Incidental Mutation 'R9406:Aatf'
ID 711546
Institutional Source Beutler Lab
Gene Symbol Aatf
Ensembl Gene ENSMUSG00000018697
Gene Name apoptosis antagonizing transcription factor
Synonyms 5830465M17Rik, Trb, 4933415H02Rik, Che-1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9406 (G1)
Quality Score 169.468
Status Not validated
Chromosome 11
Chromosomal Location 84313681-84404348 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) ACACACACACACACACACACACACACACACACACACACACACACACAC to ACACACACACACACACACACACACACACACACACACACACACACACACAC at 84361866 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 null
Transcript: ENSMUST00000018841
SMART Domains Protein: ENSMUSP00000018841
Gene: ENSMUSG00000018697

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik A G 17: 35,879,487 (GRCm39) Y275C possibly damaging Het
4932414N04Rik A G 2: 68,498,019 (GRCm39) K150R unknown Het
Ank3 C A 10: 69,645,011 (GRCm39) T92K unknown Het
Armh4 C T 14: 50,010,945 (GRCm39) G254E possibly damaging Het
Cdca2 T C 14: 67,937,772 (GRCm39) S294G unknown Het
Cerk A G 15: 86,028,787 (GRCm39) I423T possibly damaging Het
Cfap74 A T 4: 155,510,626 (GRCm39) K404* probably null Het
Cftr T C 6: 18,299,866 (GRCm39) V1213A probably benign Het
Chst11 A G 10: 83,026,881 (GRCm39) T103A possibly damaging Het
Col22a1 A G 15: 71,845,541 (GRCm39) I407T probably damaging Het
Cpn2 A G 16: 30,078,360 (GRCm39) V447A probably benign Het
Crybg3 T C 16: 59,378,839 (GRCm39) E805G probably benign Het
Cstb A G 10: 78,263,173 (GRCm39) H66R probably benign Het
Cyp2g1 T C 7: 26,518,910 (GRCm39) probably null Het
Fkbp1b G T 12: 4,883,732 (GRCm39) H88N probably benign Het
Gm4884 A T 7: 40,692,565 (GRCm39) D178V probably damaging Het
Grik5 T C 7: 24,757,969 (GRCm39) T371A probably benign Het
Hydin G A 8: 111,314,412 (GRCm39) G4299S probably null Het
Ibtk A T 9: 85,603,393 (GRCm39) Y537* probably null Het
Ighv8-9 A G 12: 115,432,257 (GRCm39) L18P probably damaging Het
Lbp G T 2: 158,159,477 (GRCm39) K203N probably benign Het
Lilra6 C T 7: 3,917,853 (GRCm39) R97Q probably benign Het
Man1c1 A G 4: 134,303,318 (GRCm39) I392T probably damaging Het
Mcf2l A T 8: 13,059,676 (GRCm39) H727L probably damaging Het
Med7 T A 11: 46,331,865 (GRCm39) F153L probably benign Het
Neurl1b G C 17: 26,657,820 (GRCm39) V253L probably benign Het
Noc2l T C 4: 156,320,511 (GRCm39) S4P probably benign Het
Obscn A C 11: 58,947,805 (GRCm39) F4408C Het
Or1j17 A G 2: 36,578,296 (GRCm39) Y94C possibly damaging Het
Or4f62 A G 2: 111,986,643 (GRCm39) I116V probably benign Het
Orc2 T C 1: 58,506,842 (GRCm39) Q498R probably damaging Het
Oxsm A C 14: 16,242,531 (GRCm38) D79E probably benign Het
Pask G A 1: 93,251,987 (GRCm39) T464I probably benign Het
Pcdha8 A G 18: 37,126,922 (GRCm39) N468S probably damaging Het
Pcm1 T A 8: 41,728,722 (GRCm39) V565E probably damaging Het
Pcsk5 T C 19: 17,771,097 (GRCm39) I67V probably benign Het
Pde4d A G 13: 109,877,064 (GRCm39) D139G probably damaging Het
Pdzd8 C T 19: 59,333,245 (GRCm39) E259K Het
Phactr3 T C 2: 177,925,856 (GRCm39) L377P probably damaging Het
Ppargc1b G A 18: 61,444,051 (GRCm39) P387S possibly damaging Het
Prmt7 T G 8: 106,970,435 (GRCm39) V426G probably damaging Het
Rab39 G C 9: 53,597,915 (GRCm39) P117A probably damaging Het
Rab40b G A 11: 121,254,352 (GRCm39) R62* probably null Het
Rpf1 T G 3: 146,213,937 (GRCm39) H220P probably damaging Het
Rps6kl1 A G 12: 85,186,280 (GRCm39) I276T probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Sestd1 G A 2: 77,075,421 (GRCm39) probably benign Het
Slc38a6 T A 12: 73,376,767 (GRCm39) Y140* probably null Het
Smpd1 C A 7: 105,203,750 (GRCm39) H4Q possibly damaging Het
Sox8 A T 17: 25,786,634 (GRCm39) S356R probably damaging Het
Tapbpl A G 6: 125,205,319 (GRCm39) L209P probably damaging Het
Txndc11 A G 16: 10,893,498 (GRCm39) L744P probably benign Het
Ush2a C T 1: 187,995,646 (GRCm39) P139L probably benign Het
Vmn1r54 A T 6: 90,246,092 (GRCm39) N2I probably damaging Het
Vmn2r112 C T 17: 22,824,223 (GRCm39) Q493* probably null Het
Vps16 T C 2: 130,283,425 (GRCm39) probably null Het
Zfp40 A T 17: 23,396,129 (GRCm39) S153T possibly damaging Het
Zfp523 G A 17: 28,416,840 (GRCm39) A109T probably benign Het
Zfp78 A T 7: 6,382,182 (GRCm39) N411Y 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
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
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'- AGAGTTCTCTTTTCAGGCGG -3'
(R):5'- GCTAGAGATGGAGGACTATCCC -3'

Sequencing Primer
(F):5'- GAGTATGCCTACCACAGTTCTCAG -3'
(R):5'- ATGGAGGACTATCCCAGCTTCATG -3'
Posted On 2022-05-16