Mutagenetix > Incidental Mutation

Incidental Mutation 'R4546:Asmt'

377768

Institutional Source

Beutler Lab

Gene Symbol

Asmt

Ensembl Gene

ENSMUSG00000093806

Gene Name

acetylserotonin O-methyltransferase

Synonyms

Hiomt

MMRRC Submission

041780-MU

Accession Numbers

Essential gene?

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

Stock #

R4546 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

169106379-169111787 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 169110230 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (65/67)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	G	A	14: 70,393,927 (GRCm39)	S236L	probably benign	Het
Ahcyl	C	T	16: 45,974,330 (GRCm39)	C349Y	possibly damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Alpi	T	A	1: 87,026,839 (GRCm39)	Y413F	probably damaging	Het
Atf7	A	G	15: 102,442,762 (GRCm39)	V449A	probably benign	Het
Bnc2	A	G	4: 84,210,213 (GRCm39)	F744L	probably benign	Het
Ccnyl1	G	T	1: 64,762,735 (GRCm39)	M347I	probably benign	Het
Cdk13	T	C	13: 17,941,159 (GRCm39)	K21R	probably damaging	Het
Cenpf	A	C	1: 189,386,847 (GRCm39)	L1811R	probably damaging	Het
Cfap91	C	T	16: 38,155,885 (GRCm39)	V113I	probably benign	Het
Cr2	A	G	1: 194,853,349 (GRCm39)	I43T	possibly damaging	Het
Cspg4	T	A	9: 56,795,913 (GRCm39)	L1216Q	possibly damaging	Het
Cylc2	A	T	4: 51,229,840 (GRCm39)	D394V	unknown	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Dcaf8	T	C	1: 172,007,460 (GRCm39)		probably benign	Het
Dlec1	A	T	9: 118,957,146 (GRCm39)	I796F	probably damaging	Het
Dnah12	A	T	14: 26,494,971 (GRCm39)	Q1343L	probably damaging	Het
Dnajc21	T	C	15: 10,447,183 (GRCm39)	R522G	probably benign	Het
F2rl3	C	T	8: 73,489,211 (GRCm39)	A146V	probably benign	Het
Fastkd1	C	T	2: 69,542,655 (GRCm39)	E51K	probably damaging	Het
Glrb	T	C	3: 80,786,993 (GRCm39)	S57G	probably damaging	Het
Gm5507	T	A	18: 54,117,409 (GRCm39)		noncoding transcript	Het
Golga4	A	G	9: 118,385,913 (GRCm39)	K22E	probably damaging	Het
Hdac1-ps	A	T	17: 78,800,388 (GRCm39)	T460S	probably benign	Het
Ift122	T	A	6: 115,867,549 (GRCm39)	L433Q	probably damaging	Het
Il21r	A	G	7: 125,228,071 (GRCm39)	R181G	probably damaging	Het
Il5ra	G	T	6: 106,715,459 (GRCm39)	S125*	probably null	Het
Kdm7a	T	C	6: 39,152,406 (GRCm39)	R97G	probably benign	Het
Lepr	T	A	4: 101,671,838 (GRCm39)	I954N	probably benign	Het
Lims1	T	C	10: 58,254,612 (GRCm39)		probably benign	Het
Mest	T	C	6: 30,740,679 (GRCm39)	W13R	probably damaging	Het
Mfn2	A	G	4: 147,971,909 (GRCm39)	V224A	probably benign	Het
Muc15	T	C	2: 110,567,844 (GRCm39)	S330P	probably damaging	Het
Ncapg	T	C	5: 45,828,554 (GRCm39)	F102L	probably damaging	Het
Nkd2	T	C	13: 73,971,475 (GRCm39)	D187G	probably benign	Het
Nphp1	C	T	2: 127,607,939 (GRCm39)		probably null	Het
Or10ag59	T	C	2: 87,405,530 (GRCm39)	F34S	probably benign	Het
Or1e19	T	C	11: 73,316,012 (GRCm39)	N266D	probably benign	Het
Or2a12	C	T	6: 42,904,348 (GRCm39)	S61L	probably damaging	Het
Osbpl6	T	C	2: 76,414,836 (GRCm39)	V409A	possibly damaging	Het
Pdhx	A	T	2: 102,903,742 (GRCm39)	L18Q	probably null	Het
Pear1	C	T	3: 87,661,968 (GRCm39)	G469D	probably damaging	Het
Plec	T	C	15: 76,065,757 (GRCm39)	T1506A	probably benign	Het
Plod3	T	A	5: 137,017,801 (GRCm39)	D192E	possibly damaging	Het
Rbks	T	C	5: 31,781,912 (GRCm39)	N296S	probably benign	Het
Sema3c	G	A	5: 17,899,770 (GRCm39)	V421I	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Tmem200c	A	G	17: 69,149,166 (GRCm39)	D583G	probably benign	Het
Trpm6	A	G	19: 18,809,841 (GRCm39)	Y1079C	probably damaging	Het
Ttn	T	C	2: 76,652,932 (GRCm39)		probably null	Het
Vcp	T	C	4: 42,988,813 (GRCm39)		probably benign	Het
Vmn2r78	T	C	7: 86,603,811 (GRCm39)	V663A	probably damaging	Het
Vmn2r9	T	G	5: 108,995,551 (GRCm39)	M366L	probably benign	Het
Wdr11	A	G	7: 129,230,729 (GRCm39)	E878G	probably damaging	Het
Zan	C	G	5: 137,382,096 (GRCm39)	M5150I	unknown	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
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
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'- AACAGGATGTGACCTCATGG -3'
(R):5'- TTTTGCAAAGTGAACGCCG -3'

Sequencing Primer
(F):5'- TGACCTCACCGGAGACAG -3'
(R):5'- AGTGAACGCCGATGTGC -3'

Posted On

2016-04-04