|Institutional Source||Beutler Lab|
|Gene Name||bleomycin hydrolase|
|Is this an essential gene?||Possibly non essential (E-score: 0.435)|
|Stock #||R7661 (G1)|
|Chromosomal Location||76924809-76987379 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 76986515 bp|
|Amino Acid Change||Valine to Aspartic acid at position 419 (V419D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021197 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021197] [ENSMUST00000168124]|
|Predicted Effect||probably damaging
AA Change: V419D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V419D
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||96% (50/52)|
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||
|Other mutations in Blmh||
(F):5'- GTACAAGTCAGCACCACAGAGG -3'
(R):5'- AACTTTGGTTTCAGTCCCCGG -3'
(F):5'- CACAGATTGCTAGTAAACTGGAGCTC -3'
(R):5'- GTTTCAGTCCCCGGGTCTG -3'