Incidental Mutation 'IGL01912:Nat3'
| ID |
179842 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nat3
|
| Ensembl Gene |
ENSMUSG00000056426 |
| Gene Name |
N-acetyltransferase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01912
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
67976506-68001279 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 68000398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 92
(C92*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070514]
|
| AlphaFold |
P50296 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070514
AA Change: C92*
|
| SMART Domains |
Protein: ENSMUSP00000069359
Gene: ENSMUSG00000056426
AA Change: C92*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_2
|
20 |
280 |
3.6e-91 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile with no gross abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
T |
7: 45,769,934 (GRCm39) |
D860E |
probably damaging |
Het |
| Actl11 |
C |
A |
9: 107,806,844 (GRCm39) |
P389Q |
probably damaging |
Het |
| Bsg |
G |
T |
10: 79,545,974 (GRCm39) |
G103W |
probably null |
Het |
| Camk2d |
T |
A |
3: 126,604,281 (GRCm39) |
|
probably null |
Het |
| Clcn7 |
T |
C |
17: 25,371,983 (GRCm39) |
|
probably benign |
Het |
| Dctd |
C |
T |
8: 48,564,697 (GRCm39) |
|
probably benign |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Esyt2 |
T |
C |
12: 116,303,229 (GRCm39) |
I289T |
probably damaging |
Het |
| Exoc6b |
A |
C |
6: 84,602,156 (GRCm39) |
C753G |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm3633 |
T |
C |
14: 42,462,743 (GRCm39) |
|
probably benign |
Het |
| Hrh3 |
A |
T |
2: 179,743,169 (GRCm39) |
V153D |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,772,286 (GRCm39) |
|
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,382,573 (GRCm39) |
L525M |
probably benign |
Het |
| Nrp2 |
T |
A |
1: 62,810,896 (GRCm39) |
C646S |
probably damaging |
Het |
| Or10a3m |
T |
C |
7: 108,313,465 (GRCm39) |
Y290H |
possibly damaging |
Het |
| Or2ag16 |
T |
A |
7: 106,352,199 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or52n20 |
T |
C |
7: 104,320,440 (GRCm39) |
I177T |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,447,941 (GRCm39) |
Y63H |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,400,466 (GRCm39) |
V1059A |
probably benign |
Het |
| Ptprm |
A |
G |
17: 67,353,113 (GRCm39) |
V235A |
probably benign |
Het |
| Rab3ip |
G |
T |
10: 116,742,997 (GRCm39) |
Q443K |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,926,977 (GRCm39) |
D850Y |
probably damaging |
Het |
| Ubxn2b |
T |
A |
4: 6,203,767 (GRCm39) |
|
probably null |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,467 (GRCm39) |
Y161F |
probably benign |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,442 (GRCm39) |
S119P |
probably damaging |
Het |
|
| Other mutations in Nat3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03277:Nat3
|
APN |
8 |
68,000,341 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02802:Nat3
|
UTSW |
8 |
68,000,160 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0266:Nat3
|
UTSW |
8 |
68,000,432 (GRCm39) |
missense |
probably benign |
|
|
R0842:Nat3
|
UTSW |
8 |
68,000,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5245:Nat3
|
UTSW |
8 |
68,000,832 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5461:Nat3
|
UTSW |
8 |
68,000,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5892:Nat3
|
UTSW |
8 |
68,000,590 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6371:Nat3
|
UTSW |
8 |
67,976,831 (GRCm39) |
splice site |
probably null |
|
|
R7523:Nat3
|
UTSW |
8 |
68,000,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7587:Nat3
|
UTSW |
8 |
68,000,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7677:Nat3
|
UTSW |
8 |
68,000,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Nat3
|
UTSW |
8 |
68,000,478 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8757:Nat3
|
UTSW |
8 |
68,000,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9322:Nat3
|
UTSW |
8 |
68,000,162 (GRCm39) |
nonsense |
probably null |
|
|
X0067:Nat3
|
UTSW |
8 |
68,000,986 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Nat3
|
UTSW |
8 |
68,000,466 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2014-05-07 |
Incidental Mutation