Incidental Mutation 'IGL00826:Diablo'
ID 10162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Diablo
Ensembl Gene ENSMUSG00000029433
Gene Name diablo, IAP-binding mitochondrial protein
Synonyms 0610041G12Rik, 1700006L01Rik, Smac
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00826
Quality Score
Status
Chromosome 5
Chromosomal Location 123647828-123662239 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123650751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 179 (I179M)
Ref Sequence ENSEMBL: ENSMUSP00000115045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031384] [ENSMUST00000031385] [ENSMUST00000094327] [ENSMUST00000111586] [ENSMUST00000111587] [ENSMUST00000121444] [ENSMUST00000125652] [ENSMUST00000139398] [ENSMUST00000197682] [ENSMUST00000200247] [ENSMUST00000145152] [ENSMUST00000196809]
AlphaFold Q9JIQ3
Predicted Effect probably benign
Transcript: ENSMUST00000031384
SMART Domains Protein: ENSMUSP00000031384
Gene: ENSMUSG00000029431

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Galactosyl_T 106 297 1.3e-43 PFAM
Pfam:Fringe 169 302 2.8e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031385
SMART Domains Protein: ENSMUSP00000031385
Gene: ENSMUSG00000029433

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 6 174 6e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094327
SMART Domains Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 3e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 537 565 N/A INTRINSIC
low complexity region 614 629 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111586
SMART Domains Protein: ENSMUSP00000107213
Gene: ENSMUSG00000029433

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 6 174 7.6e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111587
AA Change: I179M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107214
Gene: ENSMUSG00000029433
AA Change: I179M

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 9 237 4.1e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121444
SMART Domains Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 4e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 530 558 N/A INTRINSIC
low complexity region 607 622 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125652
AA Change: I179M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000115045
Gene: ENSMUSG00000029433
AA Change: I179M

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 6 237 1.1e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134552
Predicted Effect probably benign
Transcript: ENSMUST00000139398
SMART Domains Protein: ENSMUSP00000143485
Gene: ENSMUSG00000029433

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 6 150 7.1e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197682
Predicted Effect probably benign
Transcript: ENSMUST00000200247
SMART Domains Protein: ENSMUSP00000143673
Gene: ENSMUSG00000029433

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 1 109 4.4e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145152
SMART Domains Protein: ENSMUSP00000143617
Gene: ENSMUSG00000029433

DomainStartEndE-ValueType
Pfam:Smac_DIABLO 9 150 3.4e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196809
SMART Domains Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409

DomainStartEndE-ValueType
low complexity region 63 80 N/A INTRINSIC
SCOP:d1a9na_ 117 262 2e-16 SMART
low complexity region 389 402 N/A INTRINSIC
low complexity region 537 565 N/A INTRINSIC
low complexity region 635 652 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T G 8: 111,766,932 (GRCm39) S105A probably damaging Het
Adamtsl1 C T 4: 86,075,041 (GRCm39) P136L probably damaging Het
Akap13 C A 7: 75,327,195 (GRCm39) N376K probably damaging Het
Casp2 T A 6: 42,246,219 (GRCm39) Y192* probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cyp2c68 A G 19: 39,727,949 (GRCm39) Y68H possibly damaging Het
Cyp2j9 A T 4: 96,474,167 (GRCm39) I91K possibly damaging Het
Dnah9 C T 11: 65,880,768 (GRCm39) V2610M probably damaging Het
Dsc2 C T 18: 20,168,372 (GRCm39) A696T probably damaging Het
Eaf2 A T 16: 36,621,038 (GRCm39) M218K probably benign Het
Emc9 G T 14: 55,822,377 (GRCm39) L64I possibly damaging Het
Epb41l2 T C 10: 25,317,620 (GRCm39) S46P probably benign Het
Galnt7 A T 8: 57,993,105 (GRCm39) Y405* probably null Het
Gnl3 A G 14: 30,734,753 (GRCm39) probably benign Het
Map1a A G 2: 121,132,757 (GRCm39) Q1191R possibly damaging Het
Map2k2 G A 10: 80,954,052 (GRCm39) V173I probably benign Het
Nbeal2 A G 9: 110,455,971 (GRCm39) V2408A probably benign Het
Npepps T C 11: 97,126,884 (GRCm39) probably benign Het
Osbpl8 A T 10: 111,108,181 (GRCm39) probably benign Het
Phf12 G T 11: 77,906,332 (GRCm39) R282L probably damaging Het
Phf21a T G 2: 92,174,881 (GRCm39) probably benign Het
Plin2 T C 4: 86,582,683 (GRCm39) N98D possibly damaging Het
Prl7a1 A G 13: 27,824,778 (GRCm39) V19A probably damaging Het
Slfn10-ps T C 11: 82,926,085 (GRCm39) noncoding transcript Het
Spag11b T G 8: 19,191,423 (GRCm39) V33G possibly damaging Het
Trappc13 A T 13: 104,281,016 (GRCm39) S349T probably benign Het
Trim34a T C 7: 103,910,140 (GRCm39) probably null Het
Other mutations in Diablo
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0069:Diablo UTSW 5 123,656,087 (GRCm39) missense probably damaging 0.96
R0069:Diablo UTSW 5 123,656,087 (GRCm39) missense probably damaging 0.96
R2141:Diablo UTSW 5 123,661,424 (GRCm39) missense probably benign 0.01
R8447:Diablo UTSW 5 123,655,829 (GRCm39) missense probably damaging 1.00
R8777:Diablo UTSW 5 123,655,990 (GRCm39) missense unknown
R8777-TAIL:Diablo UTSW 5 123,655,990 (GRCm39) missense unknown
R9567:Diablo UTSW 5 123,662,196 (GRCm39) unclassified probably benign
R9779:Diablo UTSW 5 123,662,132 (GRCm39) critical splice donor site probably null
Posted On 2012-12-06