Incidental Mutation 'R4024:Hnmt'
ID 313373
Institutional Source Beutler Lab
Gene Symbol Hnmt
Ensembl Gene ENSMUSG00000026986
Gene Name histamine N-methyltransferase
Synonyms 1500031F01Rik
MMRRC Submission 041612-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R4024 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 23892922-23939406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23893777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 239 (D239G)
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: D239G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062747
Gene: ENSMUSG00000026986
AA Change: D239G

DomainStartEndE-ValueType
Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114497
AA Change: D239G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110141
Gene: ENSMUSG00000026986
AA Change: D239G

DomainStartEndE-ValueType
Pfam:Methyltransf_23 29 218 4.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114498
AA Change: D239G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110142
Gene: ENSMUSG00000026986
AA Change: D239G

DomainStartEndE-ValueType
Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Meta Mutation Damage Score 0.0833 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 98% (58/59)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,215,251 (GRCm39) Y842H probably damaging Het
Adamts9 A G 6: 92,849,765 (GRCm39) probably benign Het
Adgrg7 A T 16: 56,550,661 (GRCm39) Y684N probably damaging Het
Aoc1 A T 6: 48,885,203 (GRCm39) N646I probably damaging Het
Armc2 A G 10: 41,869,054 (GRCm39) S37P probably benign Het
Bhmt2 G A 13: 93,799,839 (GRCm39) probably benign Het
Bpifb1 A T 2: 154,054,966 (GRCm39) D286V probably damaging Het
Cadps T A 14: 12,705,539 (GRCm38) E285D probably damaging Het
Cap2 C T 13: 46,791,317 (GRCm39) probably benign Het
Clcn4 T G 7: 7,293,427 (GRCm39) Y443S probably damaging Het
Clcn6 T A 4: 148,098,740 (GRCm39) T463S possibly damaging Het
Cmip A G 8: 118,174,155 (GRCm39) I412V possibly damaging Het
Cndp1 T C 18: 84,646,938 (GRCm39) D250G probably damaging Het
Colec10 A G 15: 54,325,947 (GRCm39) D259G probably damaging Het
Ctnna2 A T 6: 77,613,827 (GRCm39) D254E possibly damaging Het
Dlec1 T C 9: 118,966,408 (GRCm39) Y1126H probably damaging Het
Dzank1 T C 2: 144,324,147 (GRCm39) S565G probably benign Het
Eef2k A G 7: 120,457,821 (GRCm39) Y60C probably benign Het
Fbxl4 T C 4: 22,377,074 (GRCm39) V170A possibly damaging Het
Foxk2 T A 11: 121,176,439 (GRCm39) I195N possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gpr6 G A 10: 40,947,264 (GRCm39) T106M probably damaging Het
Grk3 T A 5: 113,062,850 (GRCm39) N666Y possibly damaging Het
Igf2 A G 7: 142,208,044 (GRCm39) V111A probably benign Het
Lrriq3 G A 3: 154,893,939 (GRCm39) E547K probably benign Het
Lrriq4 T C 3: 30,704,422 (GRCm39) V150A possibly damaging Het
Mroh8 A G 2: 157,098,272 (GRCm39) V292A probably benign Het
Myo1e A G 9: 70,232,157 (GRCm39) I229V probably benign Het
Nisch A G 14: 30,898,776 (GRCm39) probably benign Het
Nkx2-2 T C 2: 147,026,154 (GRCm39) T195A probably benign Het
Or10aa3 C T 1: 173,878,683 (GRCm39) T248I probably benign Het
Or2t47 G A 11: 58,442,222 (GRCm39) T281I possibly damaging Het
Or5p63 A T 7: 107,810,949 (GRCm39) Y262* probably null Het
Or8w1 T A 2: 87,465,499 (GRCm39) L197F probably damaging Het
Plekhn1 A G 4: 156,309,207 (GRCm39) V233A probably damaging Het
Ppp3r1 T C 11: 17,144,786 (GRCm39) V133A probably damaging Het
Sash1 T C 10: 8,605,681 (GRCm39) D903G probably benign Het
Scn8a A G 15: 100,937,674 (GRCm39) D1681G probably damaging Het
Slk A G 19: 47,610,809 (GRCm39) probably null Het
Tasor2 T C 13: 3,634,554 (GRCm39) D751G probably damaging Het
Tlr11 C T 14: 50,600,303 (GRCm39) T763I probably benign Het
Ttbk2 T C 2: 120,590,736 (GRCm39) T308A possibly damaging Het
Tyk2 G A 9: 21,027,215 (GRCm39) L552F probably damaging Het
Ubp1 A G 9: 113,773,951 (GRCm39) D50G probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ulk4 A T 9: 120,873,915 (GRCm39) I1172N possibly damaging Het
Usf3 T A 16: 44,036,528 (GRCm39) V336E possibly damaging Het
Vangl2 T C 1: 171,835,608 (GRCm39) S355G probably benign Het
Vmn1r216 A G 13: 23,284,061 (GRCm39) D248G probably damaging Het
Vmn1r34 T A 6: 66,614,688 (GRCm39) M17L probably benign Het
Vmn2r120 T A 17: 57,843,718 (GRCm39) D42V possibly damaging Het
Vmn2r6 A T 3: 64,445,671 (GRCm39) S685T possibly damaging Het
Vsig10l T C 7: 43,117,510 (GRCm39) V701A probably benign Het
Wdfy3 A G 5: 102,071,961 (GRCm39) probably benign Het
Zfp808 T A 13: 62,319,544 (GRCm39) C258S possibly damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q 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
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
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'- CTTAAGAAAGCCTAAGTTGTCTTGG -3'
(R):5'- CTAGTGGCTGGGAAAAGCTATG -3'

Sequencing Primer
(F):5'- ATGAGCTCTGGATACTCTTATGAC -3'
(R):5'- CTATGGAAAAAGTATGGATCCCGCC -3'
Posted On 2015-04-30