Incidental Mutation 'R3864:Aanat'
ID 276463
Institutional Source Beutler Lab
Gene Symbol Aanat
Ensembl Gene ENSMUSG00000020804
Gene Name arylalkylamine N-acetyltransferase
Synonyms SNAT, Nat-2, Nat4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R3864 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 116482547-116489022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116487642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 114 (G114S)
Ref Sequence ENSEMBL: ENSMUSP00000122895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021160] [ENSMUST00000103028] [ENSMUST00000103029] [ENSMUST00000123507] [ENSMUST00000153476]
AlphaFold O88816
Predicted Effect probably benign
Transcript: ENSMUST00000021160
SMART Domains Protein: ENSMUSP00000021160
Gene: ENSMUSG00000020804

DomainStartEndE-ValueType
PDB:1KUY|A 3 104 1e-50 PDB
SCOP:d1cjwa_ 28 103 4e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103028
SMART Domains Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806

DomainStartEndE-ValueType
Pfam:Rhomboid_SP 98 306 1.8e-98 PFAM
transmembrane domain 376 398 N/A INTRINSIC
Pfam:Rhomboid 619 763 4.6e-31 PFAM
transmembrane domain 775 797 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103029
SMART Domains Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806

DomainStartEndE-ValueType
Pfam:Rhomboid_SP 98 304 4.7e-97 PFAM
transmembrane domain 376 398 N/A INTRINSIC
Pfam:Rhomboid 619 763 8.1e-31 PFAM
transmembrane domain 775 797 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123507
SMART Domains Protein: ENSMUSP00000115999
Gene: ENSMUSG00000020804

DomainStartEndE-ValueType
PDB:1IB1|H 3 53 6e-16 PDB
SCOP:d1cjwa_ 28 59 1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142978
Predicted Effect probably damaging
Transcript: ENSMUST00000153476
AA Change: G114S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804
AA Change: G114S

DomainStartEndE-ValueType
Pfam:Acetyltransf_1 82 172 4.1e-14 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mutations in this gene result in abnormal melatonin production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G A 14: 118,853,827 (GRCm39) A360V probably benign Het
Catsper1 T C 19: 5,386,204 (GRCm39) S146P possibly damaging Het
Ccny A T 18: 9,449,604 (GRCm39) L23Q probably damaging Het
Chml A T 1: 175,515,810 (GRCm39) V37D probably damaging Het
Cspg4b A G 13: 113,459,485 (GRCm39) T1339A possibly damaging Het
D430041D05Rik T C 2: 104,044,522 (GRCm39) I825M possibly damaging Het
Dhx40 A T 11: 86,680,071 (GRCm39) V422E possibly damaging Het
Evi2 T A 11: 79,406,472 (GRCm39) I368F probably benign Het
Gm10309 A C 17: 86,806,421 (GRCm39) probably benign Het
Greb1 G A 12: 16,752,421 (GRCm39) R974W probably damaging Het
Grhl1 T C 12: 24,665,929 (GRCm39) *619Q probably null Het
Ighv1-7 A G 12: 114,502,266 (GRCm39) I67T probably damaging Het
Lats1 T C 10: 7,581,510 (GRCm39) V765A probably damaging Het
Lrrd1 G A 5: 3,901,248 (GRCm39) V518I probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Marchf11 C T 15: 26,387,952 (GRCm39) A269V probably damaging Het
Mep1b A G 18: 21,217,226 (GRCm39) N115S possibly damaging Het
Mfn1 A G 3: 32,617,241 (GRCm39) D41G possibly damaging Het
Naa25 T A 5: 121,547,260 (GRCm39) M132K probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pcdhb3 A G 18: 37,436,329 (GRCm39) E765G probably damaging Het
Scfd2 T G 5: 74,558,381 (GRCm39) K499Q possibly damaging Het
Tbc1d2 T C 4: 46,620,484 (GRCm39) D442G probably benign Het
Wwc1 T A 11: 35,801,143 (GRCm39) D98V probably damaging Het
Zfp426 G A 9: 20,381,382 (GRCm39) T521I possibly damaging Het
Other mutations in Aanat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Aanat APN 11 116,486,514 (GRCm39) missense possibly damaging 0.94
IGL02257:Aanat APN 11 116,486,535 (GRCm39) nonsense probably null
IGL02649:Aanat APN 11 116,486,472 (GRCm39) missense probably benign 0.38
R0894:Aanat UTSW 11 116,487,730 (GRCm39) missense probably benign 0.41
R3771:Aanat UTSW 11 116,487,697 (GRCm39) missense probably damaging 1.00
R3792:Aanat UTSW 11 116,487,057 (GRCm39) missense probably damaging 1.00
R4468:Aanat UTSW 11 116,487,781 (GRCm39) missense possibly damaging 0.47
R5585:Aanat UTSW 11 116,487,799 (GRCm39) missense probably damaging 1.00
R6013:Aanat UTSW 11 116,486,950 (GRCm39) critical splice acceptor site probably null
R6668:Aanat UTSW 11 116,486,868 (GRCm39) intron probably benign
R7424:Aanat UTSW 11 116,486,455 (GRCm39) start gained probably benign
R8090:Aanat UTSW 11 116,487,017 (GRCm39) missense probably damaging 1.00
R9685:Aanat UTSW 11 116,487,681 (GRCm39) missense possibly damaging 0.63
X0020:Aanat UTSW 11 116,487,624 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- ACTGTAGGACTTTAGATGTAGGTAGC -3'
(R):5'- ACTGTAGCTCCGTGAAGGTG -3'

Sequencing Primer
(F):5'- AGCAGTGGGGTCCTGTC -3'
(R):5'- ACAGCCTGGAAGCCAAATTTCTC -3'
Posted On 2015-04-06