Incidental Mutation 'R1171:Itpk1'
ID 99455
Institutional Source Beutler Lab
Gene Symbol Itpk1
Ensembl Gene ENSMUSG00000057963
Gene Name inositol 1,3,4-triphosphate 5/6 kinase
Synonyms
MMRRC Submission 039244-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # R1171 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 102534842-102671128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102572378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 112 (L112F)
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: L112F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046027
Gene: ENSMUSG00000057963
AA Change: L112F

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
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.2%
  • 20x: 91.6%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,140,075 (GRCm39) E492V probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atr T C 9: 95,789,376 (GRCm39) F1511L probably damaging Het
Bdkrb2 G T 12: 105,558,416 (GRCm39) R219L probably benign Het
Bhmt2 A T 13: 93,798,837 (GRCm39) M328K probably benign Het
Btbd3 A G 2: 138,125,881 (GRCm39) D286G probably benign Het
Bub1b T G 2: 118,437,167 (GRCm39) L122V probably benign Het
Caml T C 13: 55,772,820 (GRCm39) S155P probably damaging Het
Cfap43 T C 19: 47,824,150 (GRCm39) K74E probably benign Het
Chst4 A G 8: 110,757,255 (GRCm39) S120P probably damaging Het
Col11a1 A G 3: 113,860,213 (GRCm39) D213G unknown Het
Cripto C A 9: 110,772,235 (GRCm39) V54L probably benign Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,495,941 (GRCm39) probably null Het
Cxcl10 CAC CACTAAC 5: 92,495,945 (GRCm39) probably null Het
Cyp26b1 A T 6: 84,553,653 (GRCm39) I167N possibly damaging Het
Dchs1 A G 7: 105,406,921 (GRCm39) S2195P probably benign Het
Ddx25 T A 9: 35,458,142 (GRCm39) K326* probably null Het
Dip2c A T 13: 9,543,162 (GRCm39) Y36F possibly damaging Het
Dock2 T C 11: 34,586,068 (GRCm39) D538G probably damaging Het
E4f1 C T 17: 24,670,523 (GRCm39) D55N probably damaging Het
Emp1 G T 6: 135,358,077 (GRCm39) W141L probably damaging Het
Faim2 T A 15: 99,398,135 (GRCm39) H271L probably benign Het
Fbxw9 T C 8: 85,792,707 (GRCm39) M352T possibly damaging Het
Fcrl2 A T 3: 87,164,167 (GRCm39) F321I probably benign Het
Frzb C T 2: 80,268,834 (GRCm39) probably null Het
Gal3st1 G T 11: 3,948,931 (GRCm39) K379N probably damaging Het
Gm5519 G A 19: 33,800,372 (GRCm39) C22Y possibly damaging Het
Gpn3 T C 5: 122,516,583 (GRCm39) F71L probably benign Het
H2-M9 A G 17: 36,952,545 (GRCm39) V167A probably benign Het
Hars1 A G 18: 36,904,467 (GRCm39) F182L possibly damaging Het
Hid1 T C 11: 115,243,543 (GRCm39) T502A probably benign Het
Hipk3 G T 2: 104,302,021 (GRCm39) T57K probably benign Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Klk1b9 T A 7: 43,443,817 (GRCm39) D110E possibly damaging Het
Lemd3 A T 10: 120,785,246 (GRCm39) M535K possibly damaging Het
Lipg A T 18: 75,078,894 (GRCm39) S453T possibly damaging Het
Lrrc75a A T 11: 62,500,069 (GRCm39) W150R probably damaging Het
Lyg1 T C 1: 37,986,305 (GRCm39) E143G probably damaging Het
Map3k1 A G 13: 111,892,177 (GRCm39) V1026A probably benign Het
Mgat3 T A 15: 80,095,838 (GRCm39) F222I probably benign Het
Mindy4 A T 6: 55,232,601 (GRCm39) N348I possibly damaging Het
Ms4a20 T C 19: 11,089,741 (GRCm39) Y48C probably damaging Het
Myo1b A C 1: 51,817,684 (GRCm39) F532C probably damaging Het
Naif1 T A 2: 32,342,558 (GRCm39) N36K probably damaging Het
Nkpd1 C A 7: 19,258,012 (GRCm39) A597E possibly damaging Het
Npr2 A G 4: 43,647,260 (GRCm39) D772G possibly damaging Het
Or52n4 T G 7: 104,294,204 (GRCm39) D123A probably damaging Het
Or6a2 T C 7: 106,600,791 (GRCm39) N92S probably benign Het
Pcolce2 A T 9: 95,576,793 (GRCm39) M355L probably benign Het
Pdgfra A T 5: 75,334,108 (GRCm39) I394F probably damaging Het
Pdzrn3 G A 6: 101,127,838 (GRCm39) R943C probably damaging Het
Pml A G 9: 58,141,821 (GRCm39) V337A probably damaging Het
Pnpla2 T A 7: 141,038,794 (GRCm39) M321K probably benign Het
Poln A T 5: 34,261,284 (GRCm39) N546K probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prss28 T A 17: 25,529,029 (GRCm39) F123L possibly damaging Het
Psg18 A G 7: 18,080,004 (GRCm39) V399A probably benign Het
Rab5a T C 17: 53,813,443 (GRCm39) C212R probably damaging Het
Ranbp6 A T 19: 29,789,679 (GRCm39) D224E probably benign Het
Recql4 T C 15: 76,588,239 (GRCm39) I1104M possibly damaging Het
Rev1 A T 1: 38,127,581 (GRCm39) N226K possibly damaging Het
Rhbdl3 T A 11: 80,244,418 (GRCm39) V375E possibly damaging Het
Senp6 T A 9: 80,024,007 (GRCm39) N423K possibly damaging Het
Sertad2 C G 11: 20,598,091 (GRCm39) L96V probably benign Het
Slc33a1 T A 3: 63,861,315 (GRCm39) T296S probably benign Het
Smurf2 G A 11: 106,743,444 (GRCm39) P188S possibly damaging Het
Spta1 T A 1: 174,039,180 (GRCm39) Y1174* probably null Het
Stra6l A T 4: 45,864,982 (GRCm39) T103S probably benign Het
Swt1 C T 1: 151,281,272 (GRCm39) A352T probably damaging Het
Thoc2l T C 5: 104,668,769 (GRCm39) V1097A possibly damaging Het
Tigd2 T A 6: 59,188,361 (GRCm39) N409K possibly damaging Het
Tlr6 G T 5: 65,112,593 (GRCm39) H105N probably benign Het
Tmprss9 A C 10: 80,715,692 (GRCm39) T15P possibly damaging Het
Tnik C T 3: 28,587,089 (GRCm39) T120M probably damaging Het
Tnr T A 1: 159,685,780 (GRCm39) I337N probably damaging Het
Top3a A G 11: 60,641,419 (GRCm39) Y422H probably benign Het
Trim67 A G 8: 125,555,820 (GRCm39) N768S probably damaging Het
Ttn A G 2: 76,536,310 (GRCm39) V35016A probably benign Het
Utrn A C 10: 12,357,052 (GRCm39) S312R probably damaging Het
Vdac2 A G 14: 21,887,879 (GRCm39) Y62C probably damaging Het
Vwa5b2 A G 16: 20,423,734 (GRCm39) T1216A probably benign Het
Wfdc16 T C 2: 164,480,403 (GRCm39) K31E possibly damaging Het
Wtip C T 7: 33,824,921 (GRCm39) C221Y probably damaging Het
Xrn1 A G 9: 95,873,064 (GRCm39) D640G possibly damaging Het
Zdhhc5 T C 2: 84,522,685 (GRCm39) R293G probably benign Het
Zfp536 T C 7: 37,269,059 (GRCm39) D119G probably damaging Het
Zfp81 T C 17: 33,554,254 (GRCm39) T187A probably benign Het
Zfp810 C T 9: 22,190,122 (GRCm39) G262D possibly damaging Het
Zfp963 A C 8: 70,195,669 (GRCm39) I203M possibly damaging Het
Zfpm2 T C 15: 40,965,075 (GRCm39) M520T probably damaging Het
Zswim8 G A 14: 20,763,181 (GRCm39) R360Q possibly damaging Het
Zwilch T A 9: 64,065,999 (GRCm39) H254L possibly 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
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
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
Predicted Primers
Posted On 2014-01-15