Incidental Mutation 'R6329:Bnip1'
ID 509434
Institutional Source Beutler Lab
Gene Symbol Bnip1
Ensembl Gene ENSMUSG00000024191
Gene Name BCL2/adenovirus E1B interacting protein 1
Synonyms 2010005M06Rik, 5930429G21Rik
MMRRC Submission 044483-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6329 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 27000040-27011539 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 27005684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 64 (S64*)
Ref Sequence ENSEMBL: ENSMUSP00000118933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015725] [ENSMUST00000126505] [ENSMUST00000135824]
AlphaFold Q6QD59
Predicted Effect probably null
Transcript: ENSMUST00000015725
AA Change: S64*
SMART Domains Protein: ENSMUSP00000015725
Gene: ENSMUSG00000024191
AA Change: S64*

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 null
Transcript: ENSMUST00000134344
AA Change: S54*
SMART Domains Protein: ENSMUSP00000122734
Gene: ENSMUSG00000024191
AA Change: S54*

DomainStartEndE-ValueType
coiled coil region 27 79 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000135824
AA Change: S64*
SMART Domains Protein: ENSMUSP00000118933
Gene: ENSMUSG00000024191
AA Change: S64*

DomainStartEndE-ValueType
coiled coil region 37 90 N/A INTRINSIC
Pfam:Sec20 99 190 1.4e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135899
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,879,457 (GRCm39) H72R probably damaging Het
Abca13 A T 11: 9,227,937 (GRCm39) N660I probably damaging Het
Actr8 C T 14: 29,715,041 (GRCm39) R619* probably null Het
Adam18 C A 8: 25,104,843 (GRCm39) G657V probably damaging Het
Adcyap1 A G 17: 93,510,227 (GRCm39) E85G probably benign Het
Akr1c14 A G 13: 4,137,302 (GRCm39) Y305C probably damaging Het
Ankdd1b T A 13: 96,591,388 (GRCm39) H37L possibly damaging Het
Ap4e1 T C 2: 126,903,636 (GRCm39) L846P probably benign Het
Aqp9 A T 9: 71,039,966 (GRCm39) Y105* probably null Het
Arid1b C T 17: 5,387,538 (GRCm39) Q1664* probably null Het
Aup1 A G 6: 83,031,588 (GRCm39) probably benign Het
Calcr T A 6: 3,687,621 (GRCm39) Q422L probably damaging Het
Ccdc162 T A 10: 41,539,147 (GRCm39) D407V possibly damaging Het
Ccdc66 G T 14: 27,208,441 (GRCm39) S760R probably benign Het
Cd22 T A 7: 30,577,193 (GRCm39) E38V probably damaging Het
Cggbp1 T C 16: 64,676,383 (GRCm39) Y150H probably damaging Het
Chd3 T C 11: 69,252,510 (GRCm39) K263R possibly damaging Het
Col4a2 T A 8: 11,496,238 (GRCm39) F1620I probably damaging Het
Col6a2 T C 10: 76,435,662 (GRCm39) T858A probably benign Het
Dnah7a T A 1: 53,580,273 (GRCm39) D1554V probably damaging Het
Dnajc25 A T 4: 59,013,678 (GRCm39) Q132L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Ehbp1l1 A C 19: 5,768,795 (GRCm39) I836S possibly damaging Het
Elf1 A G 14: 79,810,779 (GRCm39) Q288R possibly damaging Het
Fbn1 C A 2: 125,150,393 (GRCm39) V2608L possibly damaging Het
Frmpd1 T C 4: 45,268,551 (GRCm39) I232T possibly damaging Het
Fuca1 T A 4: 135,662,137 (GRCm39) I355N probably damaging Het
Gcnt4 A G 13: 97,083,781 (GRCm39) D359G probably damaging Het
Gm5134 T C 10: 75,790,494 (GRCm39) M30T possibly damaging Het
Grk1 T G 8: 13,455,704 (GRCm39) L196R probably damaging Het
Igkv14-126 A C 6: 67,873,548 (GRCm39) D92A probably damaging Het
Kmt2c A G 5: 25,520,600 (GRCm39) S1837P probably benign Het
Lhx4 T A 1: 155,578,300 (GRCm39) T281S probably benign Het
Lrrc55 G T 2: 85,026,653 (GRCm39) H124N probably benign Het
Marchf8 T A 6: 116,383,277 (GRCm39) I566N possibly damaging Het
Mycbp2 G A 14: 103,393,288 (GRCm39) A3091V probably benign Het
Nlrp4b A G 7: 10,458,847 (GRCm39) N355S probably benign Het
Nmur2 A G 11: 55,920,411 (GRCm39) V278A probably benign Het
Nod1 T C 6: 54,921,689 (GRCm39) M210V probably benign Het
Nt5c1b T A 12: 10,422,138 (GRCm39) C63* probably null Het
Or1e1f A G 11: 73,855,568 (GRCm39) I45V possibly damaging Het
Or1j17 A T 2: 36,578,694 (GRCm39) K227* probably null Het
Or4g7 C T 2: 111,309,573 (GRCm39) A148V possibly damaging Het
Or5d37 G A 2: 87,924,008 (GRCm39) P91S probably damaging Het
Or7g21 A C 9: 19,032,253 (GRCm39) M1L probably benign Het
Or8b37 T C 9: 37,959,121 (GRCm39) V201A probably benign Het
Or8g24 C T 9: 38,989,199 (GRCm39) V281I probably benign Het
Osbp2 T A 11: 3,665,153 (GRCm39) S517C probably damaging Het
Pcdha1 C T 18: 37,065,301 (GRCm39) P655L probably damaging Het
Pdcd6 A G 13: 74,452,098 (GRCm39) Y181H probably damaging Het
Perp G A 10: 18,731,502 (GRCm39) G154S probably damaging Het
Perp G T 10: 18,731,503 (GRCm39) G154V probably damaging Het
Pira13 T C 7: 3,825,850 (GRCm39) T340A probably damaging Het
Prokr1 T G 6: 87,558,774 (GRCm39) T204P possibly damaging Het
Prpf3 A T 3: 95,739,890 (GRCm39) C630S probably damaging Het
Pter C A 2: 12,985,359 (GRCm39) H230N probably damaging Het
Ptprs A T 17: 56,724,427 (GRCm39) Y1167* probably null Het
Rad54l2 T C 9: 106,595,121 (GRCm39) I279V possibly damaging Het
Rora T A 9: 69,280,468 (GRCm39) L347Q probably damaging Het
Runx1t1 T G 4: 13,785,136 (GRCm39) M1R probably null Het
Sdcbp A G 4: 6,381,064 (GRCm39) S70G probably benign Het
Serpinb12 A G 1: 106,881,493 (GRCm39) Y210C probably damaging Het
Sipa1 T C 19: 5,701,517 (GRCm39) E1015G probably damaging Het
Slc15a2 A C 16: 36,572,144 (GRCm39) L740R possibly damaging Het
Specc1 A G 11: 62,047,379 (GRCm39) E916G probably damaging Het
Spta1 T C 1: 174,041,743 (GRCm39) I1371T possibly damaging Het
Tagln3 T C 16: 45,533,365 (GRCm39) M130V probably benign Het
Tchh A T 3: 93,353,752 (GRCm39) E1064V unknown Het
Tdp1 A T 12: 99,880,330 (GRCm39) S464C probably damaging Het
Tdp1 G C 12: 99,880,331 (GRCm39) S464T probably benign Het
Tenm3 T C 8: 48,729,884 (GRCm39) Y1374C probably damaging Het
Tmprss3 A T 17: 31,402,833 (GRCm39) Y455* probably null Het
Ttc5 A G 14: 51,003,385 (GRCm39) V433A possibly damaging Het
Wnt5a A T 14: 28,240,449 (GRCm39) R180* probably null Het
Zfp53 A G 17: 21,728,372 (GRCm39) D135G probably benign Het
Zfp619 T A 7: 39,186,969 (GRCm39) C1000S probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
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'- ATTCTGCAGGCTCAAGGTTG -3'
(R):5'- TAACTCGCCATGAAGCCAG -3'

Sequencing Primer
(F):5'- GCAGTTGTTCTAGAGCTGACCAC -3'
(R):5'- GGCTTATCAGACAAACACCTGTAC -3'
Posted On 2018-04-02