Incidental Mutation 'R9168:Dffa'
ID 696169
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R9168 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 149188603-149205104 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 149192226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 100 (D100V)
Ref Sequence ENSEMBL: ENSMUSP00000030816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030816] [ENSMUST00000103216]
AlphaFold O54786
PDB Structure NMR STRUCTURE OF THE HETERODIMERIC COMPLEX BETWEEN CAD DOMAINS OF CAD AND ICAD [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000030816
AA Change: D100V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030816
Gene: ENSMUSG00000028974
AA Change: D100V

DomainStartEndE-ValueType
CAD 19 94 1.79e-47 SMART
Pfam:DFF-C 100 264 1.1e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103216
AA Change: D100V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099505
Gene: ENSMUSG00000028974
AA Change: D100V

DomainStartEndE-ValueType
CAD 19 94 1.79e-47 SMART
Pfam:DFF-C 100 264 2.2e-80 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 97% (67/69)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alppl2 T C 1: 87,015,050 (GRCm39) Y437C probably damaging Het
Arhgef11 T G 3: 87,633,790 (GRCm39) L808R probably damaging Het
Armc7 G A 11: 115,366,724 (GRCm39) probably benign Het
Ascl1 T C 10: 87,328,361 (GRCm39) N197S probably benign Het
Cdc42bpb T G 12: 111,286,517 (GRCm39) E630D possibly damaging Het
Cep128 T C 12: 91,233,794 (GRCm39) I425V probably damaging Het
Ces4a T A 8: 105,876,050 (GRCm39) D530E probably benign Het
Ch25h T C 19: 34,451,905 (GRCm39) I208V probably benign Het
Cnpy3 A C 17: 47,063,019 (GRCm39) C11G unknown Het
Col12a1 A C 9: 79,548,783 (GRCm39) Y2187* probably null Het
Cyp2c40 C T 19: 39,755,819 (GRCm39) M498I probably benign Het
D630039A03Rik T A 4: 57,910,113 (GRCm39) Y233F probably damaging Het
Dock7 A T 4: 98,953,643 (GRCm39) M363K Het
Dscam A G 16: 96,420,768 (GRCm39) V1706A possibly damaging Het
En1 A G 1: 120,530,892 (GRCm39) D44G unknown Het
Enpp4 T A 17: 44,413,141 (GRCm39) N131I probably damaging Het
Ezh1 T C 11: 101,086,433 (GRCm39) D587G probably damaging Het
Gm21149 G T 5: 15,677,132 (GRCm39) H241N possibly damaging Het
Gna15 T C 10: 81,350,192 (GRCm39) Y70C probably damaging Het
Gucy1a1 T G 3: 82,009,353 (GRCm39) M552L probably damaging Het
Herc2 G A 7: 55,802,208 (GRCm39) V2017M probably damaging Het
Hsf4 C T 8: 105,999,373 (GRCm39) A297V probably benign Het
Ighd T A 12: 113,379,203 (GRCm39) T122S Het
Iqca1 C T 1: 90,065,937 (GRCm39) R218Q probably damaging Het
Isl2 C A 9: 55,452,227 (GRCm39) S266R probably benign Het
Itpkb A C 1: 180,160,028 (GRCm39) R51S probably benign Het
Jup A T 11: 100,274,219 (GRCm39) probably null Het
Kbtbd6 T C 14: 79,690,553 (GRCm39) V416A possibly damaging Het
Klhl22 T A 16: 17,602,068 (GRCm39) Y372N probably damaging Het
Klrc3 T C 6: 129,616,142 (GRCm39) E191G probably damaging Het
Lhx5 A G 5: 120,570,410 (GRCm39) D22G probably benign Het
Marchf9 GGGCGGCGGCGGCGGCG GGGCGGCGGCGGCG 10: 126,895,360 (GRCm39) probably benign Het
Mbtps1 A G 8: 120,248,602 (GRCm39) I707T probably benign Het
Nbeal1 T A 1: 60,331,047 (GRCm39) Y2219N probably damaging Het
Neb A G 2: 52,085,696 (GRCm39) I5513T probably damaging Het
Nkx1-1 C T 5: 33,591,131 (GRCm39) V64M unknown Het
Nme4 G T 17: 26,314,389 (GRCm39) A13E probably benign Het
Or2g25 T C 17: 37,971,047 (GRCm39) Y59C probably damaging Het
Or52e18 A G 7: 104,609,001 (GRCm39) *313R probably null Het
Or7e173 T C 9: 19,938,818 (GRCm39) M139V probably benign Het
Osbpl3 A T 6: 50,329,762 (GRCm39) probably null Het
Phc3 T A 3: 30,961,544 (GRCm39) M963L probably benign Het
Phf20 C T 2: 156,109,234 (GRCm39) P194S probably benign Het
Pou1f1 C T 16: 65,317,427 (GRCm39) probably benign Het
Pramel46 T A 5: 95,418,133 (GRCm39) M288L probably benign Het
Prdm13 C G 4: 21,679,659 (GRCm39) R277P unknown Het
Prelid1 A G 13: 55,470,010 (GRCm39) K3R possibly damaging Het
Psd C A 19: 46,309,233 (GRCm39) D575Y probably damaging Het
Ptger3 C A 3: 157,273,424 (GRCm39) T257K probably damaging Het
Pth1r T C 9: 110,556,204 (GRCm39) H223R probably benign Het
Ptk2b C T 14: 66,424,899 (GRCm39) E182K probably damaging Het
Ptprj T C 2: 90,294,916 (GRCm39) T431A possibly damaging Het
Rbbp5 T A 1: 132,417,464 (GRCm39) D119E probably benign Het
Rest GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC 5: 77,429,651 (GRCm39) probably benign Het
Rinl T G 7: 28,490,084 (GRCm39) L41R possibly damaging Het
Rrp12 A G 19: 41,865,603 (GRCm39) V730A probably benign Het
Saraf G T 8: 34,632,343 (GRCm39) V141L possibly damaging Het
Slc6a13 T C 6: 121,302,042 (GRCm39) L208P probably damaging Het
Slc9a9 C A 9: 94,595,000 (GRCm39) T170K probably damaging Het
Spata31f1e T C 4: 42,793,380 (GRCm39) T251A probably benign Het
Stk33 T C 7: 108,928,747 (GRCm39) N255S probably damaging Het
Tenm2 C T 11: 35,930,722 (GRCm39) V1769M probably damaging Het
Themis C A 10: 28,658,233 (GRCm39) T420N probably benign Het
Tmem116 T C 5: 121,605,975 (GRCm39) V109A Het
Tnfaip2 T A 12: 111,411,382 (GRCm39) L2Q probably damaging Het
Trub1 T C 19: 57,452,859 (GRCm39) probably null Het
Ttn C T 2: 76,679,260 (GRCm39) V10821I unknown Het
Ube2j1 C A 4: 33,045,111 (GRCm39) A197D probably benign Het
Vmn2r101 T A 17: 19,809,138 (GRCm39) I89N probably damaging Het
Wfikkn1 T C 17: 26,097,145 (GRCm39) Y393C probably damaging Het
Zfp729b C A 13: 67,741,942 (GRCm39) E108* probably null Het
Zfp976 A T 7: 42,263,011 (GRCm39) C276* probably null 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
R5185:Dffa UTSW 4 149,201,887 (GRCm39) missense probably benign 0.04
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
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'- GGGGTTAGCTTCCCTGTAAATC -3'
(R):5'- GAATTCCTATGCCAGGGCTG -3'

Sequencing Primer
(F):5'- TCCCTGAGAAAAGGTCTTGC -3'
(R):5'- AACCTATGGTTCTTGGCCAG -3'
Posted On 2022-02-07