Incidental Mutation 'IGL01990:Atf5'
ID |
182038 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atf5
|
Ensembl Gene |
ENSMUSG00000038539 |
Gene Name |
activating transcription factor 5 |
Synonyms |
Atf7, ODA-10, Atfx, AFTA |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.560)
|
Stock # |
IGL01990
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
44461680-44466082 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 44462473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 217
(D217A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047356]
[ENSMUST00000057195]
[ENSMUST00000107893]
[ENSMUST00000118125]
[ENSMUST00000207103]
[ENSMUST00000208626]
[ENSMUST00000209072]
[ENSMUST00000208172]
|
AlphaFold |
O70191 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047356
AA Change: D217A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047771 Gene: ENSMUSG00000038539 AA Change: D217A
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
37 |
N/A |
INTRINSIC |
low complexity region
|
43 |
60 |
N/A |
INTRINSIC |
low complexity region
|
75 |
98 |
N/A |
INTRINSIC |
SCOP:d1dnpa2
|
116 |
158 |
9e-3 |
SMART |
low complexity region
|
177 |
206 |
N/A |
INTRINSIC |
BRLZ
|
207 |
271 |
4.93e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057195
|
SMART Domains |
Protein: ENSMUSP00000056785 Gene: ENSMUSG00000109511
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
81 |
N/A |
INTRINSIC |
low complexity region
|
102 |
112 |
N/A |
INTRINSIC |
low complexity region
|
143 |
166 |
N/A |
INTRINSIC |
low complexity region
|
199 |
251 |
N/A |
INTRINSIC |
low complexity region
|
262 |
296 |
N/A |
INTRINSIC |
Pfam:Nsp1_C
|
317 |
433 |
2.3e-43 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107893
AA Change: D217A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103525 Gene: ENSMUSG00000038539 AA Change: D217A
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
37 |
N/A |
INTRINSIC |
low complexity region
|
43 |
60 |
N/A |
INTRINSIC |
low complexity region
|
75 |
98 |
N/A |
INTRINSIC |
SCOP:d1dnpa2
|
116 |
158 |
9e-3 |
SMART |
low complexity region
|
177 |
206 |
N/A |
INTRINSIC |
BRLZ
|
207 |
271 |
4.93e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118125
|
SMART Domains |
Protein: ENSMUSP00000113726 Gene: ENSMUSG00000074141
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Pfam:AlaDh_PNT_C
|
47 |
111 |
6.6e-9 |
PFAM |
Pfam:Pyr_redox_2
|
47 |
111 |
2e-9 |
PFAM |
Pfam:HI0933_like
|
67 |
169 |
1.8e-8 |
PFAM |
Pfam:FAD_binding_2
|
68 |
108 |
5e-8 |
PFAM |
Pfam:Pyr_redox
|
68 |
109 |
8.5e-8 |
PFAM |
Pfam:DAO
|
68 |
159 |
5.6e-8 |
PFAM |
Pfam:NAD_binding_8
|
71 |
138 |
1.2e-15 |
PFAM |
Pfam:Amino_oxidase
|
76 |
511 |
5.9e-84 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149779
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207103
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208626
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209072
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208172
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, absence of gastric milk in some mice, decreased body weight in mice that survive and loss of mature olfactory sensory neurons with increased apoptosis in olfactory epithelium. [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 |
Actl9 |
A |
G |
17: 33,653,068 (GRCm39) |
N376S |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,705,115 (GRCm39) |
D1565G |
probably damaging |
Het |
Azgp1 |
T |
C |
5: 137,987,997 (GRCm39) |
W260R |
probably damaging |
Het |
Cnr2 |
C |
T |
4: 135,644,116 (GRCm39) |
R65C |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,226,859 (GRCm39) |
Y203C |
unknown |
Het |
Colec11 |
A |
G |
12: 28,644,985 (GRCm39) |
Y170H |
probably benign |
Het |
Exosc10 |
A |
G |
4: 148,650,867 (GRCm39) |
Q471R |
possibly damaging |
Het |
Gal3st1 |
G |
T |
11: 3,948,741 (GRCm39) |
W316L |
probably damaging |
Het |
Igfbp3 |
C |
A |
11: 7,158,504 (GRCm39) |
R253L |
probably damaging |
Het |
Kcnb2 |
A |
T |
1: 15,383,178 (GRCm39) |
D168V |
probably benign |
Het |
Khnyn |
T |
G |
14: 56,125,045 (GRCm39) |
I433S |
possibly damaging |
Het |
Naaa |
T |
A |
5: 92,415,922 (GRCm39) |
T193S |
possibly damaging |
Het |
Nsun7 |
G |
A |
5: 66,418,416 (GRCm39) |
D49N |
probably damaging |
Het |
Pappa |
T |
C |
4: 65,074,924 (GRCm39) |
|
probably benign |
Het |
Pfkfb2 |
A |
G |
1: 130,633,107 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
C |
T |
8: 110,387,438 (GRCm39) |
T1794I |
probably damaging |
Het |
Prex2 |
A |
C |
1: 11,193,457 (GRCm39) |
|
probably benign |
Het |
Slc2a7 |
T |
G |
4: 150,239,141 (GRCm39) |
I122S |
possibly damaging |
Het |
Slc31a2 |
A |
G |
4: 62,214,207 (GRCm39) |
K53E |
probably benign |
Het |
Slc35f4 |
C |
T |
14: 49,541,626 (GRCm39) |
|
probably null |
Het |
Slc38a7 |
C |
T |
8: 96,571,590 (GRCm39) |
W213* |
probably null |
Het |
Slc5a4b |
T |
C |
10: 75,896,188 (GRCm39) |
E589G |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,101,707 (GRCm39) |
N5407S |
probably damaging |
Het |
Tgm2 |
A |
T |
2: 157,966,051 (GRCm39) |
D534E |
probably benign |
Het |
Ugt1a7c |
A |
G |
1: 88,023,324 (GRCm39) |
Y161C |
probably damaging |
Het |
Vmn2r114 |
A |
G |
17: 23,529,355 (GRCm39) |
M249T |
probably benign |
Het |
Xkr9 |
A |
G |
1: 13,771,203 (GRCm39) |
I240V |
probably benign |
Het |
Zfat |
A |
G |
15: 68,096,666 (GRCm39) |
L49P |
probably damaging |
Het |
Zfhx2 |
G |
T |
14: 55,311,047 (GRCm39) |
P549H |
probably damaging |
Het |
Zfp551 |
C |
T |
7: 12,156,343 (GRCm39) |
V25M |
possibly damaging |
Het |
|
Other mutations in Atf5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01534:Atf5
|
APN |
7 |
44,462,462 (GRCm39) |
missense |
probably damaging |
0.97 |
R0418:Atf5
|
UTSW |
7 |
44,462,821 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1709:Atf5
|
UTSW |
7 |
44,462,707 (GRCm39) |
missense |
probably benign |
0.41 |
R4041:Atf5
|
UTSW |
7 |
44,462,921 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5260:Atf5
|
UTSW |
7 |
44,464,510 (GRCm39) |
nonsense |
probably null |
|
R6790:Atf5
|
UTSW |
7 |
44,462,679 (GRCm39) |
splice site |
probably null |
|
R7406:Atf5
|
UTSW |
7 |
44,462,380 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7421:Atf5
|
UTSW |
7 |
44,464,562 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2014-05-07 |