Incidental Mutation 'R2339:Aatf'
| ID |
246682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aatf
|
| Ensembl Gene |
ENSMUSG00000018697 |
| Gene Name |
apoptosis antagonizing transcription factor |
| Synonyms |
5830465M17Rik, Trb, 4933415H02Rik, Che-1 |
| MMRRC Submission |
040325-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2339 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
84313681-84404348 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84402323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 121
(D121G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018841]
|
| AlphaFold |
Q9JKX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018841
AA Change: D121G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000018841
Gene: ENSMUSG00000018697
AA Change: D121G
| 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: ENSMUST00000148434
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc168 |
G |
T |
1: 44,100,023 (GRCm39) |
D358E |
probably benign |
Het |
| Cilp2 |
A |
T |
8: 70,335,544 (GRCm39) |
S485T |
probably benign |
Het |
| Cux1 |
A |
C |
5: 136,315,862 (GRCm39) |
S1059R |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,314,028 (GRCm39) |
D1948G |
probably benign |
Het |
| Fyn |
A |
G |
10: 39,398,781 (GRCm39) |
T126A |
probably benign |
Het |
| Gm10134 |
C |
T |
2: 28,396,141 (GRCm39) |
S12F |
probably benign |
Het |
| Grm7 |
T |
C |
6: 111,472,642 (GRCm39) |
I827T |
possibly damaging |
Het |
| H1f4 |
T |
C |
13: 23,805,943 (GRCm39) |
|
probably benign |
Het |
| Hacd4 |
T |
A |
4: 88,341,336 (GRCm39) |
|
probably null |
Het |
| Helt |
T |
C |
8: 46,745,709 (GRCm39) |
N58S |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,248,543 (GRCm39) |
Y68H |
probably benign |
Het |
| Myof |
G |
T |
19: 37,926,375 (GRCm39) |
H1127N |
probably damaging |
Het |
| Nbas |
A |
T |
12: 13,412,593 (GRCm39) |
I971L |
probably benign |
Het |
| Or4k39 |
C |
T |
2: 111,239,534 (GRCm39) |
T258I |
probably benign |
Het |
| Pakap |
G |
A |
4: 57,883,180 (GRCm39) |
R882H |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,756,102 (GRCm39) |
|
probably benign |
Het |
| Pparg |
G |
T |
6: 115,428,005 (GRCm39) |
R164L |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,150,725 (GRCm39) |
N464Y |
possibly damaging |
Het |
| Ric8b |
T |
C |
10: 84,805,888 (GRCm39) |
V333A |
probably benign |
Het |
| Sall2 |
G |
A |
14: 52,550,813 (GRCm39) |
S792L |
probably damaging |
Het |
| Slc5a4b |
C |
A |
10: 75,944,383 (GRCm39) |
L87F |
probably damaging |
Het |
| Sox12 |
A |
G |
2: 152,238,958 (GRCm39) |
S221P |
possibly damaging |
Het |
| Tpr |
T |
A |
1: 150,289,525 (GRCm39) |
S619T |
probably benign |
Het |
| Trdmt1 |
G |
A |
2: 13,524,871 (GRCm39) |
Q195* |
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,750,640 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Upf2 |
A |
T |
2: 6,044,913 (GRCm39) |
|
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,710,389 (GRCm39) |
T704I |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGGTAACCTCGAGTGTTAGG -3'
(R):5'- CGTGCAGTTGAATAGAGCAC -3'
Sequencing Primer
(F):5'- ACCTCGAGTGTTAGGTTTCTG -3'
(R):5'- GTTCTGTCATATAAGCTCCCACAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation