Incidental Mutation 'R3624:Dffb'
ID 269309
Institutional Source Beutler Lab
Gene Symbol Dffb
Ensembl Gene ENSMUSG00000029027
Gene Name DNA fragmentation factor, beta subunit
Synonyms Didff, caspase-activated DNase, CAD, 5730477D02Rik, CPAN, 40kDa, DFF40
MMRRC Submission 040678-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3624 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 154048904-154059578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154049976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 296 (T296A)
Ref Sequence ENSEMBL: ENSMUSP00000030893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030893] [ENSMUST00000058393] [ENSMUST00000105645] [ENSMUST00000133607] [ENSMUST00000141493] [ENSMUST00000147826]
AlphaFold O54788
PDB Structure NMR STRUCTURE OF THE CAD DOMAIN OF CASPASE-ACTIVATED DNASE [SOLUTION NMR]
NMR STRUCTURE OF THE HETERODIMERIC COMPLEX BETWEEN CAD DOMAINS OF CAD AND ICAD [SOLUTION NMR]
CRYSTAL STRUCTURE OF CASPASE-ACTIVATED DNASE (CAD) [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000030893
AA Change: T296A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030893
Gene: ENSMUSG00000029027
AA Change: T296A

DomainStartEndE-ValueType
CAD 9 81 2.48e-41 SMART
Pfam:DFF40 103 324 9.4e-97 PFAM
low complexity region 330 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000058393
SMART Domains Protein: ENSMUSP00000054638
Gene: ENSMUSG00000047613

DomainStartEndE-ValueType
Pfam:UPF0688 6 228 9.9e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133524
Predicted Effect probably benign
Transcript: ENSMUST00000133607
Predicted Effect probably benign
Transcript: ENSMUST00000141493
Predicted Effect probably benign
Transcript: ENSMUST00000147826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219093
Meta Mutation Damage Score 0.7634 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and developmentally normal; however, mutant thymocytes and other cell types fail to undergo apoptotic DNA fragmentation in response to dexamethasone or other apoptotic stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 A G 11: 7,080,348 (GRCm39) T364A probably benign Het
Adcy2 T C 13: 68,790,650 (GRCm39) T905A probably damaging Het
Akap9 C A 5: 4,026,235 (GRCm39) Q1297K possibly damaging Het
Ankrd53 A G 6: 83,740,244 (GRCm39) E104G possibly damaging Het
Anks1 T C 17: 28,205,262 (GRCm39) F274L probably damaging Het
Btaf1 A G 19: 36,958,486 (GRCm39) T668A probably benign Het
Coch A G 12: 51,649,609 (GRCm39) I307V probably benign Het
Colec11 T C 12: 28,644,907 (GRCm39) M196V probably benign Het
Cyp2c54 A G 19: 40,058,688 (GRCm39) I248T probably benign Het
D17H6S53E A G 17: 35,346,512 (GRCm39) E141G probably benign Het
Dock8 A G 19: 25,057,241 (GRCm39) Q216R probably benign Het
Elp1 C T 4: 56,798,708 (GRCm39) V85M possibly damaging Het
Emilin3 T C 2: 160,750,177 (GRCm39) D477G possibly damaging Het
Esp4 A G 17: 40,913,484 (GRCm39) K117R unknown Het
Fam186b A G 15: 99,178,396 (GRCm39) L310S probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,957 (GRCm39) T20A possibly damaging Het
Htr1d T C 4: 136,170,815 (GRCm39) I348T probably damaging Het
Hyal4 A T 6: 24,765,737 (GRCm39) S364C probably damaging Het
Igkv1-133 A T 6: 67,701,944 (GRCm39) Q16L probably benign Het
Irs2 C T 8: 11,057,643 (GRCm39) G263D probably damaging Het
Itih3 A G 14: 30,636,700 (GRCm39) Y38H probably damaging Het
Kif21a A G 15: 90,849,798 (GRCm39) V35A probably damaging Het
Klhl14 A T 18: 21,690,953 (GRCm39) V499D probably damaging Het
Kmt2d T C 15: 98,740,783 (GRCm39) probably benign Het
Loxl4 A G 19: 42,596,015 (GRCm39) V146A probably benign Het
Met A T 6: 17,549,085 (GRCm39) D979V probably damaging Het
Mga A G 2: 119,772,245 (GRCm39) T1702A probably damaging Het
Midn A G 10: 79,986,144 (GRCm39) D78G probably benign Het
Mlh3 C T 12: 85,315,169 (GRCm39) C339Y probably damaging Het
Mog T C 17: 37,323,338 (GRCm39) H200R possibly damaging Het
Nadk2 T A 15: 9,084,303 (GRCm39) W139R probably damaging Het
Nsd3 A G 8: 26,152,835 (GRCm39) T392A probably damaging Het
Pbld2 T C 10: 62,897,470 (GRCm39) L57P probably damaging Het
Racgap1 T A 15: 99,540,772 (GRCm39) N26I probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rspry1 A G 8: 95,376,405 (GRCm39) D309G probably damaging Het
Sgcz T C 8: 38,420,201 (GRCm39) E17G probably damaging Het
Slc16a10 A G 10: 40,017,890 (GRCm39) V48A probably benign Het
Smad1 A G 8: 80,066,327 (GRCm39) V450A probably benign Het
Smad9 C T 3: 54,696,705 (GRCm39) R257W probably damaging Het
Snrpb C A 2: 130,017,299 (GRCm39) R73L probably null Het
Spag11a A G 8: 19,209,417 (GRCm39) D69G probably benign Het
Sptbn1 T C 11: 30,090,593 (GRCm39) H559R probably damaging Het
Strn3 T C 12: 51,707,999 (GRCm39) Y132C possibly damaging Het
Tasor2 T C 13: 3,645,556 (GRCm39) T98A probably benign Het
Tgm6 T A 2: 129,993,681 (GRCm39) V640E possibly damaging Het
Trim54 G A 5: 31,294,320 (GRCm39) V319M possibly damaging Het
Trpm1 A G 7: 63,894,601 (GRCm39) Y951C probably damaging Het
Ube3a T A 7: 58,921,860 (GRCm39) N77K probably damaging Het
Uhrf1 C T 17: 56,624,023 (GRCm39) T482I probably damaging Het
Veph1 C T 3: 66,122,858 (GRCm39) V224I probably benign Het
Vmn1r30 A T 6: 58,412,437 (GRCm39) F132I probably benign Het
Vmn1r88 A C 7: 12,911,790 (GRCm39) M49L probably benign Het
Vmn2r24 A G 6: 123,792,997 (GRCm39) R775G probably damaging Het
Zfp60 T A 7: 27,448,753 (GRCm39) F474I probably benign Het
Zkscan8 C T 13: 21,704,946 (GRCm39) R259Q probably damaging Het
Other mutations in Dffb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Dffb APN 4 154,050,073 (GRCm39) unclassified probably benign
R0243:Dffb UTSW 4 154,049,835 (GRCm39) nonsense probably null
R0244:Dffb UTSW 4 154,059,072 (GRCm39) missense probably benign 0.33
R2483:Dffb UTSW 4 154,049,976 (GRCm39) missense probably damaging 1.00
R3622:Dffb UTSW 4 154,049,976 (GRCm39) missense probably damaging 1.00
R3623:Dffb UTSW 4 154,049,976 (GRCm39) missense probably damaging 1.00
R4562:Dffb UTSW 4 154,049,913 (GRCm39) missense probably damaging 1.00
R4912:Dffb UTSW 4 154,049,864 (GRCm39) unclassified probably benign
R5015:Dffb UTSW 4 154,057,416 (GRCm39) missense possibly damaging 0.84
R5986:Dffb UTSW 4 154,050,050 (GRCm39) missense probably damaging 1.00
R6950:Dffb UTSW 4 154,054,549 (GRCm39) missense probably benign
R7395:Dffb UTSW 4 154,053,570 (GRCm39) missense probably damaging 1.00
R7986:Dffb UTSW 4 154,054,504 (GRCm39) missense probably damaging 0.99
R8731:Dffb UTSW 4 154,059,101 (GRCm39) missense possibly damaging 0.93
R8910:Dffb UTSW 4 154,057,416 (GRCm39) missense possibly damaging 0.84
R9709:Dffb UTSW 4 154,059,121 (GRCm39) missense probably damaging 1.00
Z1176:Dffb UTSW 4 154,057,300 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCACAGGAACACGATGAG -3'
(R):5'- GTGGTAGACACTGCATCCACAG -3'

Sequencing Primer
(F):5'- ATGAGCACCGGCACTGAC -3'
(R):5'- TGCATCCACAGACAGCGAGTG -3'
Posted On 2015-02-19