Incidental Mutation 'IGL01484:Itpa'
ID88846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itpa
Ensembl Gene ENSMUSG00000074797
Gene Nameinosine triphosphatase (nucleoside triphosphate pyrophosphatase)
Synonyms2010016I08Rik, Itp
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01484
Quality Score
Status
Chromosome2
Chromosomal Location130667610-130681614 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 130672099 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 77 (F77L)
Ref Sequence ENSEMBL: ENSMUSP00000099482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103193]
Predicted Effect probably benign
Transcript: ENSMUST00000103193
AA Change: F77L

PolyPhen 2 Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099482
Gene: ENSMUSG00000074797
AA Change: F77L

DomainStartEndE-ValueType
Pfam:Ham1p_like 10 188 4.3e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156382
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 inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial perinatal lethality and complete postnatal lethality with postnatal growth retardation, abnormal heart morphology and function, ataxia, and immature hair follicles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,629,006 H90R possibly damaging Het
Arsj A G 3: 126,365,036 D88G probably damaging Het
Clca4b C T 3: 144,928,235 V140I probably benign Het
Dagla A C 19: 10,248,520 L760R possibly damaging Het
Dnah1 T C 14: 31,299,940 E1202G probably damaging Het
Hdac9 T C 12: 34,437,165 H100R probably damaging Het
Hhip T C 8: 79,996,783 H414R probably damaging Het
Hk2 G A 6: 82,736,730 T457M probably damaging Het
Iapp A G 6: 142,303,439 T73A possibly damaging Het
Ifit1 A G 19: 34,648,843 N460D probably damaging Het
Knop1 T C 7: 118,852,809 D229G probably damaging Het
Lrrc32 T C 7: 98,494,235 I5T probably damaging Het
Myo7a C T 7: 98,085,422 V622M probably damaging Het
N4bp1 T C 8: 86,844,772 E866G probably damaging Het
Olfr330 A T 11: 58,529,396 W197R probably benign Het
Palmd G A 3: 116,953,145 probably benign Het
Pcbp4 A G 9: 106,460,649 probably null Het
Pigf T C 17: 87,008,880 I157V probably benign Het
Pot1b G A 17: 55,695,160 T138M possibly damaging Het
Prl7a2 T A 13: 27,659,208 D204V probably damaging Het
Rfc3 A T 5: 151,642,936 D349E probably benign Het
Sarm1 A T 11: 78,491,013 C215S probably damaging Het
Serpine1 T C 5: 137,063,472 probably benign Het
Strip1 A G 3: 107,613,259 V825A probably damaging Het
Stx12 A G 4: 132,884,362 S2P probably damaging Het
Sycp1 A C 3: 102,915,867 S311R probably benign Het
Tfpi A T 2: 84,444,825 C139* probably null Het
Tmc5 T A 7: 118,656,787 I695N probably damaging Het
Tmem169 T C 1: 72,301,104 V231A probably damaging Het
Ttbk2 T G 2: 120,739,833 S1211R possibly damaging Het
Ubr3 C T 2: 70,021,544 R1855* probably null Het
Urb1 A T 16: 90,777,560 S878T probably benign Het
Vmn1r174 T A 7: 23,754,324 Y138* probably null Het
Zfp282 A G 6: 47,890,120 N214D possibly damaging Het
Other mutations in Itpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03202:Itpa APN 2 130667939 unclassified probably benign
R0110:Itpa UTSW 2 130679418 splice site probably benign
R3872:Itpa UTSW 2 130681010 missense probably damaging 1.00
R3873:Itpa UTSW 2 130681010 missense probably damaging 1.00
R3874:Itpa UTSW 2 130681010 missense probably damaging 1.00
R7768:Itpa UTSW 2 130667916 missense probably damaging 1.00
R8708:Itpa UTSW 2 130675719 missense probably damaging 0.97
Posted On2013-11-18