Mutagenetix > Incidental Mutation

Incidental Mutation 'R9685:Aanat'

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Institutional Source

Beutler Lab

Gene Symbol

Aanat

Ensembl Gene

ENSMUSG00000020804

Gene Name

arylalkylamine N-acetyltransferase

Synonyms

SNAT, Nat-2, Nat4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9685 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116482547-116489022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 116487681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 127 (T127P)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
PDB:1IB1\|H	3	53	6e-16	PDB
SCOP:d1cjwa_	28	59	1e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153476
AA Change: T127P

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804
AA Change: T127P

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	82	172	4.1e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	G	T	16: 64,586,823 (GRCm39)	N300K	possibly damaging	Het
A130010J15Rik	G	A	1: 192,857,065 (GRCm39)	R139H	probably benign	Het
Acp4	G	A	7: 43,906,733 (GRCm39)		probably benign	Het
Arhgef5	T	G	6: 43,250,527 (GRCm39)	I426S	probably benign	Het
Bcl2a1a	T	C	9: 88,839,185 (GRCm39)	S28P	probably benign	Het
Cd163	T	C	6: 124,288,384 (GRCm39)	S272P	possibly damaging	Het
Cdk13	C	A	13: 17,978,542 (GRCm39)	R232L	unknown	Het
Clrn2	A	G	5: 45,611,331 (GRCm39)	D60G	possibly damaging	Het
Cnot6l	A	G	5: 96,230,749 (GRCm39)	L406P	probably damaging	Het
Cspg4	T	G	9: 56,797,622 (GRCm39)	V1362G	probably benign	Het
Cspp1	C	T	1: 10,196,639 (GRCm39)	S939L	probably benign	Het
Dcaf1	C	T	9: 106,713,818 (GRCm39)	T145I	probably benign	Het
Ddx28	T	C	8: 106,736,733 (GRCm39)	S442G	probably benign	Het
Dnajc3	A	T	14: 119,209,775 (GRCm39)	R283S	probably benign	Het
Dsc1	G	A	18: 20,232,087 (GRCm39)	T307I	possibly damaging	Het
Elovl5	T	C	9: 77,868,291 (GRCm39)	Y68H	probably damaging	Het
Fam25a	G	A	14: 34,077,266 (GRCm39)	T17I	probably damaging	Het
Fryl	T	C	5: 73,216,879 (GRCm39)	E2137G	probably damaging	Het
Gm10142	A	G	10: 77,551,762 (GRCm39)	Q41R	unknown	Het
Grm1	T	C	10: 10,564,775 (GRCm39)	T1178A	possibly damaging	Het
Hhip	A	T	8: 80,723,363 (GRCm39)	H430Q	probably damaging	Het
Hip1	A	G	5: 135,478,676 (GRCm39)	F178L	probably damaging	Het
Impa1	T	A	3: 10,393,430 (GRCm39)	I58L	probably benign	Het
Irak4	T	A	15: 94,451,812 (GRCm39)	V135E	probably benign	Het
Jup	A	C	11: 100,274,237 (GRCm39)	L151R	probably damaging	Het
Lrrn4cl	T	A	19: 8,829,419 (GRCm39)	N132K	probably damaging	Het
Mapkbp1	C	A	2: 119,851,664 (GRCm39)	R863S	probably benign	Het
Or8k16	T	C	2: 85,519,866 (GRCm39)	F31S	probably damaging	Het
Pramel14	T	A	4: 143,719,520 (GRCm39)	M282L	probably benign	Het
Rasa4	A	G	5: 136,124,383 (GRCm39)	D144G	probably benign	Het
Rrs1	T	A	1: 9,616,390 (GRCm39)	S214R	probably benign	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtca	T	A	3: 116,293,225 (GRCm39)	R195S	probably benign	Het
Scaper	A	T	9: 55,771,835 (GRCm39)	S360R	probably benign	Het
Scarb1	A	T	5: 125,371,194 (GRCm39)	F293I	possibly damaging	Het
Snapc1	T	C	12: 74,017,115 (GRCm39)		probably null	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Spta1	T	C	1: 174,032,925 (GRCm39)	V994A	probably damaging	Het
Synpo2	T	C	3: 122,911,366 (GRCm39)	E93G	probably damaging	Het
Ubr4	A	G	4: 139,191,341 (GRCm39)	T985A	unknown	Het
Vmn1r18	T	C	6: 57,367,463 (GRCm39)	I30M	possibly damaging	Het
Vmn2r15	A	G	5: 109,440,598 (GRCm39)	V420A	probably benign	Het
Vmn2r6	A	G	3: 64,464,081 (GRCm39)	V251A	probably benign	Het
Zfyve16	A	T	13: 92,659,311 (GRCm39)	I200N	possibly damaging	Het

Other mutations in Aanat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
X0020:Aanat	UTSW	11	116,487,624 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- AGGACTTTAGATGTAGGTAGCAGTG -3'
(R):5'- AGGAACACTGTAGCTCCGTG -3'

Sequencing Primer
(F):5'- TCCTGTCTGGTAAGGGAACC -3'
(R):5'- ACACTGTAGCTCCGTGAAGGTG -3'

Posted On

2022-10-06