Incidental Mutation 'R8391:Hint1'
ID 647392
Institutional Source Beutler Lab
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
MMRRC Submission 067756-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8391 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 54757209-54761327 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54757368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 18 (I18T)
Ref Sequence ENSEMBL: ENSMUSP00000020504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020504] [ENSMUST00000117710]
AlphaFold P70349
Predicted Effect possibly damaging
Transcript: ENSMUST00000020504
AA Change: I18T

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020504
Gene: ENSMUSG00000020267
AA Change: I18T

DomainStartEndE-ValueType
Pfam:DcpS_C 16 123 3.9e-29 PFAM
Pfam:HIT 24 121 7.3e-34 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117710
AA Change: I18T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114037
Gene: ENSMUSG00000020267
AA Change: I18T

DomainStartEndE-ValueType
Pfam:DcpS_C 16 78 7.6e-16 PFAM
Pfam:HIT 24 84 4.7e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,368,968 (GRCm39) S155P possibly damaging Het
Akr1c21 C T 13: 4,626,278 (GRCm39) R101W probably damaging Het
Angpt1 T A 15: 42,375,794 (GRCm39) N154I probably damaging Het
Aoc1l2 T C 6: 48,909,602 (GRCm39) W616R probably damaging Het
Atp2a1 T A 7: 126,047,888 (GRCm39) I641F possibly damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Bltp3b T C 10: 89,645,605 (GRCm39) V1226A possibly damaging Het
Cacna1b G A 2: 24,596,212 (GRCm39) A493V probably damaging Het
Cacna1h G A 17: 25,596,204 (GRCm39) A1939V probably benign Het
Cacna2d4 A G 6: 119,325,706 (GRCm39) I1027V probably benign Het
Cbln3 G A 14: 56,120,523 (GRCm39) R170C probably damaging Het
Cemip T C 7: 83,604,517 (GRCm39) S842G probably damaging Het
Cep164 T A 9: 45,718,491 (GRCm39) Q284L unknown Het
Crybg2 T C 4: 133,803,035 (GRCm39) F889L probably damaging Het
Fhip1a T C 3: 85,595,788 (GRCm39) N366D probably damaging Het
Gars1 T A 6: 55,025,127 (GRCm39) Y124N probably damaging Het
Gbp2b T C 3: 142,309,894 (GRCm39) F228S probably damaging Het
Gm5565 C A 5: 146,096,962 (GRCm39) R59L probably benign Het
Gm8947 A T 1: 151,068,737 (GRCm39) D190V probably benign Het
Grid2ip T C 5: 143,365,951 (GRCm39) M543T probably damaging Het
Gucy2c A G 6: 136,681,213 (GRCm39) L957P probably damaging Het
Il23r T C 6: 67,429,374 (GRCm39) S323G probably benign Het
Iqcf3 T G 9: 106,438,175 (GRCm39) E16A unknown Het
Kcnj1 A T 9: 32,308,028 (GRCm39) T151S probably damaging Het
Kdm1a G T 4: 136,281,154 (GRCm39) T685K probably benign Het
Lipo4 T A 19: 33,488,965 (GRCm39) H206L probably benign Het
Lrp5 A G 19: 3,654,185 (GRCm39) Y1081H probably damaging Het
Masp1 A T 16: 23,289,128 (GRCm39) H557Q possibly damaging Het
Nhsl1 C T 10: 18,400,691 (GRCm39) T605I possibly damaging Het
Or1af1 T A 2: 37,110,277 (GRCm39) Y259N probably damaging Het
Or1j21 C T 2: 36,684,096 (GRCm39) P283S probably damaging Het
Pkmyt1 C T 17: 23,954,013 (GRCm39) R307C probably damaging Het
Plppr4 T C 3: 117,129,060 (GRCm39) I136V probably benign Het
Ppp1r12c A C 7: 4,500,431 (GRCm39) Y150D probably damaging Het
Qrich2 C G 11: 116,356,403 (GRCm39) V149L probably benign Het
R3hdm1 T C 1: 128,121,215 (GRCm39) F176L Het
Ric8a T A 7: 140,437,916 (GRCm39) S52T probably benign Het
Romo1 G T 2: 155,986,340 (GRCm39) probably benign Het
Rps6ka1 G A 4: 133,591,346 (GRCm39) H318Y probably damaging Het
Slc43a3 A G 2: 84,768,151 (GRCm39) N41S probably benign Het
Srrm4 T G 5: 116,582,755 (GRCm39) T567P unknown Het
Srsf12 C G 4: 33,226,070 (GRCm39) P111R probably damaging Het
St6galnac4 G T 2: 32,484,086 (GRCm39) D95Y probably damaging Het
Sult2a6 T C 7: 13,956,516 (GRCm39) probably null Het
Synj2 A G 17: 5,991,796 (GRCm39) E24G probably damaging Het
Try10 T G 6: 41,334,306 (GRCm39) L166R probably damaging Het
Ttn A G 2: 76,562,544 (GRCm39) V28767A probably damaging Het
Ttn T A 2: 76,604,822 (GRCm39) I18371F probably damaging Het
Zc3h13 T A 14: 75,568,625 (GRCm39) L1306Q probably damaging Het
Zp2 T A 7: 119,726,179 (GRCm39) T674S probably benign Het
Zscan4-ps3 A G 7: 11,346,801 (GRCm39) Y279C probably benign Het
Other mutations in Hint1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02621:Hint1 APN 11 54,761,011 (GRCm39) utr 3 prime probably benign
PIT4469001:Hint1 UTSW 11 54,760,896 (GRCm39) missense unknown
R6312:Hint1 UTSW 11 54,760,816 (GRCm39) missense probably benign 0.10
R8879:Hint1 UTSW 11 54,760,769 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGAAAGGGCGTTTCCTCC -3'
(R):5'- CACGGGTCTGCACTTTACAG -3'

Sequencing Primer
(F):5'- GCCCATTTCGTTCCCTCG -3'
(R):5'- TCTGCACTTTACAGGGGGC -3'
Posted On 2020-09-02