Incidental Mutation 'R5490:Aatf'
| ID |
432050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aatf
|
| Ensembl Gene |
ENSMUSG00000018697 |
| Gene Name |
apoptosis antagonizing transcription factor |
| Synonyms |
5830465M17Rik, Trb, 4933415H02Rik, Che-1 |
| MMRRC Submission |
043051-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5490 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
84313681-84404348 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84401099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 174
(G174D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018841]
|
| AlphaFold |
Q9JKX4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018841
AA Change: G174D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018841
Gene: ENSMUSG00000018697
AA Change: G174D
| 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
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
T |
16: 14,228,781 (GRCm39) |
G343C |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,780,646 (GRCm39) |
N370S |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,060,395 (GRCm39) |
E451G |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,994,733 (GRCm39) |
H658R |
possibly damaging |
Het |
| Cdca2 |
T |
C |
14: 67,917,733 (GRCm39) |
E555G |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,300,995 (GRCm39) |
S299G |
possibly damaging |
Het |
| Eea1 |
A |
G |
10: 95,861,916 (GRCm39) |
E741G |
probably benign |
Het |
| Gapvd1 |
T |
C |
2: 34,583,445 (GRCm39) |
D1057G |
probably benign |
Het |
| Glyat |
C |
T |
19: 12,627,645 (GRCm39) |
T80M |
probably benign |
Het |
| Gpr87 |
T |
C |
3: 59,086,747 (GRCm39) |
S253G |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,673,721 (GRCm39) |
V216E |
probably damaging |
Het |
| Hmgxb3 |
A |
G |
18: 61,296,049 (GRCm39) |
S320P |
probably damaging |
Het |
| Kcnq5 |
C |
T |
1: 21,549,692 (GRCm39) |
G345D |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,648,870 (GRCm39) |
V938A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Madd |
G |
T |
2: 91,000,980 (GRCm39) |
T467K |
possibly damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,455,890 (GRCm39) |
D706G |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,452,292 (GRCm39) |
H476R |
probably damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,666 (GRCm39) |
D146G |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,439,057 (GRCm39) |
S172P |
probably damaging |
Het |
| Nkx2-3 |
A |
T |
19: 43,601,093 (GRCm39) |
T52S |
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,062,970 (GRCm39) |
V230I |
probably damaging |
Het |
| Or1j19 |
T |
A |
2: 36,677,193 (GRCm39) |
Y219N |
probably damaging |
Het |
| Or51f2 |
T |
C |
7: 102,527,100 (GRCm39) |
S258P |
probably damaging |
Het |
| Or5g9 |
G |
T |
2: 85,552,666 (GRCm39) |
A306S |
probably benign |
Het |
| Pepd |
A |
G |
7: 34,642,115 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
T |
A |
12: 76,484,760 (GRCm39) |
W238R |
probably damaging |
Het |
| Ppp1r36 |
G |
T |
12: 76,484,761 (GRCm39) |
W238L |
possibly damaging |
Het |
| Prpf6 |
T |
G |
2: 181,249,958 (GRCm39) |
D39E |
probably benign |
Het |
| Rassf5 |
T |
A |
1: 131,108,932 (GRCm39) |
Q163L |
possibly damaging |
Het |
| Rbm43 |
T |
A |
2: 51,815,607 (GRCm39) |
T205S |
probably benign |
Het |
| Relch |
T |
A |
1: 105,647,226 (GRCm39) |
V672D |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sds |
C |
A |
5: 120,621,715 (GRCm39) |
Q286K |
possibly damaging |
Het |
| Slc35a3 |
A |
T |
3: 116,474,839 (GRCm39) |
C184* |
probably null |
Het |
| Smg1 |
G |
A |
7: 117,738,659 (GRCm39) |
T3530I |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,470,214 (GRCm39) |
V591A |
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,610,929 (GRCm39) |
D31G |
probably damaging |
Het |
| Star |
A |
G |
8: 26,299,945 (GRCm39) |
K96E |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,921,931 (GRCm39) |
L495P |
probably damaging |
Het |
| Tceanc2 |
A |
T |
4: 107,022,846 (GRCm39) |
M47K |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,881,118 (GRCm39) |
L85P |
probably damaging |
Het |
| Tmem241 |
C |
T |
18: 12,176,320 (GRCm39) |
R116K |
probably benign |
Het |
| Yipf2 |
G |
A |
9: 21,503,487 (GRCm39) |
A20V |
probably benign |
Het |
| Zc3h4 |
T |
A |
7: 16,162,930 (GRCm39) |
D443E |
unknown |
Het |
| Zfp184 |
T |
A |
13: 22,142,747 (GRCm39) |
V151D |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,695 (GRCm39) |
Y517C |
probably damaging |
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 |
|
|
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 |
|
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'- ATCGAGGCAGGTCAAACTG -3'
(R):5'- CTGGAATGAAAGATGTGGCCTG -3'
Sequencing Primer
(F):5'- TCAAACTGGAAGGACACTGG -3'
(R):5'- CCTGGAAGAGTTCTCAGA -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation