Incidental Mutation 'R0257:Aatf'
ID 34795
Institutional Source Beutler Lab
Gene Symbol Aatf
Ensembl Gene ENSMUSG00000018697
Gene Name apoptosis antagonizing transcription factor
Synonyms Trb, 4933415H02Rik, 5830465M17Rik, Che-1
MMRRC Submission 038488-MU
Accession Numbers

NCBI RefSeq: NM_019816.1; MGI:1929608

Essential gene? Essential (E-score: 1.000) question?
Stock # R0257 (G1)
Quality Score 210
Status Validated
Chromosome 11
Chromosomal Location 84422855-84513522 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84510281 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 171 (E171D)
Ref Sequence ENSEMBL: ENSMUSP00000018841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018841]
AlphaFold Q9JKX4
Predicted Effect probably benign
Transcript: ENSMUST00000018841
AA Change: E171D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000018841
Gene: ENSMUSG00000018697
AA Change: E171D

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 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.2%
Validation Efficiency 99% (67/68)
MGI Phenotype Strain: 2176283
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik T A 17: 56,885,169 (GRCm38) Y577* probably null Het
Adgre5 T A 8: 83,731,995 (GRCm38) H134L possibly damaging Het
Ahsg A T 16: 22,899,040 (GRCm38) M256L probably benign Het
Alk A T 17: 72,603,495 (GRCm38) L72Q probably damaging Het
Ano2 C A 6: 125,880,713 (GRCm38) A505E probably benign Het
Bcas3 A G 11: 85,822,039 (GRCm38) K908E probably benign Het
C3ar1 A G 6: 122,850,787 (GRCm38) V157A probably benign Het
Car2 C G 3: 14,899,977 (GRCm38) H224D probably benign Het
Cfh T C 1: 140,144,035 (GRCm38) D287G probably benign Het
Disp3 G T 4: 148,250,754 (GRCm38) N944K possibly damaging Het
Dlg1 A G 16: 31,842,853 (GRCm38) probably benign Het
Dmbt1 A G 7: 131,106,393 (GRCm38) E1281G probably damaging Het
Dmxl1 T A 18: 49,955,803 (GRCm38) probably benign Het
Dtx3 T C 10: 127,192,892 (GRCm38) D159G probably benign Het
Ets2 T A 16: 95,712,201 (GRCm38) C140* probably null Het
Fbf1 T C 11: 116,155,091 (GRCm38) I226V probably benign Het
Fgd6 T A 10: 94,043,915 (GRCm38) H210Q probably benign Het
Fktn A G 4: 53,734,898 (GRCm38) T179A probably benign Het
Galnt10 T C 11: 57,781,078 (GRCm38) M398T probably damaging Het
Grk5 G T 19: 61,076,630 (GRCm38) probably benign Het
Gse1 A G 8: 120,572,334 (GRCm38) probably benign Het
Hmcn2 T C 2: 31,369,164 (GRCm38) probably benign Het
Iqgap2 A G 13: 95,724,544 (GRCm38) probably null Het
Lama4 T C 10: 39,094,884 (GRCm38) probably benign Het
Luzp2 A G 7: 55,249,446 (GRCm38) T271A probably benign Het
Mdn1 T A 4: 32,693,534 (GRCm38) V1053D probably damaging Het
Mrm1 A C 11: 84,814,823 (GRCm38) probably benign Het
Msh5 G C 17: 35,032,864 (GRCm38) R407G probably damaging Het
Myo1c A T 11: 75,665,516 (GRCm38) probably null Het
Nek5 T C 8: 22,123,672 (GRCm38) probably benign Het
Nrxn2 A G 19: 6,490,698 (GRCm38) I894V possibly damaging Het
Olfr372 C T 8: 72,058,400 (GRCm38) T240M probably damaging Het
Pde4a C T 9: 21,192,421 (GRCm38) P175L probably damaging Het
Pip5k1c C A 10: 81,315,096 (GRCm38) A628E possibly damaging Het
Piwil2 C T 14: 70,422,631 (GRCm38) S139N probably benign Het
Prob1 T C 18: 35,653,039 (GRCm38) K721E possibly damaging Het
Rps6ka2 C A 17: 7,227,983 (GRCm38) S57Y probably damaging Het
Rxfp1 C T 3: 79,682,535 (GRCm38) V100M possibly damaging Het
Serpinb9e A T 13: 33,257,681 (GRCm38) M199L probably benign Het
Slc17a3 C T 13: 23,855,858 (GRCm38) S293F probably damaging Het
Slc4a8 G A 15: 100,784,880 (GRCm38) probably benign Het
Sned1 A T 1: 93,265,097 (GRCm38) S369C possibly damaging Het
St18 T A 1: 6,819,962 (GRCm38) F539L probably benign Het
Stam2 C T 2: 52,694,782 (GRCm38) G500D possibly damaging Het
Stx16 G A 2: 174,096,961 (GRCm38) V307M probably benign Het
Svep1 G A 4: 58,179,610 (GRCm38) S211L possibly damaging Het
Tcf12 C T 9: 71,858,622 (GRCm38) S512N probably benign Het
Tiam2 T C 17: 3,450,813 (GRCm38) V909A possibly damaging Het
Tmem64 C T 4: 15,266,343 (GRCm38) A131V probably damaging Het
Tnrc6b C A 15: 80,894,355 (GRCm38) N1176K possibly damaging Het
Trrap C T 5: 144,804,235 (GRCm38) S1264L probably benign Het
Ttn T A 2: 76,810,431 (GRCm38) T13658S possibly damaging Het
Vmn2r104 G A 17: 20,029,627 (GRCm38) T794I probably damaging Het
Vmn2r52 T A 7: 10,171,055 (GRCm38) R286* probably null Het
Vps53 A T 11: 76,177,385 (GRCm38) probably benign Het
Wdr18 A G 10: 79,961,119 (GRCm38) probably benign Het
Wdr31 A G 4: 62,460,518 (GRCm38) probably null Het
Zfp458 T A 13: 67,259,642 (GRCm38) K47* probably null Het
Zfp983 A G 17: 21,661,440 (GRCm38) T95A probably benign Het
Other mutations in Aatf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Aatf APN 11 84,470,557 (GRCm38) splice site probably benign
IGL01482:Aatf APN 11 84,470,710 (GRCm38) missense possibly damaging 0.51
IGL01775:Aatf APN 11 84,471,137 (GRCm38) missense probably damaging 1.00
IGL02881:Aatf APN 11 84,471,289 (GRCm38) splice site probably benign
R0183:Aatf UTSW 11 84,510,425 (GRCm38) splice site probably null
R0200:Aatf UTSW 11 84,445,676 (GRCm38) missense probably damaging 1.00
R0324:Aatf UTSW 11 84,512,139 (GRCm38) critical splice donor site probably null
R0494:Aatf UTSW 11 84,511,513 (GRCm38) missense probably benign
R0544:Aatf UTSW 11 84,423,005 (GRCm38) missense probably benign 0.09
R1186:Aatf UTSW 11 84,470,549 (GRCm38) splice site probably benign
R2339:Aatf UTSW 11 84,511,497 (GRCm38) missense probably benign 0.00
R4626:Aatf UTSW 11 84,422,958 (GRCm38) makesense probably null
R4647:Aatf UTSW 11 84,471,197 (GRCm38) missense possibly damaging 0.69
R4697:Aatf UTSW 11 84,449,138 (GRCm38) missense probably damaging 1.00
R4981:Aatf UTSW 11 84,511,497 (GRCm38) missense probably benign 0.00
R5490:Aatf UTSW 11 84,510,273 (GRCm38) missense probably damaging 1.00
R5938:Aatf UTSW 11 84,442,574 (GRCm38) missense possibly damaging 0.88
R6267:Aatf UTSW 11 84,473,100 (GRCm38) missense probably benign 0.09
R6296:Aatf UTSW 11 84,473,100 (GRCm38) missense probably benign 0.09
R6633:Aatf UTSW 11 84,511,482 (GRCm38) critical splice donor site probably null
R7081:Aatf UTSW 11 84,471,125 (GRCm38) missense possibly damaging 0.84
R7212:Aatf UTSW 11 84,449,180 (GRCm38) missense probably damaging 0.98
R7545:Aatf UTSW 11 84,470,676 (GRCm38) missense probably benign 0.04
R7754:Aatf UTSW 11 84,511,509 (GRCm38) missense possibly damaging 0.53
R7871:Aatf UTSW 11 84,471,038 (GRCm38) frame shift probably null
R8411:Aatf UTSW 11 84,470,676 (GRCm38) missense probably benign 0.04
R8746:Aatf UTSW 11 84,511,512 (GRCm38) missense probably benign 0.06
R9406:Aatf UTSW 11 84,471,040 (GRCm38) frame shift probably null
X0018:Aatf UTSW 11 84,510,385 (GRCm38) missense possibly damaging 0.85
Z1176:Aatf UTSW 11 84,442,585 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-09