Incidental Mutation 'IGL01315:Hnmt'
ID 73829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnmt
Ensembl Gene ENSMUSG00000026986
Gene Name histamine N-methyltransferase
Synonyms 1500031F01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL01315
Quality Score
Status
Chromosome 2
Chromosomal Location 23892922-23939406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23909180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 78 (Y78H)
Ref Sequence ENSEMBL: ENSMUSP00000110142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051416] [ENSMUST00000114497] [ENSMUST00000114498]
AlphaFold Q91VF2
Predicted Effect probably benign
Transcript: ENSMUST00000051416
AA Change: Y78H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000062747
Gene: ENSMUSG00000026986
AA Change: Y78H

DomainStartEndE-ValueType
Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114497
AA Change: Y78H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000110141
Gene: ENSMUSG00000026986
AA Change: Y78H

DomainStartEndE-ValueType
Pfam:Methyltransf_23 29 218 4.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114498
AA Change: Y78H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000110142
Gene: ENSMUSG00000026986
AA Change: Y78H

DomainStartEndE-ValueType
Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit elevated histamine levels in the brain, increased aggression, hypoactivity and altered sleep-wake cycle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 T C 5: 31,050,578 (GRCm39) S409P probably benign Het
Ankdd1a T A 9: 65,415,984 (GRCm39) H187L probably damaging Het
Ap2a1 A T 7: 44,565,713 (GRCm39) D51E possibly damaging Het
Ccn3 T C 15: 54,612,656 (GRCm39) S222P probably damaging Het
Cog5 T A 12: 31,810,985 (GRCm39) probably benign Het
Eif3h T C 15: 51,705,881 (GRCm39) D91G probably damaging Het
Ell2 A G 13: 75,910,351 (GRCm39) probably benign Het
Epha4 A G 1: 77,375,194 (GRCm39) V551A probably benign Het
Gpc2 A G 5: 138,274,301 (GRCm39) S354P probably benign Het
Gramd1a A G 7: 30,841,993 (GRCm39) F140L probably damaging Het
Ighe T A 12: 113,234,972 (GRCm39) H396L unknown Het
Krt87 A G 15: 101,384,848 (GRCm39) probably benign Het
Mgat5b T C 11: 116,814,215 (GRCm39) S40P probably damaging Het
Mov10 A G 3: 104,703,261 (GRCm39) V876A probably damaging Het
Nbeal1 T C 1: 60,320,500 (GRCm39) V2031A probably damaging Het
Ntm T A 9: 28,925,480 (GRCm39) S26C probably damaging Het
Pcsk5 G A 19: 17,429,322 (GRCm39) T1552I probably damaging Het
Pex1 A T 5: 3,659,975 (GRCm39) D453V probably damaging Het
Pkd2l1 C T 19: 44,180,635 (GRCm39) D27N probably benign Het
Plppr5 G T 3: 117,456,175 (GRCm39) C232F probably damaging Het
Slc39a2 G T 14: 52,132,593 (GRCm39) E179* probably null Het
Slc8a3 A G 12: 81,361,169 (GRCm39) V550A probably damaging Het
Smc5 T A 19: 23,208,968 (GRCm39) T626S probably benign Het
Tars1 A C 15: 11,389,820 (GRCm39) Y363* probably null Het
Unc79 T C 12: 103,054,780 (GRCm39) I906T possibly damaging Het
Ush2a C T 1: 188,365,811 (GRCm39) P2222S possibly damaging Het
Wdr31 A C 4: 62,374,074 (GRCm39) V306G probably damaging Het
Zdhhc1 C A 8: 106,199,630 (GRCm39) R389S probably benign Het
Other mutations in Hnmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Hnmt APN 2 23,893,896 (GRCm39) nonsense probably null
IGL00857:Hnmt APN 2 23,893,795 (GRCm39) missense probably benign 0.04
IGL02205:Hnmt APN 2 23,909,157 (GRCm39) missense probably damaging 1.00
IGL02647:Hnmt APN 2 23,904,319 (GRCm39) missense possibly damaging 0.79
IGL03123:Hnmt APN 2 23,909,171 (GRCm39) missense probably benign
IGL03137:Hnmt APN 2 23,938,751 (GRCm39) missense probably damaging 0.99
R0018:Hnmt UTSW 2 23,893,640 (GRCm39) missense possibly damaging 0.69
R1959:Hnmt UTSW 2 23,893,894 (GRCm39) missense possibly damaging 0.84
R2106:Hnmt UTSW 2 23,909,130 (GRCm39) missense probably benign 0.19
R2426:Hnmt UTSW 2 23,909,167 (GRCm39) missense probably benign 0.11
R4024:Hnmt UTSW 2 23,893,777 (GRCm39) missense probably benign
R4590:Hnmt UTSW 2 23,909,111 (GRCm39) splice site probably null
R5643:Hnmt UTSW 2 23,904,251 (GRCm39) missense probably damaging 1.00
R5644:Hnmt UTSW 2 23,904,251 (GRCm39) missense probably damaging 1.00
R6240:Hnmt UTSW 2 23,904,281 (GRCm39) missense probably benign 0.00
R7153:Hnmt UTSW 2 23,904,353 (GRCm39) missense probably damaging 0.98
R7359:Hnmt UTSW 2 23,938,731 (GRCm39) missense probably benign
R7399:Hnmt UTSW 2 23,893,892 (GRCm39) missense probably benign 0.01
R8290:Hnmt UTSW 2 23,893,896 (GRCm39) nonsense probably null
R8463:Hnmt UTSW 2 23,938,836 (GRCm39) start codon destroyed probably null 1.00
R9183:Hnmt UTSW 2 23,893,655 (GRCm39) missense probably benign 0.03
R9524:Hnmt UTSW 2 23,893,880 (GRCm39) missense possibly damaging 0.92
Posted On 2013-10-07