Incidental Mutation 'R0257:Aatf'
ID 34795
Institutional Source Beutler Lab
Gene Symbol Aatf
Ensembl Gene ENSMUSG00000018697
Gene Name apoptosis antagonizing transcription factor
Synonyms 5830465M17Rik, Trb, 4933415H02Rik, Che-1
MMRRC Submission 038488-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0257 (G1)
Quality Score 210
Status Validated
Chromosome 11
Chromosomal Location 84313681-84404348 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84401107 bp (GRCm39)
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

DomainStartEndE-ValueType
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 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
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adgre5 T A 8: 84,458,624 (GRCm39) H134L possibly damaging Het
Ahsg A T 16: 22,717,790 (GRCm39) M256L probably benign Het
Alk A T 17: 72,910,490 (GRCm39) L72Q probably damaging Het
Ano2 C A 6: 125,857,676 (GRCm39) A505E probably benign Het
Bcas3 A G 11: 85,712,865 (GRCm39) K908E probably benign Het
C3ar1 A G 6: 122,827,746 (GRCm39) V157A probably benign Het
Car2 C G 3: 14,965,037 (GRCm39) H224D probably benign Het
Cfh T C 1: 140,071,773 (GRCm39) D287G probably benign Het
Disp3 G T 4: 148,335,211 (GRCm39) N944K possibly damaging Het
Dlg1 A G 16: 31,661,671 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,708,123 (GRCm39) E1281G probably damaging Het
Dmxl1 T A 18: 50,088,870 (GRCm39) probably benign Het
Dtx3 T C 10: 127,028,761 (GRCm39) D159G probably benign Het
Ets2 T A 16: 95,513,245 (GRCm39) C140* probably null Het
Fbf1 T C 11: 116,045,917 (GRCm39) I226V probably benign Het
Fgd6 T A 10: 93,879,777 (GRCm39) H210Q probably benign Het
Fktn A G 4: 53,734,898 (GRCm39) T179A probably benign Het
Galnt10 T C 11: 57,671,904 (GRCm39) M398T probably damaging Het
Grk5 G T 19: 61,065,068 (GRCm39) probably benign Het
Gse1 A G 8: 121,299,073 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,259,176 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,861,052 (GRCm39) probably null Het
Lama4 T C 10: 38,970,880 (GRCm39) probably benign Het
Luzp2 A G 7: 54,899,194 (GRCm39) T271A probably benign Het
Mdn1 T A 4: 32,693,534 (GRCm39) V1053D probably damaging Het
Mrm1 A C 11: 84,705,649 (GRCm39) probably benign Het
Msh5 G C 17: 35,251,840 (GRCm39) R407G probably damaging Het
Myo1c A T 11: 75,556,342 (GRCm39) probably null Het
Nek5 T C 8: 22,613,688 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,540,728 (GRCm39) I894V possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Pde4a C T 9: 21,103,717 (GRCm39) P175L probably damaging Het
Pip5k1c C A 10: 81,150,930 (GRCm39) A628E possibly damaging Het
Piwil2 C T 14: 70,660,080 (GRCm39) S139N probably benign Het
Prob1 T C 18: 35,786,092 (GRCm39) K721E possibly damaging Het
Rps6ka2 C A 17: 7,495,382 (GRCm39) S57Y probably damaging Het
Rxfp1 C T 3: 79,589,842 (GRCm39) V100M possibly damaging Het
Serpinb9e A T 13: 33,441,664 (GRCm39) M199L probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc4a8 G A 15: 100,682,761 (GRCm39) probably benign Het
Sned1 A T 1: 93,192,819 (GRCm39) S369C possibly damaging Het
St18 T A 1: 6,890,186 (GRCm39) F539L probably benign Het
Stam2 C T 2: 52,584,794 (GRCm39) G500D possibly damaging Het
Stx16 G A 2: 173,938,754 (GRCm39) V307M probably benign Het
Svep1 G A 4: 58,179,610 (GRCm39) S211L possibly damaging Het
Tcf12 C T 9: 71,765,904 (GRCm39) S512N probably benign Het
Tiam2 T C 17: 3,501,088 (GRCm39) V909A possibly damaging Het
Tmem64 C T 4: 15,266,343 (GRCm39) A131V probably damaging Het
Tnrc6b C A 15: 80,778,556 (GRCm39) N1176K possibly damaging Het
Trrap C T 5: 144,741,045 (GRCm39) S1264L probably benign Het
Ttn T A 2: 76,640,775 (GRCm39) T13658S possibly damaging Het
Vmn2r104 G A 17: 20,249,889 (GRCm39) T794I probably damaging Het
Vmn2r52 T A 7: 9,904,982 (GRCm39) R286* probably null Het
Vps53 A T 11: 76,068,211 (GRCm39) probably benign Het
Wdr18 A G 10: 79,796,953 (GRCm39) probably benign Het
Wdr31 A G 4: 62,378,755 (GRCm39) probably null Het
Zfp458 T A 13: 67,407,706 (GRCm39) K47* probably null Het
Zfp983 A G 17: 21,880,356 (GRCm39) T95A probably benign Het
Other mutations in Aatf
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TCTCCCACAAGGACTAGTGCAGAAC -3'
(R):5'- GTTTCAGGCTACCAGGACTCATGC -3'

Sequencing Primer
(F):5'- TTAATCGAGGCAGGTCAAACTG -3'
(R):5'- GGATCTGAAGATGGGGATTCAG -3'
Posted On 2013-05-09