Mutagenetix > Incidental Mutation

Incidental Mutation 'R8272:Asmt'

637819

Institutional Source

Beutler Lab

Gene Symbol

Asmt

Ensembl Gene

ENSMUSG00000093806

Gene Name

acetylserotonin O-methyltransferase

Synonyms

Hiomt

MMRRC Submission

067695-MU

Accession Numbers

Essential gene?

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

Stock #

R8272 (G1)

Quality Score

133.264

Status

Not validated

Chromosome

Chromosomal Location

169106379-169111787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 169106460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 20 (D20V)

Ref Sequence

ENSEMBL: ENSMUSP00000137135 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178693
AA Change: D20V

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137135
Gene: ENSMUSG00000093806
AA Change: D20V

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: 99.9%
10x: 99.6%
20x: 98.6%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	G	A	2: 103,856,499 (GRCm39)	R21C	unknown	Het
4933407L21Rik	G	T	1: 85,859,118 (GRCm39)	E90*	probably null	Het
Abca15	A	G	7: 120,006,665 (GRCm39)	Y1643C	probably damaging	Het
Adtrp	G	T	13: 41,969,630 (GRCm39)	A123D	probably damaging	Het
Bid	T	C	6: 120,877,176 (GRCm39)	E55G	probably damaging	Het
Brd3	A	G	2: 27,351,725 (GRCm39)	V176A	probably benign	Het
Btnl2	G	T	17: 34,575,275 (GRCm39)		probably null	Het
Card11	A	G	5: 140,875,794 (GRCm39)	S562P	probably damaging	Het
Carmil1	T	G	13: 24,220,562 (GRCm39)	H1054P	probably benign	Het
Casp8	T	G	1: 58,872,901 (GRCm39)	M259R	probably damaging	Het
Ccin	G	A	4: 43,984,064 (GRCm39)	R157H	probably damaging	Het
Cfap45	G	A	1: 172,355,406 (GRCm39)	R18Q	possibly damaging	Het
Chuk	A	G	19: 44,092,175 (GRCm39)	I41T	possibly damaging	Het
Col28a1	G	A	6: 8,154,175 (GRCm39)	P333L	possibly damaging	Het
Cspg4b	A	T	13: 113,504,889 (GRCm39)	D1979V		Het
Ctnna3	T	G	10: 64,838,377 (GRCm39)	V818G	probably damaging	Het
Cyp4f18	G	T	8: 72,742,935 (GRCm39)	L456M	probably benign	Het
Ddx50	A	G	10: 62,457,256 (GRCm39)	V598A	probably benign	Het
Dhrs7b	C	A	11: 60,742,580 (GRCm39)	Q91K	probably benign	Het
Dnah11	T	A	12: 118,074,752 (GRCm39)	T1367S	probably benign	Het
Fam98b	T	A	2: 117,093,335 (GRCm39)	C183S	probably benign	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fbxw15	A	C	9: 109,388,828 (GRCm39)	S194A	probably benign	Het
Flrt3	G	T	2: 140,502,617 (GRCm39)	P337Q	probably damaging	Het
Gm12695	A	G	4: 96,612,183 (GRCm39)	Y527H	possibly damaging	Het
Gramd1b	T	C	9: 40,215,820 (GRCm39)	T677A	probably benign	Het
Grm8	A	T	6: 27,363,281 (GRCm39)	S745T	probably damaging	Het
Kctd8	T	C	5: 69,267,803 (GRCm39)	K436E	probably benign	Het
Klf5	G	T	14: 99,539,540 (GRCm39)	A318S	possibly damaging	Het
L3mbtl3	C	T	10: 26,179,566 (GRCm39)	V505M	unknown	Het
Letm2	A	G	8: 26,076,672 (GRCm39)	L310P	probably damaging	Het
Lrrc4	T	C	6: 28,662,192 (GRCm39)	H174R	unknown	Het
Myh11	T	C	16: 14,036,718 (GRCm39)	S995G		Het
Myh7b	A	T	2: 155,474,824 (GRCm39)	E1787D	probably damaging	Het
Myoc	T	C	1: 162,466,995 (GRCm39)	S55P	probably benign	Het
Naaladl2	T	C	3: 24,112,366 (GRCm39)	Q572R	probably damaging	Het
Nanog	T	A	6: 122,688,736 (GRCm39)	S131T	probably benign	Het
Nifk	A	G	1: 118,260,134 (GRCm39)	K230E	probably benign	Het
Nlrp10	A	G	7: 108,525,103 (GRCm39)	S126P	probably benign	Het
Npc1l1	T	A	11: 6,179,327 (GRCm39)	K28*	probably null	Het
Or13m2-ps1	A	G	6: 42,778,038 (GRCm39)	D121G	probably damaging	Het
Or5b102	G	A	19: 13,040,795 (GRCm39)	V7M	possibly damaging	Het
Pcdhac2	T	A	18: 37,279,242 (GRCm39)	C741S	probably benign	Het
Pcx	A	T	19: 4,651,758 (GRCm39)	N45I	probably damaging	Het
Peak1	A	G	9: 56,166,182 (GRCm39)	V582A	probably damaging	Het
Plcxd3	G	T	15: 4,546,218 (GRCm39)	R74L	probably damaging	Het
Ptpn21	G	A	12: 98,654,789 (GRCm39)	A726V	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rimbp3	T	C	16: 17,026,969 (GRCm39)	V131A	possibly damaging	Het
Rrp1b	A	G	17: 32,276,163 (GRCm39)	K570R	probably benign	Het
Serpinb1a	A	T	13: 33,029,720 (GRCm39)	F167L	probably damaging	Het
Slc12a1	T	C	2: 125,070,736 (GRCm39)	L1076S	probably damaging	Het
Sspo	A	T	6: 48,425,453 (GRCm39)	T25S	probably benign	Het
Syvn1	G	A	19: 6,097,971 (GRCm39)	R3H	probably damaging	Het
Tead2	A	G	7: 44,878,166 (GRCm39)	E280G	probably benign	Het
Tmem263	T	A	10: 84,950,431 (GRCm39)	V74E	possibly damaging	Het
Tmem38b	T	A	4: 53,854,332 (GRCm39)	L188Q	probably damaging	Het
Tmod4	C	T	3: 95,033,171 (GRCm39)	T55I	probably damaging	Het
Tmprss12	A	T	15: 100,180,146 (GRCm39)	E62V	probably benign	Het
Trim27	G	A	13: 21,364,780 (GRCm39)	C39Y	probably benign	Het
Vmn2r110	A	G	17: 20,816,490 (GRCm39)	L11S	probably damaging	Het
Vmn2r125	A	G	4: 156,702,373 (GRCm39)	Y53C	probably damaging	Het
Vmn2r65	A	T	7: 84,596,817 (GRCm39)	F79L	probably benign	Het
Vps13a	A	G	19: 16,727,209 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,345,142 (GRCm39)	T1174A	probably benign	Het
Zfhx4	T	G	3: 5,308,927 (GRCm39)	S718A	probably damaging	Het
Zfp78	A	G	7: 6,376,213 (GRCm39)	T41A	probably benign	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
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

Posted On

2020-07-28