Incidental Mutation 'IGL03137:Hnmt'
ID 410577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnmt
Ensembl Gene ENSMUSG00000026986
Gene Name histamine N-methyltransferase
Synonyms 1500031F01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL03137
Quality Score
Status
Chromosome 2
Chromosomal Location 23892922-23939406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23938751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 29 (H29L)
Ref Sequence ENSEMBL: ENSMUSP00000110142 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051416] [ENSMUST00000114497] [ENSMUST00000114498]
AlphaFold Q91VF2
Predicted Effect probably damaging
Transcript: ENSMUST00000051416
AA Change: H29L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062747
Gene: ENSMUSG00000026986
AA Change: H29L

DomainStartEndE-ValueType
Pfam:Methyltransf_23 30 218 3.6e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114497
AA Change: H29L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110141
Gene: ENSMUSG00000026986
AA Change: H29L

DomainStartEndE-ValueType
Pfam:Methyltransf_23 29 218 4.3e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114498
AA Change: H29L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110142
Gene: ENSMUSG00000026986
AA Change: H29L

DomainStartEndE-ValueType
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
Ankub1 T C 3: 57,597,778 (GRCm39) D64G probably damaging Het
Apobec2 C T 17: 48,730,303 (GRCm39) W121* probably null Het
Arid2 A G 15: 96,269,199 (GRCm39) N1104S probably benign Het
Bltp1 T A 3: 37,088,751 (GRCm39) M569K probably damaging Het
Brap T C 5: 121,803,156 (GRCm39) probably benign Het
Cilp A C 9: 65,185,450 (GRCm39) N515T probably benign Het
Cpeb2 T A 5: 43,419,067 (GRCm39) probably benign Het
Creb1 C T 1: 64,615,374 (GRCm39) T242I possibly damaging Het
Ddx60 T C 8: 62,441,117 (GRCm39) V1062A possibly damaging Het
Dock8 A G 19: 25,133,312 (GRCm39) E1153G probably benign Het
Gk5 A G 9: 96,058,345 (GRCm39) probably benign Het
Gm5478 G T 15: 101,552,817 (GRCm39) N60K probably benign Het
Hmcn2 T A 2: 31,252,242 (GRCm39) V904D probably damaging Het
Hsf1 A G 15: 76,380,649 (GRCm39) probably benign Het
Igkv1-122 C A 6: 67,994,400 (GRCm39) T96K probably damaging Het
Iyd T C 10: 3,501,987 (GRCm39) I211T probably damaging Het
Kcnn1 G T 8: 71,303,381 (GRCm39) H34N probably damaging Het
Krtap5-3 G T 7: 141,755,946 (GRCm39) probably benign Het
Map3k19 C T 1: 127,752,052 (GRCm39) R433K probably benign Het
Mss51 A C 14: 20,537,200 (GRCm39) C89W probably damaging Het
Myh9 A T 15: 77,675,289 (GRCm39) I276N probably damaging Het
Myof T C 19: 37,963,337 (GRCm39) E420G probably damaging Het
Nfatc2ip C A 7: 125,989,740 (GRCm39) V215L possibly damaging Het
Or10ag52 A T 2: 87,043,500 (GRCm39) Y88F probably benign Het
Or51m1 T C 7: 103,578,801 (GRCm39) M257T probably benign Het
Or5d18 G A 2: 87,864,754 (GRCm39) A243V probably benign Het
Pcdhb4 T C 18: 37,441,569 (GRCm39) I293T probably damaging Het
Pdcd6ip A G 9: 113,486,213 (GRCm39) S729P possibly damaging Het
Pick1 C A 15: 79,129,501 (GRCm39) H169N possibly damaging Het
Ppp4r4 A C 12: 103,547,643 (GRCm39) K212T probably damaging Het
Racgap1 A G 15: 99,526,622 (GRCm39) S314P probably damaging Het
Rasef C A 4: 73,652,720 (GRCm39) E594* probably null Het
Ryr3 T G 2: 112,740,742 (GRCm39) K522Q probably benign Het
Shoc1 G T 4: 59,094,162 (GRCm39) F187L probably benign Het
Six5 T C 7: 18,831,072 (GRCm39) probably benign Het
Slc26a9 G T 1: 131,691,615 (GRCm39) E619D probably benign Het
Sqor A G 2: 122,649,991 (GRCm39) I412V probably benign Het
Srrt T A 5: 137,294,379 (GRCm39) probably benign Het
Sult1e1 C T 5: 87,726,475 (GRCm39) R213K probably benign Het
Tmc2 T A 2: 130,082,050 (GRCm39) L411H probably damaging Het
Tmem63b T A 17: 45,975,921 (GRCm39) N511Y probably damaging Het
Ucp3 T A 7: 100,131,969 (GRCm39) probably benign Het
Vmn1r201 A T 13: 22,658,974 (GRCm39) I63F probably benign Het
Vps13c G T 9: 67,797,662 (GRCm39) L522F probably damaging Het
Wwp1 T A 4: 19,678,408 (GRCm39) T3S probably damaging Het
Zc3hav1 A G 6: 38,309,329 (GRCm39) S498P 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
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
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
Posted On 2016-08-02