Incidental Mutation 'IGL01315:Hnmt'
ID |
73829 |
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)
|
Stock # |
IGL01315
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
23892922-23939406 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23909180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 78
(Y78H)
|
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: Y78H
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000062747 Gene: ENSMUSG00000026986 AA Change: Y78H
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_23
|
30 |
218 |
3.6e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114497
AA Change: Y78H
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000110141 Gene: ENSMUSG00000026986 AA Change: Y78H
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_23
|
29 |
218 |
4.3e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114498
AA Change: Y78H
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000110142 Gene: ENSMUSG00000026986 AA Change: Y78H
Domain | Start | End | E-Value | Type |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
T |
C |
5: 31,050,578 (GRCm39) |
S409P |
probably benign |
Het |
Ankdd1a |
T |
A |
9: 65,415,984 (GRCm39) |
H187L |
probably damaging |
Het |
Ap2a1 |
A |
T |
7: 44,565,713 (GRCm39) |
D51E |
possibly damaging |
Het |
Ccn3 |
T |
C |
15: 54,612,656 (GRCm39) |
S222P |
probably damaging |
Het |
Cog5 |
T |
A |
12: 31,810,985 (GRCm39) |
|
probably benign |
Het |
Eif3h |
T |
C |
15: 51,705,881 (GRCm39) |
D91G |
probably damaging |
Het |
Ell2 |
A |
G |
13: 75,910,351 (GRCm39) |
|
probably benign |
Het |
Epha4 |
A |
G |
1: 77,375,194 (GRCm39) |
V551A |
probably benign |
Het |
Gpc2 |
A |
G |
5: 138,274,301 (GRCm39) |
S354P |
probably benign |
Het |
Gramd1a |
A |
G |
7: 30,841,993 (GRCm39) |
F140L |
probably damaging |
Het |
Ighe |
T |
A |
12: 113,234,972 (GRCm39) |
H396L |
unknown |
Het |
Krt87 |
A |
G |
15: 101,384,848 (GRCm39) |
|
probably benign |
Het |
Mgat5b |
T |
C |
11: 116,814,215 (GRCm39) |
S40P |
probably damaging |
Het |
Mov10 |
A |
G |
3: 104,703,261 (GRCm39) |
V876A |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,320,500 (GRCm39) |
V2031A |
probably damaging |
Het |
Ntm |
T |
A |
9: 28,925,480 (GRCm39) |
S26C |
probably damaging |
Het |
Pcsk5 |
G |
A |
19: 17,429,322 (GRCm39) |
T1552I |
probably damaging |
Het |
Pex1 |
A |
T |
5: 3,659,975 (GRCm39) |
D453V |
probably damaging |
Het |
Pkd2l1 |
C |
T |
19: 44,180,635 (GRCm39) |
D27N |
probably benign |
Het |
Plppr5 |
G |
T |
3: 117,456,175 (GRCm39) |
C232F |
probably damaging |
Het |
Slc39a2 |
G |
T |
14: 52,132,593 (GRCm39) |
E179* |
probably null |
Het |
Slc8a3 |
A |
G |
12: 81,361,169 (GRCm39) |
V550A |
probably damaging |
Het |
Smc5 |
T |
A |
19: 23,208,968 (GRCm39) |
T626S |
probably benign |
Het |
Tars1 |
A |
C |
15: 11,389,820 (GRCm39) |
Y363* |
probably null |
Het |
Unc79 |
T |
C |
12: 103,054,780 (GRCm39) |
I906T |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,365,811 (GRCm39) |
P2222S |
possibly damaging |
Het |
Wdr31 |
A |
C |
4: 62,374,074 (GRCm39) |
V306G |
probably damaging |
Het |
Zdhhc1 |
C |
A |
8: 106,199,630 (GRCm39) |
R389S |
probably benign |
Het |
|
Other mutations in Hnmt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
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 |
2013-10-07 |