Incidental Mutation 'R5601:Asmt'
ID 439052
Institutional Source Beutler Lab
Gene Symbol Asmt
Ensembl Gene ENSMUSG00000093806
Gene Name acetylserotonin O-methyltransferase
Synonyms Hiomt
MMRRC Submission 043153-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5601 (G1)
Quality Score 191
Status Not validated
Chromosome X
Chromosomal Location 169106379-169111787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 169110127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 212 (V212A)
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: V212A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137135
Gene: ENSMUSG00000093806
AA Change: V212A

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.3%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 G A 13: 91,931,029 (GRCm39) V426I probably benign Het
Atn1 A G 6: 124,720,191 (GRCm39) probably null Het
Auts2 G T 5: 131,505,662 (GRCm39) probably benign Het
AW551984 C T 9: 39,502,563 (GRCm39) V672M possibly damaging Het
Bltp3a C A 17: 28,103,468 (GRCm39) A392D probably damaging Het
Ccdc13 G A 9: 121,629,638 (GRCm39) Q114* probably null Het
Ces2e A T 8: 105,656,126 (GRCm39) I146F probably benign Het
Cfap44 A G 16: 44,280,549 (GRCm39) K1443E probably damaging Het
Cma2 T A 14: 56,211,246 (GRCm39) H179Q possibly damaging Het
Cpsf2 G T 12: 101,951,614 (GRCm39) probably null Het
Cwh43 A G 5: 73,575,283 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dram1 A G 10: 88,160,629 (GRCm39) S231P probably damaging Het
Fbxw7 A G 3: 84,883,515 (GRCm39) D482G probably damaging Het
Fstl1 T C 16: 37,647,161 (GRCm39) I177T probably benign Het
Fut9 T C 4: 25,620,299 (GRCm39) T172A probably benign Het
Gm5134 G A 10: 75,821,786 (GRCm39) V207M probably damaging Het
Hccs G A X: 168,096,597 (GRCm39) R203C probably damaging Het
Hmgxb3 A T 18: 61,270,694 (GRCm39) F877I probably damaging Het
Ide A G 19: 37,292,379 (GRCm39) V272A unknown Het
Impact C T 18: 13,109,064 (GRCm39) T65I probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Muc17 A G 5: 137,166,863 (GRCm39) S309P probably damaging Het
Myf6 A C 10: 107,330,475 (GRCm39) S31A probably damaging Het
Or4n4b C A 14: 50,536,318 (GRCm39) W149C probably damaging Het
Or8b35 C G 9: 37,904,010 (GRCm39) T74R possibly damaging Het
P4hb T A 11: 120,462,441 (GRCm39) E88D possibly damaging Het
Pcdhb9 T C 18: 37,535,259 (GRCm39) C418R probably damaging Het
Pramel51 T C 12: 88,142,817 (GRCm39) D267G probably damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prss58 A T 6: 40,874,783 (GRCm39) N19K possibly damaging Het
Ptprq C T 10: 107,444,291 (GRCm39) A1438T probably benign Het
Rfx4 A T 10: 84,634,442 (GRCm39) T61S probably damaging Het
Sclt1 T A 3: 41,685,354 (GRCm39) N35Y probably benign Het
Sec24b CTG CTGGTG 3: 129,834,483 (GRCm39) probably benign Het
Serpinb12 T C 1: 106,881,427 (GRCm39) I188T probably damaging Het
Slc27a4 A T 2: 29,695,672 (GRCm39) Y69F probably benign Het
Slc3a1 T C 17: 85,340,319 (GRCm39) V247A probably benign Het
Slc4a2 C T 5: 24,643,772 (GRCm39) T854I probably benign Het
Stat5b G A 11: 100,674,001 (GRCm39) T761M probably damaging Het
Stkld1 T C 2: 26,842,717 (GRCm39) L563P probably damaging Het
Tbc1d23 C A 16: 57,018,672 (GRCm39) C283F probably benign Het
Tcaf3 T C 6: 42,564,462 (GRCm39) N900S possibly damaging Het
Tkfc T C 19: 10,571,927 (GRCm39) T370A probably benign Het
Tpr T C 1: 150,311,604 (GRCm39) V1868A possibly damaging Het
Triobp T A 15: 78,857,833 (GRCm39) W1145R probably damaging Het
Vmn2r82 T G 10: 79,232,025 (GRCm39) L675V probably damaging Het
Zfp423 T C 8: 88,508,637 (GRCm39) E444G probably damaging Het
Other mutations in Asmt
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAGGGTTCAGGAAGTGACATC -3'
(R):5'- ACTTGAAGTTGTGGCCAGGG -3'

Sequencing Primer
(F):5'- CACTCCAAGCTTCATAACAGGATGTG -3'
(R):5'- TGATTGAAGGCCCGGGATG -3'
Posted On 2016-10-26