Incidental Mutation 'IGL02585:Inmt'
| ID |
299514 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Inmt
|
| Ensembl Gene |
ENSMUSG00000003477 |
| Gene Name |
indolethylamine N-methyltransferase |
| Synonyms |
Temt |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
IGL02585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
55147612-55151975 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55150431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 69
(I69F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003569]
|
| AlphaFold |
P40936 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003569
AA Change: I69F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003569
Gene: ENSMUSG00000003477
AA Change: I69F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NNMT_PNMT_TEMT
|
1 |
260 |
4.9e-113 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152720
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream FAM188B (family with sequence similarity 188, member B) gene. [provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,592,121 (GRCm39) |
I603T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,855 (GRCm39) |
|
probably null |
Het |
| Atp5me |
T |
C |
5: 108,581,936 (GRCm39) |
Y16C |
probably damaging |
Het |
| Ccdc122 |
A |
T |
14: 77,330,202 (GRCm39) |
|
probably benign |
Het |
| Ccdc83 |
C |
T |
7: 89,886,120 (GRCm39) |
R213Q |
probably damaging |
Het |
| Cd38 |
G |
A |
5: 44,067,644 (GRCm39) |
V292M |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,472,212 (GRCm39) |
S26P |
probably damaging |
Het |
| Gdpd1 |
A |
T |
11: 86,964,802 (GRCm39) |
M1K |
probably null |
Het |
| Lrrc19 |
A |
T |
4: 94,531,562 (GRCm39) |
S17T |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,366,077 (GRCm39) |
Q1330K |
probably benign |
Het |
| Map4k3 |
C |
A |
17: 80,961,348 (GRCm39) |
|
probably benign |
Het |
| Musk |
A |
G |
4: 58,347,849 (GRCm39) |
T329A |
probably benign |
Het |
| Nhs |
T |
C |
X: 160,624,760 (GRCm39) |
E863G |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,318,329 (GRCm39) |
I125F |
probably benign |
Het |
| Odr4 |
T |
A |
1: 150,239,272 (GRCm39) |
T384S |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,785,241 (GRCm39) |
L825F |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,986,828 (GRCm39) |
H889R |
possibly damaging |
Het |
| Rbm15b |
T |
C |
9: 106,763,025 (GRCm39) |
Q381R |
probably benign |
Het |
| Rtn1 |
C |
A |
12: 72,354,929 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,542,648 (GRCm39) |
L3167P |
probably damaging |
Het |
| Scfd1 |
G |
A |
12: 51,433,890 (GRCm39) |
E61K |
probably damaging |
Het |
| Sgce |
A |
G |
6: 4,711,388 (GRCm39) |
|
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,275,097 (GRCm39) |
V52E |
probably benign |
Het |
| Slc38a11 |
T |
C |
2: 65,166,135 (GRCm39) |
D212G |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,286,571 (GRCm39) |
K356R |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssc4d |
A |
G |
5: 135,999,192 (GRCm39) |
S4P |
possibly damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,177,679 (GRCm39) |
T82A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,460,530 (GRCm39) |
Q2597L |
probably benign |
Het |
| Uspl1 |
C |
T |
5: 149,150,872 (GRCm39) |
Q691* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,243,642 (GRCm39) |
V17A |
probably benign |
Het |
| Zscan29 |
T |
A |
2: 120,994,357 (GRCm39) |
R543* |
probably null |
Het |
|
| Other mutations in Inmt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01520:Inmt
|
APN |
6 |
55,148,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02404:Inmt
|
APN |
6 |
55,148,095 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02478:Inmt
|
APN |
6 |
55,150,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Inmt
|
UTSW |
6 |
55,148,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0673:Inmt
|
UTSW |
6 |
55,148,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Inmt
|
UTSW |
6 |
55,150,404 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1862:Inmt
|
UTSW |
6 |
55,151,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4383:Inmt
|
UTSW |
6 |
55,148,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4529:Inmt
|
UTSW |
6 |
55,148,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5057:Inmt
|
UTSW |
6 |
55,151,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5999:Inmt
|
UTSW |
6 |
55,151,933 (GRCm39) |
nonsense |
probably null |
|
|
R7135:Inmt
|
UTSW |
6 |
55,148,013 (GRCm39) |
nonsense |
probably null |
|
|
R9242:Inmt
|
UTSW |
6 |
55,150,270 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9353:Inmt
|
UTSW |
6 |
55,151,984 (GRCm39) |
start gained |
probably benign |
|
|
R9476:Inmt
|
UTSW |
6 |
55,147,990 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9510:Inmt
|
UTSW |
6 |
55,147,990 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0021:Inmt
|
UTSW |
6 |
55,150,281 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0022:Inmt
|
UTSW |
6 |
55,150,460 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Posted On |
2015-04-16 |
Incidental Mutation