Incidental Mutation 'R8150:Blmh'
ID 632921
Institutional Source Beutler Lab
Gene Symbol Blmh
Ensembl Gene ENSMUSG00000020840
Gene Name bleomycin hydrolase
Synonyms
MMRRC Submission 067576-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R8150 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 76836482-76878215 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76859455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 352 (V352A)
Ref Sequence ENSEMBL: ENSMUSP00000021197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021197] [ENSMUST00000125145] [ENSMUST00000168124]
AlphaFold Q8R016
Predicted Effect probably benign
Transcript: ENSMUST00000021197
AA Change: V352A

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021197
Gene: ENSMUSG00000020840
AA Change: V352A

DomainStartEndE-ValueType
Pfam:Peptidase_C1_2 5 451 1.8e-210 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125145
SMART Domains Protein: ENSMUSP00000132739
Gene: ENSMUSG00000020840

DomainStartEndE-ValueType
Pfam:Peptidase_C1_2 1 179 6.5e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168124
SMART Domains Protein: ENSMUSP00000130370
Gene: ENSMUSG00000020840

DomainStartEndE-ValueType
Pfam:Peptidase_C1_2 5 70 4.1e-11 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.5%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: The encoded protein is a cytoplasmic cysteine peptidase involved in inactivation of bleomycin, a glycopeptide which is a component of combination chemotherapy regimens for cancer. This encoded enzyme is highly conserved, and it contains the signature active site residues of cysteine protease papain superfamily enzymes. It is postulated that this enzyme has protective effects against bleomycin-induced pulmonary fibrosis and bleomycin tumor resistance. [provided by RefSeq, Jan 2010]
PHENOTYPE: About one-third of homozygous null mutants die neonatally; survivors develop variably penetrant tail dermatitis and pulmonary fibrosis following bleomycin treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,538,635 (GRCm39) M129L probably benign Het
Aadacl2fm1 A G 3: 59,843,558 (GRCm39) D84G probably damaging Het
Abca2 T C 2: 25,337,393 (GRCm39) I2416T probably damaging Het
Abca3 A G 17: 24,615,522 (GRCm39) D871G probably benign Het
Akap9 C T 5: 4,011,982 (GRCm39) T895I probably damaging Het
Aldh8a1 A G 10: 21,271,444 (GRCm39) E390G probably damaging Het
Ank2 T A 3: 126,741,162 (GRCm39) D1574V Het
Cacna1i T C 15: 80,259,540 (GRCm39) L1270P probably damaging Het
Ccdc80 T A 16: 44,947,792 (GRCm39) H923Q probably damaging Het
Cdc27 G A 11: 104,406,286 (GRCm39) H610Y probably damaging Het
Cep126 T C 9: 8,101,791 (GRCm39) I248V probably benign Het
Ces5a T C 8: 94,257,430 (GRCm39) N125S probably damaging Het
Chd3 G A 11: 69,254,510 (GRCm39) H201Y probably benign Het
Cpeb1 T C 7: 81,007,152 (GRCm39) T292A probably damaging Het
Gli2 G A 1: 118,763,558 (GRCm39) T1531I probably damaging Het
Gm6871 T C 7: 41,197,185 (GRCm39) T7A Het
Kank1 A G 19: 25,388,163 (GRCm39) D612G possibly damaging Het
Lhcgr AT ATT 17: 89,049,677 (GRCm39) 615 probably null Het
Mfsd6 T A 1: 52,747,800 (GRCm39) D355V probably benign Het
Myo7a T C 7: 97,712,846 (GRCm39) K1710E probably benign Het
Or13d1 C G 4: 52,970,788 (GRCm39) H56D probably damaging Het
Or52ae7 A G 7: 103,119,459 (GRCm39) D71G probably damaging Het
Pcdha8 G A 18: 37,126,264 (GRCm39) V249M probably damaging Het
Pglyrp3 A G 3: 91,933,790 (GRCm39) D145G probably benign Het
Pkhd1l1 A G 15: 44,410,055 (GRCm39) K2521E possibly damaging Het
Pld3 A G 7: 27,232,086 (GRCm39) V398A probably damaging Het
Plxnb1 A T 9: 108,941,146 (GRCm39) T1642S probably damaging Het
Ppp2r1a T G 17: 21,179,700 (GRCm39) V348G possibly damaging Het
Prdm2 C A 4: 142,859,303 (GRCm39) C1329F possibly damaging Het
Ric8a G T 7: 140,441,269 (GRCm39) G423V probably damaging Het
Rnf17 A G 14: 56,658,593 (GRCm39) D94G probably benign Het
Serpina3f T C 12: 104,185,769 (GRCm39) F325L probably damaging Het
Sin3a T A 9: 57,034,568 (GRCm39) V1247E possibly damaging Het
Skint5 C A 4: 113,798,087 (GRCm39) M165I probably benign Het
Slc19a3 T G 1: 83,000,216 (GRCm39) Y267S probably damaging Het
Slc22a27 A T 19: 7,887,390 (GRCm39) F196Y possibly damaging Het
Slc5a4b A T 10: 75,939,680 (GRCm39) I152N possibly damaging Het
Tbc1d9 T A 8: 83,982,519 (GRCm39) V768E probably damaging Het
Tex15 T A 8: 34,063,534 (GRCm39) M988K probably benign Het
Top2b T A 14: 16,393,291 (GRCm38) F317I probably damaging Het
Wfdc8 A T 2: 164,439,455 (GRCm39) L309* probably null Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp949 C T 9: 88,452,053 (GRCm39) T541I probably benign Het
Zkscan16 T A 4: 58,952,407 (GRCm39) I235N probably benign Het
Other mutations in Blmh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Blmh APN 11 76,857,839 (GRCm39) missense probably damaging 1.00
IGL00661:Blmh APN 11 76,856,758 (GRCm39) nonsense probably null
IGL02701:Blmh APN 11 76,862,736 (GRCm39) missense probably benign 0.00
IGL03350:Blmh APN 11 76,862,774 (GRCm39) missense probably damaging 1.00
R0570:Blmh UTSW 11 76,856,651 (GRCm39) missense probably damaging 1.00
R1519:Blmh UTSW 11 76,857,607 (GRCm39) missense probably damaging 1.00
R6724:Blmh UTSW 11 76,862,733 (GRCm39) critical splice acceptor site probably null
R7054:Blmh UTSW 11 76,859,451 (GRCm39) missense probably damaging 1.00
R7163:Blmh UTSW 11 76,836,987 (GRCm39) missense unknown
R7215:Blmh UTSW 11 76,856,725 (GRCm39) nonsense probably null
R7661:Blmh UTSW 11 76,877,341 (GRCm39) missense probably damaging 1.00
R7807:Blmh UTSW 11 76,837,040 (GRCm39) missense probably benign 0.03
R7843:Blmh UTSW 11 76,837,139 (GRCm39) missense probably damaging 1.00
R7895:Blmh UTSW 11 76,836,721 (GRCm39) critical splice donor site probably null
R7974:Blmh UTSW 11 76,856,729 (GRCm39) missense possibly damaging 0.92
R8937:Blmh UTSW 11 76,857,883 (GRCm39) missense probably benign
R9756:Blmh UTSW 11 76,859,509 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTAGTTTGACTCAGAAACTGGG -3'
(R):5'- TAACTGTGGCTCTGCTGGAC -3'

Sequencing Primer
(F):5'- TATGGTGCATTCCAGGACAC -3'
(R):5'- TGCTGGACAGACAGTCTACAG -3'
Posted On 2020-06-30