Mutagenetix > Incidental Mutation

Incidental Mutation 'R9426:Asmt'

712650

Institutional Source

Beutler Lab

Gene Symbol

Asmt

Ensembl Gene

ENSMUSG00000093806

Gene Name

acetylserotonin O-methyltransferase

Synonyms

Hiomt

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9426 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

169106379-169111787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 169110199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 236 (G236E)

Ref Sequence

ENSEMBL: ENSMUSP00000137135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178693]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000178693
AA Change: G236E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137135
Gene: ENSMUSG00000093806
AA Change: G236E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,851,264 (GRCm39)	D2159G	possibly damaging	Het
Adamts8	A	G	9: 30,864,721 (GRCm39)	Y404C	possibly damaging	Het
Adprhl1	A	G	8: 13,274,034 (GRCm39)	F908S	possibly damaging	Het
Arhgef16	A	C	4: 154,366,300 (GRCm39)	L489R	probably damaging	Het
Ces2e	A	G	8: 105,656,220 (GRCm39)	Y177C	probably damaging	Het
Cfap43	A	G	19: 47,814,237 (GRCm39)	I199T	probably damaging	Het
Chac1	T	A	2: 119,183,914 (GRCm39)	F172Y	possibly damaging	Het
Cldnd2	A	T	7: 43,092,688 (GRCm39)	I160F	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Coq10b	C	G	1: 55,106,719 (GRCm39)	L175V	possibly damaging	Het
Cpne6	T	C	14: 55,751,176 (GRCm39)		probably null	Het
Dnai4	A	T	4: 102,906,743 (GRCm39)	I690N	probably damaging	Het
Eif2b3	C	A	4: 116,923,578 (GRCm39)	Y264*	probably null	Het
Fcgbpl1	A	T	7: 27,843,281 (GRCm39)	H723L	possibly damaging	Het
Fhod1	C	T	8: 106,056,490 (GRCm39)	R1100Q	probably benign	Het
Hao1	T	A	2: 134,347,555 (GRCm39)	H250L	probably benign	Het
Has3	A	G	8: 107,600,823 (GRCm39)	Y95C	probably damaging	Het
Hoxc10	A	T	15: 102,879,289 (GRCm39)	K270*	probably null	Het
Kcnq5	A	G	1: 21,473,118 (GRCm39)	F710L	probably benign	Het
Knl1	C	T	2: 118,899,979 (GRCm39)	T560I	possibly damaging	Het
Ltbp1	C	T	17: 75,598,309 (GRCm39)	R597W	possibly damaging	Het
Nfib	T	G	4: 82,416,529 (GRCm39)	T170P	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Optn	T	A	2: 5,059,485 (GRCm39)	E11V	possibly damaging	Het
Or4d2b	A	T	11: 87,780,056 (GRCm39)	L222Q	probably damaging	Het
Phf3	A	T	1: 30,870,625 (GRCm39)	L141*	probably null	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prkcg	C	T	7: 3,375,975 (GRCm39)	S540F	probably damaging	Het
Ptbp1	T	A	10: 79,694,897 (GRCm39)	I75N	probably damaging	Het
R3hdm1	T	C	1: 128,164,212 (GRCm39)	L1042P	probably damaging	Het
Scmh1	T	C	4: 120,362,556 (GRCm39)	V264A	probably benign	Het
Sec23a	A	G	12: 59,053,890 (GRCm39)	V36A	probably benign	Het
Senp2	A	G	16: 21,828,491 (GRCm39)	S34G	probably damaging	Het
Serpina3a	A	G	12: 104,087,649 (GRCm39)	N191D	probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smchd1	C	T	17: 71,672,125 (GRCm39)	S1643N	probably benign	Het
Snrk	T	A	9: 121,986,326 (GRCm39)	Y232N	probably damaging	Het
Spata31h1	T	A	10: 82,126,610 (GRCm39)	K2133N	probably damaging	Het
Spmip3	T	A	1: 177,570,834 (GRCm39)	L56*	probably null	Het
St6galnac6	T	C	2: 32,505,094 (GRCm39)	I202T	probably damaging	Het
Stab2	T	C	10: 86,704,911 (GRCm39)	K1819R	probably damaging	Het
Strn3	T	C	12: 51,694,873 (GRCm39)	T297A	probably damaging	Het
Sult1b1	T	A	5: 87,665,280 (GRCm39)	E218V	probably damaging	Het
Tcp10c	T	C	17: 13,584,463 (GRCm39)	S275P	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Urb2	T	G	8: 124,755,285 (GRCm39)	L331V	probably damaging	Het
Zfp592	A	T	7: 80,674,205 (GRCm39)	T390S	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
R6582:Asmt	UTSW	X	169,108,766 (GRCm39)	critical splice donor site	probably null
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
R9491:Asmt	UTSW	X	169,108,405 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AACAGGATGTGACCTCATGG -3'
(R):5'- CAAAGTGAACGCCGATGTG -3'

Sequencing Primer
(F):5'- CGGAACAGGAAGTGACCTCAC -3'
(R):5'- AACGCCGATGTGCGTTTG -3'

Posted On

2022-05-16