Incidental Mutation 'R1186:Aatf'
ID 102164
Institutional Source Beutler Lab
Gene Symbol Aatf
Ensembl Gene ENSMUSG00000018697
Gene Name apoptosis antagonizing transcription factor
Synonyms Trb, 4933415H02Rik, 5830465M17Rik, Che-1
MMRRC Submission 039258-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1186 (G1)
Quality Score 210
Status Validated
Chromosome 11
Chromosomal Location 84422855-84513522 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 84470549 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018841]
AlphaFold Q9JKX4
Predicted Effect probably benign
Transcript: ENSMUST00000018841
SMART Domains Protein: ENSMUSP00000018841
Gene: ENSMUSG00000018697

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: ENSMUST00000148434
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.5%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 97% (69/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik G A 10: 21,621,652 (GRCm38) R64Q probably benign Het
4932438A13Rik T C 3: 36,996,312 (GRCm38) probably benign Het
9530068E07Rik G A 11: 52,403,078 (GRCm38) V49I probably benign Het
A2m T C 6: 121,661,534 (GRCm38) S902P probably benign Het
Adamtsl1 A G 4: 86,388,509 (GRCm38) T1395A probably benign Het
Alpk2 T C 18: 65,294,341 (GRCm38) probably null Het
Ank3 G T 10: 69,867,460 (GRCm38) A308S probably damaging Het
Arap1 A G 7: 101,404,269 (GRCm38) probably benign Het
C4b T C 17: 34,736,309 (GRCm38) D769G possibly damaging Het
Cep350 A G 1: 155,875,376 (GRCm38) S2017P probably damaging Het
Cfap54 T A 10: 92,875,994 (GRCm38) I2704F unknown Het
Crip2 G A 12: 113,144,959 (GRCm38) probably benign Het
Cyp4f14 T C 17: 32,916,786 (GRCm38) I34V probably benign Het
Dcstamp A G 15: 39,754,629 (GRCm38) probably null Het
Ddx5 T C 11: 106,783,979 (GRCm38) probably null Het
Dnah2 A T 11: 69,515,700 (GRCm38) L572Q probably damaging Het
Espl1 G A 15: 102,304,039 (GRCm38) A527T probably benign Het
Fam83d A G 2: 158,785,174 (GRCm38) D261G probably damaging Het
Fbxo34 T C 14: 47,530,586 (GRCm38) F468L probably damaging Het
Gabarapl1 A T 6: 129,533,405 (GRCm38) probably benign Het
Galnt17 G T 5: 131,111,742 (GRCm38) T179K probably damaging Het
Gm6768 A C 12: 119,261,471 (GRCm38) noncoding transcript Het
Gm6899 C T 11: 26,593,685 (GRCm38) probably benign Het
Helz2 T A 2: 181,231,128 (GRCm38) R2433W probably damaging Het
Hivep3 T C 4: 119,814,723 (GRCm38) probably benign Het
Hsh2d G A 8: 72,200,460 (GRCm38) D229N probably benign Het
Ica1 A G 6: 8,672,326 (GRCm38) L225P probably damaging Het
Inpp5f T C 7: 128,694,583 (GRCm38) I195T probably benign Het
Isyna1 C A 8: 70,595,201 (GRCm38) N115K probably benign Het
Ly6g6e T C 17: 35,078,008 (GRCm38) F75S probably benign Het
Ly96 A G 1: 16,700,894 (GRCm38) D101G possibly damaging Het
Mapk9 A G 11: 49,878,269 (GRCm38) T243A probably damaging Het
Mcc A G 18: 44,759,403 (GRCm38) V48A probably benign Het
Mcpt2 C T 14: 56,043,945 (GRCm38) probably benign Het
Med24 T C 11: 98,717,757 (GRCm38) probably benign Het
Mtbp G A 15: 55,564,671 (GRCm38) G162S probably null Het
Mtfr2 G A 10: 20,352,852 (GRCm38) C48Y probably benign Het
Naip2 AGGG AGG 13: 100,162,037 (GRCm38) probably null Het
Naip2 C T 13: 100,161,981 (GRCm38) A516T possibly damaging Het
Nup107 A C 10: 117,777,146 (GRCm38) Y292* probably null Het
Nwd2 C T 5: 63,650,024 (GRCm38) probably benign Het
Nxpe4 A C 9: 48,393,392 (GRCm38) N260H probably benign Het
Ofcc1 C T 13: 40,208,829 (GRCm38) G206R probably benign Het
Olfr1084 A T 2: 86,639,463 (GRCm38) L82M probably damaging Het
Olfr5 T C 7: 6,480,542 (GRCm38) I205V probably benign Het
Olfr901 T C 9: 38,431,101 (GRCm38) V273A possibly damaging Het
Olfr911-ps1 T C 9: 38,524,157 (GRCm38) S142P probably damaging Het
P2rx7 T C 5: 122,670,451 (GRCm38) Y299H probably damaging Het
Per3 T A 4: 151,026,138 (GRCm38) E401V probably damaging Het
Rbm34 C A 8: 126,965,447 (GRCm38) E182* probably null Het
Sdk2 C T 11: 113,838,646 (GRCm38) silent Het
Senp2 T C 16: 22,011,504 (GRCm38) S38P probably damaging Het
Slc36a2 A T 11: 55,164,231 (GRCm38) probably null Het
Spred1 A T 2: 117,177,697 (GRCm38) R361S possibly damaging Het
Spry2 A G 14: 105,892,907 (GRCm38) C282R probably damaging Het
Srp54b T C 12: 55,255,528 (GRCm38) probably benign Het
Taar8c G C 10: 24,101,565 (GRCm38) Y116* probably null Het
Tchh C G 3: 93,448,046 (GRCm38) R1598G unknown Het
Tex15 A G 8: 33,571,633 (GRCm38) M364V probably benign Het
Ttbk1 T C 17: 46,467,131 (GRCm38) R662G probably damaging Het
Ttc5 G A 14: 50,767,226 (GRCm38) Q374* probably null Het
Usp46 C T 5: 74,002,122 (GRCm38) A312T probably benign Het
Vmn1r176 A T 7: 23,835,626 (GRCm38) L34Q probably damaging Het
Vmn1r178 A T 7: 23,893,892 (GRCm38) R122* probably null Het
Vmn2r6 T A 3: 64,565,067 (GRCm38) M78L probably benign Het
Zfp407 A T 18: 84,209,448 (GRCm38) I2012N probably benign Het
Zfp980 G A 4: 145,702,083 (GRCm38) G461S probably benign Het
Zfyve26 G A 12: 79,263,949 (GRCm38) L161F probably damaging 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
R0257:Aatf UTSW 11 84,510,281 (GRCm38) missense probably benign 0.33
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
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
(F):5'- tggggtgcaggacagtag -3'
Posted On 2014-01-15