Incidental Mutation 'IGL01482:Aatf'
ID88646
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 #IGL01482
Quality Score
Status
Chromosome11
Chromosomal Location84422855-84513522 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 84470710 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 356 (R356C)
Ref Sequence ENSEMBL: ENSMUSP00000018841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018841]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018841
AA Change: R356C

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018841
Gene: ENSMUSG00000018697
AA Change: R356C

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A T 1: 120,171,471 D98V probably benign Het
Abca15 A T 7: 120,382,746 T1095S probably benign Het
Abca9 A G 11: 110,120,773 F1148S probably benign Het
Adam12 G T 7: 133,967,848 D299E probably damaging Het
Alyref A T 11: 120,595,936 N166K possibly damaging Het
Atxn1 A T 13: 45,557,314 I714N probably benign Het
Bves A G 10: 45,354,806 E291G possibly damaging Het
Chrm2 A G 6: 36,523,757 N183S possibly damaging Het
Dennd2a T C 6: 39,480,309 H733R probably damaging Het
Erbb3 C T 10: 128,572,929 G762S possibly damaging Het
Gm29326 A C 7: 29,560,711 noncoding transcript Het
Gm9866 T A 12: 27,141,894 noncoding transcript Het
Itgb2l A T 16: 96,438,748 L17Q probably damaging Het
Jade1 T A 3: 41,613,502 D668E probably benign Het
Ksr1 G A 11: 79,036,583 T308I probably damaging Het
Mfap4 A G 11: 61,487,757 D177G probably damaging Het
Muc2 A T 7: 141,754,060 I369F probably damaging Het
Mut C T 17: 40,956,271 R579C probably damaging Het
Myh13 A T 11: 67,352,068 M936L probably benign Het
Nckap5 G T 1: 126,023,160 S1598Y probably damaging Het
Nlrp10 T A 7: 108,926,952 M60L probably benign Het
Nlrp12 T C 7: 3,235,160 N739S possibly damaging Het
Olfr482 A C 7: 108,095,486 V28G probably benign Het
Pappa A T 4: 65,156,034 H275L probably benign Het
Plekhm2 A G 4: 141,630,029 S711P probably damaging Het
Ptpn1 G A 2: 167,967,792 V107M probably damaging Het
Ptprf G A 4: 118,212,454 R1498C probably damaging Het
Rhobtb2 A G 14: 69,796,588 I396T possibly damaging Het
Ryr1 A G 7: 29,052,337 F3668S probably damaging Het
Serpinb6d T C 13: 33,671,363 V340A probably benign Het
Spaca3 G T 11: 80,867,684 V158L probably benign Het
Tdp1 A G 12: 99,891,380 N66S probably benign Het
Tmem132d A T 5: 128,269,206 I84N probably damaging Het
Uggt2 T A 14: 119,057,645 D523V probably damaging Het
Usp17la A T 7: 104,859,393 M1L probably benign Het
Yeats2 C T 16: 20,222,921 T1202I probably damaging Het
Other mutations in Aatf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Aatf APN 11 84470557 splice site probably benign
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 On2013-11-18