Incidental Mutation 'R0034:Nat8f5'
ID |
15343 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nat8f5
|
Ensembl Gene |
ENSMUSG00000079494 |
Gene Name |
N-acetyltransferase 8 (GCN5-related) family member 5 |
Synonyms |
1810018F03Rik, Cml5 |
MMRRC Submission |
038328-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0034 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
85794200-85797954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 85794868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 31
(A31S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032074
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032074]
[ENSMUST00000174143]
|
AlphaFold |
Q9QXS8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032074
AA Change: A31S
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000032074 Gene: ENSMUSG00000079494 AA Change: A31S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
Pfam:Acetyltransf_10
|
73 |
192 |
2.7e-12 |
PFAM |
Pfam:Acetyltransf_9
|
79 |
195 |
9.1e-10 |
PFAM |
Pfam:Acetyltransf_8
|
84 |
201 |
9.2e-10 |
PFAM |
Pfam:Acetyltransf_4
|
84 |
205 |
9.2e-9 |
PFAM |
Pfam:Acetyltransf_7
|
104 |
194 |
3.1e-11 |
PFAM |
Pfam:Acetyltransf_1
|
111 |
193 |
1.6e-15 |
PFAM |
Pfam:Acetyltransf_CG
|
121 |
184 |
1.6e-11 |
PFAM |
Pfam:FR47
|
131 |
201 |
4.3e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174143
|
SMART Domains |
Protein: ENSMUSP00000133846 Gene: ENSMUSG00000079495
Domain | Start | End | E-Value | Type |
transmembrane domain
|
37 |
56 |
N/A |
INTRINSIC |
Pfam:Acetyltransf_10
|
71 |
193 |
5.5e-11 |
PFAM |
Pfam:Acetyltransf_4
|
75 |
202 |
1.1e-9 |
PFAM |
Pfam:Acetyltransf_7
|
105 |
195 |
1.2e-10 |
PFAM |
Pfam:Acetyltransf_1
|
112 |
194 |
2.6e-14 |
PFAM |
|
Meta Mutation Damage Score |
0.0908 |
Coding Region Coverage |
- 1x: 76.6%
- 3x: 64.3%
- 10x: 35.1%
- 20x: 16.8%
|
Validation Efficiency |
87% (59/68) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies, omphalocele and gastroschisis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asns |
G |
A |
6: 7,676,299 (GRCm39) |
P419L |
probably damaging |
Het |
Cep152 |
C |
T |
2: 125,425,813 (GRCm39) |
A851T |
probably benign |
Het |
Chrna7 |
T |
G |
7: 62,798,354 (GRCm39) |
K109N |
possibly damaging |
Het |
Dnaaf9 |
T |
C |
2: 130,578,492 (GRCm39) |
H664R |
probably damaging |
Het |
Farp1 |
A |
G |
14: 121,492,841 (GRCm39) |
H481R |
probably benign |
Het |
Kif9 |
G |
A |
9: 110,348,679 (GRCm39) |
C738Y |
probably benign |
Het |
Klf12 |
A |
G |
14: 100,224,865 (GRCm39) |
|
probably null |
Het |
Ltbp1 |
T |
A |
17: 75,354,563 (GRCm39) |
|
probably benign |
Het |
Map2k4 |
A |
G |
11: 65,610,437 (GRCm39) |
|
probably benign |
Het |
Plb1 |
G |
T |
5: 32,430,457 (GRCm39) |
G138V |
probably benign |
Het |
Plcz1 |
A |
T |
6: 139,966,174 (GRCm39) |
|
probably benign |
Het |
Poln |
A |
C |
5: 34,272,762 (GRCm39) |
V398G |
possibly damaging |
Het |
Ppp2r2c |
A |
G |
5: 37,084,883 (GRCm39) |
I115V |
probably benign |
Het |
Rapgef1 |
C |
A |
2: 29,614,780 (GRCm39) |
|
probably benign |
Het |
Rbm43 |
A |
T |
2: 51,815,722 (GRCm39) |
D166E |
probably benign |
Het |
Sgk3 |
T |
C |
1: 9,955,902 (GRCm39) |
V301A |
probably damaging |
Het |
Trap1 |
A |
T |
16: 3,886,894 (GRCm39) |
|
probably benign |
Het |
Trim14 |
A |
G |
4: 46,523,627 (GRCm39) |
L137P |
probably damaging |
Het |
Tsku |
T |
C |
7: 98,001,870 (GRCm39) |
T154A |
possibly damaging |
Het |
Usp50 |
T |
C |
2: 126,619,895 (GRCm39) |
E139G |
possibly damaging |
Het |
Zfp949 |
A |
T |
9: 88,449,693 (GRCm39) |
|
probably benign |
Het |
Zscan20 |
T |
C |
4: 128,479,455 (GRCm39) |
N1012S |
probably damaging |
Het |
|
Other mutations in Nat8f5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00824:Nat8f5
|
APN |
6 |
85,794,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01348:Nat8f5
|
APN |
6 |
85,794,862 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01672:Nat8f5
|
APN |
6 |
85,794,934 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01769:Nat8f5
|
APN |
6 |
85,794,859 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02009:Nat8f5
|
APN |
6 |
85,794,408 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02493:Nat8f5
|
APN |
6 |
85,794,544 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03346:Nat8f5
|
APN |
6 |
85,794,640 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03373:Nat8f5
|
APN |
6 |
85,794,529 (GRCm39) |
missense |
probably benign |
0.02 |
E7848:Nat8f5
|
UTSW |
6 |
85,794,601 (GRCm39) |
missense |
probably damaging |
0.99 |
R0670:Nat8f5
|
UTSW |
6 |
85,794,957 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R1939:Nat8f5
|
UTSW |
6 |
85,794,801 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4514:Nat8f5
|
UTSW |
6 |
85,794,405 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5502:Nat8f5
|
UTSW |
6 |
85,794,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R5770:Nat8f5
|
UTSW |
6 |
85,794,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R8038:Nat8f5
|
UTSW |
6 |
85,794,667 (GRCm39) |
missense |
possibly damaging |
0.69 |
Z1176:Nat8f5
|
UTSW |
6 |
85,794,667 (GRCm39) |
missense |
probably benign |
0.43 |
|
Posted On |
2012-12-17 |