Mutagenetix > Incidental Mutation

Incidental Mutation 'R4567:Asmt'

386338

Institutional Source

Beutler Lab

Gene Symbol

Asmt

Ensembl Gene

ENSMUSG00000093806

Gene Name

acetylserotonin O-methyltransferase

Synonyms

Hiomt

MMRRC Submission

041791-MU

Accession Numbers

Essential gene?

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

Stock #

R4567 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

169106379-169111787 bp(+) (GRCm39)

Type of Mutation

splice site (33 bp from exon)

DNA Base Change (assembly)

A to G at 169110261 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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (38/40)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,315,499 (GRCm39)	L182Q	probably damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Alg12	T	C	15: 88,690,556 (GRCm39)		probably benign	Het
Atp10b	T	C	11: 43,088,384 (GRCm39)	I330T	probably benign	Het
Ceacam23	T	C	7: 17,642,891 (GRCm39)	S434P	probably damaging	Het
Dennd5a	T	C	7: 109,498,942 (GRCm39)	M998V	probably benign	Het
Erbb3	A	G	10: 128,414,944 (GRCm39)	S401P	probably damaging	Het
Gm10718	A	T	9: 3,023,716 (GRCm39)	T56S	probably benign	Het
Gm1527	A	T	3: 28,968,556 (GRCm39)	N203Y	probably damaging	Het
Hsf2bp	C	T	17: 32,165,708 (GRCm39)	V296M	probably benign	Het
Htr1d	T	A	4: 136,170,836 (GRCm39)	V355E	probably benign	Het
Ints11	T	C	4: 155,970,132 (GRCm39)	V203A	probably damaging	Het
Iqsec3	A	G	6: 121,364,721 (GRCm39)	V856A	probably damaging	Het
Nherf4	C	A	9: 44,160,323 (GRCm39)	V294L	possibly damaging	Het
Or2ag1b	G	A	7: 106,288,420 (GRCm39)	Q173*	probably null	Het
Or2y6	T	C	11: 52,104,291 (GRCm39)	H175R	probably damaging	Het
Or5t18	A	G	2: 86,637,146 (GRCm39)	S66P	probably damaging	Het
Phf11	A	T	14: 59,488,627 (GRCm39)	Y57N	probably damaging	Het
Ppfia2	G	A	10: 106,701,267 (GRCm39)		probably null	Het
Prss23	T	A	7: 89,160,074 (GRCm39)		probably benign	Het
Rasl2-9	AGG	A	7: 5,128,374 (GRCm39)		probably null	Het
Rcn2	A	T	9: 55,960,266 (GRCm39)	I178F	probably benign	Het
Rtn1	C	T	12: 72,259,261 (GRCm39)		probably benign	Het
Sik2	A	G	9: 50,909,876 (GRCm39)	V59A	probably damaging	Het
Slc25a42	A	T	8: 70,641,504 (GRCm39)	M159K	probably damaging	Het
Slc9a4	T	C	1: 40,619,737 (GRCm39)	L21P	probably damaging	Het
Smap2	A	C	4: 120,842,508 (GRCm39)	W41G	probably damaging	Het
Sox6	T	C	7: 115,261,557 (GRCm39)	I220V	probably benign	Het
Spata31e2	T	C	1: 26,722,198 (GRCm39)	D994G	probably benign	Het
Syt17	A	G	7: 118,033,495 (GRCm39)	V171A	probably benign	Het
Tjp1	A	G	7: 64,956,249 (GRCm39)	F1332S	probably damaging	Het
Trim3	C	T	7: 105,262,623 (GRCm39)	V512I	possibly damaging	Het
Uhmk1	G	A	1: 170,032,686 (GRCm39)	Q282*	probably null	Het
Ushbp1	G	A	8: 71,838,361 (GRCm39)	R648W	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
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'- GGAACAGGAAGTGACCTCAC -3'
(R):5'- ACATTAATTAGCATGCGGGCAAAG -3'

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

Posted On

2016-05-13