Incidental Mutation 'IGL00900:Aatf'
| ID |
28482 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aatf
|
| Ensembl Gene |
ENSMUSG00000018697 |
| Gene Name |
apoptosis antagonizing transcription factor |
| Synonyms |
5830465M17Rik, Trb, 4933415H02Rik, Che-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00900
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
84313681-84404348 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 84361383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018841]
|
| AlphaFold |
Q9JKX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018841
|
| SMART Domains |
Protein: ENSMUSP00000018841
Gene: ENSMUSG00000018697
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
173 |
N/A |
INTRINSIC |
|
Pfam:AATF-Che1
|
187 |
339 |
4.6e-40 |
PFAM |
|
low complexity region
|
418 |
429 |
N/A |
INTRINSIC |
|
Pfam:TRAUB
|
430 |
514 |
3.2e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148434
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous embryos do not develop past the compacted morula stage, and after failing to maintain compaction. Mutant embryos show abnormal morphology at E3.5, with most not forming a blastocoel cavity. Severely reduced cell proliferation is observed before blastocyst formation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(20) : Targeted(2) Gene trapped(18)
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap3 |
G |
A |
5: 24,681,366 (GRCm39) |
|
probably benign |
Het |
| Angptl2 |
A |
T |
2: 33,133,784 (GRCm39) |
M369L |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,590,867 (GRCm39) |
D36G |
possibly damaging |
Het |
| Ccnt1 |
A |
G |
15: 98,452,514 (GRCm39) |
V134A |
probably damaging |
Het |
| Ces1e |
T |
C |
8: 93,944,245 (GRCm39) |
H191R |
probably damaging |
Het |
| Dhh |
A |
G |
15: 98,796,101 (GRCm39) |
|
probably benign |
Het |
| Edil3 |
C |
A |
13: 89,437,652 (GRCm39) |
H418N |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,402,743 (GRCm39) |
I296V |
probably benign |
Het |
| Focad |
T |
A |
4: 88,047,260 (GRCm39) |
N86K |
probably damaging |
Het |
| Foxn1 |
C |
T |
11: 78,262,109 (GRCm39) |
G87S |
probably benign |
Het |
| Glipr1l2 |
T |
C |
10: 111,933,887 (GRCm39) |
Y220H |
probably benign |
Het |
| Hnrnpa1 |
A |
G |
15: 103,152,166 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,983,952 (GRCm39) |
M797V |
possibly damaging |
Het |
| Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,350,308 (GRCm39) |
F118I |
probably benign |
Het |
| Mtap |
T |
A |
4: 89,090,594 (GRCm39) |
Y221* |
probably null |
Het |
| Myh2 |
T |
C |
11: 67,070,210 (GRCm39) |
V414A |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,102,848 (GRCm39) |
Y1999N |
probably damaging |
Het |
| Or5d39 |
A |
G |
2: 87,979,604 (GRCm39) |
F253S |
possibly damaging |
Het |
| Oxsm |
A |
G |
14: 16,242,023 (GRCm38) |
S249P |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,401,507 (GRCm39) |
I46F |
possibly damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,589,975 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,239,499 (GRCm39) |
S4P |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,185,115 (GRCm39) |
V1534A |
probably damaging |
Het |
| Rnf138 |
T |
A |
18: 21,154,017 (GRCm39) |
D174E |
possibly damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,302,594 (GRCm39) |
N162Y |
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,914,006 (GRCm39) |
T519S |
probably benign |
Het |
| Slfn9 |
A |
T |
11: 82,872,197 (GRCm39) |
C846* |
probably null |
Het |
| Trip12 |
A |
G |
1: 84,702,485 (GRCm39) |
S1945P |
possibly damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,394 (GRCm39) |
F69L |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,887,287 (GRCm39) |
D545G |
probably damaging |
Het |
|
| Other mutations in Aatf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01482:Aatf
|
APN |
11 |
84,361,536 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01775:Aatf
|
APN |
11 |
84,361,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02881:Aatf
|
APN |
11 |
84,362,115 (GRCm39) |
splice site |
probably benign |
|
|
R0183:Aatf
|
UTSW |
11 |
84,401,251 (GRCm39) |
splice site |
probably null |
|
|
R0200:Aatf
|
UTSW |
11 |
84,336,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Aatf
|
UTSW |
11 |
84,401,107 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0324:Aatf
|
UTSW |
11 |
84,402,965 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0494:Aatf
|
UTSW |
11 |
84,402,339 (GRCm39) |
missense |
probably benign |
|
|
R0544:Aatf
|
UTSW |
11 |
84,313,831 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1186:Aatf
|
UTSW |
11 |
84,361,375 (GRCm39) |
splice site |
probably benign |
|
|
R2339:Aatf
|
UTSW |
11 |
84,402,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4626:Aatf
|
UTSW |
11 |
84,313,784 (GRCm39) |
makesense |
probably null |
|
|
R4647:Aatf
|
UTSW |
11 |
84,362,023 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4697:Aatf
|
UTSW |
11 |
84,339,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Aatf
|
UTSW |
11 |
84,402,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5490:Aatf
|
UTSW |
11 |
84,401,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5938:Aatf
|
UTSW |
11 |
84,333,400 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6267:Aatf
|
UTSW |
11 |
84,363,926 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6296:Aatf
|
UTSW |
11 |
84,363,926 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6633:Aatf
|
UTSW |
11 |
84,402,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7081:Aatf
|
UTSW |
11 |
84,361,951 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7212:Aatf
|
UTSW |
11 |
84,340,006 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7545:Aatf
|
UTSW |
11 |
84,361,502 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7754:Aatf
|
UTSW |
11 |
84,402,335 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7871:Aatf
|
UTSW |
11 |
84,361,864 (GRCm39) |
frame shift |
probably null |
|
|
R8411:Aatf
|
UTSW |
11 |
84,361,502 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8746:Aatf
|
UTSW |
11 |
84,402,338 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9406:Aatf
|
UTSW |
11 |
84,361,866 (GRCm39) |
frame shift |
probably null |
|
|
X0018:Aatf
|
UTSW |
11 |
84,401,211 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Aatf
|
UTSW |
11 |
84,333,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-04-17 |
Incidental Mutation