Incidental Mutation 'R4562:Dffb'
ID 343129
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 041787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4562 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 154048904-154059578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154049913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 317 (C317R)
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: C317R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030893
Gene: ENSMUSG00000029027
AA Change: C317R

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 0.9327 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 G A 3: 36,120,331 (GRCm39) R25K probably benign Het
Acap1 C T 11: 69,776,177 (GRCm39) probably benign Het
Aox1 T C 1: 58,098,215 (GRCm39) L309P probably damaging Het
Asap2 A G 12: 21,162,094 (GRCm39) D17G probably damaging Het
Atp8b1 A T 18: 64,689,962 (GRCm39) V590D probably damaging Het
Bace2 G A 16: 97,223,180 (GRCm39) R368Q probably damaging Het
Cad G A 5: 31,215,477 (GRCm39) S96N possibly damaging Het
Csmd3 T C 15: 47,763,240 (GRCm39) T1303A probably benign Het
Defa24 A G 8: 22,224,523 (GRCm39) probably benign Het
Erap1 T C 13: 74,821,778 (GRCm39) V711A probably benign Het
Esco1 A G 18: 10,595,074 (GRCm39) S71P possibly damaging Het
Evpl G A 11: 116,124,225 (GRCm39) T198M possibly damaging Het
Gm10797 A G 10: 67,408,515 (GRCm39) noncoding transcript Het
Gm10822 C T 2: 73,729,833 (GRCm39) noncoding transcript Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Ift22 A G 5: 136,941,724 (GRCm39) E152G probably benign Het
Ighv3-5 T A 12: 114,226,498 (GRCm39) T25S possibly damaging Het
Ivl CCTGCTGCTGCT CCTGCTGCTGCTGCT 3: 92,479,262 (GRCm39) probably benign Het
Kcna5 T C 6: 126,511,303 (GRCm39) H275R probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Klf14 G A 6: 30,935,394 (GRCm39) A80V probably damaging Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Lypd8 T A 11: 58,273,215 (GRCm39) probably null Het
Mef2b G A 8: 70,619,918 (GRCm39) D345N probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mtmr10 C T 7: 63,963,907 (GRCm39) T214M possibly damaging Het
Or10g9b A G 9: 39,917,577 (GRCm39) S223P probably damaging Het
Or13g1 A G 7: 85,956,360 (GRCm39) probably benign Het
Or4f4b A T 2: 111,313,909 (GRCm39) M45L probably benign Het
Orc1 T C 4: 108,459,252 (GRCm39) probably null Het
P4htm T C 9: 108,459,195 (GRCm39) S246G probably null Het
Pax2 A G 19: 44,824,402 (GRCm39) Y374C unknown Het
Pde6b A G 5: 108,551,234 (GRCm39) K173E probably benign Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Plekhh2 A G 17: 84,873,525 (GRCm39) D270G probably benign Het
Prr5 A C 15: 84,626,114 (GRCm39) D63A probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Ryr1 C A 7: 28,774,005 (GRCm39) probably benign Het
Slc4a1ap G A 5: 31,689,373 (GRCm39) V347M probably damaging Het
Tasor A G 14: 27,188,265 (GRCm39) T904A possibly damaging Het
Tln1 C A 4: 43,533,598 (GRCm39) A2319S probably damaging Het
Tm6sf1 G A 7: 81,509,209 (GRCm39) A5T probably damaging Het
Tmem117 A T 15: 94,992,677 (GRCm39) M446L probably benign Het
Tnfrsf22 C T 7: 143,203,313 (GRCm39) R19Q unknown Het
Tnfsf11 T C 14: 78,516,020 (GRCm39) D316G probably damaging Het
Trerf1 G A 17: 47,637,997 (GRCm39) noncoding transcript Het
Ttc13 A G 8: 125,402,016 (GRCm39) L657P probably damaging Het
Unc79 C T 12: 102,957,720 (GRCm39) T45I probably damaging Het
Usp3 G T 9: 66,428,047 (GRCm39) probably benign Het
Vmn2r-ps158 C T 7: 42,672,986 (GRCm39) Q130* probably null Het
Wdr31 A C 4: 62,372,159 (GRCm39) L319W probably damaging Het
Zfp947 G T 17: 22,365,124 (GRCm39) Y183* probably null 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
R3624:Dffb UTSW 4 154,049,976 (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'- ATCACAGTGGCCAAGTTCAG -3'
(R):5'- TGGTAGACACTGCATCCACAG -3'

Sequencing Primer
(F):5'- GCCAAGTTCAGCCCTGG -3'
(R):5'- GCACTCACAGTAGAATGGTTGTCTC -3'
Posted On 2015-09-24