Incidental Mutation 'IGL02205:Hnmt'
| ID |
284437 |
| 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 # |
IGL02205
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23892922-23939406 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23909157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 85
(N85K)
|
| 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: N85K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062747
Gene: ENSMUSG00000026986
AA Change: N85K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
30 |
218 |
3.6e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114497
AA Change: N85K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110141
Gene: ENSMUSG00000026986
AA Change: N85K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
29 |
218 |
4.3e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114498
AA Change: N85K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110142
Gene: ENSMUSG00000026986
AA Change: N85K
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
T |
G |
11: 117,725,982 (GRCm39) |
L150R |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,364 (GRCm39) |
D543E |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,906,956 (GRCm39) |
L258V |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,257,152 (GRCm39) |
F1087S |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,181,714 (GRCm39) |
V674I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,481,305 (GRCm39) |
Q826* |
probably null |
Het |
| Ctdsp1 |
C |
T |
1: 74,432,993 (GRCm39) |
A92V |
possibly damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,702 (GRCm39) |
S745R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,601 (GRCm39) |
Y560C |
probably damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,541 (GRCm39) |
M232T |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,304 (GRCm39) |
F267L |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,924,120 (GRCm39) |
I2031T |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,290,139 (GRCm39) |
V2324G |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,352,822 (GRCm39) |
R363S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,137,363 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,629,703 (GRCm39) |
Y683F |
probably benign |
Het |
| Mepce |
G |
T |
5: 137,782,757 (GRCm39) |
T523K |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,321,439 (GRCm39) |
V1040A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,913,083 (GRCm39) |
Y1470H |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,798 (GRCm39) |
Y293H |
probably damaging |
Het |
| Otol1 |
T |
C |
3: 69,925,929 (GRCm39) |
S35P |
probably benign |
Het |
| P4htm |
T |
C |
9: 108,459,161 (GRCm39) |
D257G |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,010 (GRCm39) |
T81A |
probably damaging |
Het |
| Polg2 |
T |
C |
11: 106,669,946 (GRCm39) |
E108G |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,514,932 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,333,765 (GRCm39) |
V611A |
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 79,423,932 (GRCm39) |
K203N |
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,838,399 (GRCm39) |
V1046D |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,412 (GRCm39) |
D1718V |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,045,260 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,790,736 (GRCm39) |
Y338C |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,149,335 (GRCm39) |
Y31C |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,606,329 (GRCm39) |
N624K |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation