Incidental Mutation 'IGL03097:Bnip3'
ID 453216
Institutional Source Beutler Lab
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 # IGL03097 (G1)
Quality Score 164
Status Validated
Chromosome 7
Chromosomal Location 138492565-138511235 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 138496208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 140 (N140S)
Ref Sequence ENSEMBL: ENSMUSP00000148170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106112] [ENSMUST00000130500]
AlphaFold O55003
Predicted Effect probably damaging
Transcript: ENSMUST00000106112
AA Change: N140S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101718
Gene: ENSMUSG00000078566
AA Change: N140S

DomainStartEndE-ValueType
Pfam:BNIP3 1 186 7.9e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125359
Predicted Effect probably damaging
Transcript: ENSMUST00000130500
AA Change: N140S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210611
Meta Mutation Damage Score 0.2517 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 90% (46/51)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Adcy9 T C 16: 4,235,930 (GRCm39) T257A possibly damaging Het
Ahnak A G 19: 8,979,751 (GRCm39) D345G probably benign Het
Ak5 A G 3: 152,366,151 (GRCm39) probably null Het
Akap3 A G 6: 126,843,379 (GRCm39) K666R probably damaging Het
Alpk3 A G 7: 80,743,657 (GRCm39) N1158S probably benign Het
Atp23 A T 10: 126,723,556 (GRCm39) V182E probably damaging Het
Atp4a A G 7: 30,422,462 (GRCm39) D898G probably benign Het
Bptf T C 11: 106,968,506 (GRCm39) Y1059C probably damaging Het
Cacna1h A T 17: 25,610,118 (GRCm39) I796N probably damaging Het
Ccnb2 A G 9: 70,316,678 (GRCm39) probably benign Het
Cd3g T A 9: 44,882,061 (GRCm39) D165V probably damaging Het
Cfap70 T C 14: 20,498,676 (GRCm39) T4A probably benign Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Cntn4 C T 6: 106,330,673 (GRCm39) T97M probably benign Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Crim1 C T 17: 78,675,227 (GRCm39) T812I probably benign Het
Csmd1 G T 8: 15,995,127 (GRCm39) T2636K probably damaging Het
Cyp39a1 T A 17: 43,993,941 (GRCm39) Y200* probably null Het
Dlg4 T G 11: 69,933,028 (GRCm39) I478S probably damaging Het
Dsc3 A T 18: 20,107,105 (GRCm39) N505K probably benign Het
Efhc1 T C 1: 21,043,049 (GRCm39) W323R probably damaging Het
Ehhadh T A 16: 21,581,520 (GRCm39) I491L probably benign Het
Ggt6 T G 11: 72,327,639 (GRCm39) H148Q possibly damaging Het
Gstm3 T C 3: 107,876,117 (GRCm39) D25G probably benign Het
Gtf2h3 G A 5: 124,740,231 (GRCm39) probably benign Het
Hjurp TGGG TTGCGGG 1: 88,194,002 (GRCm39) probably benign Het
Hnf4g A C 3: 3,716,674 (GRCm39) E281A probably damaging Het
Impg1 T G 9: 80,287,234 (GRCm39) E404A possibly damaging Het
Kcna2 T C 3: 107,012,715 (GRCm39) V432A probably benign Het
Map3k2 T G 18: 32,333,070 (GRCm39) D81E probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mmp9 T A 2: 164,792,726 (GRCm39) probably null Het
Mroh2a G A 1: 88,163,098 (GRCm39) R376H probably benign Het
Ms4a1 G T 19: 11,230,556 (GRCm39) T215N probably benign Het
Pam16 T C 16: 4,434,458 (GRCm39) I111V probably benign Het
Pde6c A G 19: 38,166,719 (GRCm39) T720A probably damaging Het
Pgap2 T C 7: 101,885,434 (GRCm39) L100P probably damaging Het
Ppl T A 16: 4,914,590 (GRCm39) S686C probably damaging Het
Rnls A G 19: 33,115,679 (GRCm39) probably benign Het
Robo3 A C 9: 37,333,824 (GRCm39) probably null Het
Rptn G A 3: 93,304,680 (GRCm39) G671D probably damaging Het
Slc6a21 C T 7: 44,937,592 (GRCm39) Q628* probably null Het
Smg6 T G 11: 74,823,252 (GRCm39) I708S probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Thap1 C G 8: 26,652,498 (GRCm39) P79A probably benign Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I 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
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
Predicted Primers PCR Primer
(F):5'- GTTTGTGAAAATGCACCGGCC -3'
(R):5'- TATGGGATTGGTCAAGTCGAC -3'

Sequencing Primer
(F):5'- TGTAGAAATAACTTGCTGGGGCC -3'
(R):5'- GTCAAGTCGACCAGAAAATATTCC -3'
Posted On 2017-01-31