Incidental Mutation 'IGL00661:Bnip3'
ID 9284
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bnip3
Ensembl Gene ENSMUSG00000078566
Gene Name BCL2/adenovirus E1B interacting protein 3
Synonyms Nip3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # IGL00661
Quality Score
Status
Chromosome 7
Chromosomal Location 138492565-138511235 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 138499801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 62 (P62L)
Ref Sequence ENSEMBL: ENSMUSP00000148170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106112] [ENSMUST00000130500]
AlphaFold O55003
Predicted Effect probably benign
Transcript: ENSMUST00000106112
AA Change: P62L

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101718
Gene: ENSMUSG00000078566
AA Change: P62L

DomainStartEndE-ValueType
Pfam:BNIP3 1 186 7.9e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125359
Predicted Effect probably damaging
Transcript: ENSMUST00000130500
AA Change: P62L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210611
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 is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased post-ischemic ventricular remodeling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Bnip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01363:Bnip3 APN 7 138,499,777 (GRCm39) missense probably benign 0.00
IGL02410:Bnip3 APN 7 138,500,528 (GRCm39) missense probably damaging 1.00
IGL03097:Bnip3 UTSW 7 138,496,208 (GRCm39) missense probably damaging 0.97
R0012:Bnip3 UTSW 7 138,500,401 (GRCm39) splice site probably benign
R0012:Bnip3 UTSW 7 138,500,401 (GRCm39) splice site probably benign
R0282:Bnip3 UTSW 7 138,499,759 (GRCm39) missense probably damaging 0.97
R1929:Bnip3 UTSW 7 138,496,359 (GRCm39) synonymous silent
R3001:Bnip3 UTSW 7 138,496,430 (GRCm39) missense probably benign 0.37
R3002:Bnip3 UTSW 7 138,496,430 (GRCm39) missense probably benign 0.37
R4727:Bnip3 UTSW 7 138,500,435 (GRCm39) missense probably damaging 1.00
R5029:Bnip3 UTSW 7 138,499,848 (GRCm39) intron probably benign
R5088:Bnip3 UTSW 7 138,496,337 (GRCm39) critical splice donor site probably null
R6046:Bnip3 UTSW 7 138,511,033 (GRCm39) intron probably benign
R8035:Bnip3 UTSW 7 138,493,666 (GRCm39) missense probably damaging 1.00
R9682:Bnip3 UTSW 7 138,496,445 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06