Incidental Mutation 'IGL00900:Aatf'
ID28482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aatf
Ensembl Gene ENSMUSG00000018697
Gene Nameapoptosis antagonizing transcription factor
SynonymsTrb, 4933415H02Rik, 5830465M17Rik, Che-1
Accession Numbers

NCBI RefSeq: NM_019816.1; MGI:1929608

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00900
Quality Score
Status
Chromosome11
Chromosomal Location84422855-84513522 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 84470557 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018841]
Predicted Effect probably benign
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148434
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap3 G A 5: 24,476,368 probably benign Het
Angptl2 A T 2: 33,243,772 M369L probably benign Het
Arhgef11 A G 3: 87,683,560 D36G possibly damaging Het
Ccnt1 A G 15: 98,554,633 V134A probably damaging Het
Ces1e T C 8: 93,217,617 H191R probably damaging Het
Dhh A G 15: 98,898,220 probably benign Het
Edil3 C A 13: 89,289,533 H418N probably benign Het
Fam161b T C 12: 84,355,969 I296V probably benign Het
Focad T A 4: 88,129,023 N86K probably damaging Het
Foxn1 C T 11: 78,371,283 G87S probably benign Het
Glipr1l2 T C 10: 112,097,982 Y220H probably benign Het
Hnrnpa1 A G 15: 103,243,739 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ipo11 T C 13: 106,847,444 M797V possibly damaging Het
Klhdc2 T A 12: 69,303,534 F118I probably benign Het
Mtap T A 4: 89,172,357 Y221* probably null Het
Myh2 T C 11: 67,179,384 V414A probably damaging Het
Ncor2 A T 5: 125,025,784 Y1999N probably damaging Het
Olfr1167 A G 2: 88,149,260 F253S possibly damaging Het
Oxsm A G 14: 16,242,023 S249P probably damaging Het
Pabpc4l T A 3: 46,447,072 I46F possibly damaging Het
Pcnx2 A G 8: 125,863,236 probably benign Het
Rasal2 A G 1: 157,411,929 S4P possibly damaging Het
Reln A G 5: 21,980,117 V1534A probably damaging Het
Rnf138 T A 18: 21,020,960 D174E possibly damaging Het
Sh3pxd2a T A 19: 47,314,155 N162Y probably benign Het
Slc6a4 A T 11: 77,023,180 T519S probably benign Het
Slfn9 A T 11: 82,981,371 C846* probably null Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Trip12 A G 1: 84,724,764 S1945P possibly damaging Het
Vmn1r232 A G 17: 20,914,132 F69L probably benign Het
Zeb2 T C 2: 44,997,275 D545G probably damaging Het
Other mutations in Aatf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Aatf APN 11 84470710 missense possibly damaging 0.51
IGL01775:Aatf APN 11 84471137 missense probably damaging 1.00
IGL02881:Aatf APN 11 84471289 splice site probably benign
R0183:Aatf UTSW 11 84510425 splice site probably null
R0200:Aatf UTSW 11 84445676 missense probably damaging 1.00
R0257:Aatf UTSW 11 84510281 missense probably benign 0.33
R0324:Aatf UTSW 11 84512139 critical splice donor site probably null
R0494:Aatf UTSW 11 84511513 missense probably benign
R0544:Aatf UTSW 11 84423005 missense probably benign 0.09
R1186:Aatf UTSW 11 84470549 splice site probably benign
R2339:Aatf UTSW 11 84511497 missense probably benign 0.00
R4626:Aatf UTSW 11 84422958 makesense probably null
R4647:Aatf UTSW 11 84471197 missense possibly damaging 0.69
R4697:Aatf UTSW 11 84449138 missense probably damaging 1.00
R4981:Aatf UTSW 11 84511497 missense probably benign 0.00
R5490:Aatf UTSW 11 84510273 missense probably damaging 1.00
R5938:Aatf UTSW 11 84442574 missense possibly damaging 0.88
R6267:Aatf UTSW 11 84473100 missense probably benign 0.09
R6296:Aatf UTSW 11 84473100 missense probably benign 0.09
R6633:Aatf UTSW 11 84511482 critical splice donor site probably null
R7081:Aatf UTSW 11 84471125 missense possibly damaging 0.84
R7212:Aatf UTSW 11 84449180 missense probably damaging 0.98
R7545:Aatf UTSW 11 84470676 missense probably benign 0.04
R7754:Aatf UTSW 11 84511509 missense possibly damaging 0.53
R7871:Aatf UTSW 11 84471038 frame shift probably null
R8411:Aatf UTSW 11 84470676 missense probably benign 0.04
X0018:Aatf UTSW 11 84510385 missense possibly damaging 0.85
Z1176:Aatf UTSW 11 84442585 missense probably benign 0.01
Posted On2013-04-17