Incidental Mutation 'R5185:Dffa'
ID 397805
Institutional Source Beutler Lab
Gene Symbol Dffa
Ensembl Gene ENSMUSG00000028974
Gene Name DNA fragmentation factor, alpha subunit
Synonyms Dff45, ICAD-S, DFF35, A330085O09Rik, ICAD-L
MMRRC Submission 042764-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5185 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 149188603-149205104 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 149201887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 155 (A155E)
Ref Sequence ENSEMBL: ENSMUSP00000099505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030816] [ENSMUST00000103216]
AlphaFold O54786
Predicted Effect probably benign
Transcript: ENSMUST00000030816
AA Change: A155E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000030816
Gene: ENSMUSG00000028974
AA Change: A155E

DomainStartEndE-ValueType
CAD 19 94 1.79e-47 SMART
Pfam:DFF-C 100 264 1.1e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103216
AA Change: A155E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099505
Gene: ENSMUSG00000028974
AA Change: A155E

DomainStartEndE-ValueType
CAD 19 94 1.79e-47 SMART
Pfam:DFF-C 100 264 2.2e-80 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 95% (70/74)
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. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show increased resistance to apoptosis in response to several apoptotic stimuli, enhanced spatial learning and memory, higher granule cell density and total granule cell number in the dentate gyrus, and resistance to kainic acid-induced CA3 neuronal cell death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf2 T C 11: 94,453,737 (GRCm39) Y408C probably damaging Het
Aox4 T C 1: 58,293,477 (GRCm39) L943S probably damaging Het
Ap1g1 G A 8: 110,589,958 (GRCm39) probably benign Het
Arsb T C 13: 93,930,667 (GRCm39) S212P probably damaging Het
Arsi A G 18: 61,049,984 (GRCm39) N289S probably damaging Het
Atp6v1h T A 1: 5,165,865 (GRCm39) F72I probably damaging Het
Atxn7 T C 14: 14,090,063 (GRCm38) I336T probably benign Het
Bak1 G A 17: 27,241,722 (GRCm39) P65L possibly damaging Het
Bcl6 A T 16: 23,791,697 (GRCm39) M219K possibly damaging Het
Brd3 T C 2: 27,352,460 (GRCm39) K157E probably damaging Het
Ccdc171 T G 4: 83,581,892 (GRCm39) S674A possibly damaging Het
Cfap43 A G 19: 47,768,833 (GRCm39) I737T probably benign Het
Cul9 A T 17: 46,836,758 (GRCm39) V1089D possibly damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Efcab12 T A 6: 115,800,451 (GRCm39) M191L probably benign Het
Efl1 T C 7: 82,421,707 (GRCm39) L1018P probably damaging Het
Fcho1 A G 8: 72,167,600 (GRCm39) probably benign Het
Fndc3b T A 3: 27,511,219 (GRCm39) T764S probably benign Het
Gm29125 T C 1: 80,361,948 (GRCm39) noncoding transcript Het
Gm5108 A G 5: 68,101,953 (GRCm39) probably benign Het
Gm9949 T G 18: 62,313,636 (GRCm39) probably benign Het
Golgb1 T C 16: 36,695,503 (GRCm39) probably benign Het
Gpd2 T C 2: 57,230,216 (GRCm39) Y323H probably damaging Het
Grip1 T G 10: 119,767,164 (GRCm39) D96E probably benign Het
Hmcn1 T C 1: 150,532,492 (GRCm39) I3132V probably benign Het
Hsd17b1 T C 11: 100,971,024 (GRCm39) W327R possibly damaging Het
Htra2 G A 6: 83,031,223 (GRCm39) P62L probably benign Het
Kdr A T 5: 76,113,077 (GRCm39) probably null Het
Kif14 T A 1: 136,455,207 (GRCm39) C1626* probably null Het
Kmt2a A T 9: 44,731,543 (GRCm39) probably benign Het
Krt15 T C 11: 100,024,259 (GRCm39) T321A probably damaging Het
Lactbl1 A T 4: 136,358,356 (GRCm39) H109L probably benign Het
Lilra6 T A 7: 3,917,635 (GRCm39) H120L probably benign Het
Lpcat2 G A 8: 93,596,365 (GRCm39) S134N probably benign Het
Mpp4 T C 1: 59,164,742 (GRCm39) D465G probably benign Het
Naip2 A T 13: 100,325,859 (GRCm39) D16E probably damaging Het
Nek5 C T 8: 22,573,397 (GRCm39) A520T possibly damaging Het
Nfatc2 A G 2: 168,412,627 (GRCm39) F132L possibly damaging Het
Nlrp3 C A 11: 59,455,910 (GRCm39) T902N probably benign Het
Or10d1b A T 9: 39,613,172 (GRCm39) W298R probably benign Het
Or4c123 A T 2: 89,126,731 (GRCm39) H294Q probably benign Het
Or7e165 T C 9: 19,694,672 (GRCm39) M81T probably damaging Het
Or8h7 T C 2: 86,720,946 (GRCm39) D191G probably benign Het
Pcdhb16 T C 18: 37,613,142 (GRCm39) S701P possibly damaging Het
Phf7 A G 14: 30,969,994 (GRCm39) probably null Het
Plpp4 G A 7: 128,918,028 (GRCm39) V68M probably damaging Het
Pnma2 A T 14: 67,153,578 (GRCm39) M1L possibly damaging Het
Pnma8b A T 7: 16,679,901 (GRCm39) D295V probably damaging Het
Rad21l T C 2: 151,499,382 (GRCm39) D270G probably benign Het
Ralgapa2 C A 2: 146,230,406 (GRCm39) probably null Het
Rasal3 A T 17: 32,615,764 (GRCm39) L334Q probably damaging Het
Rfx4 G T 10: 84,699,114 (GRCm39) R240L probably damaging Het
Rnf19b T A 4: 128,977,713 (GRCm39) C642* probably null Het
Slc28a2 G A 2: 122,288,675 (GRCm39) E594K probably benign Het
Spata31 G T 13: 65,065,340 (GRCm39) W15L possibly damaging Het
Spink5 T C 18: 44,148,711 (GRCm39) S925P probably damaging Het
Svep1 C T 4: 58,084,534 (GRCm39) G1865S probably damaging Het
Tg T C 15: 66,645,323 (GRCm39) L791P probably damaging Het
Thbs4 A C 13: 92,911,675 (GRCm39) V247G probably damaging Het
Tpcn2 A T 7: 144,809,191 (GRCm39) F705Y probably damaging Het
Try10 A T 6: 41,333,483 (GRCm39) H76L probably damaging Het
Ttn C T 2: 76,769,565 (GRCm39) V2695I probably damaging Het
Tut1 C A 19: 8,932,814 (GRCm39) T49N probably benign Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Xdh G A 17: 74,232,006 (GRCm39) R235C probably damaging Het
Yipf4 A G 17: 74,799,470 (GRCm39) D70G probably null Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Other mutations in Dffa
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1475:Dffa UTSW 4 149,201,935 (GRCm39) missense probably damaging 1.00
R1672:Dffa UTSW 4 149,190,702 (GRCm39) missense probably damaging 1.00
R1950:Dffa UTSW 4 149,188,839 (GRCm39) missense probably benign 0.05
R3856:Dffa UTSW 4 149,188,708 (GRCm39) start codon destroyed possibly damaging 0.62
R5238:Dffa UTSW 4 149,188,760 (GRCm39) missense probably benign 0.04
R5280:Dffa UTSW 4 149,202,391 (GRCm39) missense probably benign 0.00
R5514:Dffa UTSW 4 149,190,772 (GRCm39) critical splice donor site probably null
R9168:Dffa UTSW 4 149,192,226 (GRCm39) missense probably damaging 1.00
R9649:Dffa UTSW 4 149,202,276 (GRCm39) missense probably benign 0.00
R9651:Dffa UTSW 4 149,190,674 (GRCm39) missense probably damaging 1.00
X0065:Dffa UTSW 4 149,203,588 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTTTGTTCTTTGACGCCGG -3'
(R):5'- GCAGTGGGAGTCTTACCTTTC -3'

Sequencing Primer
(F):5'- GACGCCGGTTTTCACCCTAG -3'
(R):5'- CTGGTTGGACAAGATGTTGCCC -3'
Posted On 2016-07-06