Incidental Mutation 'IGL02647:Hnmt'
| ID |
301986 |
| 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 # |
IGL02647
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23892922-23939406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23904319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 114
(S114F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051416]
[ENSMUST00000114497]
[ENSMUST00000114498]
|
| AlphaFold |
Q91VF2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051416
AA Change: S114F
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000062747
Gene: ENSMUSG00000026986
AA Change: S114F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
30 |
218 |
3.6e-16 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114497
AA Change: S114F
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110141
Gene: ENSMUSG00000026986
AA Change: S114F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
29 |
218 |
4.3e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114498
AA Change: S114F
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110142
Gene: ENSMUSG00000026986
AA Change: S114F
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
T |
14: 29,712,847 (GRCm39) |
R497W |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bmx |
T |
C |
X: 162,988,231 (GRCm39) |
E495G |
probably damaging |
Het |
| Cbx5 |
T |
C |
15: 103,109,330 (GRCm39) |
|
probably null |
Het |
| Cenpj |
C |
T |
14: 56,767,536 (GRCm39) |
V1203M |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,783,672 (GRCm39) |
H516R |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,078,611 (GRCm39) |
N1235S |
probably damaging |
Het |
| Depdc1a |
A |
T |
3: 159,228,503 (GRCm39) |
K418N |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,114,355 (GRCm39) |
V1215M |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,709,613 (GRCm39) |
T181A |
probably benign |
Het |
| Foxf2 |
A |
T |
13: 31,811,218 (GRCm39) |
N386Y |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,919,991 (GRCm39) |
V455E |
probably damaging |
Het |
| Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
| Irf3 |
A |
G |
7: 44,649,800 (GRCm39) |
N6S |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,267,038 (GRCm39) |
D1576G |
probably benign |
Het |
| Lsg1 |
A |
T |
16: 30,404,370 (GRCm39) |
|
probably null |
Het |
| Mal2 |
T |
C |
15: 54,451,833 (GRCm39) |
F85L |
probably damaging |
Het |
| Me2 |
A |
C |
18: 73,930,974 (GRCm39) |
S106R |
probably benign |
Het |
| Med21 |
T |
C |
6: 146,550,731 (GRCm39) |
S81P |
probably benign |
Het |
| Mos |
T |
C |
4: 3,870,961 (GRCm39) |
Y285C |
probably damaging |
Het |
| Mtmr1 |
A |
G |
X: 70,436,939 (GRCm39) |
N256S |
probably damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,505 (GRCm39) |
M150K |
probably benign |
Het |
| Prl3d2 |
A |
C |
13: 27,309,999 (GRCm39) |
T155P |
probably benign |
Het |
| R3hdm2 |
C |
T |
10: 127,295,353 (GRCm39) |
S240L |
probably damaging |
Het |
| Semp2l2a |
T |
C |
8: 13,886,979 (GRCm39) |
T371A |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,985,088 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,992,326 (GRCm39) |
S1933P |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 66,066,869 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,922,905 (GRCm39) |
F557S |
probably damaging |
Het |
| Zfp647 |
T |
C |
15: 76,801,915 (GRCm39) |
E30G |
probably damaging |
Het |
| Zfp655 |
A |
T |
5: 145,179,816 (GRCm39) |
I75L |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,621,709 (GRCm39) |
Y211* |
probably null |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation