Incidental Mutation 'R6013:Aanat'
ID 479868
Institutional Source Beutler Lab
Gene Symbol Aanat
Ensembl Gene ENSMUSG00000020804
Gene Name arylalkylamine N-acetyltransferase
Synonyms SNAT, Nat-2, Nat4
MMRRC Submission 044189-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6013 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116482547-116489022 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 116486950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021160] [ENSMUST00000103028] [ENSMUST00000103029] [ENSMUST00000123507] [ENSMUST00000153476] [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 probably null
Transcript: ENSMUST00000153476
SMART Domains Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804

DomainStartEndE-ValueType
Pfam:Acetyltransf_1 82 172 4.1e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000153476
SMART Domains Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804

DomainStartEndE-ValueType
Pfam:Acetyltransf_1 82 172 4.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142978
Meta Mutation Damage Score 0.9711 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 98% (54/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik C T 3: 6,682,310 (GRCm39) probably null Het
Abca17 A T 17: 24,506,820 (GRCm39) V1178E possibly damaging Het
Abcf3 T A 16: 20,369,311 (GRCm39) probably null Het
Alk A G 17: 72,207,732 (GRCm39) M1001T probably benign Het
Arhgap23 C A 11: 97,391,818 (GRCm39) S1445Y probably damaging Het
Atp10a T C 7: 58,447,538 (GRCm39) I760T probably benign Het
Cadm1 C T 9: 47,768,572 (GRCm39) probably benign Het
Car10 A T 11: 93,076,105 (GRCm39) probably benign Het
Casq2 G T 3: 102,052,945 (GRCm39) probably null Het
Cemip2 G A 19: 21,809,403 (GRCm39) V928I possibly damaging Het
Clec4f T C 6: 83,632,070 (GRCm39) I55V probably benign Het
Cngb1 T C 8: 96,010,949 (GRCm39) probably benign Het
Csn1s2b A G 5: 87,972,098 (GRCm39) probably null Het
Cyp2c39 A C 19: 39,501,969 (GRCm39) R119S probably benign Het
Cyp4f16 C T 17: 32,765,652 (GRCm39) A345V probably null Het
Ddx43 T C 9: 78,321,567 (GRCm39) L412S probably damaging Het
Dnajb12 G A 10: 59,730,163 (GRCm39) probably null Het
Ephx2 A G 14: 66,347,691 (GRCm39) S56P probably benign Het
Fam83h A G 15: 75,875,849 (GRCm39) F496S probably damaging Het
Gcnt4 T C 13: 97,083,786 (GRCm39) S361P possibly damaging Het
H2-T23 G T 17: 36,341,474 (GRCm39) H332Q probably benign Het
Hrob T C 11: 102,145,859 (GRCm39) V45A probably benign Het
Ift57 G T 16: 49,519,667 (GRCm39) probably null Het
Il1rl2 A G 1: 40,391,017 (GRCm39) H320R possibly damaging Het
Kansl1 A G 11: 104,241,465 (GRCm39) V618A probably benign Het
Kctd3 T C 1: 188,728,665 (GRCm39) E157G probably benign Het
Magohb T A 6: 131,270,037 (GRCm39) D31V possibly damaging Het
Mdn1 C A 4: 32,715,713 (GRCm39) F1993L probably damaging Het
Med29 C A 7: 28,086,418 (GRCm39) C130F probably benign Het
Mtmr7 G A 8: 41,034,570 (GRCm39) R251C probably damaging Het
Ncor1 T C 11: 62,211,903 (GRCm39) I49V probably benign Het
Nfkb1 G T 3: 135,332,445 (GRCm39) T109K possibly damaging Het
Pkd1l1 A G 11: 8,819,452 (GRCm39) probably null Het
Pkp1 T A 1: 135,811,648 (GRCm39) T408S probably damaging Het
Plec A T 15: 76,073,510 (GRCm39) D501E possibly damaging Het
Prcp A C 7: 92,576,976 (GRCm39) Y335S possibly damaging Het
Reg2 T A 6: 78,384,952 (GRCm39) Y165N possibly damaging Het
Rnf7 T C 9: 96,353,787 (GRCm39) *114W probably null Het
Scg3 T C 9: 75,584,090 (GRCm39) D137G probably damaging Het
Serpinb7 T C 1: 107,377,919 (GRCm39) V204A probably benign Het
Sez6 C T 11: 77,864,623 (GRCm39) H528Y probably damaging Het
Sf3b1 A T 1: 55,039,457 (GRCm39) S723T probably damaging Het
Shtn1 T C 19: 58,963,533 (GRCm39) D594G probably damaging Het
Sptbn4 A G 7: 27,063,904 (GRCm39) L2174P probably damaging Het
Stk25 A G 1: 93,553,181 (GRCm39) probably null Het
Tep1 A T 14: 51,098,505 (GRCm39) F429I probably damaging Het
Thada T A 17: 84,580,228 (GRCm39) I1409F probably benign Het
Usp25 G A 16: 76,873,909 (GRCm39) G495E probably benign Het
Washc2 A G 6: 116,231,114 (GRCm39) S844G probably damaging Het
Xirp2 A T 2: 67,341,287 (GRCm39) H1176L possibly damaging Het
Ypel1 T C 16: 16,918,129 (GRCm39) N96D probably damaging Het
Zfand6 C A 7: 84,281,900 (GRCm39) V110L probably benign Het
Zfp30 A G 7: 29,488,846 (GRCm39) R8G 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
R3864:Aanat UTSW 11 116,487,642 (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
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'- CCTTTGGGAGGCAAATTTGAGAG -3'
(R):5'- ACGCTTTGCTTCTGAAGGAGAC -3'

Sequencing Primer
(F):5'- TGGGAGGCAAATTTGAGAGCTCTC -3'
(R):5'- AGGAGACTTCCATCCCCG -3'
Posted On 2017-06-26