Incidental Mutation 'IGL02621:Hint1'
ID 300877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hint1
Ensembl Gene ENSMUSG00000020267
Gene Name histidine triad nucleotide binding protein 1
Synonyms PRKCNH1, PKCI-1, PKC inhibitor/ interacting protein, protein kinase C inhibitor 1, Ipk1
Accession Numbers
Essential gene? Not available question?
Stock # IGL02621
Quality Score
Status
Chromosome 11
Chromosomal Location 54757209-54761327 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) G to T at 54761011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020504] [ENSMUST00000117710]
AlphaFold P70349
Predicted Effect probably benign
Transcript: ENSMUST00000020504
SMART Domains Protein: ENSMUSP00000020504
Gene: ENSMUSG00000020267

DomainStartEndE-ValueType
Pfam:DcpS_C 16 123 3.9e-29 PFAM
Pfam:HIT 24 121 7.3e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117710
SMART Domains Protein: ENSMUSP00000114037
Gene: ENSMUSG00000020267

DomainStartEndE-ValueType
Pfam:DcpS_C 16 78 7.6e-16 PFAM
Pfam:HIT 24 84 4.7e-17 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 a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutant animals do not exhibit an overt phenotype, though one line of mutant mice was shown to be more susceptible to carcinogen-induced tumors than wild-type. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik C A 12: 3,476,688 (GRCm39) probably benign Het
2210408I21Rik T C 13: 77,408,150 (GRCm39) I159T possibly damaging Het
Agpat3 T A 10: 78,120,900 (GRCm39) I93F probably damaging Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Atr G A 9: 95,790,453 (GRCm39) A1598T probably benign Het
Bltp1 T A 3: 37,095,633 (GRCm39) probably benign Het
Clk1 T C 1: 58,453,614 (GRCm39) D324G probably damaging Het
Cntnap4 A T 8: 113,537,355 (GRCm39) D742V probably damaging Het
Esrrb A G 12: 86,468,735 (GRCm39) N16S probably benign Het
Grm1 A T 10: 10,564,755 (GRCm39) Y1184* probably null Het
Itch A T 2: 155,014,504 (GRCm39) probably null Het
Lmod3 T C 6: 97,215,796 (GRCm39) probably benign Het
Map3k4 C A 17: 12,482,900 (GRCm39) A606S probably damaging Het
Mapk4 A T 18: 74,103,346 (GRCm39) S54R probably damaging Het
Megf11 A G 9: 64,601,214 (GRCm39) D807G probably benign Het
Mgat5 A G 1: 127,325,326 (GRCm39) T398A possibly damaging Het
Nme8 T G 13: 19,859,818 (GRCm39) K28N probably damaging Het
Pamr1 A G 2: 102,464,688 (GRCm39) N279S probably benign Het
Pcca A T 14: 122,922,391 (GRCm39) D384V probably damaging Het
Prkag1 A T 15: 98,711,909 (GRCm39) I239N probably damaging Het
Psme4 A G 11: 30,798,131 (GRCm39) T1375A probably benign Het
Ptk2 A C 15: 73,077,994 (GRCm39) L1024R probably damaging Het
Rere G A 4: 150,698,269 (GRCm39) probably benign Het
Scn2a A G 2: 65,579,223 (GRCm39) probably benign Het
Sema5a T A 15: 32,538,802 (GRCm39) probably benign Het
Shoc1 A T 4: 59,062,668 (GRCm39) W863R probably damaging Het
Slc9a1 T A 4: 133,097,879 (GRCm39) W9R probably benign Het
Slco1a5 T A 6: 142,187,741 (GRCm39) M533L probably benign Het
Ttll4 T A 1: 74,726,643 (GRCm39) S720T probably damaging Het
Vmn1r168 A T 7: 23,240,780 (GRCm39) R212S probably damaging Het
Vmn2r114 T C 17: 23,529,494 (GRCm39) I203V probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Hint1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4469001:Hint1 UTSW 11 54,760,896 (GRCm39) missense unknown
R6312:Hint1 UTSW 11 54,760,816 (GRCm39) missense probably benign 0.10
R8391:Hint1 UTSW 11 54,757,368 (GRCm39) missense possibly damaging 0.80
R8879:Hint1 UTSW 11 54,760,769 (GRCm39) missense probably benign
Posted On 2015-04-16