Incidental Mutation 'IGL03202:Itpa'
ID 413036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itpa
Ensembl Gene ENSMUSG00000074797
Gene Name inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
Synonyms Itp, 2010016I08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03202
Quality Score
Status
Chromosome 2
Chromosomal Location 130509530-130523534 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 130509859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089559] [ENSMUST00000103193] [ENSMUST00000135072]
AlphaFold Q9D892
Predicted Effect probably benign
Transcript: ENSMUST00000089559
SMART Domains Protein: ENSMUSP00000086988
Gene: ENSMUSG00000068290

DomainStartEndE-ValueType
transmembrane domain 4 21 N/A INTRINSIC
low complexity region 60 75 N/A INTRINSIC
low complexity region 76 85 N/A INTRINSIC
DDRGK 116 304 8.35e-113 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103193
SMART Domains Protein: ENSMUSP00000099482
Gene: ENSMUSG00000074797

DomainStartEndE-ValueType
Pfam:Ham1p_like 10 188 4.3e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133328
Predicted Effect probably benign
Transcript: ENSMUST00000135072
SMART Domains Protein: ENSMUSP00000121190
Gene: ENSMUSG00000068290

DomainStartEndE-ValueType
low complexity region 11 19 N/A INTRINSIC
coiled coil region 20 52 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138963
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 86,909,911 (GRCm39) M1T probably null Het
Ace T A 11: 105,867,788 (GRCm39) I168N probably damaging Het
Actr10 T G 12: 70,987,605 (GRCm39) C37W probably damaging Het
Atp10b T C 11: 43,125,268 (GRCm39) probably null Het
Bend5 A G 4: 111,290,441 (GRCm39) N146D possibly damaging Het
Cacna1b A G 2: 24,541,124 (GRCm39) F1347L probably damaging Het
Crybg3 T A 16: 59,315,072 (GRCm39) I2910F probably damaging Het
Cspg4 T C 9: 56,805,023 (GRCm39) S1945P possibly damaging Het
Cxcr4 T G 1: 128,516,641 (GRCm39) K340T probably damaging Het
Dnah6 T A 6: 73,121,683 (GRCm39) Y1433F probably damaging Het
Eif2ak4 T C 2: 118,231,101 (GRCm39) V77A probably damaging Het
Fscn3 A T 6: 28,434,451 (GRCm39) H342L probably benign Het
Gm9843 T C 16: 76,200,234 (GRCm39) noncoding transcript Het
Hdac9 T C 12: 34,423,950 (GRCm39) E520G probably damaging Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Lce1l A T 3: 92,757,631 (GRCm39) C76S unknown Het
Lin54 A G 5: 100,623,673 (GRCm39) S55P possibly damaging Het
Lrrc37 T A 11: 103,506,199 (GRCm39) E1923V probably benign Het
Mtfmt C A 9: 65,356,008 (GRCm39) P303Q probably damaging Het
Nae1 A T 8: 105,244,811 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,983,011 (GRCm39) probably benign Het
Or13a19 A G 7: 139,903,019 (GRCm39) M136V possibly damaging Het
Or1e22 G A 11: 73,377,351 (GRCm39) Q100* probably null Het
Pcnx2 A C 8: 126,498,783 (GRCm39) I1572S probably damaging Het
Piezo2 A T 18: 63,144,669 (GRCm39) Y2809N probably damaging Het
Pygl G T 12: 70,246,420 (GRCm39) Q376K probably benign Het
Resf1 G A 6: 149,227,937 (GRCm39) V328I probably benign Het
Rrp12 T C 19: 41,857,205 (GRCm39) probably null Het
Sephs1 A T 2: 4,894,074 (GRCm39) I92F possibly damaging Het
Taar4 T C 10: 23,836,692 (GRCm39) F101L probably damaging Het
Tenm2 A G 11: 35,915,375 (GRCm39) I2053T probably damaging Het
Tgfbr3 T G 5: 107,257,630 (GRCm39) probably benign Het
Vmn2r108 A T 17: 20,691,319 (GRCm39) Y401* probably null Het
Vmn2r87 A G 10: 130,333,091 (GRCm39) M53T probably benign Het
Zfp941 A G 7: 140,392,966 (GRCm39) V131A probably benign Het
Other mutations in Itpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Itpa APN 2 130,514,019 (GRCm39) missense probably benign 0.14
R0110:Itpa UTSW 2 130,521,338 (GRCm39) splice site probably benign
R3872:Itpa UTSW 2 130,522,930 (GRCm39) missense probably damaging 1.00
R3873:Itpa UTSW 2 130,522,930 (GRCm39) missense probably damaging 1.00
R3874:Itpa UTSW 2 130,522,930 (GRCm39) missense probably damaging 1.00
R7768:Itpa UTSW 2 130,509,836 (GRCm39) missense probably damaging 1.00
R8708:Itpa UTSW 2 130,517,639 (GRCm39) missense probably damaging 0.97
R9089:Itpa UTSW 2 130,509,857 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02