Incidental Mutation 'R8731:Dffb'
ID 662744
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 068579-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8731 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 154048904-154059578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154059101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 59 (T59A)
Ref Sequence ENSEMBL: ENSMUSP00000030893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030893] [ENSMUST00000047497] [ENSMUST00000133607]
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 possibly damaging
Transcript: ENSMUST00000030893
AA Change: T59A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030893
Gene: ENSMUSG00000029027
AA Change: T59A

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: ENSMUST00000047497
SMART Domains Protein: ENSMUSP00000040762
Gene: ENSMUSG00000039523

DomainStartEndE-ValueType
coiled coil region 222 249 N/A INTRINSIC
low complexity region 288 301 N/A INTRINSIC
low complexity region 307 320 N/A INTRINSIC
SCOP:d1gw5b_ 523 646 3e-5 SMART
coiled coil region 688 730 N/A INTRINSIC
low complexity region 889 903 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000133607
AA Change: T59A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 95.9%
Validation Efficiency 100% (48/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A T 3: 59,932,367 (GRCm39) D294V probably benign Het
Abcc8 T G 7: 45,803,986 (GRCm39) Y396S probably damaging Het
Ace T A 11: 105,861,426 (GRCm39) F192I possibly damaging Het
Apeh A G 9: 107,964,422 (GRCm39) S494P probably benign Het
Bod1 A G 11: 31,619,242 (GRCm39) probably null Het
Cap2 T C 13: 46,800,006 (GRCm39) M404T probably benign Het
Cc2d2a A T 5: 43,892,788 (GRCm39) D1450V probably damaging Het
Cdk5rap2 A T 4: 70,163,747 (GRCm39) probably benign Het
Clip1 A C 5: 123,752,756 (GRCm39) S342A Het
Cox10 A G 11: 63,855,045 (GRCm39) F412S probably damaging Het
Cracr2a T G 6: 127,602,890 (GRCm39) probably null Het
Dcaf7 T A 11: 105,945,548 (GRCm39) M299K possibly damaging Het
Dgkd A G 1: 87,844,535 (GRCm39) M234V possibly damaging Het
Disp1 A T 1: 182,869,072 (GRCm39) V1116E possibly damaging Het
Dpysl3 C T 18: 43,571,157 (GRCm39) C39Y probably damaging Het
Dync1h1 T A 12: 110,607,018 (GRCm39) V2565D possibly damaging Het
Fam227b A T 2: 125,968,898 (GRCm39) Y59N possibly damaging Het
Gm21680 A T 5: 26,173,230 (GRCm39) V210D probably damaging Het
Gm57858 A T 3: 36,089,434 (GRCm39) N163K probably benign Het
Gnas T C 2: 174,126,699 (GRCm39) V78A probably benign Het
Gpr179 T C 11: 97,234,555 (GRCm39) T509A probably damaging Het
Igfn1 A G 1: 135,925,574 (GRCm39) M60T probably benign Het
Llgl2 A G 11: 115,742,016 (GRCm39) Q686R probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Mylk3 T G 8: 86,085,634 (GRCm39) E300A probably benign Het
Myo1b A C 1: 51,799,570 (GRCm39) probably benign Het
Myo9b T C 8: 71,806,486 (GRCm39) probably null Het
Nalcn T C 14: 123,837,266 (GRCm39) I33V probably benign Het
Nsl1 A G 1: 190,814,609 (GRCm39) Y270C probably damaging Het
Or5af1 C T 11: 58,722,268 (GRCm39) A96V probably benign Het
Otulin A G 15: 27,608,928 (GRCm39) M205T probably benign Het
Plch1 A T 3: 63,605,059 (GRCm39) V1615E probably benign Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Scn3a A T 2: 65,298,507 (GRCm39) Y1397* probably null Het
Scrib A T 15: 75,935,488 (GRCm39) H549Q probably benign Het
Slc36a4 A G 9: 15,631,048 (GRCm39) I56V possibly damaging Het
Spata7 T A 12: 98,624,541 (GRCm39) S148T probably damaging Het
Stk31 T A 6: 49,415,435 (GRCm39) L590Q probably benign Het
Tanc1 T C 2: 59,673,596 (GRCm39) V1567A probably benign Het
Tspan33 T C 6: 29,717,310 (GRCm39) F237S probably damaging Het
Uhrf1 T A 17: 56,629,363 (GRCm39) L737Q probably damaging Het
Vmn2r2 A G 3: 64,024,404 (GRCm39) F726L probably benign Het
Vmn2r65 A T 7: 84,589,447 (GRCm39) L823* probably null Het
Vps11 T C 9: 44,265,756 (GRCm39) N508D probably benign 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
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
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'- CATTCAGAGCCTTTAACCAGATCTTC -3'
(R):5'- TCCAGGTGGGTCTTGCATTC -3'

Sequencing Primer
(F):5'- AGATCTTCTGGGTTCCTGCC -3'
(R):5'- ATTCCGGGCAAGCACTG -3'
Posted On 2021-03-08