Incidental Mutation 'R0069:Diablo'
ID17107
Institutional Source Beutler Lab
Gene Symbol Diablo
Ensembl Gene ENSMUSG00000029433
Gene Namediablo, IAP-binding mitochondrial protein
Synonyms1700006L01Rik, 0610041G12Rik, Smac
MMRRC Submission 038360-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0069 (G1)
Quality Score
Status Validated
Chromosome5
Chromosomal Location123509765-123524176 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 123518024 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 117 (S117R)
Ref Sequence ENSEMBL: ENSMUSP00000031385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031385] [ENSMUST00000111586] [ENSMUST00000111587] [ENSMUST00000125652] [ENSMUST00000139398] [ENSMUST00000145152] [ENSMUST00000197682] [ENSMUST00000200247]
Predicted Effect probably damaging
Transcript: ENSMUST00000031385
AA Change: S117R

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031385
Gene: ENSMUSG00000029433
AA Change: S117R

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 6 174 6e-86 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111586
AA Change: S117R

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107213
Gene: ENSMUSG00000029433
AA Change: S117R

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 6 174 7.6e-85 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111587
AA Change: S117R

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107214
Gene: ENSMUSG00000029433
AA Change: S117R

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 9 237 4.1e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125047
Predicted Effect possibly damaging
Transcript: ENSMUST00000125652
AA Change: S117R

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115045
Gene: ENSMUSG00000029433
AA Change: S117R

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 6 237 1.1e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134552
Predicted Effect possibly damaging
Transcript: ENSMUST00000139398
AA Change: S117R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143485
Gene: ENSMUSG00000029433
AA Change: S117R

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 6 150 7.1e-68 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000145152
AA Change: S117R

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143617
Gene: ENSMUSG00000029433
AA Change: S117R

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 9 150 3.4e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183364
Predicted Effect probably benign
Transcript: ENSMUST00000197682
Predicted Effect probably damaging
Transcript: ENSMUST00000200247
AA Change: S68R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143673
Gene: ENSMUSG00000029433
AA Change: S68R

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 1 109 4.4e-57 PFAM
Meta Mutation Damage Score 0.1244 question?
Coding Region Coverage
  • 1x: 86.4%
  • 3x: 80.4%
  • 10x: 57.4%
  • 20x: 26.1%
Validation Efficiency 94% (60/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes are viable and fertile with no gross morphological or histological abnormalities. Normal induction of apoptosis in UV-irradiated or Fas-antibody treated cells was noted, and these mice also exhibit normal T and B cell proliferative responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,561,562 C632S probably damaging Het
Ccnb1ip1 G A 14: 81,519,382 Q322* probably null Het
Cd101 A G 3: 101,008,217 V678A probably benign Het
Creb1 A G 1: 64,576,208 I240V possibly damaging Het
Dctn2 A T 10: 127,277,485 probably null Het
Ebf2 A T 14: 67,410,050 R349S probably damaging Het
Gne A C 4: 44,060,099 V98G probably damaging Het
Ints3 A G 3: 90,400,647 probably benign Het
Itgal A G 7: 127,310,331 T56A probably benign Het
Lzts3 T A 2: 130,636,540 T213S probably benign Het
Myo1d A G 11: 80,637,953 I681T probably damaging Het
Pde8a T C 7: 81,319,123 probably benign Het
Pole2 A T 12: 69,209,887 V288E probably damaging Het
Poteg T C 8: 27,447,821 S2P probably benign Het
Ppp2r5c A T 12: 110,567,770 M356L probably benign Het
Rad54l2 C A 9: 106,710,365 V734L possibly damaging Het
Ryr1 A C 7: 29,110,505 probably benign Het
Slfn10-ps A G 11: 83,035,542 noncoding transcript Het
Sult1e1 A T 5: 87,579,897 H175Q probably damaging Het
Tcrg-V7 A G 13: 19,178,422 R94G probably benign Het
Ube2e3 C A 2: 78,919,949 probably benign Het
Vps13d A G 4: 145,062,563 I746T probably benign Het
Xpnpep3 T C 15: 81,430,798 V233A probably benign Het
Zfp329 A T 7: 12,810,932 S222T probably damaging Het
Zswim6 T C 13: 107,738,563 noncoding transcript Het
Other mutations in Diablo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Diablo APN 5 123512688 missense probably benign 0.01
R0069:Diablo UTSW 5 123518024 missense probably damaging 0.96
R2141:Diablo UTSW 5 123523361 missense probably benign 0.01
Posted On2013-01-20