Incidental Mutation 'IGL03250:Bnipl'
ID414540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bnipl
Ensembl Gene ENSMUSG00000028115
Gene NameBCL2/adenovirus E1B 19kD interacting protein like
SynonymsPP753, BNIPL1, 1700128A13Rik, BNIP-S, BNIPL2, BNIPL, BNIPL-2, BNIPL-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #IGL03250
Quality Score
Status
Chromosome3
Chromosomal Location95241271-95251193 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 95244139 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090815] [ENSMUST00000098871] [ENSMUST00000107195] [ENSMUST00000107197] [ENSMUST00000125515] [ENSMUST00000137250]
Predicted Effect probably benign
Transcript: ENSMUST00000090815
SMART Domains Protein: ENSMUSP00000088324
Gene: ENSMUSG00000068860

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:PMSI1 23 345 3.1e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098871
SMART Domains Protein: ENSMUSP00000096468
Gene: ENSMUSG00000028115

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
Pfam:BNIP2 48 178 4.5e-38 PFAM
Pfam:CRAL_TRIO_2 162 273 7.7e-16 PFAM
Pfam:CRAL_TRIO 196 263 3.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107195
SMART Domains Protein: ENSMUSP00000102813
Gene: ENSMUSG00000028115

DomainStartEndE-ValueType
low complexity region 33 44 N/A INTRINSIC
low complexity region 50 62 N/A INTRINSIC
low complexity region 104 117 N/A INTRINSIC
SEC14 193 348 7.89e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107197
SMART Domains Protein: ENSMUSP00000102815
Gene: ENSMUSG00000068860

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:PMSI1 23 130 1.8e-32 PFAM
Pfam:PMSI1 121 184 1.2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125515
SMART Domains Protein: ENSMUSP00000120545
Gene: ENSMUSG00000028115

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
Pfam:BNIP2 48 178 3.7e-38 PFAM
Pfam:CRAL_TRIO_2 168 259 7.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137250
SMART Domains Protein: ENSMUSP00000115197
Gene: ENSMUSG00000028115

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
low complexity region 22 34 N/A INTRINSIC
low complexity region 76 89 N/A INTRINSIC
SEC14 165 320 7.89e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176070
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik T C 3: 91,090,408 probably benign Het
Calb2 G T 8: 110,143,107 L265I probably benign Het
Cdhr4 C T 9: 107,996,659 R442C probably damaging Het
Cep192 T C 18: 67,807,355 V131A probably benign Het
Ctnnal1 G T 4: 56,812,356 N723K probably benign Het
Dclre1b T C 3: 103,804,064 probably null Het
Hdac4 A C 1: 91,934,600 probably null Het
Mms19 A T 19: 41,954,464 probably null Het
Myh7 A T 14: 54,992,247 M113K probably damaging Het
Pkdrej T C 15: 85,821,355 T127A possibly damaging Het
Plekhm3 A G 1: 64,938,047 V88A possibly damaging Het
Slc17a5 A G 9: 78,578,564 S80P probably damaging Het
Suclg1 A G 6: 73,270,992 N232S probably benign Het
Upk1a A T 7: 30,606,978 V121E possibly damaging Het
Vmn1r70 C T 7: 10,634,281 T232I probably damaging Het
Vmn2r4 G A 3: 64,406,642 T306I probably damaging Het
Wdfy4 A T 14: 32,977,167 M2524K probably damaging Het
Wdr6 A G 9: 108,573,197 V1044A possibly damaging Het
Zfp809 A G 9: 22,238,635 T143A possibly damaging Het
Other mutations in Bnipl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Bnipl APN 3 95242734 missense probably damaging 1.00
IGL02089:Bnipl APN 3 95250266 splice site probably benign
IGL02273:Bnipl APN 3 95245775 missense possibly damaging 0.58
R0524:Bnipl UTSW 3 95249829 missense probably benign 0.27
R1181:Bnipl UTSW 3 95245649 critical splice donor site probably null
R1926:Bnipl UTSW 3 95243043 missense probably damaging 1.00
R2072:Bnipl UTSW 3 95244211 missense probably damaging 1.00
R2126:Bnipl UTSW 3 95245683 missense probably damaging 1.00
R2196:Bnipl UTSW 3 95249870 missense possibly damaging 0.83
R2898:Bnipl UTSW 3 95243049 missense probably benign 0.44
R7781:Bnipl UTSW 3 95244175 missense probably damaging 1.00
R7885:Bnipl UTSW 3 95250240 missense probably benign
R7968:Bnipl UTSW 3 95250240 missense probably benign
Posted On2016-08-02