|Institutional Source||Beutler Lab|
|Gene Name||histidine triad nucleotide binding protein 1|
|Synonyms||Ipk1, PKCI-1, PKC inhibitor/ interacting protein, protein kinase C inhibitor 1, PRKCNH1|
|Is this an essential gene?||Not available|
|Stock #||PIT4469001 (G1)|
|Chromosomal Location||54866383-54870501 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 54870070 bp|
|Amino Acid Change||Serine to Threonine at position 112 (S112T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000114037 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020504] [ENSMUST00000117710]|
|Predicted Effect||probably benign
AA Change: S112T
AA Change: S112T
|Coding Region Coverage||
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||
|Other mutations in Hint1||
(F):5'- GTGCCTCCCATTCAAACTGC -3'
(R):5'- CCCAGATCTGCAGCACATTTC -3'
(F):5'- CTTTCTGGTGATACCCAAGAAGC -3'
(R):5'- GCAGCACATTTCTTGCCAAC -3'