Incidental Mutation 'IGL01306:Itpk1'
ID 73451
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itpk1
Ensembl Gene ENSMUSG00000057963
Gene Name inositol 1,3,4-triphosphate 5/6 kinase
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # IGL01306
Quality Score
Status
Chromosome 12
Chromosomal Location 102534842-102671128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102572362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 117 (E117G)
Ref Sequence ENSEMBL: ENSMUSP00000046027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046518] [ENSMUST00000179210] [ENSMUST00000191320]
AlphaFold Q8BYN3
Predicted Effect probably damaging
Transcript: ENSMUST00000046518
AA Change: E117G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963
AA Change: E117G

DomainStartEndE-ValueType
Pfam:Ins134_P3_kin 1 318 2.8e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179210
Predicted Effect probably benign
Transcript: ENSMUST00000191320
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 an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]
PHENOTYPE: Some mice homozygous for a gene trap allele exhibit neural tube defects (exencephaly and spina bifida), growth retardation, kyphoscoliosis, and rib formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Ago4 T C 4: 126,409,677 (GRCm39) probably null Het
Akap12 G T 10: 4,303,273 (GRCm39) A28S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Arfgap3 A G 15: 83,197,710 (GRCm39) Y349H possibly damaging Het
Bltp1 T C 3: 37,059,162 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc13 A T 9: 121,656,429 (GRCm39) M128K probably benign Het
Ccdc38 T C 10: 93,405,797 (GRCm39) probably null Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cpne6 A T 14: 55,752,706 (GRCm39) I299F probably damaging Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fbxw8 C T 5: 118,251,785 (GRCm39) V243M possibly damaging Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gal3st1 A G 11: 3,948,405 (GRCm39) Y204C probably damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or2i1 T C 17: 37,507,833 (GRCm39) N342S probably benign Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Or52z12 T C 7: 103,233,900 (GRCm39) Y224H probably damaging Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Scamp4 C A 10: 80,445,256 (GRCm39) Q34K probably damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Sft2d2 G T 1: 165,011,564 (GRCm39) A110E probably benign Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn2r111 T A 17: 22,787,965 (GRCm39) E462V probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R probably benign Het
Other mutations in Itpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02247:Itpk1 APN 12 102,589,668 (GRCm39) missense probably damaging 1.00
IGL02998:Itpk1 APN 12 102,545,398 (GRCm39) missense probably damaging 1.00
ANU23:Itpk1 UTSW 12 102,572,362 (GRCm39) missense probably damaging 1.00
R0432:Itpk1 UTSW 12 102,572,337 (GRCm39) splice site probably benign
R0622:Itpk1 UTSW 12 102,540,239 (GRCm39) missense probably damaging 1.00
R0659:Itpk1 UTSW 12 102,572,337 (GRCm39) splice site probably benign
R0835:Itpk1 UTSW 12 102,641,707 (GRCm39) missense probably damaging 1.00
R1171:Itpk1 UTSW 12 102,572,378 (GRCm39) missense probably damaging 1.00
R1812:Itpk1 UTSW 12 102,540,317 (GRCm39) missense probably benign 0.01
R1968:Itpk1 UTSW 12 102,641,729 (GRCm39) splice site probably null
R2277:Itpk1 UTSW 12 102,536,519 (GRCm39) missense probably benign
R2926:Itpk1 UTSW 12 102,545,389 (GRCm39) missense probably damaging 1.00
R4584:Itpk1 UTSW 12 102,536,416 (GRCm39) missense possibly damaging 0.89
R4690:Itpk1 UTSW 12 102,572,434 (GRCm39) missense probably damaging 0.96
R5050:Itpk1 UTSW 12 102,671,069 (GRCm39) missense probably damaging 1.00
R5326:Itpk1 UTSW 12 102,540,225 (GRCm39) missense possibly damaging 0.49
R5801:Itpk1 UTSW 12 102,540,204 (GRCm39) missense probably damaging 1.00
R5945:Itpk1 UTSW 12 102,554,812 (GRCm39) missense probably damaging 0.97
R7262:Itpk1 UTSW 12 102,641,712 (GRCm39) missense possibly damaging 0.89
R7421:Itpk1 UTSW 12 102,540,324 (GRCm39) missense possibly damaging 0.92
R7883:Itpk1 UTSW 12 102,572,434 (GRCm39) missense probably benign 0.35
R8438:Itpk1 UTSW 12 102,572,418 (GRCm39) start gained probably benign
R8886:Itpk1 UTSW 12 102,550,604 (GRCm39) unclassified probably benign
R8947:Itpk1 UTSW 12 102,536,582 (GRCm39) missense probably benign 0.10
R9137:Itpk1 UTSW 12 102,540,291 (GRCm39) missense probably benign 0.00
R9716:Itpk1 UTSW 12 102,572,347 (GRCm39) critical splice donor site probably null
X0058:Itpk1 UTSW 12 102,540,283 (GRCm39) missense probably damaging 0.99
Posted On 2013-10-07