Incidental Mutation 'IGL01976:Bnip2'
ID182687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bnip2
Ensembl Gene ENSMUSG00000011958
Gene NameBCL2/adenovirus E1B interacting protein 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01976
Quality Score
Status
Chromosome9
Chromosomal Location69989466-70008317 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 70000834 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034754] [ENSMUST00000085393] [ENSMUST00000117450] [ENSMUST00000154772] [ENSMUST00000165389]
Predicted Effect probably benign
Transcript: ENSMUST00000034754
SMART Domains Protein: ENSMUSP00000034754
Gene: ENSMUSG00000011958

DomainStartEndE-ValueType
SEC14 150 301 3.23e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085393
SMART Domains Protein: ENSMUSP00000082513
Gene: ENSMUSG00000011958

DomainStartEndE-ValueType
SEC14 150 301 5.62e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117450
SMART Domains Protein: ENSMUSP00000113466
Gene: ENSMUSG00000011958

DomainStartEndE-ValueType
SEC14 150 301 1.19e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133307
Predicted Effect probably benign
Transcript: ENSMUST00000137472
SMART Domains Protein: ENSMUSP00000115106
Gene: ENSMUSG00000011958

DomainStartEndE-ValueType
Pfam:CRAL_TRIO_2 1 67 4.1e-17 PFAM
Pfam:CRAL_TRIO 2 58 4.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143049
Predicted Effect probably benign
Transcript: ENSMUST00000154772
Predicted Effect probably benign
Transcript: ENSMUST00000165389
SMART Domains Protein: ENSMUSP00000133200
Gene: ENSMUSG00000011958

DomainStartEndE-ValueType
SEC14 150 301 5.62e-18 SMART
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 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. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T C 6: 85,622,665 V1960A possibly damaging Het
Asph A T 4: 9,475,471 N537K probably damaging Het
Cc2d2a C A 5: 43,683,115 Q104K probably benign Het
Cd300ld A G 11: 114,987,444 S81P probably damaging Het
Clec4a1 T C 6: 122,928,074 probably benign Het
Dnajb8 T C 6: 88,222,526 S15P probably damaging Het
Erp27 C A 6: 136,919,989 V72L probably damaging Het
Gm13103 A G 4: 143,852,793 N316S probably benign Het
Gpr156 A G 16: 37,979,033 T131A probably damaging Het
Grk1 T C 8: 13,415,993 V479A probably damaging Het
Hist1h2ba T A 13: 23,933,999 D53V possibly damaging Het
Hspg2 A G 4: 137,561,926 D3784G probably damaging Het
Irf2 A T 8: 46,807,225 K26M probably damaging Het
Irx6 C A 8: 92,676,089 C27* probably null Het
Izumo1r C T 9: 14,901,679 C99Y probably damaging Het
Klrb1a T A 6: 128,618,109 T132S probably benign Het
Mmp13 C T 9: 7,278,974 probably benign Het
Myo5b G A 18: 74,698,277 R766Q probably damaging Het
Myt1 T C 2: 181,795,739 L81P probably damaging Het
Nfat5 G A 8: 107,367,559 V793I probably damaging Het
Nup210 A G 6: 91,053,614 V108A possibly damaging Het
Olfr32 A G 2: 90,138,924 S72P probably damaging Het
Omd T A 13: 49,589,643 Y56* probably null Het
Psmd9 A G 5: 123,234,634 E60G probably damaging Het
Rab11fip1 T C 8: 27,152,797 E658G possibly damaging Het
Smchd1 T A 17: 71,394,725 K1091* probably null Het
Supt16 A T 14: 52,182,307 N111K possibly damaging Het
Trrap A G 5: 144,856,989 T3666A probably benign Het
Ttn T C 2: 76,785,751 D8289G probably damaging Het
Ush2a T A 1: 188,911,241 S4267T probably benign Het
Usp50 T A 2: 126,709,466 E31V probably benign Het
Other mutations in Bnip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01767:Bnip2 APN 9 70002116 splice site probably benign
IGL03226:Bnip2 APN 9 69996174 missense probably benign 0.00
schmalhans UTSW 9 70002111 missense probably null 1.00
R0243:Bnip2 UTSW 9 69995505 missense probably damaging 1.00
R0637:Bnip2 UTSW 9 70003673 splice site probably null
R3686:Bnip2 UTSW 9 69999150 missense probably damaging 1.00
R3687:Bnip2 UTSW 9 69999150 missense probably damaging 1.00
R4577:Bnip2 UTSW 9 69997162 missense probably benign 0.00
R4974:Bnip2 UTSW 9 70003434 missense possibly damaging 0.91
R5924:Bnip2 UTSW 9 69997162 missense probably benign 0.00
R5957:Bnip2 UTSW 9 69999238 missense probably damaging 1.00
R6629:Bnip2 UTSW 9 70002111 missense probably null 1.00
R6716:Bnip2 UTSW 9 70003661 missense probably damaging 1.00
R7496:Bnip2 UTSW 9 70003404 missense probably damaging 0.96
R8415:Bnip2 UTSW 9 70003685 missense possibly damaging 0.53
Posted On2014-05-07