Incidental Mutation 'IGL02647:Hnmt'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnmt
Ensembl Gene ENSMUSG00000026986
Gene Namehistamine N-methyltransferase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.195) question?
Stock #IGL02647
Quality Score
Chromosomal Location24002910-24049394 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 24014307 bp
Amino Acid Change Serine to Phenylalanine at position 114 (S114F)
Ref Sequence ENSEMBL: ENSMUSP00000110141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051416] [ENSMUST00000114497] [ENSMUST00000114498]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051416
AA Change: S114F

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062747
Gene: ENSMUSG00000026986
AA Change: S114F

Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114497
AA Change: S114F

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110141
Gene: ENSMUSG00000026986
AA Change: S114F

Pfam:Methyltransf_23 29 218 4.3e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114498
AA Change: S114F

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110142
Gene: ENSMUSG00000026986
AA Change: S114F

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A T 14: 29,990,890 R497W probably damaging Het
AF366264 T C 8: 13,836,979 T371A probably damaging Het
Als2cr12 T C 1: 58,670,454 T181A probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bmx T C X: 164,205,235 E495G probably damaging Het
Cbx5 T C 15: 103,200,903 probably null Het
Cenpj C T 14: 56,530,079 V1203M probably damaging Het
Ces1b T C 8: 93,057,044 H516R probably benign Het
D430041D05Rik T C 2: 104,248,266 N1235S probably damaging Het
Depdc1a A T 3: 159,522,866 K418N probably damaging Het
Dysf G A 6: 84,137,373 V1215M probably damaging Het
Foxf2 A T 13: 31,627,235 N386Y probably damaging Het
Frem1 A T 4: 83,001,754 V455E probably damaging Het
Fzd7 C A 1: 59,484,395 P479Q probably damaging Het
Irf3 A G 7: 45,000,376 N6S probably benign Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lrba A G 3: 86,359,731 D1576G probably benign Het
Lsg1 A T 16: 30,585,552 probably null Het
Mal2 T C 15: 54,588,437 F85L probably damaging Het
Me2 A C 18: 73,797,903 S106R probably benign Het
Med21 T C 6: 146,649,233 S81P probably benign Het
Mos T C 4: 3,870,961 Y285C probably damaging Het
Mtmr1 A G X: 71,393,333 N256S probably damaging Het
Olfr868 T A 9: 20,101,209 M150K probably benign Het
Prl3d2 A C 13: 27,126,016 T155P probably benign Het
R3hdm2 C T 10: 127,459,484 S240L probably damaging Het
Skint6 A T 4: 113,127,891 probably benign Het
Ubr5 A G 15: 37,992,082 S1933P probably damaging Het
Veph1 A T 3: 66,159,448 probably benign Het
Xpo7 A G 14: 70,685,465 F557S probably damaging Het
Zfp647 T C 15: 76,917,715 E30G probably damaging Het
Zfp655 A T 5: 145,243,006 I75L probably benign Het
Zfp981 C A 4: 146,537,252 Y211* probably null Het
Other mutations in Hnmt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Hnmt APN 2 24003884 nonsense probably null
IGL00857:Hnmt APN 2 24003783 missense probably benign 0.04
IGL01315:Hnmt APN 2 24019168 missense probably benign 0.02
IGL02205:Hnmt APN 2 24019145 missense probably damaging 1.00
IGL03123:Hnmt APN 2 24019159 missense probably benign
IGL03137:Hnmt APN 2 24048739 missense probably damaging 0.99
R0018:Hnmt UTSW 2 24003628 missense possibly damaging 0.69
R1959:Hnmt UTSW 2 24003882 missense possibly damaging 0.84
R2106:Hnmt UTSW 2 24019118 missense probably benign 0.19
R2426:Hnmt UTSW 2 24019155 missense probably benign 0.11
R4024:Hnmt UTSW 2 24003765 missense probably benign
R4590:Hnmt UTSW 2 24019099 splice site probably null
R5643:Hnmt UTSW 2 24014239 missense probably damaging 1.00
R5644:Hnmt UTSW 2 24014239 missense probably damaging 1.00
R6240:Hnmt UTSW 2 24014269 missense probably benign 0.00
R7153:Hnmt UTSW 2 24014341 missense probably damaging 0.98
R7359:Hnmt UTSW 2 24048719 missense probably benign
R7399:Hnmt UTSW 2 24003880 missense probably benign 0.01
Posted On2015-04-16