Incidental Mutation 'R0018:Hnmt'
ID 64926
Institutional Source Beutler Lab
Gene Symbol Hnmt
Ensembl Gene ENSMUSG00000026986
Gene Name histamine N-methyltransferase
Synonyms 1500031F01Rik
MMRRC Submission 038313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0018 (G1)
Quality Score 209
Status Validated
Chromosome 2
Chromosomal Location 23892922-23939406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23893640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 285 (N285Y)
Ref Sequence ENSEMBL: ENSMUSP00000110142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051416] [ENSMUST00000114497] [ENSMUST00000114498]
AlphaFold Q91VF2
Predicted Effect possibly damaging
Transcript: ENSMUST00000051416
AA Change: N285Y

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062747
Gene: ENSMUSG00000026986
AA Change: N285Y

DomainStartEndE-ValueType
Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114497
AA Change: N285Y

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110141
Gene: ENSMUSG00000026986
AA Change: N285Y

DomainStartEndE-ValueType
Pfam:Methyltransf_23 29 218 4.3e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114498
AA Change: N285Y

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110142
Gene: ENSMUSG00000026986
AA Change: N285Y

DomainStartEndE-ValueType
Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 100% (64/64)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,532,162 (GRCm39) probably null Het
Afp A C 5: 90,654,600 (GRCm39) Q546P probably damaging Het
Api5 A T 2: 94,251,329 (GRCm39) probably null Het
Atp2b4 T A 1: 133,645,609 (GRCm39) I982F probably damaging Het
BC024139 G A 15: 76,005,087 (GRCm39) Q592* probably null Het
Capn7 T A 14: 31,076,069 (GRCm39) C290* probably null Het
Ccn1 A G 3: 145,355,186 (GRCm39) L23P probably damaging Het
Celsr1 T A 15: 85,915,243 (GRCm39) D910V possibly damaging Het
Chga T C 12: 102,524,764 (GRCm39) S45P probably damaging Het
Cpne2 T A 8: 95,282,681 (GRCm39) C59S possibly damaging Het
Cyp2b13 G A 7: 25,785,375 (GRCm39) R248H probably benign Het
Dennd1a T A 2: 37,748,472 (GRCm39) T336S possibly damaging Het
Drc7 A G 8: 95,800,862 (GRCm39) Y628C probably damaging Het
Dse A G 10: 34,029,464 (GRCm39) V542A probably benign Het
Dspp A T 5: 104,326,096 (GRCm39) S820C unknown Het
Efcab3 G A 11: 104,612,378 (GRCm39) probably null Het
Eif5b T C 1: 38,057,970 (GRCm39) S91P unknown Het
Epop A G 11: 97,519,017 (GRCm39) V364A probably benign Het
Ext2 G A 2: 93,626,037 (GRCm39) P341L probably damaging Het
Galns T C 8: 123,311,724 (GRCm39) T429A probably benign Het
Gsx2 A G 5: 75,237,828 (GRCm39) K260R probably damaging Het
H2-M10.6 A C 17: 37,124,941 (GRCm39) H286P probably damaging Het
Hectd4 A G 5: 121,392,242 (GRCm39) N169D possibly damaging Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Hmcn1 T C 1: 150,528,302 (GRCm39) D3282G probably benign Het
Hr A G 14: 70,795,717 (GRCm39) R450G probably benign Het
Kat6a A G 8: 23,419,289 (GRCm39) D684G possibly damaging Het
Kif27 T G 13: 58,435,867 (GRCm39) I1309L probably benign Het
Mab21l4 T A 1: 93,082,327 (GRCm39) D264V probably benign Het
Man2b1 T A 8: 85,824,118 (GRCm39) V1005E probably damaging Het
Me2 A T 18: 73,924,923 (GRCm39) F265I possibly damaging Het
Myo9a A T 9: 59,779,007 (GRCm39) T1588S probably benign Het
Neu4 T A 1: 93,953,060 (GRCm39) D476E probably benign Het
Nlrp9c T A 7: 26,071,423 (GRCm39) Q895L possibly damaging Het
Or1e35 T C 11: 73,797,452 (GRCm39) I289V probably damaging Het
Or1p1c A C 11: 74,160,934 (GRCm39) T240P probably benign Het
Pdzd8 C T 19: 59,289,105 (GRCm39) R765H probably damaging Het
Plk1 T C 7: 121,768,208 (GRCm39) probably null Het
Ppfia2 A G 10: 106,678,647 (GRCm39) probably benign Het
Prkdc T C 16: 15,544,406 (GRCm39) Y1799H probably benign Het
Psmc1 T C 12: 100,082,951 (GRCm39) probably benign Het
Ptchd3 A C 11: 121,733,170 (GRCm39) I687L probably benign Het
Ptprh A G 7: 4,604,845 (GRCm39) probably null Het
Pus3 A G 9: 35,477,920 (GRCm39) D384G probably benign Het
Rab44 C T 17: 29,358,354 (GRCm39) P181S probably benign Het
Rasa2 A G 9: 96,454,016 (GRCm39) S307P probably damaging Het
Rbpms2 A G 9: 65,558,360 (GRCm39) D142G probably damaging Het
Reln A T 5: 22,130,369 (GRCm39) D2647E probably benign Het
Ryr2 G A 13: 11,610,109 (GRCm39) T4239I possibly damaging Het
Sctr C A 1: 119,971,286 (GRCm39) probably benign Het
Serpinb6e A T 13: 34,021,828 (GRCm39) Y167N probably damaging Het
Slc13a5 T C 11: 72,157,301 (GRCm39) I31V probably benign Het
Slc15a4 A T 5: 127,679,074 (GRCm39) I422N probably damaging Het
Stk24 G A 14: 121,545,419 (GRCm39) probably benign Het
Vmn1r213 T A 13: 23,196,311 (GRCm39) V298D probably damaging Het
Xdh C T 17: 74,232,020 (GRCm39) R230H probably benign Het
Zfp418 A T 7: 7,185,449 (GRCm39) S471C 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
IGL01315:Hnmt APN 2 23,909,180 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- CCACCAGCCCCTGACTTTATGATG -3'
(R):5'- AATGCTACGACCTTGTGTCCACC -3'

Sequencing Primer
(F):5'- AAAGTGGCCCACATGGTTC -3'
(R):5'- CATGGACATAACAGACTGTTTTATTG -3'
Posted On 2013-08-06