Incidental Mutation 'R6582:Asmt'
ID |
524200 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asmt
|
Ensembl Gene |
ENSMUSG00000093806 |
Gene Name |
acetylserotonin O-methyltransferase |
Synonyms |
Hiomt |
MMRRC Submission |
044706-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R6582 (G1)
|
Quality Score |
129.339 |
Status
|
Validated
|
Chromosome |
X |
Chromosomal Location |
169106379-169111787 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 169108766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178693]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000178693
|
SMART Domains |
Protein: ENSMUSP00000137135 Gene: ENSMUSG00000093806
Domain | Start | End | E-Value | Type |
Pfam:Dimerisation2
|
17 |
106 |
1.1e-29 |
PFAM |
Pfam:Methyltransf_2
|
111 |
343 |
2.8e-82 |
PFAM |
Pfam:Methyltransf_11
|
190 |
292 |
2.8e-8 |
PFAM |
low complexity region
|
351 |
371 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: This gene belongs to the methyltransferase superfamily and is located in the pseudoautosomal region (PAR) of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin and is abundant in the pineal gland. Two amino acid substitutions (R78G and R242C) are present in the encoded protein derived from the reference strain, C57BL/6J, and this protein shows low enzyme activity relative to the protein derived from other strains. [provided by RefSeq, May 2015] PHENOTYPE: Pineal melatonin synthesis requires enzymes encoded by Asmt and Aanat. C57BL/6, BALB/c, AKR/J, NZB/Bl, IS/Cam, and CAST/Ei carry the a allele of Asmt and lack melatonin. SK/Cam, SF/Cam, PERU, and FDS carry the b allele and have normal melatonin levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,297,384 (GRCm39) |
T2369A |
probably benign |
Het |
Abhd6 |
T |
G |
14: 8,042,828 (GRCm38) |
|
probably null |
Het |
Abhd6 |
G |
T |
14: 8,042,826 (GRCm38) |
G128C |
probably damaging |
Het |
Acsm3 |
A |
G |
7: 119,378,896 (GRCm39) |
E426G |
probably benign |
Het |
Ankrd11 |
T |
C |
8: 123,618,368 (GRCm39) |
D1828G |
probably benign |
Het |
Casp4 |
A |
G |
9: 5,324,884 (GRCm39) |
Q232R |
probably benign |
Het |
Cenpt |
A |
T |
8: 106,575,833 (GRCm39) |
L171* |
probably null |
Het |
Chd3 |
AGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGG |
11: 69,259,982 (GRCm39) |
|
probably benign |
Het |
Col5a2 |
G |
T |
1: 45,429,275 (GRCm39) |
H948N |
possibly damaging |
Het |
Dnah9 |
G |
T |
11: 65,951,923 (GRCm39) |
H1859N |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,664,104 (GRCm39) |
R1993Q |
probably benign |
Het |
Fbxw8 |
C |
A |
5: 118,263,028 (GRCm39) |
R217L |
probably benign |
Het |
Flnb |
T |
G |
14: 7,892,275 (GRCm38) |
|
probably null |
Het |
Fyb2 |
A |
G |
4: 104,802,739 (GRCm39) |
N214D |
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,316,801 (GRCm39) |
E484G |
possibly damaging |
Het |
Gzmk |
A |
G |
13: 113,317,045 (GRCm39) |
Y45H |
probably damaging |
Het |
Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
Kcnj6 |
A |
G |
16: 94,633,685 (GRCm39) |
V142A |
possibly damaging |
Het |
Klri2 |
A |
T |
6: 129,716,096 (GRCm39) |
I81K |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,710,897 (GRCm39) |
V3144E |
probably damaging |
Het |
Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
Mbd3l1 |
T |
C |
9: 18,396,024 (GRCm39) |
Y50H |
probably benign |
Het |
Mcat |
T |
C |
15: 83,433,383 (GRCm39) |
N220S |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,282,941 (GRCm39) |
E81G |
probably benign |
Het |
Neto1 |
A |
T |
18: 86,512,985 (GRCm39) |
K327* |
probably null |
Het |
Or10j3 |
G |
T |
1: 173,031,847 (GRCm39) |
R308L |
probably benign |
Het |
Or4a67 |
A |
T |
2: 88,598,587 (GRCm39) |
L24Q |
probably damaging |
Het |
Or52p1 |
A |
T |
7: 104,267,648 (GRCm39) |
Y254F |
probably damaging |
Het |
Or52u1 |
T |
C |
7: 104,237,218 (GRCm39) |
L69P |
probably damaging |
Het |
Pidd1 |
A |
T |
7: 141,019,494 (GRCm39) |
V722D |
probably damaging |
Het |
Ppp2r2a |
G |
T |
14: 67,257,253 (GRCm39) |
H326N |
probably damaging |
Het |
Smarca5 |
G |
A |
8: 81,446,281 (GRCm39) |
T473I |
probably damaging |
Het |
Spg11 |
C |
A |
2: 121,922,773 (GRCm39) |
W892L |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,248 (GRCm39) |
I93N |
possibly damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Vmn1r71 |
T |
A |
7: 10,482,608 (GRCm39) |
I27F |
probably benign |
Het |
Vsnl1 |
A |
G |
12: 11,376,489 (GRCm39) |
V132A |
probably benign |
Het |
Wdsub1 |
T |
C |
2: 59,708,652 (GRCm39) |
T74A |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
|
Other mutations in Asmt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1634:Asmt
|
UTSW |
X |
169,109,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R1809:Asmt
|
UTSW |
X |
169,109,480 (GRCm39) |
splice site |
probably benign |
|
R1994:Asmt
|
UTSW |
X |
169,109,524 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4454:Asmt
|
UTSW |
X |
169,106,456 (GRCm39) |
missense |
probably benign |
0.01 |
R4546:Asmt
|
UTSW |
X |
169,110,230 (GRCm39) |
critical splice donor site |
probably null |
|
R4567:Asmt
|
UTSW |
X |
169,110,261 (GRCm39) |
splice site |
probably null |
|
R4889:Asmt
|
UTSW |
X |
169,110,764 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5601:Asmt
|
UTSW |
X |
169,110,127 (GRCm39) |
missense |
probably damaging |
0.98 |
R5687:Asmt
|
UTSW |
X |
169,111,749 (GRCm39) |
missense |
unknown |
|
R6145:Asmt
|
UTSW |
X |
169,108,398 (GRCm39) |
missense |
probably damaging |
0.96 |
R6151:Asmt
|
UTSW |
X |
169,110,202 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6752:Asmt
|
UTSW |
X |
169,110,096 (GRCm39) |
missense |
probably benign |
0.02 |
R7737:Asmt
|
UTSW |
X |
169,110,175 (GRCm39) |
missense |
probably damaging |
0.98 |
R8272:Asmt
|
UTSW |
X |
169,106,460 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9188:Asmt
|
UTSW |
X |
169,111,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R9396:Asmt
|
UTSW |
X |
169,110,141 (GRCm39) |
missense |
probably benign |
0.21 |
R9426:Asmt
|
UTSW |
X |
169,110,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R9491:Asmt
|
UTSW |
X |
169,108,405 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCACCCTCAGCTTAGTGAAG -3'
(R):5'- CACTTCCTGCACCAATGATG -3'
Sequencing Primer
(F):5'- TTAGTGAAGCCCCGCCCAC -3'
(R):5'- GCACCAATGATGTCATTTCCTG -3'
|
Posted On |
2018-06-22 |