Incidental Mutation 'IGL03123: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: 0.138) question?
Stock #IGL03123
Quality Score
Chromosomal Location24002910-24049394 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24019159 bp
Amino Acid Change Isoleucine to Valine at position 81 (I81V)
Ref Sequence ENSEMBL: ENSMUSP00000110142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051416] [ENSMUST00000114497] [ENSMUST00000114498]
Predicted Effect probably benign
Transcript: ENSMUST00000051416
AA Change: I81V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062747
Gene: ENSMUSG00000026986
AA Change: I81V

Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114497
AA Change: I81V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110141
Gene: ENSMUSG00000026986
AA Change: I81V

Pfam:Methyltransf_23 29 218 4.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114498
AA Change: I81V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110142
Gene: ENSMUSG00000026986
AA Change: I81V

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T C 14: 49,073,761 V96A probably damaging Het
Atp10b T C 11: 43,153,283 V112A probably benign Het
Caprin2 G T 6: 148,895,007 A36E probably damaging Het
Dnase1l2 T C 17: 24,442,252 M28V possibly damaging Het
Eci1 T A 17: 24,436,326 probably null Het
Edil3 T A 13: 89,131,736 S178T probably damaging Het
Epha5 A G 5: 84,331,226 probably null Het
Exoc3l4 A G 12: 111,422,113 E12G probably damaging Het
Frmd7 G A X: 50,895,958 T445I probably benign Het
Gatsl3 A T 11: 4,220,278 T119S probably damaging Het
Golga4 A G 9: 118,536,885 E344G probably damaging Het
H2-M10.4 A G 17: 36,461,920 Y57H probably damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Htra3 C T 5: 35,666,133 V280I probably damaging Het
Impg2 G T 16: 56,267,122 E992D probably damaging Het
Kctd4 T C 14: 75,962,978 W130R possibly damaging Het
Kdm3b T A 18: 34,809,491 probably null Het
Kmt2d G A 15: 98,861,771 T1202M unknown Het
Lrp11 A T 10: 7,602,925 D326V probably damaging Het
Lrrcc1 A T 3: 14,536,084 I59F probably damaging Het
Lyg2 G A 1: 37,915,764 probably benign Het
Med16 A G 10: 79,896,833 V699A probably damaging Het
Myo18b G T 5: 112,874,938 probably benign Het
Nrxn2 A G 19: 6,481,737 T744A probably damaging Het
Olfr397 T A 11: 73,964,986 I126N probably damaging Het
Oser1 A T 2: 163,411,389 probably benign Het
Pcdhgc5 T C 18: 37,819,913 V80A probably benign Het
Pi4ka C T 16: 17,282,675 G1857D possibly damaging Het
Pitpnc1 C T 11: 107,337,411 probably null Het
Pofut2 A G 10: 77,267,010 E137G probably benign Het
Rgsl1 A T 1: 153,825,941 W291R probably damaging Het
Rnf113a2 T C 12: 84,418,276 I314T probably benign Het
Rps2 C T 17: 24,720,289 probably benign Het
Setbp1 T C 18: 78,857,009 K1148E probably damaging Het
Slc45a2 A G 15: 11,012,655 D248G probably benign Het
Slit2 G T 5: 48,211,339 R352L probably damaging Het
Smg1 A G 7: 118,157,181 probably benign Het
Sycp2 A T 2: 178,352,479 C1217* probably null Het
Tbcb A G 7: 30,226,836 probably benign Het
Tinf2 T C 14: 55,680,889 D128G probably damaging Het
Traf3ip2 A G 10: 39,639,222 D332G possibly damaging Het
Tram1 A G 1: 13,589,605 F40L probably benign Het
Trank1 A T 9: 111,367,407 I1500L probably damaging Het
Wdfy4 G A 14: 33,162,870 P25L probably benign Het
Wnt5a G T 14: 28,522,925 Q376H probably damaging Het
Zfp526 A C 7: 25,224,624 T103P 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
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
Posted On2016-08-02