Incidental Mutation 'R0200:Aatf'
ID 23585
Institutional Source Beutler Lab
Gene Symbol Aatf
Ensembl Gene ENSMUSG00000018697
Gene Name apoptosis antagonizing transcription factor
Synonyms 5830465M17Rik, Trb, 4933415H02Rik, Che-1
MMRRC Submission 038457-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0200 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 84313681-84404348 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84336502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 466 (K466E)
Ref Sequence ENSEMBL: ENSMUSP00000018841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018841]
AlphaFold Q9JKX4
Predicted Effect probably damaging
Transcript: ENSMUST00000018841
AA Change: K466E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018841
Gene: ENSMUSG00000018697
AA Change: K466E

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: ENSMUST00000127042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141093
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 86.2%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,245,900 (GRCm39) D1245G probably damaging Het
Adam12 T C 7: 133,576,145 (GRCm39) probably null Het
Akap11 A G 14: 78,748,193 (GRCm39) V1398A probably benign Het
Ank1 T G 8: 23,586,828 (GRCm39) L461R probably damaging Het
Ankfn1 T C 11: 89,332,792 (GRCm39) S402G possibly damaging Het
Arhgef40 A C 14: 52,234,431 (GRCm39) E911D probably damaging Het
Atp2b1 C T 10: 98,815,676 (GRCm39) Q107* probably null Het
Cacng3 T A 7: 122,271,008 (GRCm39) C4* probably null Het
Cds1 G A 5: 101,962,299 (GRCm39) V305M probably damaging Het
Cecr2 T G 6: 120,738,758 (GRCm39) F1162V probably damaging Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Chrm5 A G 2: 112,311,065 (GRCm39) V17A probably benign Het
Col20a1 T C 2: 180,642,231 (GRCm39) I714T probably damaging Het
Cpeb2 T A 5: 43,419,119 (GRCm39) M156K possibly damaging Het
Cstdc6 T C 16: 36,143,386 (GRCm39) probably null Het
Defb25 C A 2: 152,464,332 (GRCm39) V71L probably benign Het
Dhx35 A T 2: 158,671,543 (GRCm39) M325L probably benign Het
Dhx57 A T 17: 80,558,902 (GRCm39) L1019H probably damaging Het
Dnah6 T A 6: 73,046,403 (GRCm39) D3195V probably damaging Het
Dph5 A G 3: 115,722,352 (GRCm39) S277G probably benign Het
Dpm1 C A 2: 168,065,075 (GRCm39) probably null Het
Dsg1a A T 18: 20,473,995 (GRCm39) M1023L probably benign Het
Egf A G 3: 129,499,882 (GRCm39) Y252H probably benign Het
Egf A G 3: 129,531,198 (GRCm39) S126P probably damaging Het
Enam T C 5: 88,640,886 (GRCm39) W183R possibly damaging Het
Foxn1 T C 11: 78,251,866 (GRCm39) Y455C probably damaging Het
Iars1 A T 13: 49,879,678 (GRCm39) D983V possibly damaging Het
Ikzf4 C A 10: 128,470,545 (GRCm39) G325V probably damaging Het
Il1rl1 T A 1: 40,480,463 (GRCm39) W31R possibly damaging Het
Ip6k3 C T 17: 27,363,999 (GRCm39) D350N probably damaging Het
Irgc T C 7: 24,131,431 (GRCm39) D462G probably benign Het
Itprid1 T C 6: 55,874,941 (GRCm39) L297P probably benign Het
Jph3 A G 8: 122,511,572 (GRCm39) E520G probably benign Het
Kcna2 T A 3: 107,012,476 (GRCm39) D352E probably benign Het
Klk4 T A 7: 43,534,785 (GRCm39) I248N probably damaging Het
Krtap16-1 T C 11: 99,876,123 (GRCm39) Y427C probably damaging Het
Lgr4 A G 2: 109,801,035 (GRCm39) probably null Het
Lhpp C T 7: 132,212,406 (GRCm39) probably benign Het
Lypd3 T A 7: 24,339,656 (GRCm39) V241D probably damaging Het
Lyz2 T A 10: 117,116,678 (GRCm39) N57Y possibly damaging Het
Man1a A G 10: 53,950,594 (GRCm39) V176A probably damaging Het
Mcm4 G A 16: 15,447,503 (GRCm39) T487I probably benign Het
Mettl21c T A 1: 44,052,814 (GRCm39) I68F probably damaging Het
Miip T A 4: 147,946,720 (GRCm39) T313S probably damaging Het
Minar2 A G 18: 59,195,531 (GRCm39) probably null Het
Mog A T 17: 37,323,311 (GRCm39) I209K probably damaging Het
Myo1c C A 11: 75,563,008 (GRCm39) D997E probably benign Het
Npc1 T C 18: 12,352,261 (GRCm39) Y146C probably damaging Het
Nploc4 A G 11: 120,304,507 (GRCm39) L238P probably damaging Het
Opa1 A G 16: 29,432,947 (GRCm39) N544S probably benign Het
Or2j6 T C 7: 139,980,788 (GRCm39) Y57C probably damaging Het
Or2v1 T A 11: 49,025,874 (GRCm39) M285K probably damaging Het
Or6k6 T C 1: 173,945,078 (GRCm39) H168R probably benign Het
Pam C T 1: 97,822,126 (GRCm39) probably null Het
Pdgfra T C 5: 75,324,438 (GRCm39) Y98H probably damaging Het
Plcz1 C T 6: 139,936,459 (GRCm39) R590H probably damaging Het
Plxdc1 T C 11: 97,824,838 (GRCm39) Y339C probably damaging Het
Plxna1 T C 6: 89,300,575 (GRCm39) N1583S probably damaging Het
Plxna4 C T 6: 32,174,023 (GRCm39) V1191M probably damaging Het
Polk T A 13: 96,633,330 (GRCm39) N238Y probably benign Het
Ptprq T C 10: 107,521,018 (GRCm39) N718S probably benign Het
Rsrc1 A T 3: 67,088,194 (GRCm39) H176L probably damaging Het
Sbno1 T C 5: 124,522,604 (GRCm39) D1072G probably damaging Het
Scmh1 A G 4: 120,341,028 (GRCm39) K238R probably damaging Het
Senp7 A G 16: 55,944,236 (GRCm39) T187A possibly damaging Het
Slc12a4 T C 8: 106,678,249 (GRCm39) R315G probably benign Het
Slc16a10 A G 10: 39,916,612 (GRCm39) V430A probably benign Het
Slc26a7 T C 4: 14,621,317 (GRCm39) D23G probably benign Het
Slc28a2b T A 2: 122,357,928 (GRCm39) *661R probably null Het
Slc7a7 A G 14: 54,615,259 (GRCm39) L246P probably damaging Het
Spata7 T A 12: 98,629,428 (GRCm39) S332T probably benign Het
Spsb1 A G 4: 149,982,673 (GRCm39) *274R probably null Het
Sspo T G 6: 48,463,349 (GRCm39) V3767G probably null Het
Syt10 C A 15: 89,711,144 (GRCm39) A130S probably benign Het
Tgm6 T A 2: 129,994,865 (GRCm39) probably null Het
Them7 A C 2: 105,128,262 (GRCm39) N81T probably damaging Het
Tinag C A 9: 76,859,217 (GRCm39) A464S probably damaging Het
Tmem217 T G 17: 29,745,284 (GRCm39) I149L probably benign Het
Trp53rkb T G 2: 166,637,603 (GRCm39) D186E probably damaging Het
Vmn1r20 T C 6: 57,409,084 (GRCm39) Y137H probably damaging Het
Vmn1r60 T A 7: 5,547,379 (GRCm39) L240F probably benign Het
Vmn1r64 A G 7: 5,886,817 (GRCm39) M242T probably benign Het
Xkr4 T C 1: 3,740,886 (GRCm39) N229S probably benign Het
Zcchc2 T A 1: 105,931,853 (GRCm39) L352M probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp638 T C 6: 83,944,336 (GRCm39) L1018P probably damaging 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
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
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'- CAGAATCATGAGCAATGGGTGTAGCAA -3'
(R):5'- GCAGACTGGCAGGCTGAGTG -3'

Sequencing Primer
(F):5'- cacatacaagaatactgtcaactcc -3'
(R):5'- ATTAGTCACTTTGGCCCAAGAC -3'
Posted On 2013-04-16