Mutagenetix > Incidental Mutation

Incidental Mutation 'R5687:Asmt'

443467

Institutional Source

Beutler Lab

Gene Symbol

Asmt

Ensembl Gene

ENSMUSG00000093806

Gene Name

acetylserotonin O-methyltransferase

Synonyms

Hiomt

MMRRC Submission

043320-MU

Accession Numbers

Essential gene?

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

Stock #

R5687 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

169106379-169111787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 169111749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 377 (S377I)

Ref Sequence

ENSEMBL: ENSMUSP00000137135 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000178693
AA Change: S377I

SMART Domains

Protein: ENSMUSP00000137135
Gene: ENSMUSG00000093806
AA Change: S377I

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

0.0869

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (72/73)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,223,852 (GRCm39)	D1292V	probably benign	Het
Adcy2	A	T	13: 68,768,938 (GRCm39)	C1063*	probably null	Het
Adcy2	A	T	13: 68,790,688 (GRCm39)	V892D	probably damaging	Het
Agtpbp1	T	C	13: 59,648,329 (GRCm39)	D497G	probably benign	Het
Anks1b	A	C	10: 90,750,573 (GRCm39)	I195L	probably benign	Het
C1s1	T	A	6: 124,517,909 (GRCm39)	T24S	probably benign	Het
Ccdc85a	A	T	11: 28,342,854 (GRCm39)		probably benign	Het
Ccndbp1	T	C	2: 120,845,183 (GRCm39)		probably benign	Het
Cct8	T	C	16: 87,285,709 (GRCm39)	I250V	probably benign	Het
Cmya5	T	C	13: 93,234,684 (GRCm39)	T135A	possibly damaging	Het
Col11a1	T	C	3: 114,010,752 (GRCm39)		probably benign	Het
Crybg3	A	G	16: 59,379,529 (GRCm39)	M575T	probably benign	Het
Dmp1	C	T	5: 104,354,952 (GRCm39)		probably benign	Het
Emc1	G	T	4: 139,102,691 (GRCm39)	R950L	probably damaging	Het
Enpep	T	C	3: 129,092,743 (GRCm39)		probably null	Het
Eya1	G	A	1: 14,253,476 (GRCm39)	T500I	probably damaging	Het
Fam169a	T	C	13: 97,230,126 (GRCm39)	F54L	probably damaging	Het
Fbxo8	A	G	8: 57,044,552 (GRCm39)	K285R	probably damaging	Het
Galnt1	A	T	18: 24,405,807 (GRCm39)	E416D	probably benign	Het
Gcc1	T	A	6: 28,419,232 (GRCm39)		probably null	Het
Gm10800	T	A	2: 98,496,965 (GRCm39)	Y196F	probably benign	Het
Gmpr	T	A	13: 45,692,496 (GRCm39)		probably null	Het
Jrkl	C	T	9: 13,244,387 (GRCm39)	E425K	probably benign	Het
Kl	T	G	5: 150,911,931 (GRCm39)	I560S	possibly damaging	Het
Kyat3	C	A	3: 142,440,343 (GRCm39)	R356S	probably null	Het
Lrig2	C	T	3: 104,371,388 (GRCm39)		probably null	Het
Lrrc47	A	G	4: 154,100,140 (GRCm39)	T239A	probably benign	Het
Map4k2	T	C	19: 6,395,672 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,844,144 (GRCm39)	S1469P	probably damaging	Het
Mthfd1l	G	A	10: 3,940,002 (GRCm39)		probably null	Het
Mvk	G	T	5: 114,588,826 (GRCm39)	G144V	probably damaging	Het
Nasp	T	A	4: 116,463,002 (GRCm39)		probably benign	Het
Ndst4	A	C	3: 125,232,258 (GRCm39)	N276H	possibly damaging	Het
Nsmf	C	T	2: 24,946,079 (GRCm39)	P189S	probably damaging	Het
Nt5m	T	G	11: 59,743,649 (GRCm39)	D92E	probably benign	Het
Or10g6	T	G	9: 39,933,731 (GRCm39)	L14R	probably damaging	Het
Or4k39	T	C	2: 111,239,033 (GRCm39)		noncoding transcript	Het
Or4p23	A	T	2: 88,577,094 (GRCm39)	I46N	probably damaging	Het
Pan3	T	A	5: 147,391,982 (GRCm39)	I119N	probably damaging	Het
Pard6b	A	T	2: 167,940,546 (GRCm39)	S178C	probably damaging	Het
Parl	A	G	16: 20,106,728 (GRCm39)		probably benign	Het
Pdk2	A	G	11: 94,919,851 (GRCm39)		probably benign	Het
Prag1	A	G	8: 36,613,967 (GRCm39)	E1173G	probably benign	Het
Prph2	T	A	17: 47,234,391 (GRCm39)	L320Q	probably damaging	Het
Psmd3	T	C	11: 98,584,495 (GRCm39)	I200T	probably damaging	Het
Rhbdd3	T	A	11: 5,055,707 (GRCm39)	S324T	probably damaging	Het
Rps6-ps2	A	T	8: 89,533,112 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Samd4	A	G	14: 47,254,022 (GRCm39)	N61S	probably benign	Het
Sfrp2	G	A	3: 83,674,146 (GRCm39)	A100T	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc6a13	A	G	6: 121,279,700 (GRCm39)	T25A	probably benign	Het
Sntg1	C	A	1: 8,533,667 (GRCm39)	R329L	possibly damaging	Het
Sorbs2	T	C	8: 46,228,669 (GRCm39)	F285L	probably damaging	Het
Speg	T	C	1: 75,395,773 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,661,541 (GRCm39)	Y533C	probably damaging	Het
Supt5	C	A	7: 28,017,188 (GRCm39)	S668I	probably benign	Het
Taf6l	T	G	19: 8,750,676 (GRCm39)	I133L	probably benign	Het
Thrap3	G	A	4: 126,074,279 (GRCm39)		probably benign	Het
Tmem115	A	G	9: 107,412,054 (GRCm39)	N126S	probably benign	Het
Trgc1	A	T	13: 19,400,729 (GRCm39)	I153F	unknown	Het
Tspoap1	T	A	11: 87,667,952 (GRCm39)	I1192N	probably damaging	Het
Vcan	T	C	13: 89,826,253 (GRCm39)	I3184V	probably damaging	Het
Yeats4	G	A	10: 117,051,585 (GRCm39)	T224M	probably benign	Het
Zc3h13	A	T	14: 75,569,400 (GRCm39)	R1416*	probably null	Het
Zmynd12	T	A	4: 119,299,098 (GRCm39)	Y193N	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
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

Posted On

2016-11-09