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 |
Incidental Mutation