Incidental Mutation 'IGL02257:Aanat'
ID286640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aanat
Ensembl Gene ENSMUSG00000020804
Gene Namearylalkylamine N-acetyltransferase
SynonymsNat-2, SNAT, Nat4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL02257
Quality Score
Status
Chromosome11
Chromosomal Location116586432-116597680 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 116595709 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 25 (Q25*)
Ref Sequence ENSEMBL: ENSMUSP00000122895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021160] [ENSMUST00000103028] [ENSMUST00000103029] [ENSMUST00000123507] [ENSMUST00000153476]
Predicted Effect probably null
Transcript: ENSMUST00000021160
AA Change: Q25*
SMART Domains Protein: ENSMUSP00000021160
Gene: ENSMUSG00000020804
AA Change: Q25*

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 null
Transcript: ENSMUST00000123507
AA Change: Q25*
SMART Domains Protein: ENSMUSP00000115999
Gene: ENSMUSG00000020804
AA Change: Q25*

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 null
Transcript: ENSMUST00000153476
AA Change: Q25*
SMART Domains Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804
AA Change: Q25*

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 A T 7: 139,987,648 V394D possibly damaging Het
Ahnak2 A G 12: 112,785,285 F314S possibly damaging Het
Arsg T C 11: 109,521,647 probably benign Het
Atp13a2 T G 4: 141,006,089 V958G probably benign Het
BC003331 A T 1: 150,386,404 I95N probably damaging Het
Ces5a T C 8: 93,525,598 D218G probably benign Het
Cntnap4 T A 8: 112,616,494 L63Q probably damaging Het
Cped1 A G 6: 22,145,607 T655A possibly damaging Het
Ddc A T 11: 11,873,171 L133* probably null Het
Fat4 C T 3: 39,001,139 A4169V probably benign Het
Gnpat T C 8: 124,886,848 probably benign Het
Gpd2 A G 2: 57,364,524 D678G probably benign Het
Hk1 T C 10: 62,271,643 D851G probably benign Het
Hsd11b2 G A 8: 105,523,222 V322I probably benign Het
Hsd17b3 G A 13: 64,059,462 T255M probably benign Het
Hsp90b1 T C 10: 86,698,589 S284G probably damaging Het
Med1 T A 11: 98,180,270 I69L probably damaging Het
Morn3 T G 5: 123,037,725 D200A probably damaging Het
Mtss1 A G 15: 58,956,545 V173A probably damaging Het
Mut C T 17: 40,938,734 T200I possibly damaging Het
Myl6b T C 10: 128,497,341 probably benign Het
Nin A G 12: 70,102,691 V48A possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1490 G A 19: 13,655,265 V279I probably benign Het
Phlpp2 T A 8: 109,920,099 V529E possibly damaging Het
Pnlip G A 19: 58,673,874 V151I probably benign Het
Pus7 A C 5: 23,762,461 H247Q probably damaging Het
Setd6 T C 8: 95,716,692 Y188H probably damaging Het
Siglecg T C 7: 43,411,904 S444P probably benign Het
Sox9 C A 11: 112,784,985 H333Q possibly damaging Het
Specc1 T A 11: 62,118,417 I333N probably damaging Het
Tmprss11e G A 5: 86,724,180 T59I probably damaging Het
Vmn2r93 A C 17: 18,325,508 probably benign Het
Vrk2 A T 11: 26,534,266 V163D probably damaging Het
Other mutations in Aanat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01642:Aanat APN 11 116595688 missense possibly damaging 0.94
IGL02649:Aanat APN 11 116595646 missense probably benign 0.38
R0894:Aanat UTSW 11 116596904 missense probably benign 0.41
R3771:Aanat UTSW 11 116596871 missense probably damaging 1.00
R3792:Aanat UTSW 11 116596231 missense probably damaging 1.00
R3864:Aanat UTSW 11 116596816 missense probably damaging 1.00
R4468:Aanat UTSW 11 116596955 missense possibly damaging 0.47
R5585:Aanat UTSW 11 116596973 missense probably damaging 1.00
R6013:Aanat UTSW 11 116596124 critical splice acceptor site probably null
R6668:Aanat UTSW 11 116596042 intron probably benign
R7424:Aanat UTSW 11 116595629 start gained probably benign
R8090:Aanat UTSW 11 116596191 missense probably damaging 1.00
X0020:Aanat UTSW 11 116596798 missense probably benign 0.34
Posted On2015-04-16