Incidental Mutation 'IGL02649:Aanat'
ID 302080
Institutional Source Australian Phenomics Network (link to record)
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: 0.058) question?
Stock # IGL02649
Quality Score
Status
Chromosome 11
Chromosomal Location 116482547-116489022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116486472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 4 (I4F)
Ref Sequence ENSEMBL: ENSMUSP00000021160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021160] [ENSMUST00000103028] [ENSMUST00000103029] [ENSMUST00000123507] [ENSMUST00000153476]
AlphaFold O88816
Predicted Effect probably benign
Transcript: ENSMUST00000021160
AA Change: I4F

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021160
Gene: ENSMUSG00000020804
AA Change: I4F

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
AA Change: I4F

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115999
Gene: ENSMUSG00000020804
AA Change: I4F

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: ENSMUST00000142978
Predicted Effect probably benign
Transcript: ENSMUST00000153476
AA Change: I4F

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804
AA Change: I4F

DomainStartEndE-ValueType
Pfam:Acetyltransf_1 82 172 4.1e-14 PFAM
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T G 7: 66,499,626 (GRCm39) probably benign Het
Adcy1 A T 11: 7,117,156 (GRCm39) M1008L probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atrnl1 T G 19: 57,638,873 (GRCm39) probably benign Het
Brd3 T A 2: 27,344,362 (GRCm39) E456V probably damaging Het
Cabin1 A T 10: 75,573,252 (GRCm39) L712H probably damaging Het
Ccna1 T A 3: 54,961,807 (GRCm39) T38S probably damaging Het
Chadl T A 15: 81,580,059 (GRCm39) I59F probably benign Het
Chmp3 T C 6: 71,529,417 (GRCm39) M27T possibly damaging Het
Clcn1 C T 6: 42,275,763 (GRCm39) T295I probably damaging Het
Col6a6 A G 9: 105,604,369 (GRCm39) probably null Het
Dennd2a T A 6: 39,447,290 (GRCm39) H776L probably benign Het
Dimt1 G A 13: 107,085,219 (GRCm39) R55K probably benign Het
Dlg5 T A 14: 24,196,319 (GRCm39) D1626V probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Hectd4 T C 5: 121,487,465 (GRCm39) S3487P possibly damaging Het
Hivep1 T C 13: 42,310,787 (GRCm39) V1009A possibly damaging Het
Ifna12 A T 4: 88,521,091 (GRCm39) V152E probably damaging Het
Igf2r A T 17: 12,930,974 (GRCm39) C903S possibly damaging Het
Ipo9 T C 1: 135,313,672 (GRCm39) D1002G possibly damaging Het
Isyna1 T C 8: 71,048,904 (GRCm39) S328P probably damaging Het
Itprid2 T C 2: 79,472,303 (GRCm39) probably benign Het
Lamc1 G A 1: 153,122,788 (GRCm39) T764I possibly damaging Het
Lta4h T C 10: 93,308,831 (GRCm39) V377A probably benign Het
Lyz2 C T 10: 117,118,090 (GRCm39) V20I probably benign Het
Myo3a A T 2: 22,328,418 (GRCm39) L329F probably benign Het
Nlgn2 T C 11: 69,716,628 (GRCm39) T638A probably benign Het
Oasl2 A G 5: 115,035,753 (GRCm39) T10A probably damaging Het
Or14j8 A T 17: 38,263,864 (GRCm39) F17Y probably damaging Het
Or5k1 T A 16: 58,617,713 (GRCm39) R165S probably damaging Het
Pde10a A T 17: 9,172,604 (GRCm39) N296I probably damaging Het
Plb1 A G 5: 32,519,912 (GRCm39) I1385M probably benign Het
Pld1 T C 3: 28,141,378 (GRCm39) V647A probably damaging Het
Pnp T C 14: 51,185,303 (GRCm39) probably benign Het
Ppl A T 16: 4,905,327 (GRCm39) I1656K probably damaging Het
Rimbp3 G T 16: 17,027,472 (GRCm39) E299* probably null Het
Sbsn C A 7: 30,452,683 (GRCm39) A566D probably damaging Het
Sh3rf1 T A 8: 61,816,225 (GRCm39) M494K probably damaging Het
Slc2a2 T A 3: 28,772,885 (GRCm39) V226E probably damaging Het
Smarca2 T A 19: 26,617,986 (GRCm39) I339N possibly damaging Het
Tenm2 G T 11: 36,097,912 (GRCm39) S445R possibly damaging Het
Tlcd5 C A 9: 43,022,783 (GRCm39) K190N probably benign Het
Tnip2 A T 5: 34,671,075 (GRCm39) L56Q probably damaging Het
Trpv1 C T 11: 73,141,612 (GRCm39) S485F probably damaging Het
Vmn2r23 T C 6: 123,681,437 (GRCm39) M115T probably benign Het
Zbtb38 G A 9: 96,568,672 (GRCm39) T804I probably damaging Het
Zfhx3 T C 8: 109,520,167 (GRCm39) S430P 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
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
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
Posted On 2015-04-16