Incidental Mutation 'IGL00857:Hnmt'
| ID |
11306 |
| 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 # |
IGL00857
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23892922-23939406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23893795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 233
(D233G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051416]
[ENSMUST00000114497]
[ENSMUST00000114498]
|
| AlphaFold |
Q91VF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051416
AA Change: D233G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000062747
Gene: ENSMUSG00000026986
AA Change: D233G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
30 |
218 |
3.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114497
AA Change: D233G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110141
Gene: ENSMUSG00000026986
AA Change: D233G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
29 |
218 |
4.3e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114498
AA Change: D233G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000110142
Gene: ENSMUSG00000026986
AA Change: D233G
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,454,205 (GRCm39) |
T181A |
probably benign |
Het |
| Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
| Cacna1d |
A |
T |
14: 30,072,638 (GRCm39) |
N112K |
possibly damaging |
Het |
| Cd164 |
A |
G |
10: 41,404,691 (GRCm39) |
T150A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,470,120 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
C |
A |
6: 47,026,358 (GRCm39) |
N61K |
probably benign |
Het |
| Cstdc1 |
A |
G |
2: 148,624,170 (GRCm39) |
D48G |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,708,631 (GRCm39) |
I393V |
probably benign |
Het |
| Dcaf11 |
A |
T |
14: 55,798,742 (GRCm39) |
|
probably benign |
Het |
| Defb7 |
G |
A |
8: 19,547,594 (GRCm39) |
R33Q |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,283,604 (GRCm39) |
Y2743C |
probably benign |
Het |
| Enpp2 |
A |
G |
15: 54,739,046 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,335,465 (GRCm39) |
E576D |
probably benign |
Het |
| Gfpt1 |
T |
A |
6: 87,033,145 (GRCm39) |
N123K |
probably damaging |
Het |
| Hsd3b2 |
T |
A |
3: 98,618,859 (GRCm39) |
E362V |
possibly damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,617,735 (GRCm39) |
N487K |
probably benign |
Het |
| Hspa14 |
T |
C |
2: 3,503,796 (GRCm39) |
Y83C |
probably damaging |
Het |
| Itm2b |
T |
C |
14: 73,602,056 (GRCm39) |
N214S |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Myocd |
A |
T |
11: 65,069,662 (GRCm39) |
V726D |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,927 (GRCm39) |
|
probably null |
Het |
| Nrdc |
A |
T |
4: 108,911,199 (GRCm39) |
I774F |
probably damaging |
Het |
| Pot1a |
T |
C |
6: 25,744,627 (GRCm39) |
I626V |
probably benign |
Het |
| Prkab2 |
C |
T |
3: 97,569,659 (GRCm39) |
A75V |
possibly damaging |
Het |
| Sdr9c7 |
A |
G |
10: 127,734,728 (GRCm39) |
Q72R |
probably benign |
Het |
| Slc16a7 |
A |
C |
10: 125,066,803 (GRCm39) |
Y279D |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,308 (GRCm39) |
T577S |
probably benign |
Het |
| Slitrk3 |
G |
A |
3: 72,957,174 (GRCm39) |
L533F |
probably damaging |
Het |
| Tent5a |
C |
A |
9: 85,206,806 (GRCm39) |
V331L |
possibly damaging |
Het |
| Tmeff1 |
T |
C |
4: 48,610,435 (GRCm39) |
V102A |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,583,099 (GRCm39) |
T22598I |
probably damaging |
Het |
| Ube4a |
C |
A |
9: 44,843,684 (GRCm39) |
G977W |
probably damaging |
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 |
|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation