Incidental Mutation 'IGL02998:Itpk1'
ID407197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itpk1
Ensembl Gene ENSMUSG00000057963
Gene Nameinositol 1,3,4-triphosphate 5/6 kinase
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.926) question?
Stock #IGL02998
Quality Score
Status
Chromosome12
Chromosomal Location102568582-102704930 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102579139 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 235 (V235A)
Ref Sequence ENSEMBL: ENSMUSP00000046027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046518]
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: 130,019,069 A1329V probably benign Het
Bhlha9 G A 11: 76,672,744 A66T probably damaging Het
Dock10 G A 1: 80,573,542 R681W probably damaging Het
Dst T C 1: 34,268,275 L1433P probably damaging Het
Ercc6 A G 14: 32,557,857 I610V probably benign Het
Fras1 T C 5: 96,702,181 F1859S possibly damaging Het
Gad1 A G 2: 70,589,819 Y349C probably damaging Het
Galnt1 T A 18: 24,264,412 I190N probably damaging Het
Gm28042 G A 2: 120,040,154 V768I possibly damaging Het
Gm8220 T C 14: 44,288,308 probably null Het
Higd1a A G 9: 121,849,624 probably benign Het
Itga4 T A 2: 79,277,821 Y206N possibly damaging Het
Itpka A G 2: 119,750,761 Q425R possibly damaging Het
Kpna6 T A 4: 129,655,504 I162F probably benign Het
Msantd1 A G 5: 34,921,424 D101G probably damaging Het
Ntrk3 T C 7: 78,577,657 I43V probably damaging Het
Pias3 G A 3: 96,702,179 E271K probably damaging Het
Pparg A G 6: 115,463,088 I178V probably benign Het
Rxfp3 A T 15: 11,036,968 M106K probably damaging Het
Scn3b G A 9: 40,288,417 V210M possibly damaging Het
Shisa3 A G 5: 67,608,505 D33G possibly damaging Het
Suz12 T A 11: 80,029,323 W570R probably damaging Het
Vmn2r107 A T 17: 20,357,755 K442M probably damaging Het
Other mutations in Itpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Itpk1 APN 12 102606103 missense probably damaging 1.00
IGL02247:Itpk1 APN 12 102623409 missense probably damaging 1.00
ANU23:Itpk1 UTSW 12 102606103 missense probably damaging 1.00
R0432:Itpk1 UTSW 12 102606078 splice site probably benign
R0622:Itpk1 UTSW 12 102573980 missense probably damaging 1.00
R0659:Itpk1 UTSW 12 102606078 splice site probably benign
R0835:Itpk1 UTSW 12 102675448 missense probably damaging 1.00
R1171:Itpk1 UTSW 12 102606119 missense probably damaging 1.00
R1812:Itpk1 UTSW 12 102574058 missense probably benign 0.01
R1968:Itpk1 UTSW 12 102675470 splice site probably null
R2277:Itpk1 UTSW 12 102570260 missense probably benign
R2926:Itpk1 UTSW 12 102579130 missense probably damaging 1.00
R4584:Itpk1 UTSW 12 102570157 missense possibly damaging 0.89
R4690:Itpk1 UTSW 12 102606175 missense probably damaging 0.96
R5050:Itpk1 UTSW 12 102704810 missense probably damaging 1.00
R5326:Itpk1 UTSW 12 102573966 missense possibly damaging 0.49
R5801:Itpk1 UTSW 12 102573945 missense probably damaging 1.00
R5945:Itpk1 UTSW 12 102588553 missense probably damaging 0.97
R7262:Itpk1 UTSW 12 102675453 missense possibly damaging 0.89
R7421:Itpk1 UTSW 12 102574065 missense possibly damaging 0.92
R7883:Itpk1 UTSW 12 102606175 missense probably benign 0.35
R8438:Itpk1 UTSW 12 102606159 start gained probably benign
X0058:Itpk1 UTSW 12 102574024 missense probably damaging 0.99
Posted On2016-08-02