Incidental Mutation 'R6522:Bnip1'
ID 521428
Institutional Source Beutler Lab
Gene Symbol Bnip1
Ensembl Gene ENSMUSG00000024191
Gene Name BCL2/adenovirus E1B interacting protein 1
Synonyms 2010005M06Rik, 5930429G21Rik
MMRRC Submission 044648-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6522 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 27000040-27011539 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27008719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 107 (D107G)
Ref Sequence ENSEMBL: ENSMUSP00000015725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015725] [ENSMUST00000126505] [ENSMUST00000135824]
AlphaFold Q6QD59
Predicted Effect probably damaging
Transcript: ENSMUST00000015725
AA Change: D107G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000015725
Gene: ENSMUSG00000024191
AA Change: D107G

DomainStartEndE-ValueType
coiled coil region 37 89 N/A INTRINSIC
Pfam:Sec20 133 224 2.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131362
Predicted Effect unknown
Transcript: ENSMUST00000134344
AA Change: D97G
SMART Domains Protein: ENSMUSP00000122734
Gene: ENSMUSG00000024191
AA Change: D97G

DomainStartEndE-ValueType
coiled coil region 27 79 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135824
SMART Domains Protein: ENSMUSP00000118933
Gene: ENSMUSG00000024191

DomainStartEndE-ValueType
coiled coil region 37 90 N/A INTRINSIC
Pfam:Sec20 99 190 1.4e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135899
Predicted Effect silent
Transcript: ENSMUST00000137989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147516
Meta Mutation Damage Score 0.3546 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb C A 10: 10,253,636 (GRCm39) E1209* probably null Het
Adgrg5 G T 8: 95,668,696 (GRCm39) R503L probably benign Het
Anks1b C T 10: 90,733,189 (GRCm39) probably benign Het
Anxa5 A T 3: 36,519,451 (GRCm39) F13I probably damaging Het
Bicd1 A G 6: 149,385,503 (GRCm39) I79V probably benign Het
Ccdc42 A G 11: 68,479,046 (GRCm39) E78G probably damaging Het
Ccnk A G 12: 108,153,446 (GRCm39) D69G probably damaging Het
Clec2i G T 6: 128,870,692 (GRCm39) V77F probably damaging Het
Clec4g A C 8: 3,768,803 (GRCm39) V62G probably benign Het
Col4a4 G A 1: 82,465,304 (GRCm39) A957V unknown Het
Csnk1d A G 11: 120,862,449 (GRCm39) F277L probably damaging Het
Dip2c G A 13: 9,625,264 (GRCm39) probably null Het
Dpf2 T A 19: 5,955,560 (GRCm39) K108* probably null Het
Dync1h1 G A 12: 110,583,171 (GRCm39) D423N probably damaging Het
Fbxl13 T C 5: 21,766,554 (GRCm39) probably null Homo
Flad1 T C 3: 89,310,490 (GRCm39) R488G probably damaging Het
Galnt6 A C 15: 100,591,236 (GRCm39) *623E probably null Het
Gtf2e1 T C 16: 37,331,816 (GRCm39) T420A possibly damaging Het
Hspg2 T C 4: 137,282,586 (GRCm39) V3442A probably damaging Het
Itpr1 A G 6: 108,365,237 (GRCm39) D55G probably damaging Het
Kdm2a C A 19: 4,374,854 (GRCm39) R759L possibly damaging Het
Kif19a A G 11: 114,676,605 (GRCm39) E478G probably damaging Het
Lamb3 G A 1: 193,017,761 (GRCm39) V881I probably benign Het
Map3k6 T C 4: 132,977,335 (GRCm39) L894P possibly damaging Het
Mast4 A G 13: 102,897,801 (GRCm39) probably null Het
Mst1r G A 9: 107,790,438 (GRCm39) V684M probably benign Het
Naa15 T C 3: 51,378,935 (GRCm39) S727P probably damaging Het
Nap1l1 T C 10: 111,330,084 (GRCm39) L330S probably damaging Het
Nav2 A G 7: 49,247,281 (GRCm39) T2205A probably damaging Het
Ncf2 T C 1: 152,703,214 (GRCm39) probably null Het
Opa1 T A 16: 29,444,332 (GRCm39) N839K probably benign Het
Or4c104 T C 2: 88,586,452 (GRCm39) D189G probably damaging Het
Or52a33 T C 7: 103,288,504 (GRCm39) Y281C probably damaging Het
Or52n4b G A 7: 108,144,202 (GRCm39) V155I probably benign Het
Pcdha7 T C 18: 37,106,995 (GRCm39) Y7H possibly damaging Het
Pcdhb15 T C 18: 37,607,314 (GRCm39) V182A probably benign Het
Phf10 A T 17: 15,176,269 (GRCm39) I128N probably damaging Het
Plce1 T A 19: 38,736,965 (GRCm39) probably null Het
Plxnb2 T C 15: 89,048,629 (GRCm39) N626S probably benign Het
Prh1 G A 6: 132,548,996 (GRCm39) G168R unknown Het
Prss51 A G 14: 64,334,855 (GRCm39) T137A possibly damaging Het
Ptprcap C T 19: 4,206,183 (GRCm39) R89C possibly damaging Het
Scfd1 A G 12: 51,478,324 (GRCm39) K512R probably benign Het
Serpina1b A C 12: 103,701,296 (GRCm39) probably null Het
Setbp1 T C 18: 78,900,605 (GRCm39) T1021A probably damaging Het
Slco1b2 G A 6: 141,601,145 (GRCm39) probably null Het
Snrnp200 C T 2: 127,063,747 (GRCm39) T642I probably benign Het
Tenm4 A C 7: 96,492,251 (GRCm39) I1063L possibly damaging Het
Tfb2m G A 1: 179,373,611 (GRCm39) A29V probably benign Het
Tfeb T C 17: 48,100,627 (GRCm39) V140A probably damaging Het
Tmem104 A T 11: 115,134,579 (GRCm39) I372F probably damaging Het
Tmem132d G T 5: 127,860,832 (GRCm39) H1096Q probably benign Het
Trim12c A T 7: 103,997,531 (GRCm39) N8K probably benign Het
Tti2 A G 8: 31,643,631 (GRCm39) I249V probably null Het
Vps8 T A 16: 21,261,129 (GRCm39) L90I probably damaging Het
Vwf A T 6: 125,639,926 (GRCm39) probably null Het
Wdfy4 A G 14: 32,868,901 (GRCm39) S376P probably damaging Het
Other mutations in Bnip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0830:Bnip1 UTSW 17 27,008,679 (GRCm39) missense probably benign
R4918:Bnip1 UTSW 17 27,002,525 (GRCm39) splice site probably benign
R5340:Bnip1 UTSW 17 27,005,764 (GRCm39) critical splice donor site probably null
R6329:Bnip1 UTSW 17 27,005,684 (GRCm39) nonsense probably null
R8678:Bnip1 UTSW 17 27,008,923 (GRCm39) intron probably benign
R9009:Bnip1 UTSW 17 27,001,590 (GRCm39) intron probably benign
X0063:Bnip1 UTSW 17 27,005,758 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GGAGAGATGTTAGGACCTGTGC -3'
(R):5'- ACCCCAAACCAAGTTTATTCAAATT -3'

Sequencing Primer
(F):5'- GGACCTGTGCTAAAGTAGTTACC -3'
(R):5'- CCTGTAAAGTCACAGCACGTTTGAG -3'
Posted On 2018-06-06