Incidental Mutation 'IGL01601:Nat8l'
| ID |
91770 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nat8l
|
| Ensembl Gene |
ENSMUSG00000048142 |
| Gene Name |
N-acetyltransferase 8-like |
| Synonyms |
Shati, 1110038O08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL01601
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
34153328-34163260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34155809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 155
(L155P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056355]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056355
AA Change: L155P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059313
Gene: ENSMUSG00000048142
AA Change: L155P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
|
transmembrane domain
|
116 |
138 |
N/A |
INTRINSIC |
|
Pfam:Acetyltransf_10
|
146 |
261 |
9.4e-13 |
PFAM |
|
Pfam:Acetyltransf_8
|
156 |
280 |
3e-11 |
PFAM |
|
Pfam:Acetyltransf_7
|
177 |
263 |
2.8e-13 |
PFAM |
|
Pfam:Acetyltransf_1
|
184 |
262 |
7.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201041
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a null mutation display abnormal responses to novelty and decreased social investigation in a novel environment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
C |
17: 43,020,940 (GRCm39) |
D628G |
probably benign |
Het |
| Aldh1l1 |
T |
A |
6: 90,568,823 (GRCm39) |
I708N |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,840,555 (GRCm39) |
F985I |
possibly damaging |
Het |
| Arap2 |
A |
G |
5: 62,798,685 (GRCm39) |
W1315R |
probably damaging |
Het |
| Arhgef33 |
C |
A |
17: 80,655,112 (GRCm39) |
Q106K |
probably damaging |
Het |
| Atad5 |
G |
A |
11: 79,986,343 (GRCm39) |
G477S |
probably benign |
Het |
| Chgb |
T |
A |
2: 132,635,411 (GRCm39) |
I451K |
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,754,252 (GRCm39) |
I98N |
probably damaging |
Het |
| Commd1 |
T |
C |
11: 22,849,981 (GRCm39) |
E234G |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,189,528 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
T |
C |
12: 95,746,369 (GRCm39) |
S236P |
probably damaging |
Het |
| Garnl3 |
G |
A |
2: 32,887,701 (GRCm39) |
Q770* |
probably null |
Het |
| Gpr22 |
C |
T |
12: 31,760,044 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,503,164 (GRCm39) |
D3880E |
probably benign |
Het |
| Lgals8 |
T |
C |
13: 12,471,219 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,101 (GRCm39) |
V214A |
probably benign |
Het |
| Nckipsd |
A |
G |
9: 108,691,154 (GRCm39) |
S359G |
probably benign |
Het |
| Pex6 |
A |
C |
17: 47,034,650 (GRCm39) |
N785T |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,023,823 (GRCm39) |
C104S |
unknown |
Het |
| Ptprz1 |
T |
A |
6: 23,000,437 (GRCm39) |
H842Q |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,021 (GRCm39) |
S101T |
probably damaging |
Het |
| Rnf103 |
T |
G |
6: 71,486,167 (GRCm39) |
V266G |
probably damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,296,544 (GRCm39) |
D100G |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,084,872 (GRCm39) |
G1822E |
probably damaging |
Het |
| Tbl3 |
T |
A |
17: 24,921,291 (GRCm39) |
D500V |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,223,047 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,901,806 (GRCm39) |
R524W |
probably benign |
Het |
| Wnk2 |
G |
T |
13: 49,230,038 (GRCm39) |
P829T |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,582,068 (GRCm39) |
N84S |
possibly damaging |
Het |
|
| Other mutations in Nat8l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Nat8l
|
APN |
5 |
34,155,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01335:Nat8l
|
APN |
5 |
34,155,791 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03117:Nat8l
|
APN |
5 |
34,158,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Nat8l
|
UTSW |
5 |
34,158,200 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1750:Nat8l
|
UTSW |
5 |
34,158,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2101:Nat8l
|
UTSW |
5 |
34,155,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4817:Nat8l
|
UTSW |
5 |
34,158,387 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5064:Nat8l
|
UTSW |
5 |
34,154,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5114:Nat8l
|
UTSW |
5 |
34,155,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6470:Nat8l
|
UTSW |
5 |
34,155,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Nat8l
|
UTSW |
5 |
34,154,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Nat8l
|
UTSW |
5 |
34,154,155 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Nat8l
|
UTSW |
5 |
34,158,438 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Posted On |
2013-12-09 |
Incidental Mutation