Incidental Mutation 'R7661:Blmh'
ID 591582
Institutional Source Beutler Lab
Gene Symbol Blmh
Ensembl Gene ENSMUSG00000020840
Gene Name bleomycin hydrolase
Synonyms
MMRRC Submission 045736-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R7661 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 76836482-76878215 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76877341 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8R016
Predicted Effect probably damaging
Transcript: ENSMUST00000021197
AA Change: V419D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021197
Gene: ENSMUSG00000020840
AA Change: V419D

DomainStartEndE-ValueType
Pfam:Peptidase_C1_2 5 451 1.8e-210 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
Meta Mutation Damage Score 0.8146 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (50/52)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110018I06Rik A T 12: 107,455,215 (GRCm39) K100N unknown Het
Abi3bp T A 16: 56,453,263 (GRCm39) probably null Het
Akr1c20 T C 13: 4,558,218 (GRCm39) D210G probably benign Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Ascc1 A C 10: 59,885,629 (GRCm39) N227H probably damaging Het
Atp5f1a G T 18: 77,861,802 (GRCm39) A18S possibly damaging Het
Bcl2l13 A G 6: 120,842,558 (GRCm39) T84A possibly damaging Het
Cacna1d G A 14: 29,769,177 (GRCm39) P1918S probably benign Het
Calr4 T C 4: 109,110,951 (GRCm39) V339A probably benign Het
Capza3 C A 6: 139,987,498 (GRCm39) D32E probably benign Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cldn20 T A 17: 3,583,133 (GRCm39) M102K possibly damaging Het
Dennd1a T C 2: 37,734,841 (GRCm39) Q479R probably benign Het
Dpp10 A T 1: 123,312,681 (GRCm39) I432N probably damaging Het
Dst T A 1: 34,295,434 (GRCm39) probably null Het
Efcab3 T A 11: 104,617,503 (GRCm39) D741E probably benign Het
Fam135a C T 1: 24,111,843 (GRCm39) probably null Het
Fam47e C T 5: 92,735,384 (GRCm39) L206F probably damaging Het
Focad G A 4: 88,221,772 (GRCm39) R714H unknown Het
Hace1 T G 10: 45,481,649 (GRCm39) V124G probably damaging Het
Ifit1bl2 T A 19: 34,596,428 (GRCm39) Y396F probably damaging Het
Il22ra2 A G 10: 19,497,826 (GRCm39) I13M probably benign Het
Kif21a A G 15: 90,865,122 (GRCm39) F517L possibly damaging Het
Lrrc4 T C 6: 28,829,762 (GRCm39) T618A probably benign Het
Mdn1 A G 4: 32,691,229 (GRCm39) T952A probably benign Het
Mindy3 A T 2: 12,402,328 (GRCm39) I208K probably damaging Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mycbp2 A G 14: 103,450,059 (GRCm39) I1744T probably damaging Het
Nanog A T 6: 122,690,431 (GRCm39) R279W probably damaging Het
Ncoa2 T A 1: 13,244,761 (GRCm39) T646S probably damaging Het
Ndufa5 A G 6: 24,518,724 (GRCm39) *117R probably null Het
Nudt18 A T 14: 70,817,276 (GRCm39) E293D probably benign Het
Or1e22 A G 11: 73,377,426 (GRCm39) S75P probably damaging Het
Or51aa2 A T 7: 103,187,826 (GRCm39) V205E probably damaging Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pigg G A 5: 108,486,485 (GRCm39) V713I probably benign Het
Pih1d2 T C 9: 50,529,558 (GRCm39) probably null Het
Ppp2r3d A G 9: 124,442,696 (GRCm38) F17L Het
Ptprk T C 10: 28,342,036 (GRCm39) I481T probably benign Het
Pygo2 T C 3: 89,338,038 (GRCm39) probably null Het
Raet1d T C 10: 22,248,156 (GRCm39) S225P possibly damaging Het
Rnf24 T C 2: 131,164,135 (GRCm39) probably benign Het
Ror1 A G 4: 100,298,687 (GRCm39) S687G probably damaging Het
Rsph9 A G 17: 46,446,013 (GRCm39) S186P probably damaging Het
Sash1 C T 10: 8,605,155 (GRCm39) M1078I probably benign Het
Scd4 C A 19: 44,327,510 (GRCm39) D195E probably benign Het
Spopfm3 C T 3: 94,105,709 (GRCm39) T9I probably damaging Het
Syn3 A G 10: 85,904,940 (GRCm39) C348R probably damaging Het
Uspl1 T C 5: 149,151,827 (GRCm39) F1009S probably benign Het
Vmn1r2 T A 4: 3,172,149 (GRCm39) F23I probably benign Het
Vmn1r257 A G 7: 22,391,229 (GRCm39) S172P probably benign Het
Vmn2r-ps158 T A 7: 42,672,582 (GRCm39) N72K probably benign Het
Zfp747l1 A T 7: 126,984,135 (GRCm39) C322* probably null Het
Zfp839 C T 12: 110,835,226 (GRCm39) T827I 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
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
Predicted Primers PCR Primer
(F):5'- GTACAAGTCAGCACCACAGAGG -3'
(R):5'- AACTTTGGTTTCAGTCCCCGG -3'

Sequencing Primer
(F):5'- CACAGATTGCTAGTAAACTGGAGCTC -3'
(R):5'- GTTTCAGTCCCCGGGTCTG -3'
Posted On 2019-11-12