Mutagenetix > Incidental Mutation

Incidental Mutation 'R6668:Aanat'

543531

Institutional Source

Beutler Lab

Gene Symbol

Aanat

Ensembl Gene

ENSMUSG00000020804

Gene Name

arylalkylamine N-acetyltransferase

Synonyms

SNAT, Nat-2, Nat4

MMRRC Submission

044788-MU

Accession Numbers

Essential gene?

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

Stock #

R6668 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116482547-116489022 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 116486868 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]

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

unknown
Transcript: ENSMUST00000123507
AA Change: A55S

SMART Domains

Protein: ENSMUSP00000115999
Gene: ENSMUSG00000020804
AA Change: A55S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153476

SMART Domains

Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (42/42)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	A	T	8: 43,973,727 (GRCm39)	V425D	possibly damaging	Het
Ahctf1	A	G	1: 179,579,972 (GRCm39)	S2077P	probably benign	Het
Amacr	A	G	15: 10,983,468 (GRCm39)	T93A	probably benign	Het
Arsb	T	A	13: 93,930,728 (GRCm39)		probably null	Het
Bcas3	G	A	11: 85,692,677 (GRCm39)	R354Q	probably damaging	Het
Chia1	C	T	3: 106,038,264 (GRCm39)	L387F	probably damaging	Het
Cyp24a1	A	T	2: 170,327,805 (GRCm39)		probably null	Het
Dennd4a	G	A	9: 64,794,247 (GRCm39)	G689S	probably damaging	Het
Elovl4	G	A	9: 83,688,039 (GRCm39)	A18V	probably benign	Het
Fam135a	A	T	1: 24,067,929 (GRCm39)	V80E	probably damaging	Het
Fmo2	T	A	1: 162,704,617 (GRCm39)	T430S	probably benign	Het
Fpgs	T	C	2: 32,577,618 (GRCm39)	I213V	probably benign	Het
Gm10134	A	T	2: 28,396,263 (GRCm39)	R53*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Ift172	T	C	5: 31,412,683 (GRCm39)	N1524S	probably benign	Het
Kif1b	G	A	4: 149,297,864 (GRCm39)	S1104F	probably benign	Het
Map3k21	T	C	8: 126,652,852 (GRCm39)	V326A	possibly damaging	Het
Mlst8	A	G	17: 24,696,453 (GRCm39)		probably null	Het
Muc16	A	T	9: 18,551,681 (GRCm39)	S4871T	probably benign	Het
Myo1d	A	G	11: 80,474,701 (GRCm39)		probably benign	Het
Ndufa3	A	G	7: 3,622,465 (GRCm39)	Y41C	probably damaging	Het
Nfkbid	T	A	7: 30,123,866 (GRCm39)	L142Q	probably benign	Het
Or8b38	T	A	9: 37,973,066 (GRCm39)	M150K	possibly damaging	Het
Peg10	T	A	6: 4,754,502 (GRCm39)	D94E	probably benign	Het
Phactr3	A	T	2: 177,974,657 (GRCm39)	I492F	probably damaging	Het
Plxna2	T	C	1: 194,492,396 (GRCm39)	V1751A	possibly damaging	Het
Prss16	T	C	13: 22,190,918 (GRCm39)	E238G	probably null	Het
Rad51ap2	T	C	12: 11,507,647 (GRCm39)	V523A	probably benign	Het
Rbm33	T	A	5: 28,547,498 (GRCm39)	S223T	probably benign	Het
Ryk	T	A	9: 102,746,475 (GRCm39)	F137I	possibly damaging	Het
Sars2	G	A	7: 28,446,429 (GRCm39)	E194K	probably benign	Het
Spata2l	T	C	8: 123,960,167 (GRCm39)	D374G	probably damaging	Het
Tenm2	A	G	11: 35,937,592 (GRCm39)		probably null	Het
Ubr4	A	G	4: 139,192,652 (GRCm39)	K1097E	probably damaging	Het
Ulk4	A	T	9: 121,017,408 (GRCm39)	V690E	probably damaging	Het
Usp34	A	G	11: 23,410,659 (GRCm39)	N2703S	probably damaging	Het
Zfp273	C	G	13: 67,973,243 (GRCm39)	L124V	probably damaging	Het
Zfp608	A	G	18: 55,031,091 (GRCm39)	S950P	probably damaging	Het
Zfp994	A	T	17: 22,420,081 (GRCm39)	H289Q	probably 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
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'- CTTTGGGAGGCAAATTTGAGAG -3'
(R):5'- AGCCAATGATGAAGGCCAC -3'

Sequencing Primer
(F):5'- TGGGAGGCAAATTTGAGAGCTCTC -3'
(R):5'- TTCCTCAAACCAGCCCAGTG -3'

Posted On

2019-02-18