Mutagenetix > Incidental Mutation

Incidental Mutation 'R8090:Aanat'

629904

Institutional Source

Beutler Lab

Gene Symbol

Aanat

Ensembl Gene

ENSMUSG00000020804

Gene Name

arylalkylamine N-acetyltransferase

Synonyms

SNAT, Nat-2, Nat4

MMRRC Submission

067523-MU

Accession Numbers

Essential gene?

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

Stock #

R8090 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116482547-116489022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116487017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 75 (C75R)

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: C75R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021160
Gene: ENSMUSG00000020804
AA Change: C75R

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

probably damaging
Transcript: ENSMUST00000153476
AA Change: C75R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804
AA Change: C75R

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 92.1%

Validation Efficiency

99% (73/74)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	A	G	9: 121,738,045 (GRCm39)	D140G	possibly damaging	Het
Adgrv1	C	A	13: 81,596,953 (GRCm39)		probably null	Het
Arpp21	A	G	9: 111,945,769 (GRCm39)	L593S	unknown	Het
Atn1	G	A	6: 124,722,304 (GRCm39)	P850S	unknown	Het
Capn13	G	A	17: 73,689,849 (GRCm39)	S54L	probably benign	Het
Cd1d2	C	T	3: 86,893,964 (GRCm39)	P5S	possibly damaging	Het
Cgn	A	G	3: 94,687,263 (GRCm39)	V13A	probably damaging	Het
Clint1	T	C	11: 45,778,267 (GRCm39)	V136A	probably damaging	Het
Cox5a	T	A	9: 57,436,346 (GRCm39)	L66M	probably damaging	Het
Crb2	G	T	2: 37,685,503 (GRCm39)	C1205F	probably damaging	Het
Ddx3y	C	T	Y: 1,264,897 (GRCm39)	S519N	probably benign	Het
Defb50	G	A	8: 22,321,087 (GRCm39)	G26S	probably damaging	Het
Dock8	T	C	19: 25,131,606 (GRCm39)	L1112P	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Gm9837	A	G	11: 53,361,065 (GRCm39)	S50P	unknown	Het
Gon4l	A	G	3: 88,799,931 (GRCm39)	I859V	probably damaging	Het
Grin3a	A	T	4: 49,714,224 (GRCm39)	D840E	probably damaging	Het
Ifit2	T	A	19: 34,550,662 (GRCm39)	N67K	possibly damaging	Het
Il17re	G	A	6: 113,439,250 (GRCm39)	W53*	probably null	Het
Kbtbd4	A	T	2: 90,736,183 (GRCm39)		probably benign	Het
Krt25	T	A	11: 99,207,416 (GRCm39)		probably null	Het
Krt26	T	C	11: 99,227,315 (GRCm39)	M171V	probably benign	Het
Lrba	T	C	3: 86,255,796 (GRCm39)	L1046S	probably benign	Het
Lrp2	G	T	2: 69,295,089 (GRCm39)	P3410T	possibly damaging	Het
Madd	T	C	2: 90,985,968 (GRCm39)	K1241R	probably benign	Het
Mcm8	T	G	2: 132,673,569 (GRCm39)	S402A	probably benign	Het
Mpc1	A	C	17: 8,515,705 (GRCm39)	Q74H	probably benign	Het
Mroh4	A	G	15: 74,496,550 (GRCm39)	V279A	probably benign	Het
Muc21	G	C	17: 35,932,617 (GRCm39)	T523S	unknown	Het
Ndufs2	A	T	1: 171,064,247 (GRCm39)	H380Q	probably damaging	Het
Nkx2-6	T	C	14: 69,409,465 (GRCm39)	L72P	possibly damaging	Het
Nme6	T	A	9: 109,671,019 (GRCm39)	L73*	probably null	Het
Odf2l	G	T	3: 144,832,796 (GRCm39)	A85S	probably damaging	Het
Or51ac3	A	T	7: 103,214,048 (GRCm39)	I146K	probably benign	Het
P4ha3	T	A	7: 99,949,859 (GRCm39)	C109S	probably damaging	Het
Plpp6	C	T	19: 28,942,271 (GRCm39)	Q291*	probably null	Het
Plxnd1	G	A	6: 115,933,578 (GRCm39)	A1855V	probably damaging	Het
Ptcd1	A	T	5: 145,096,345 (GRCm39)	H249Q	possibly damaging	Het
Rnf149	C	A	1: 39,616,304 (GRCm39)	A18S	unknown	Het
Scara5	C	T	14: 65,979,586 (GRCm39)	R368*	probably null	Het
Sfmbt2	G	A	2: 10,466,190 (GRCm39)	D342N	probably benign	Het
Shank3	T	A	15: 89,389,661 (GRCm39)		probably null	Het
Slc22a27	A	G	19: 7,843,101 (GRCm39)		probably null	Het
Srgap3	G	T	6: 112,757,996 (GRCm39)	Y170*	probably null	Het
Szt2	A	T	4: 118,244,199 (GRCm39)		probably null	Het
Tbccd1	A	G	16: 22,660,805 (GRCm39)	S4P	probably benign	Het
Tcf20	A	G	15: 82,740,207 (GRCm39)	S415P	probably damaging	Het
Tdrd9	T	C	12: 111,982,369 (GRCm39)	S487P	probably damaging	Het
Trim26	A	G	17: 37,167,640 (GRCm39)	Q300R	possibly damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Yif1b	A	G	7: 28,943,726 (GRCm39)	N93S	probably benign	Het
Zdhhc22	C	A	12: 87,030,394 (GRCm39)	V185F	probably benign	Het
Zfp638	G	T	6: 83,906,801 (GRCm39)	S322I	probably damaging	Het
Zfp786	T	A	6: 47,796,943 (GRCm39)	H665L	probably damaging	Het
Zfp799	C	T	17: 33,039,949 (GRCm39)	V106I	probably benign	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
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'- TGTGCTCTAGTGTAAGAAGCAAC -3'
(R):5'- CACTCTAAAGGGATGGGCAG -3'

Sequencing Primer
(F):5'- TCTAGTGTAAGAAGCAACAGCCCAG -3'
(R):5'- GGAGCTCTTGCCTTGGGAG -3'

Posted On

2020-06-30