Incidental Mutation 'R0012:Bnip3'
ID 19117
Institutional Source Beutler Lab
Gene Symbol Bnip3
Ensembl Gene ENSMUSG00000078566
Gene Name BCL2/adenovirus E1B interacting protein 3
Synonyms Nip3
MMRRC Submission 038307-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.542) question?
Stock # R0012 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 138492565-138511235 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 138500401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106112] [ENSMUST00000130500]
AlphaFold O55003
Predicted Effect probably benign
Transcript: ENSMUST00000106112
SMART Domains Protein: ENSMUSP00000101718
Gene: ENSMUSG00000078566

DomainStartEndE-ValueType
Pfam:BNIP3 1 186 7.9e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125359
Predicted Effect probably benign
Transcript: ENSMUST00000130500
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
  • 1x: 78.7%
  • 3x: 69.0%
  • 10x: 44.7%
  • 20x: 26.0%
Validation Efficiency 91% (95/104)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 A G 5: 139,293,489 (GRCm39) probably benign Het
Brwd1 A C 16: 95,860,852 (GRCm39) S311R probably damaging Het
C2cd3 G A 7: 100,067,729 (GRCm39) V871M possibly damaging Het
Chd2 G T 7: 73,105,267 (GRCm39) T192K probably damaging Het
Chrna10 T C 7: 101,764,264 (GRCm39) N40S possibly damaging Het
Copb1 T A 7: 113,836,643 (GRCm39) K366N probably damaging Het
Dpysl4 T G 7: 138,677,799 (GRCm39) I412S probably benign Het
Fat2 A G 11: 55,153,697 (GRCm39) V3505A probably benign Het
Fbxo24 A G 5: 137,620,256 (GRCm39) F101S probably damaging Het
Gcnt3 T C 9: 69,941,367 (GRCm39) I400M probably benign Het
Gm2962 T A 1: 170,752,908 (GRCm39) probably benign Het
Gsap T A 5: 21,431,227 (GRCm39) probably benign Het
Hipk1 A G 3: 103,670,996 (GRCm39) M467T probably damaging Het
Hmgb4 T A 4: 128,154,518 (GRCm39) I17F probably damaging Het
Ints15 A G 5: 143,299,937 (GRCm39) L137P probably damaging Het
Kif17 T G 4: 138,021,059 (GRCm39) S606A probably damaging Het
Lypd4 A G 7: 24,564,757 (GRCm39) L127P probably damaging Het
Lyst A G 13: 13,862,279 (GRCm39) H2605R probably benign Het
Map3k4 A G 17: 12,457,076 (GRCm39) S1289P probably damaging Het
Mob1b G A 5: 88,903,943 (GRCm39) probably benign Het
Mthfd2l A T 5: 91,109,242 (GRCm39) H224L probably damaging Het
Nectin2 T C 7: 19,464,669 (GRCm39) probably benign Het
Rae1 T A 2: 172,844,466 (GRCm39) F4I unknown Het
Ralgapa2 A G 2: 146,254,672 (GRCm39) Y821H probably benign Het
Sharpin G T 15: 76,232,543 (GRCm39) P156T possibly damaging Het
Slc38a4 C T 15: 96,897,510 (GRCm39) R435H probably damaging Het
Snrnp200 T C 2: 127,070,469 (GRCm39) V1061A probably benign Het
Suclg1 A G 6: 73,247,980 (GRCm39) T234A possibly damaging Het
Tet2 T C 3: 133,182,319 (GRCm39) Y1215C probably damaging Het
Tjp1 A G 7: 64,979,523 (GRCm39) probably benign Het
Tnpo3 T C 6: 29,589,176 (GRCm39) E58G probably damaging Het
Trp53bp2 T A 1: 182,272,283 (GRCm39) M464K probably damaging Het
Trpm1 A G 7: 63,918,339 (GRCm39) S560G possibly damaging Het
Unc80 T C 1: 66,546,550 (GRCm39) S541P probably damaging Het
Ushbp1 T C 8: 71,847,684 (GRCm39) probably benign Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A probably benign Het
Other mutations in Bnip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Bnip3 APN 7 138,499,801 (GRCm39) missense probably damaging 1.00
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
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 2013-03-25