Incidental Mutation 'IGL00661:Blmh'
ID 9272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Blmh
Ensembl Gene ENSMUSG00000020840
Gene Name bleomycin hydrolase
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # IGL00661
Quality Score
Status
Chromosome 11
Chromosomal Location 76836482-76878215 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 76856758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 118 (K118*)
Ref Sequence ENSEMBL: ENSMUSP00000132739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021197] [ENSMUST00000125145] [ENSMUST00000168124]
AlphaFold Q8R016
Predicted Effect probably null
Transcript: ENSMUST00000021197
AA Change: K255*
SMART Domains Protein: ENSMUSP00000021197
Gene: ENSMUSG00000020840
AA Change: K255*

DomainStartEndE-ValueType
Pfam:Peptidase_C1_2 5 451 1.8e-210 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000125145
AA Change: K118*
SMART Domains Protein: ENSMUSP00000132739
Gene: ENSMUSG00000020840
AA Change: K118*

DomainStartEndE-ValueType
Pfam:Peptidase_C1_2 1 179 6.5e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145732
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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Blmh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Blmh APN 11 76,857,839 (GRCm39) missense probably damaging 1.00
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
R8150:Blmh UTSW 11 76,859,455 (GRCm39) missense probably benign 0.32
R8937:Blmh UTSW 11 76,857,883 (GRCm39) missense probably benign
R9756:Blmh UTSW 11 76,859,509 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06