Mutagenetix > Incidental Mutation

Incidental Mutation 'R7737:Asmt'

596353

Institutional Source

Beutler Lab

Gene Symbol

Asmt

Ensembl Gene

ENSMUSG00000093806

Gene Name

acetylserotonin O-methyltransferase

Synonyms

Hiomt

MMRRC Submission

045793-MU

Accession Numbers

Essential gene?

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

Stock #

R7737 (G1)

Quality Score

164.009

Status

Validated

Chromosome

Chromosomal Location

169106379-169111787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 169110175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 228 (F228S)

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: F228S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137135
Gene: ENSMUSG00000093806
AA Change: F228S

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: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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
Adamts18	A	T	8: 114,463,566 (GRCm39)		probably null	Het
Akap3	T	A	6: 126,851,065 (GRCm39)	M861K	probably damaging	Het
Ankrd42	T	C	7: 92,254,470 (GRCm39)	T380A	possibly damaging	Het
Arhgef5	A	G	6: 43,250,728 (GRCm39)	E493G	possibly damaging	Het
Arvcf	G	A	16: 18,214,966 (GRCm39)	R119Q	probably damaging	Het
Atp2c2	T	A	8: 120,469,134 (GRCm39)	V349E	probably damaging	Het
BC034090	A	G	1: 155,117,419 (GRCm39)	V233A	possibly damaging	Het
Brinp3	G	T	1: 146,558,332 (GRCm39)	K85N	probably damaging	Het
Ccr6	G	A	17: 8,463,926 (GRCm39)		probably benign	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Ddb1	C	T	19: 10,603,338 (GRCm39)	A882V	possibly damaging	Het
Epha4	C	T	1: 77,357,649 (GRCm39)	G783D	probably damaging	Het
Ephb1	T	A	9: 101,861,302 (GRCm39)	I621F	probably damaging	Het
Fbxw18	G	T	9: 109,530,331 (GRCm39)	Y93*	probably null	Het
Fcgbpl1	T	A	7: 27,856,498 (GRCm39)	V2095E	probably damaging	Het
Gak	A	C	5: 108,764,874 (GRCm39)	L84R	probably benign	Het
Gm5458	A	T	14: 19,649,805 (GRCm39)		probably null	Het
Gpatch3	C	G	4: 133,302,407 (GRCm39)	Q113E	probably benign	Het
Gpld1	C	A	13: 25,159,709 (GRCm39)	L426M	probably damaging	Het
Ighmbp2	G	A	19: 3,324,467 (GRCm39)	P234S	unknown	Het
Itga6	G	A	2: 71,652,787 (GRCm39)	V217I	probably benign	Het
Kdm7a	A	T	6: 39,121,338 (GRCm39)	N872K	probably benign	Het
Klhl14	G	T	18: 21,691,191 (GRCm39)	Y446*	probably null	Het
Larp4b	T	A	13: 9,220,679 (GRCm39)		probably null	Het
Lct	A	T	1: 128,226,430 (GRCm39)	W1320R	probably benign	Het
Lrp2	T	C	2: 69,326,782 (GRCm39)	D1763G	possibly damaging	Het
Lrrk2	A	T	15: 91,699,649 (GRCm39)	N2499Y	probably damaging	Het
Lsg1	T	C	16: 30,400,003 (GRCm39)		probably null	Het
Mettl15	T	C	2: 108,967,723 (GRCm39)	K188E	probably damaging	Het
Mfsd4b1	A	G	10: 39,879,274 (GRCm39)	S208P	probably damaging	Het
Mlxipl	T	C	5: 135,164,235 (GRCm39)	S793P	possibly damaging	Het
Ms4a14	G	A	19: 11,280,150 (GRCm39)	Q803*	probably null	Het
Mtor	A	C	4: 148,623,195 (GRCm39)	E2015A	possibly damaging	Het
Myo15b	A	T	11: 115,778,749 (GRCm39)	Y2581F	unknown	Het
Myo7b	A	T	18: 32,147,257 (GRCm39)	Y95*	probably null	Het
Nf1	A	G	11: 79,436,314 (GRCm39)	I1985V	probably benign	Het
Noxred1	G	A	12: 87,268,136 (GRCm39)	Q332*	probably null	Het
Nudt21	A	T	8: 94,749,461 (GRCm39)	Y202N	probably damaging	Het
Odad2	A	G	18: 7,217,890 (GRCm39)	L608P	probably damaging	Het
Or1j16	A	T	2: 36,530,632 (GRCm39)	I194F	probably benign	Het
Pik3c2a	A	T	7: 115,955,488 (GRCm39)	S1176T	probably damaging	Het
Pramel14	A	C	4: 143,718,526 (GRCm39)	S306A	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rbmxl1	A	G	8: 79,232,252 (GRCm39)	S364P	unknown	Het
Rnf24	T	A	2: 131,145,416 (GRCm39)	K131N	probably benign	Het
Scai	T	A	2: 39,013,034 (GRCm39)	Q132L	probably damaging	Het
Sh3tc1	T	C	5: 35,881,297 (GRCm39)	R49G	probably benign	Het
Slc12a7	A	G	13: 73,936,796 (GRCm39)	E152G	probably benign	Het
Slc22a27	A	T	19: 7,874,127 (GRCm39)	M316K	probably damaging	Het
Spag1	G	T	15: 36,210,856 (GRCm39)	A427S	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stk16	G	T	1: 75,187,995 (GRCm39)	C8F	probably damaging	Het
Syne2	T	C	12: 75,989,622 (GRCm39)	C1834R	probably damaging	Het
Tie1	C	T	4: 118,336,054 (GRCm39)		probably null	Het
Timp2	A	G	11: 118,194,721 (GRCm39)	I156T	probably damaging	Het
Tmem163	A	G	1: 127,419,347 (GRCm39)	M286T	possibly damaging	Het
Tmx4	T	A	2: 134,481,588 (GRCm39)	M112L	probably benign	Het
Trank1	G	T	9: 111,195,080 (GRCm39)	E1035*	probably null	Het
Trim5	C	T	7: 103,928,771 (GRCm39)	V57M	probably damaging	Het
Ubr3	A	G	2: 69,821,910 (GRCm39)	S1391G	probably benign	Het
Vmn1r72	A	T	7: 11,403,634 (GRCm39)	S271R	probably damaging	Het
Xpo5	G	A	17: 46,547,016 (GRCm39)		probably null	Het
Zfp592	A	T	7: 80,674,941 (GRCm39)	H635L	probably damaging	Het
Zfp791	A	T	8: 85,838,844 (GRCm39)	N62K	probably benign	Het
Zfp998	A	G	13: 66,581,738 (GRCm39)		probably null	Het
Zmynd11	G	A	13: 9,745,175 (GRCm39)	T248M	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
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'- TCATAACAGGATGTGACCTCATG -3'
(R):5'- CAAAGTGAACGCCGATGTGC -3'

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

Posted On

2019-11-26