Incidental Mutation 'IGL03373:Nat8f5'
ID |
420393 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nat8f5
|
Ensembl Gene |
ENSMUSG00000079494 |
Gene Name |
N-acetyltransferase 8 (GCN5-related) family member 5 |
Synonyms |
1810018F03Rik, Cml5 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03373
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
85794200-85797954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 85794529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 144
(S144A)
|
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: S144A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000032074 Gene: ENSMUSG00000079494 AA Change: S144A
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6a |
A |
T |
12: 113,509,172 (GRCm39) |
Y515F |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,711,751 (GRCm39) |
V1075A |
probably damaging |
Het |
Alox8 |
T |
C |
11: 69,077,443 (GRCm39) |
T436A |
probably benign |
Het |
Cdc7 |
T |
A |
5: 107,120,785 (GRCm39) |
|
probably benign |
Het |
Cdhr1 |
T |
A |
14: 36,818,257 (GRCm39) |
D65V |
possibly damaging |
Het |
Dnase1 |
A |
G |
16: 3,857,707 (GRCm39) |
E278G |
probably damaging |
Het |
Eif3g |
A |
T |
9: 20,805,722 (GRCm39) |
|
probably benign |
Het |
Flnb |
G |
A |
14: 7,890,867 (GRCm38) |
|
probably null |
Het |
Hars2 |
G |
T |
18: 36,918,998 (GRCm39) |
R86L |
probably damaging |
Het |
Lmod1 |
C |
T |
1: 135,292,264 (GRCm39) |
A373V |
possibly damaging |
Het |
Mdga2 |
A |
G |
12: 66,763,496 (GRCm39) |
I200T |
probably damaging |
Het |
Mup1 |
T |
G |
4: 60,457,849 (GRCm39) |
|
probably benign |
Het |
Ndnf |
A |
C |
6: 65,681,272 (GRCm39) |
Y517S |
possibly damaging |
Het |
Nedd4l |
G |
A |
18: 65,314,391 (GRCm39) |
|
probably benign |
Het |
Nlrp4g |
A |
T |
9: 124,349,853 (GRCm38) |
|
noncoding transcript |
Het |
Nob1 |
C |
T |
8: 108,144,678 (GRCm39) |
|
probably benign |
Het |
Nploc4 |
G |
A |
11: 120,300,455 (GRCm39) |
R326* |
probably null |
Het |
Obox3 |
A |
T |
7: 15,359,715 (GRCm39) |
V318D |
probably benign |
Het |
Or10a3m |
G |
A |
7: 108,313,339 (GRCm39) |
V248I |
probably damaging |
Het |
Or10ag57 |
T |
C |
2: 87,218,577 (GRCm39) |
F176S |
probably damaging |
Het |
Pgm1 |
T |
C |
4: 99,818,741 (GRCm39) |
I130T |
probably damaging |
Het |
Ptprk |
A |
T |
10: 28,442,533 (GRCm39) |
D845V |
probably damaging |
Het |
Ptx4 |
T |
A |
17: 25,339,873 (GRCm39) |
S17T |
probably benign |
Het |
Rasgrf1 |
T |
C |
9: 89,899,084 (GRCm39) |
|
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,596,096 (GRCm39) |
T426A |
probably damaging |
Het |
Sfpq |
C |
A |
4: 126,920,578 (GRCm39) |
R564S |
possibly damaging |
Het |
Spint2 |
A |
G |
7: 28,957,634 (GRCm39) |
|
probably benign |
Het |
Vmn1r27 |
A |
G |
6: 58,192,689 (GRCm39) |
I105T |
probably damaging |
Het |
Vmn1r78 |
T |
C |
7: 11,887,270 (GRCm39) |
S294P |
possibly damaging |
Het |
Vmn2r40 |
T |
C |
7: 8,923,092 (GRCm39) |
D423G |
probably benign |
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 |
E7848:Nat8f5
|
UTSW |
6 |
85,794,601 (GRCm39) |
missense |
probably damaging |
0.99 |
R0034:Nat8f5
|
UTSW |
6 |
85,794,868 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
2016-08-02 |