Incidental Mutation 'R3792:Aanat'
ID 272600
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 # R3792 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 116482547-116489022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116487057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 88 (L88P)
Ref Sequence ENSEMBL: ENSMUSP00000122895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021160] [ENSMUST00000103028] [ENSMUST00000103029] [ENSMUST00000123507] [ENSMUST00000153476]
AlphaFold O88816
Predicted Effect probably damaging
Transcript: ENSMUST00000021160
AA Change: L88P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021160
Gene: ENSMUSG00000020804
AA Change: L88P

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: L88P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804
AA Change: L88P

DomainStartEndE-ValueType
Pfam:Acetyltransf_1 82 172 4.1e-14 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A G X: 80,464,423 (GRCm39) V428A probably benign Het
Arhgap5 A T 12: 52,566,671 (GRCm39) N1214I probably benign Het
BC034090 A T 1: 155,117,543 (GRCm39) S192T probably damaging Het
Bco1 G A 8: 117,857,415 (GRCm39) V461I possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cripto C T 9: 110,772,258 (GRCm39) R46Q probably benign Het
Cubn G A 2: 13,432,725 (GRCm39) R1199C probably damaging Het
Dcaf12l1 T C X: 43,877,313 (GRCm39) N495S possibly damaging Het
Dop1b C A 16: 93,568,734 (GRCm39) Q1599K possibly damaging Het
Dyrk1a C A 16: 94,485,933 (GRCm39) L427I probably benign Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Esyt3 A T 9: 99,197,334 (GRCm39) F832Y possibly damaging Het
F8 A T X: 74,328,971 (GRCm39) probably null Het
Fam135a T C 1: 24,067,392 (GRCm39) Y259C probably benign Het
Fbxo38 T C 18: 62,666,533 (GRCm39) probably null Het
Fbxo43 T C 15: 36,163,005 (GRCm39) I67M probably benign Het
Gcfc2 G T 6: 81,907,748 (GRCm39) C154F probably benign Het
Hipk2 C T 6: 38,675,491 (GRCm39) R1029H probably damaging Het
Ilk G A 7: 105,391,294 (GRCm39) W73* probably null Het
Ism1 T C 2: 139,582,173 (GRCm39) S162P probably damaging Het
Itpkb T A 1: 180,160,738 (GRCm39) L288Q possibly damaging Het
Itpr2 C A 6: 146,316,852 (GRCm39) K306N probably damaging Het
Kdm2a C T 19: 4,374,540 (GRCm39) E864K possibly damaging Het
Kdm4b G A 17: 56,662,944 (GRCm39) V172M probably damaging Het
Kyat3 A T 3: 142,443,605 (GRCm39) K406M probably null Het
Lipe T A 7: 25,097,045 (GRCm39) K299N possibly damaging Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Mptx2 T A 1: 173,102,240 (GRCm39) I150F probably damaging Het
Mroh2b G T 15: 4,953,102 (GRCm39) W612L probably damaging Het
Mucl2 T C 15: 103,928,692 (GRCm39) T27A possibly damaging Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Oprm1 T C 10: 6,789,544 (GRCm39) S390P probably benign Het
Or2m12 A G 16: 19,104,696 (GRCm39) S266P possibly damaging Het
Or51v8 A T 7: 103,319,353 (GRCm39) I295N probably damaging Het
Pcdhb14 T C 18: 37,582,715 (GRCm39) L607P probably damaging Het
Rap1gds1 A T 3: 138,671,721 (GRCm39) I133N probably damaging Het
Rasl10a T C 11: 5,009,461 (GRCm39) L83S probably damaging Het
Satb2 C T 1: 56,884,779 (GRCm39) V382M probably damaging Het
Sh3gl1 T C 17: 56,325,949 (GRCm39) K160R probably damaging Het
Sirt4 T C 5: 115,618,351 (GRCm39) D241G probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spef2 A G 15: 9,704,622 (GRCm39) I454T probably damaging Het
Stag3 A G 5: 138,296,611 (GRCm39) K490E probably benign Het
Tcstv7b G T 13: 120,702,467 (GRCm39) V88F probably damaging Het
Tctn3 T C 19: 40,600,155 (GRCm39) K95R probably benign Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Ttc21a A T 9: 119,783,231 (GRCm39) E511V probably damaging Het
Ttn A G 2: 76,542,232 (GRCm39) F25258L probably damaging Het
Ttn A C 2: 76,639,290 (GRCm39) C13828G probably damaging Het
Vmn1r210 T A 13: 23,011,573 (GRCm39) M238L probably damaging Het
Vmn1r38 A G 6: 66,753,891 (GRCm39) I75T probably benign Het
Vmn2r84 T A 10: 130,221,669 (GRCm39) *850C probably null Het
Vwa7 T C 17: 35,244,135 (GRCm39) probably null Het
Zfp128 T A 7: 12,618,659 (GRCm39) D52E probably damaging Het
Zfp618 T C 4: 63,033,728 (GRCm39) probably benign Het
Zkscan2 T A 7: 123,084,225 (GRCm39) E633V 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
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
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'- TCTGTGCACAAACAGCAGGC -3'
(R):5'- TCCTACAGTTCGGGACTCTAAAG -3'

Sequencing Primer
(F):5'- TGCACAAACAGCAGGCAAGTG -3'
(R):5'- AGCAATTCTCAACCTGTGGG -3'
Posted On 2015-03-25