Incidental Mutation 'R0018:Hnmt'
Institutional Source Beutler Lab
Gene Symbol Hnmt
Ensembl Gene ENSMUSG00000026986
Gene Namehistamine N-methyltransferase
MMRRC Submission 038313-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #R0018 (G1)
Quality Score209
Status Validated
Chromosomal Location24002910-24049394 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 24003628 bp
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]
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

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

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

Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Meta Mutation Damage Score 0.07 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
2310007B03Rik T A 1: 93,154,605 D264V probably benign Het
Abca17 T C 17: 24,313,188 probably null Het
Afp A C 5: 90,506,741 Q546P probably damaging Het
Api5 A T 2: 94,420,984 probably null Het
Atp2b4 T A 1: 133,717,871 I982F probably damaging Het
BC024139 G A 15: 76,120,887 Q592* probably null Het
Capn7 T A 14: 31,354,112 C290* probably null Het
Celsr1 T A 15: 86,031,042 D910V possibly damaging Het
Chga T C 12: 102,558,505 S45P probably damaging Het
Cpne2 T A 8: 94,556,053 C59S possibly damaging Het
Cyp2b13 G A 7: 26,085,950 R248H probably benign Het
Cyr61 A G 3: 145,649,431 L23P probably damaging Het
Dennd1a T A 2: 37,858,460 T336S possibly damaging Het
Drc7 A G 8: 95,074,234 Y628C probably damaging Het
Dse A G 10: 34,153,468 V542A probably benign Het
Dspp A T 5: 104,178,230 S820C unknown Het
Eif5b T C 1: 38,018,889 S91P unknown Het
Epop A G 11: 97,628,191 V364A probably benign Het
Ext2 G A 2: 93,795,692 P341L probably damaging Het
Galns T C 8: 122,584,985 T429A probably benign Het
Gm11639 G A 11: 104,721,552 probably null Het
Gsx2 A G 5: 75,077,167 K260R probably damaging Het
H2-M10.6 A C 17: 36,814,049 H286P probably damaging Het
Hectd4 A G 5: 121,254,179 N169D possibly damaging Het
Helz2 C A 2: 181,232,759 G1981C probably damaging Het
Hmcn1 T C 1: 150,652,551 D3282G probably benign Het
Hr A G 14: 70,558,277 R450G probably benign Het
Kat6a A G 8: 22,929,273 D684G possibly damaging Het
Kif27 T G 13: 58,288,053 I1309L probably benign Het
Man2b1 T A 8: 85,097,489 V1005E probably damaging Het
Me2 A T 18: 73,791,852 F265I possibly damaging Het
Myo9a A T 9: 59,871,724 T1588S probably benign Het
Neu4 T A 1: 94,025,338 D476E probably benign Het
Nlrp9c T A 7: 26,371,998 Q895L possibly damaging Het
Olfr395 T C 11: 73,906,626 I289V probably damaging Het
Olfr406 A C 11: 74,270,108 T240P probably benign Het
Pdzd8 C T 19: 59,300,673 R765H probably damaging Het
Plk1 T C 7: 122,168,985 probably null Het
Ppfia2 A G 10: 106,842,786 probably benign Het
Prkdc T C 16: 15,726,542 Y1799H probably benign Het
Psmc1 T C 12: 100,116,692 probably benign Het
Ptchd3 A C 11: 121,842,344 I687L probably benign Het
Ptprh A G 7: 4,601,846 probably null Het
Pus3 A G 9: 35,566,624 D384G probably benign Het
Rab44 C T 17: 29,139,380 P181S probably benign Het
Rasa2 A G 9: 96,571,963 S307P probably damaging Het
Rbpms2 A G 9: 65,651,078 D142G probably damaging Het
Reln A T 5: 21,925,371 D2647E probably benign Het
Ryr2 G A 13: 11,595,223 T4239I possibly damaging Het
Sctr C A 1: 120,043,556 probably benign Het
Serpinb6e A T 13: 33,837,845 Y167N probably damaging Het
Slc13a5 T C 11: 72,266,475 I31V probably benign Het
Slc15a4 A T 5: 127,602,010 I422N probably damaging Het
Stk24 G A 14: 121,308,007 probably benign Het
Vmn1r213 T A 13: 23,012,141 V298D probably damaging Het
Xdh C T 17: 73,925,025 R230H probably benign Het
Zfp418 A T 7: 7,182,450 S471C probably benign 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
IGL02647:Hnmt APN 2 24014307 missense possibly damaging 0.79
IGL03123:Hnmt APN 2 24019159 missense probably benign
IGL03137:Hnmt APN 2 24048739 missense probably damaging 0.99
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On2013-08-06