Incidental Mutation 'R9161:Bnip5'
ID 695722
Institutional Source Beutler Lab
Gene Symbol Bnip5
Ensembl Gene ENSMUSG00000048905
Gene Name BCL2 interacting protein 5
Synonyms 4930539E08Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9161 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 29115366-29134298 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29128387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 175 (K175N)
Ref Sequence ENSEMBL: ENSMUSP00000050646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062357]
AlphaFold Q8CC96
Predicted Effect probably damaging
Transcript: ENSMUST00000062357
AA Change: K175N

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050646
Gene: ENSMUSG00000048905
AA Change: K175N

DomainStartEndE-ValueType
Pfam:CF222 31 669 1.6e-289 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228025
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T A 8: 13,272,270 (GRCm39) N1496I probably damaging Het
Arglu1 T C 8: 8,733,941 (GRCm39) E125G possibly damaging Het
Atad2 A T 15: 57,989,185 (GRCm39) I225N possibly damaging Het
Atrn T C 2: 130,777,470 (GRCm39) F173S probably damaging Het
BC024063 T A 10: 81,945,044 (GRCm39) H221Q probably benign Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdh24 A T 14: 54,876,097 (GRCm39) Y182N probably damaging Het
Cdkl4 A G 17: 80,851,120 (GRCm39) L194P probably damaging Het
Cep152 T A 2: 125,408,574 (GRCm39) R1327* probably null Het
Ckap5 A T 2: 91,445,653 (GRCm39) M1797L probably benign Het
Clasp1 A T 1: 118,474,651 (GRCm39) N895I probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Cotl1 G T 8: 120,549,456 (GRCm39) D85E probably benign Het
Cryba4 A C 5: 112,396,039 (GRCm39) probably null Het
Dync1h1 A G 12: 110,625,023 (GRCm39) K3817E probably benign Het
Ehd3 A T 17: 74,134,480 (GRCm39) R280* probably null Het
Erp29 T C 5: 121,583,146 (GRCm39) E260G possibly damaging Het
Fam135b T A 15: 71,334,417 (GRCm39) R926W possibly damaging Het
Fbn1 T C 2: 125,192,270 (GRCm39) N1413S probably damaging Het
Fbxw8 A G 5: 118,251,727 (GRCm39) V262A probably damaging Het
Gabrb1 A G 5: 72,187,199 (GRCm39) D164G probably damaging Het
Galnt15 T A 14: 31,780,116 (GRCm39) I471N probably damaging Het
Get1 A T 16: 95,953,139 (GRCm39) R77W probably damaging Het
Gon4l A G 3: 88,808,955 (GRCm39) N1733S probably damaging Het
Hmcn2 A G 2: 31,242,758 (GRCm39) T562A probably benign Het
Inha A G 1: 75,484,144 (GRCm39) I85V probably damaging Het
Kif28 A C 1: 179,526,244 (GRCm39) V897G probably benign Het
Map1s G A 8: 71,366,250 (GRCm39) R385H probably damaging Het
Map2 T C 1: 66,477,503 (GRCm39) V1750A possibly damaging Het
Mbd1 C T 18: 74,407,792 (GRCm39) P273L probably benign Het
Megf6 A G 4: 154,352,172 (GRCm39) T1226A probably benign Het
Muc5ac T A 7: 141,353,026 (GRCm39) C791S possibly damaging Het
Nlrc5 A C 8: 95,213,274 (GRCm39) H883P probably damaging Het
Nrip3 C T 7: 109,365,777 (GRCm39) R91H probably damaging Het
Or10w1 G A 19: 13,632,038 (GRCm39) V82M probably damaging Het
Or12j3 C T 7: 139,952,989 (GRCm39) C178Y probably damaging Het
Or51a10 C A 7: 103,699,725 (GRCm39) probably benign Het
Or8g21 A T 9: 38,905,816 (GRCm39) I305K possibly damaging Het
Or8k16 A G 2: 85,520,231 (GRCm39) T153A probably benign Het
Pdgfrb T G 18: 61,197,053 (GRCm39) L163R probably damaging Het
Pik3ip1 G T 11: 3,281,945 (GRCm39) R34L possibly damaging Het
Pip4k2b A G 11: 97,615,245 (GRCm39) F205S possibly damaging Het
Pttg1ip A C 10: 77,425,487 (GRCm39) N60T probably benign Het
Rab3ip C T 10: 116,750,066 (GRCm39) E356K probably damaging Het
Rai1 A G 11: 60,076,682 (GRCm39) N249D probably benign Het
Rd3l T C 12: 111,946,753 (GRCm39) K8E probably damaging Het
Rnf32 A G 5: 29,408,058 (GRCm39) K96E probably damaging Het
Rsf1 GGCG GGCGACCGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Slc4a1ap A G 5: 31,685,474 (GRCm39) K251E Het
Spink5 T A 18: 44,147,986 (GRCm39) N875K probably damaging Het
Taf6 G T 5: 138,178,160 (GRCm39) A447D probably benign Het
Tbxas1 A T 6: 38,999,989 (GRCm39) I259F probably damaging Het
Tcap G T 11: 98,275,256 (GRCm39) R130L probably damaging Het
Tyms T C 5: 30,266,040 (GRCm39) E293G Het
Vmn1r20 C A 6: 57,408,759 (GRCm39) F28L probably benign Het
Vmn2r120 A T 17: 57,831,864 (GRCm39) D308E Het
Vmn2r69 T A 7: 85,056,177 (GRCm39) I654F possibly damaging Het
Zfp990 G T 4: 145,261,509 (GRCm39) V52L possibly damaging Het
Other mutations in Bnip5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03040:Bnip5 APN 17 29,134,176 (GRCm39) missense probably benign 0.01
R4163:Bnip5 UTSW 17 29,118,503 (GRCm39) missense probably benign 0.04
R4667:Bnip5 UTSW 17 29,127,287 (GRCm39) missense possibly damaging 0.94
R4918:Bnip5 UTSW 17 29,127,337 (GRCm39) missense probably benign 0.08
R4942:Bnip5 UTSW 17 29,122,232 (GRCm39) missense probably benign
R5950:Bnip5 UTSW 17 29,124,729 (GRCm39) missense possibly damaging 0.84
R6073:Bnip5 UTSW 17 29,123,597 (GRCm39) missense probably damaging 0.99
R6556:Bnip5 UTSW 17 29,123,585 (GRCm39) missense probably damaging 0.99
R7392:Bnip5 UTSW 17 29,127,351 (GRCm39) missense probably benign 0.01
R7404:Bnip5 UTSW 17 29,124,298 (GRCm39) missense probably damaging 1.00
R7405:Bnip5 UTSW 17 29,124,298 (GRCm39) missense probably damaging 1.00
R7473:Bnip5 UTSW 17 29,124,298 (GRCm39) missense probably damaging 1.00
R7541:Bnip5 UTSW 17 29,124,298 (GRCm39) missense probably damaging 1.00
R7544:Bnip5 UTSW 17 29,124,298 (GRCm39) missense probably damaging 1.00
R7562:Bnip5 UTSW 17 29,128,778 (GRCm39) missense probably benign 0.02
R7588:Bnip5 UTSW 17 29,124,430 (GRCm39) missense probably benign 0.09
R8293:Bnip5 UTSW 17 29,121,864 (GRCm39) missense probably benign 0.05
R8355:Bnip5 UTSW 17 29,122,249 (GRCm39) missense probably damaging 1.00
R8432:Bnip5 UTSW 17 29,118,545 (GRCm39) missense probably benign
R9237:Bnip5 UTSW 17 29,123,522 (GRCm39) missense probably benign 0.07
R9549:Bnip5 UTSW 17 29,124,647 (GRCm39) missense
R9577:Bnip5 UTSW 17 29,128,382 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GCTGTGATCCGAGGAGATTG -3'
(R):5'- CACCAAGAAAGAGAGGCTTCCG -3'

Sequencing Primer
(F):5'- AGATTGGAGCACCCTGGTC -3'
(R):5'- AGAGGCTTCCGAGGGAG -3'
Posted On 2022-01-20