Incidental Mutation 'IGL02998:Itpk1'
ID 407197
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 # IGL02998
Quality Score
Status
Chromosome 12
Chromosomal Location 102534842-102671128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102545398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 235 (V235A)
Ref Sequence ENSEMBL: ENSMUSP00000046027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046518]
AlphaFold Q8BYN3
Predicted Effect probably damaging
Transcript: ENSMUST00000046518
AA Change: V235A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963
AA Change: V235A

DomainStartEndE-ValueType
Pfam:Ins134_P3_kin 1 318 2.8e-142 PFAM
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 129,912,862 (GRCm39) A1329V probably benign Het
Bhlha9 G A 11: 76,563,570 (GRCm39) A66T probably damaging Het
Dock10 G A 1: 80,551,259 (GRCm39) R681W probably damaging Het
Dst T C 1: 34,307,356 (GRCm39) L1433P probably damaging Het
Ercc6 A G 14: 32,279,814 (GRCm39) I610V probably benign Het
Fras1 T C 5: 96,850,040 (GRCm39) F1859S possibly damaging Het
Gad1 A G 2: 70,420,163 (GRCm39) Y349C probably damaging Het
Galnt1 T A 18: 24,397,469 (GRCm39) I190N probably damaging Het
Gm28042 G A 2: 119,870,635 (GRCm39) V768I possibly damaging Het
Gm8220 T C 14: 44,525,765 (GRCm39) probably null Het
Higd1a A G 9: 121,678,690 (GRCm39) probably benign Het
Itga4 T A 2: 79,108,165 (GRCm39) Y206N possibly damaging Het
Itpka A G 2: 119,581,242 (GRCm39) Q425R possibly damaging Het
Kpna6 T A 4: 129,549,297 (GRCm39) I162F probably benign Het
Msantd1 A G 5: 35,078,768 (GRCm39) D101G probably damaging Het
Ntrk3 T C 7: 78,227,405 (GRCm39) I43V probably damaging Het
Pias3 G A 3: 96,609,495 (GRCm39) E271K probably damaging Het
Pparg A G 6: 115,440,049 (GRCm39) I178V probably benign Het
Rxfp3 A T 15: 11,037,054 (GRCm39) M106K probably damaging Het
Scn3b G A 9: 40,199,713 (GRCm39) V210M possibly damaging Het
Shisa3 A G 5: 67,765,848 (GRCm39) D33G possibly damaging Het
Suz12 T A 11: 79,920,149 (GRCm39) W570R probably damaging Het
Vmn2r107 A T 17: 20,578,017 (GRCm39) K442M probably damaging Het
Other mutations in Itpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Itpk1 APN 12 102,572,362 (GRCm39) missense probably damaging 1.00
IGL02247:Itpk1 APN 12 102,589,668 (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 2016-08-02