Incidental Mutation 'IGL02881:Aatf'
| ID |
362822 |
| 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 # |
IGL02881
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
84313681-84404348 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 84362115 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
C |
A |
8: 13,605,999 (GRCm39) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 135,966,548 (GRCm39) |
H542L |
probably benign |
Het |
| Cyp4v3 |
A |
T |
8: 45,761,753 (GRCm39) |
L389H |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,932,944 (GRCm39) |
E3605K |
probably damaging |
Het |
| Fry |
C |
T |
5: 150,282,516 (GRCm39) |
T347M |
probably damaging |
Het |
| Glul |
C |
A |
1: 153,782,862 (GRCm39) |
T191K |
probably benign |
Het |
| Grsf1 |
A |
T |
5: 88,821,689 (GRCm39) |
L125Q |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,022,118 (GRCm39) |
I976T |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,740,275 (GRCm39) |
T462A |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,410,233 (GRCm39) |
R60S |
possibly damaging |
Het |
| Mrpl10 |
T |
A |
11: 96,937,899 (GRCm39) |
V89D |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,411,449 (GRCm39) |
T1465I |
unknown |
Het |
| Myh15 |
A |
C |
16: 48,937,628 (GRCm39) |
D743A |
possibly damaging |
Het |
| Noxo1 |
C |
A |
17: 24,918,409 (GRCm39) |
L190I |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,918,410 (GRCm39) |
L190Q |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or2aj5 |
A |
T |
16: 19,425,050 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or4c121 |
T |
A |
2: 89,023,985 (GRCm39) |
Y131F |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,460 (GRCm39) |
S64G |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,057 (GRCm39) |
V273A |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,836,364 (GRCm39) |
T131A |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,466,829 (GRCm39) |
|
probably null |
Het |
| Pnliprp2 |
A |
G |
19: 58,759,878 (GRCm39) |
D363G |
probably benign |
Het |
| Prpf6 |
C |
T |
2: 181,273,864 (GRCm39) |
T336I |
probably benign |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Sae1 |
T |
G |
7: 16,093,043 (GRCm39) |
K221N |
probably damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,722,987 (GRCm39) |
K299R |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,917,969 (GRCm39) |
R636G |
probably benign |
Het |
| Smad2 |
C |
A |
18: 76,432,851 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
T |
C |
15: 94,777,306 (GRCm39) |
F152S |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,757,365 (GRCm39) |
C276Y |
probably damaging |
Het |
| Tor1b |
A |
T |
2: 30,843,865 (GRCm39) |
K47* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,740,147 (GRCm39) |
V3464A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,550,945 (GRCm39) |
T870A |
possibly damaging |
Het |
| Zscan25 |
T |
G |
5: 145,227,296 (GRCm39) |
L320R |
probably benign |
Het |
|
| Other mutations in Aatf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Aatf
|
APN |
11 |
84,361,383 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation