Incidental Mutation 'R5340:Bnip1'
ID 422297
Institutional Source Beutler Lab
Gene Symbol Bnip1
Ensembl Gene ENSMUSG00000024191
Gene Name BCL2/adenovirus E1B interacting protein 1
Synonyms 2010005M06Rik, 5930429G21Rik
MMRRC Submission 042919-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5340 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 27000040-27011539 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 27005764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015725] [ENSMUST00000126505] [ENSMUST00000135824] [ENSMUST00000135824]
AlphaFold Q6QD59
Predicted Effect probably null
Transcript: ENSMUST00000015725
SMART Domains Protein: ENSMUSP00000015725
Gene: ENSMUSG00000024191

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 probably benign
Transcript: ENSMUST00000134344
SMART Domains Protein: ENSMUSP00000122734
Gene: ENSMUSG00000024191

DomainStartEndE-ValueType
coiled coil region 27 79 N/A INTRINSIC
Predicted Effect probably null
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 probably null
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 noncoding transcript
Transcript: ENSMUST00000147516
Predicted Effect probably benign
Transcript: ENSMUST00000137989
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
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. 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp7 T C 4: 41,034,347 (GRCm39) R271G probably benign Het
Atp4a A G 7: 30,420,231 (GRCm39) I793V probably benign Het
Baz2a C T 10: 127,950,911 (GRCm39) R535C probably damaging Het
BC034090 T C 1: 155,102,160 (GRCm39) T35A possibly damaging Het
Ccdc136 A G 6: 29,411,859 (GRCm39) S369G possibly damaging Het
Csrnp3 A G 2: 65,852,781 (GRCm39) D391G probably benign Het
Ctbp2 G T 7: 132,615,692 (GRCm39) H414Q probably benign Het
Dnah6 A G 6: 73,189,603 (GRCm39) I15T probably benign Het
Dync2li1 A G 17: 84,957,130 (GRCm39) probably null Het
Eri3 A T 4: 117,530,991 (GRCm39) I329F probably damaging Het
Flii T A 11: 60,608,094 (GRCm39) I786F probably damaging Het
Fmo1 A T 1: 162,657,551 (GRCm39) I530N probably benign Het
Gm28042 T C 2: 119,871,929 (GRCm39) S960P probably benign Het
Gzmm C A 10: 79,530,907 (GRCm39) F236L probably benign Het
H2bl1 C T 13: 99,120,951 (GRCm39) R25H possibly damaging Het
Igkv4-55 A G 6: 69,584,489 (GRCm39) V41A probably damaging Het
Ipo9 A G 1: 135,313,170 (GRCm39) Y1020H probably benign Het
Masp1 T C 16: 23,276,858 (GRCm39) Y549C probably damaging Het
Mblac1 A T 5: 138,192,840 (GRCm39) S61C probably damaging Het
Mical1 T A 10: 41,359,427 (GRCm39) probably null Het
Mroh9 C T 1: 162,908,156 (GRCm39) probably benign Het
Mta2 T C 19: 8,919,720 (GRCm39) M1T probably null Het
Neb A G 2: 52,113,060 (GRCm39) Y4245H probably damaging Het
Or11j4 T C 14: 50,630,677 (GRCm39) F155L probably damaging Het
Or4c52 T C 2: 89,845,706 (GRCm39) V144A probably benign Het
Otulinl T C 15: 27,658,175 (GRCm39) M282V possibly damaging Het
Pak2 G T 16: 31,853,764 (GRCm39) probably null Het
Phc3 A T 3: 30,961,616 (GRCm39) F939I probably damaging Het
Prss3l T C 6: 41,422,307 (GRCm39) N33D probably benign Het
Rogdi C A 16: 4,831,225 (GRCm39) R14L probably benign Het
Ryr3 T C 2: 112,664,470 (GRCm39) Y1627C probably damaging Het
Scrn3 A T 2: 73,166,154 (GRCm39) K396* probably null Het
Sh3pxd2a T C 19: 47,256,670 (GRCm39) N683D probably benign Het
Smtnl1 T A 2: 84,645,785 (GRCm39) H362L probably damaging Het
Sned1 A G 1: 93,210,479 (GRCm39) S927G probably benign Het
Tcaf1 A G 6: 42,655,923 (GRCm39) V351A probably damaging Het
Tmem232 C T 17: 65,709,993 (GRCm39) V432M possibly damaging Het
Ttll11 G T 2: 35,792,801 (GRCm39) H347Q probably damaging Het
Vmn2r56 A C 7: 12,449,799 (GRCm39) D146E probably damaging Het
Wwp1 A G 4: 19,638,773 (GRCm39) probably null Het
Zcchc7 T A 4: 44,762,245 (GRCm39) N124K probably benign Het
Zfp667 A G 7: 6,308,252 (GRCm39) T307A possibly damaging Het
Zfp709 T A 8: 72,643,596 (GRCm39) C342S probably damaging Het
Zfp940 A G 7: 29,544,266 (GRCm39) V547A probably benign 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
R6329:Bnip1 UTSW 17 27,005,684 (GRCm39) nonsense probably null
R6522:Bnip1 UTSW 17 27,008,719 (GRCm39) missense probably damaging 0.96
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'- GTCTGTTGTAAAGGACGCTTCAG -3'
(R):5'- TATGCAGACAACATGAGCACTG -3'

Sequencing Primer
(F):5'- AAAGGACGCTTCAGTTACTTTTGTGC -3'
(R):5'- TGAGCACTGTCAACACACTCAG -3'
Posted On 2016-08-04