UTSW 7 26,927,084 (GRCm39) missense possibly damaging 0.55
R2142:Itpkc UTSW 7 26,919,075 (GRCm39) missense possibly damaging 0.83
R3030:Itpkc UTSW 7 26,911,733 (GRCm39) splice site probably null
R3738:Itpkc UTSW 7 26,927,029 (GRCm39) missense possibly damaging 0.95
R3739:Itpkc UTSW 7 26,927,029 (GRCm39) missense possibly damaging 0.95
R3754:Itpkc UTSW 7 26,927,857 (GRCm39) missense probably damaging 1.00
R3851:Itpkc UTSW 7 26,927,037 (GRCm39) missense probably benign 0.00
R3852:Itpkc UTSW 7 26,927,037 (GRCm39) missense probably benign 0.00
R3916:Itpkc UTSW 7 26,927,728 (GRCm39) missense probably benign 0.09
R3963:Itpkc UTSW 7 26,926,934 (GRCm39) missense probably damaging 1.00
R5770:Itpkc UTSW 7 26,912,413 (GRCm39) missense probably damaging 1.00
R5943:Itpkc UTSW 7 26,912,404 (GRCm39) missense possibly damaging 0.69
R6012:Itpkc UTSW 7 26,927,490 (GRCm39) missense probably damaging 0.98
R6835:Itpkc UTSW 7 26,927,240 (GRCm39) missense probably benign 0.02
R7107:Itpkc UTSW 7 26,927,702 (GRCm39) missense probably benign 0.15
R7379:Itpkc UTSW 7 26,927,194 (GRCm39) missense probably benign 0.12
R8305:Itpkc UTSW 7 26,913,944 (GRCm39) missense probably damaging 1.00
R8365:Itpkc UTSW 7 26,911,777 (GRCm39) missense probably damaging 1.00
R9216:Itpkc UTSW 7 26,927,429 (GRCm39) missense probably benign 0.19
R9634:Itpkc UTSW 7 26,913,880 (GRCm39) missense probably benign 0.29
R9764:Itpkc UTSW 7 26,927,222 (GRCm39) missense probably benign 0.00
Z1176:Itpkc UTSW 7 26,927,063 (GRCm39) missense probably benign 0.01
Z1177:Itpkc UTSW 7 26,927,206 (GRCm39) frame shift probably null
Posted On 2014-02-04