Incidental Mutation 'IGL02247:Itpk1'
ID286234
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: 0.928) question?
Stock #IGL02247
Quality Score
Status
Chromosome12
Chromosomal Location102568582-102704930 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 102623409 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 74 (P74Q)
Ref Sequence ENSEMBL: ENSMUSP00000137275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046518] [ENSMUST00000178697] [ENSMUST00000179210] [ENSMUST00000191320]
Predicted Effect probably damaging
Transcript: ENSMUST00000046518
AA Change: P46Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963
AA Change: P46Q

DomainStartEndE-ValueType
Pfam:Ins134_P3_kin 1 318 2.8e-142 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178697
AA Change: P74Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137275
Gene: ENSMUSG00000057963
AA Change: P74Q

DomainStartEndE-ValueType
Pfam:Ins134_P3_kin 1 48 1.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178938
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 27,084,893 R177G probably damaging Het
Ap3b1 T C 13: 94,394,795 probably null Het
Ascc3 A C 10: 50,650,590 K595T probably damaging Het
Cnpy4 A G 5: 138,192,863 T234A probably benign Het
Col13a1 T C 10: 61,961,345 Y101C probably damaging Het
Crybg3 A G 16: 59,503,150 I2809T probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dgkz T C 2: 91,937,460 S824G probably benign Het
Dsg1c T A 18: 20,264,316 I27N probably damaging Het
Efhb C T 17: 53,401,624 V673I probably benign Het
Egr1 T C 18: 34,862,863 Y233H possibly damaging Het
Fam184a T C 10: 53,675,160 E237G probably damaging Het
Galt A G 4: 41,755,623 probably benign Het
Gm4795 T C 10: 45,007,115 noncoding transcript Het
Gm6563 G A 19: 23,676,028 E61K possibly damaging Het
Igkv1-133 G A 6: 67,725,606 V103M probably damaging Het
Iqcb1 T A 16: 36,839,896 H140Q probably benign Het
Itpr3 T A 17: 27,098,179 W803R probably damaging Het
Lgr4 C T 2: 110,008,075 probably benign Het
Lgr4 A T 2: 110,002,501 D312V probably benign Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mllt6 C A 11: 97,670,332 A282E probably benign Het
Mtif2 T C 11: 29,540,642 S449P possibly damaging Het
Nrg3 T C 14: 38,371,312 I533M probably damaging Het
Nynrin C T 14: 55,871,710 Q1425* probably null Het
Olfr1148 A G 2: 87,833,529 I163M probably damaging Het
Olfr1184 C T 2: 88,487,427 H232Y probably benign Het
Olfr1469 T A 19: 13,411,467 S299R probably benign Het
Olfr397 A T 11: 73,964,862 M85L probably benign Het
Olfr679 T A 7: 105,086,323 Y202* probably null Het
Olfr733 T A 14: 50,299,114 N65I probably damaging Het
Olfr869 G A 9: 20,137,220 V35I probably benign Het
Plcb4 C T 2: 135,994,325 T20I possibly damaging Het
Ppp1r12b G T 1: 134,835,983 T771K probably benign Het
Prss22 T C 17: 23,996,389 T138A probably benign Het
Ros1 A T 10: 52,129,581 S907T probably damaging Het
Rtel1 T A 2: 181,351,341 Y521* probably null Het
Sacs T C 14: 61,192,535 F678S probably damaging Het
Smtnl1 A T 2: 84,817,028 probably benign Het
Sumf2 T C 5: 129,860,145 V258A probably damaging Het
Tas1r2 A T 4: 139,669,516 Y722F probably damaging Het
Tecpr1 A G 5: 144,206,554 F668L possibly damaging Het
Timd4 T C 11: 46,815,731 F120S probably damaging Het
Tnnt3 T C 7: 142,508,325 probably benign Het
Trp53bp1 G A 2: 121,236,589 S552F probably damaging Het
Txlnb G A 10: 17,830,342 R333Q possibly damaging Het
Txlnb A G 10: 17,841,528 probably benign Het
Uroc1 A G 6: 90,347,928 E461G probably benign Het
Vps45 G A 3: 96,042,924 T231I probably damaging Het
Zfp648 T A 1: 154,204,177 S27R probably benign Het
Other mutations in Itpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Itpk1 APN 12 102606103 missense probably damaging 1.00
IGL02998:Itpk1 APN 12 102579139 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 On2015-04-16