Incidental Mutation 'R8463:Hnmt'
ID 656632
Institutional Source Beutler Lab
Gene Symbol Hnmt
Ensembl Gene ENSMUSG00000026986
Gene Name histamine N-methyltransferase
Synonyms 1500031F01Rik
MMRRC Submission 067907-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R8463 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 23892922-23939406 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 23938836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000110142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051416] [ENSMUST00000114497] [ENSMUST00000114498]
AlphaFold Q91VF2
Predicted Effect probably null
Transcript: ENSMUST00000051416
AA Change: M1V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062747
Gene: ENSMUSG00000026986
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114497
AA Change: M1V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110141
Gene: ENSMUSG00000026986
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Methyltransf_23 29 218 4.3e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114498
AA Change: M1V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110142
Gene: ENSMUSG00000026986
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (64/65)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,192,909 (GRCm39) I146F probably damaging Het
Adcy8 G T 15: 64,792,874 (GRCm39) D27E probably benign Het
Ahnak A G 19: 8,986,113 (GRCm39) I2466V probably benign Het
BC005624 T A 2: 30,871,817 (GRCm39) E19V possibly damaging Het
Bnc2 A T 4: 84,211,608 (GRCm39) F279I probably damaging Het
Bub1 A T 2: 127,659,353 (GRCm39) L335M probably benign Het
Cdkn1c G A 7: 143,014,324 (GRCm39) H41Y possibly damaging Het
Celsr1 G A 15: 85,914,415 (GRCm39) P1186L probably damaging Het
Cnot2 A G 10: 116,353,236 (GRCm39) L75S probably benign Het
Cntn6 A T 6: 104,749,580 (GRCm39) E338D possibly damaging Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Dlg2 G T 7: 91,617,441 (GRCm39) M289I probably benign Het
Dzip1l A T 9: 99,519,875 (GRCm39) D134V possibly damaging Het
Fam171b A G 2: 83,683,801 (GRCm39) Y106C probably damaging Het
Fgd3 T C 13: 49,420,081 (GRCm39) K599E possibly damaging Het
Gabrr2 A T 4: 33,084,375 (GRCm39) I154F probably damaging Het
Gjd2 T A 2: 113,842,053 (GRCm39) E141D probably benign Het
Gmds T C 13: 32,003,906 (GRCm39) N371S probably benign Het
Gp2 C T 7: 119,053,554 (GRCm39) A136T probably damaging Het
Gstm2 A G 3: 107,893,672 (GRCm39) probably null Het
Hydin T C 8: 111,237,553 (GRCm39) V1942A probably benign Het
Krt87 C A 15: 101,332,506 (GRCm39) A236S probably benign Het
Lama3 A T 18: 12,582,896 (GRCm39) H654L probably damaging Het
Lrp2 G A 2: 69,322,250 (GRCm39) T1893M probably damaging Het
Lyg1 A T 1: 37,988,922 (GRCm39) Y99* probably null Het
Mdga1 T C 17: 30,068,703 (GRCm39) D208G probably damaging Het
Mgarp T C 3: 51,296,348 (GRCm39) E218G probably damaging Het
Mif4gd T A 11: 115,499,324 (GRCm39) D186V probably benign Het
Mlec T C 5: 115,288,283 (GRCm39) Y191C probably damaging Het
Mtus1 C A 8: 41,536,271 (GRCm39) V482L probably benign Het
Muc16 T A 9: 18,570,435 (GRCm39) T695S unknown Het
Muc4 A T 16: 32,574,201 (GRCm39) M760L probably benign Het
Mybl2 A T 2: 162,916,638 (GRCm39) S430C probably damaging Het
Nepn A G 10: 52,276,896 (GRCm39) N211D probably benign Het
Nuggc A G 14: 65,851,011 (GRCm39) T294A probably damaging Het
Or51k2 G A 7: 103,595,834 (GRCm39) probably null Het
Or5w16 A T 2: 87,577,437 (GRCm39) E299V probably benign Het
Pcca A G 14: 122,922,526 (GRCm39) probably null Het
Pcdhb13 T G 18: 37,576,287 (GRCm39) S222A possibly damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plppr3 A T 10: 79,703,397 (GRCm39) V29E probably damaging Het
Plxna2 C T 1: 194,326,354 (GRCm39) P96L probably damaging Het
Pop4 A T 7: 37,962,599 (GRCm39) *222R probably null Het
Prss2 T A 6: 41,498,739 (GRCm39) M1K probably null Het
Prss3 C A 6: 41,352,059 (GRCm39) R68L probably benign Het
Recql5 G A 11: 115,787,619 (GRCm39) Q512* probably null Het
Rnf148 A G 6: 23,654,801 (GRCm39) I65T probably benign Het
Scgb1b19 G A 7: 32,987,082 (GRCm39) A78T probably benign Het
Sftpd A G 14: 40,897,583 (GRCm39) probably null Het
Shank1 A G 7: 44,003,605 (GRCm39) R1766G possibly damaging Het
Slc35e2 T C 4: 155,694,615 (GRCm39) L54P probably damaging Het
Smg6 A G 11: 74,820,886 (GRCm39) K386E probably benign Het
Sorcs1 A G 19: 50,248,248 (GRCm39) S393P probably damaging Het
Spen A G 4: 141,249,590 (GRCm39) V66A unknown Het
Tpm1 G T 9: 66,955,512 (GRCm39) A45E probably benign Het
Trmt2a T C 16: 18,069,039 (GRCm39) Y294H probably damaging Het
Txnl4b T C 8: 110,299,430 (GRCm39) V130A possibly damaging Het
Vmn2r14 C A 5: 109,369,340 (GRCm39) V78L probably benign Het
Vmn2r27 A G 6: 124,169,168 (GRCm39) V654A probably damaging Het
Wee2 G T 6: 40,420,914 (GRCm39) M1I probably null Het
Xpnpep3 A G 15: 81,332,672 (GRCm39) K403R probably benign Het
Zranb1 A G 7: 132,551,810 (GRCm39) T154A possibly damaging 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
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
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'- ATGACTCTAATCCCAGGGCC -3'
(R):5'- GCAGATTTAAGTGCTGTCGTTTATC -3'

Sequencing Primer
(F):5'- CTAGGTTGCCGGTTAGTCC -3'
(R):5'- AAGTGCTGTCGTTTATCTCTTATTC -3'
Posted On 2021-01-18