Incidental Mutation 'R4468:Aanat'
| ID |
329285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aanat
|
| Ensembl Gene |
ENSMUSG00000020804 |
| Gene Name |
arylalkylamine N-acetyltransferase |
| Synonyms |
SNAT, Nat-2, Nat4 |
| MMRRC Submission |
041725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R4468 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116482547-116489022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116487781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 160
(D160V)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000132601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142978
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153476
AA Change: D160V
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804
AA Change: D160V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_1
|
82 |
172 |
4.1e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.4502 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,334,914 (GRCm39) |
Y1962C |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,522,375 (GRCm39) |
M5921L |
probably benign |
Het |
| Bmp2 |
T |
C |
2: 133,396,374 (GRCm39) |
V10A |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
| Ccdc33 |
G |
T |
9: 57,977,155 (GRCm39) |
T282K |
possibly damaging |
Het |
| Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
| Clec4f |
A |
G |
6: 83,629,415 (GRCm39) |
I381T |
probably damaging |
Het |
| Ifit1bl2 |
G |
A |
19: 34,596,468 (GRCm39) |
Q383* |
probably null |
Het |
| Igkv6-15 |
A |
G |
6: 70,383,957 (GRCm39) |
V7A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,737 (GRCm39) |
V143M |
probably benign |
Het |
| Or7g29 |
C |
T |
9: 19,286,944 (GRCm39) |
V78I |
probably benign |
Het |
| Pcdha5 |
T |
C |
18: 37,095,233 (GRCm39) |
S581P |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,173,037 (GRCm39) |
|
probably null |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,668 (GRCm39) |
W100* |
probably null |
Het |
| Prxl2b |
T |
G |
4: 154,981,507 (GRCm39) |
K190T |
probably benign |
Het |
| Pwwp3a |
C |
T |
10: 80,076,570 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
G |
A |
19: 4,250,293 (GRCm39) |
H143Y |
probably benign |
Het |
| Riox2 |
T |
A |
16: 59,296,357 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,994,452 (GRCm39) |
Y1276F |
probably damaging |
Het |
| Rps12-ps24 |
A |
G |
8: 36,493,268 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
G |
A |
9: 119,584,053 (GRCm39) |
L1521F |
probably damaging |
Het |
| Shoc2 |
A |
G |
19: 54,014,845 (GRCm39) |
Y346C |
probably damaging |
Het |
| Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
| Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,992,682 (GRCm39) |
D1726V |
probably damaging |
Het |
| Tns4 |
A |
T |
11: 98,961,241 (GRCm39) |
C646S |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
| Wls |
C |
A |
3: 159,578,564 (GRCm39) |
A42E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAGACATCTGTCCCTTG -3'
(R):5'- CTGTGACATGGGAAGTGGAC -3'
Sequencing Primer
(F):5'- TTGCCCATCCCCAGGAGTC -3'
(R):5'- CATGGGAAGTGGACCGGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation