Incidental Mutation 'R5064:Nat8l'
| ID |
459862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nat8l
|
| Ensembl Gene |
ENSMUSG00000048142 |
| Gene Name |
N-acetyltransferase 8-like |
| Synonyms |
Shati, 1110038O08Rik |
| MMRRC Submission |
042654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5064 (G1)
|
| Quality Score |
27 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
34153328-34163260 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34154213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 9
(V9A)
|
| 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: V9A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000059313
Gene: ENSMUSG00000048142
AA Change: V9A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201732
|
| Meta Mutation Damage Score |
0.1227 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.1%
|
| Validation Efficiency |
100% (44/44) |
| 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 |
|---|
| Abca12 |
A |
G |
1: 71,340,119 (GRCm39) |
V1082A |
probably damaging |
Het |
| Adamts7 |
T |
A |
9: 90,077,883 (GRCm39) |
Y1496N |
probably damaging |
Het |
| Ascl2 |
T |
C |
7: 142,521,996 (GRCm39) |
N151D |
possibly damaging |
Het |
| Asxl3 |
G |
T |
18: 22,649,076 (GRCm39) |
S355I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,448,278 (GRCm39) |
Q127R |
probably damaging |
Het |
| Efhc1 |
T |
A |
1: 21,045,187 (GRCm39) |
I401N |
possibly damaging |
Het |
| Eml6 |
C |
T |
11: 29,699,300 (GRCm39) |
V1818I |
probably benign |
Het |
| Grin1 |
G |
T |
2: 25,193,843 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,140,100 (GRCm39) |
R244H |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mllt6 |
C |
A |
11: 97,564,775 (GRCm39) |
A527E |
probably damaging |
Het |
| Msh5 |
G |
T |
17: 35,262,759 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
A |
10: 62,959,150 (GRCm39) |
D1057V |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,469,167 (GRCm39) |
|
probably null |
Het |
| Niban1 |
A |
G |
1: 151,565,410 (GRCm39) |
I247V |
probably benign |
Het |
| Nr1h2 |
G |
A |
7: 44,201,073 (GRCm39) |
A219V |
possibly damaging |
Het |
| Nup155 |
C |
A |
15: 8,165,354 (GRCm39) |
H663Q |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,292,566 (GRCm39) |
Y1339C |
probably damaging |
Het |
| Plppr1 |
A |
T |
4: 49,319,974 (GRCm39) |
H200L |
probably benign |
Het |
| Por |
T |
C |
5: 135,762,649 (GRCm39) |
V421A |
probably benign |
Het |
| Pxylp1 |
T |
G |
9: 96,736,853 (GRCm39) |
|
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,448 (GRCm39) |
V74I |
probably benign |
Het |
| Sfxn1 |
T |
C |
13: 54,239,588 (GRCm39) |
I37T |
probably benign |
Het |
| Thsd7a |
G |
T |
6: 12,330,951 (GRCm39) |
T1397N |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,785,946 (GRCm39) |
|
probably null |
Het |
| Vmn1r55 |
A |
T |
7: 5,149,928 (GRCm39) |
M165K |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,534 (GRCm39) |
M787K |
probably damaging |
Het |
| Vta1 |
G |
T |
10: 14,581,222 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,080 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
probably null |
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 |
|
IGL01601:Nat8l
|
APN |
5 |
34,155,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTCTCCAAAATGCGGCG -3'
(R):5'- AGATGCCGTCGTAGAAGATGC -3'
Sequencing Primer
(F):5'- AAAATGCGGCGCAGCTCCCTgcgc -3'
(R):5'- TCGTAGAAGATGCGGCGC -3'
|
| Posted On |
2017-02-27 |
Incidental Mutation