Incidental Mutation 'R7807:Blmh'
ID600879
Institutional Source Beutler Lab
Gene Symbol Blmh
Ensembl Gene ENSMUSG00000020840
Gene Namebleomycin hydrolase
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.353) question?
Stock #R7807 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location76924809-76987379 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76946214 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 41 (I41V)
Ref Sequence ENSEMBL: ENSMUSP00000118243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021197] [ENSMUST00000125145] [ENSMUST00000140781] [ENSMUST00000146197] [ENSMUST00000155053] [ENSMUST00000168124]
Predicted Effect probably benign
Transcript: ENSMUST00000021197
SMART Domains Protein: ENSMUSP00000021197
Gene: ENSMUSG00000020840

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: ENSMUST00000140781
SMART Domains Protein: ENSMUSP00000132608
Gene: ENSMUSG00000020840

DomainStartEndE-ValueType
Pfam:Peptidase_C1_2 1 57 9.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146197
AA Change: I41V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000118243
Gene: ENSMUSG00000020840
AA Change: I41V

DomainStartEndE-ValueType
Pfam:Peptidase_C1_2 50 209 4e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155053
SMART Domains Protein: ENSMUSP00000128505
Gene: ENSMUSG00000020840

DomainStartEndE-ValueType
Pfam:Peptidase_C1_2 1 130 9e-61 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,710,865 K1092E probably damaging Het
AB124611 C A 9: 21,535,980 T146K probably benign Het
Alms1 T A 6: 85,622,976 S1595T possibly damaging Het
Ankrd44 A T 1: 54,792,476 I56N probably damaging Het
Anln C A 9: 22,360,880 V648F probably damaging Het
Arhgap29 A G 3: 122,014,332 D1053G probably benign Het
Baalc T C 15: 38,934,017 S68P probably benign Het
Begain T C 12: 109,038,930 D52G probably damaging Het
Bpifc T A 10: 85,976,250 I365F possibly damaging Het
C2 G T 17: 34,876,371 S199R possibly damaging Het
Ccbe1 T A 18: 66,066,757 H298L probably damaging Het
Ccdc112 T A 18: 46,290,759 K304I probably damaging Het
Ccdc15 T C 9: 37,315,382 E432G probably benign Het
Cdh13 T A 8: 118,283,855 M1K probably null Het
Cipc T C 12: 86,962,125 S253P possibly damaging Het
Clcn1 A G 6: 42,310,348 probably null Het
Clock A T 5: 76,243,135 N273K probably benign Het
Cyp19a1 T C 9: 54,166,842 D476G probably benign Het
Dnah7b A G 1: 46,214,367 I1811V probably benign Het
Fat1 C A 8: 45,041,973 T4091K probably damaging Het
Gm10340 T A 14: 3,134,925 N64K probably damaging Het
Gm12394 A C 4: 42,793,885 H82Q probably benign Het
Hectd1 G A 12: 51,745,388 R2523C probably damaging Het
Hgf A G 5: 16,577,011 H244R probably damaging Het
Hgs G T 11: 120,479,934 A567S probably damaging Het
Igdcc4 T C 9: 65,133,795 V1036A probably benign Het
Keg1 G A 19: 12,714,634 probably null Het
Klhl8 A T 5: 103,876,066 L156Q probably damaging Het
Lmln T C 16: 33,107,131 Y521H probably benign Het
Lrrc7 A G 3: 158,160,487 S1206P probably damaging Het
Mad1l1 T A 5: 140,088,786 I550F probably benign Het
Marf1 C T 16: 14,153,889 W28* probably null Het
Mfsd11 T G 11: 116,863,907 S215A probably benign Het
Mpped2 C A 2: 106,744,740 H57N possibly damaging Het
Mslnl A G 17: 25,746,777 M542V probably benign Het
Myh6 G T 14: 54,942,440 H1903Q probably damaging Het
Neo1 T C 9: 58,990,494 T60A probably benign Het
Npm2 T A 14: 70,652,507 probably null Het
Olfr1165-ps T C 2: 88,101,565 S141G probably benign Het
Olfr1355 T A 10: 78,879,209 S12R probably benign Het
Olfr1487 C A 19: 13,619,921 T210K probably damaging Het
Pax9 A T 12: 56,697,065 I166F possibly damaging Het
Pcsk9 A G 4: 106,463,895 S6P possibly damaging Het
Pikfyve A G 1: 65,269,942 Y1893C probably damaging Het
Pirb T C 7: 3,719,865 T43A possibly damaging Het
Pou3f1 A G 4: 124,658,281 D192G possibly damaging Het
Pus3 C G 9: 35,566,725 R418G probably damaging Het
Rexo1 C T 10: 80,550,136 V363I probably benign Het
Sdcbp A G 4: 6,393,688 T269A probably damaging Het
Sele T C 1: 164,053,893 V523A probably benign Het
Serpinb8 T A 1: 107,604,727 M183K probably damaging Het
Sh2d4a T G 8: 68,282,381 S51A probably benign Het
Siglec15 A G 18: 78,047,481 S201P probably damaging Het
Slc10a5 C T 3: 10,335,469 V44I probably benign Het
Slc16a13 A G 11: 70,220,562 V39A probably damaging Het
Slc25a13 G A 6: 6,117,164 R184W probably damaging Het
Slc35f5 T A 1: 125,584,541 D359E probably damaging Het
Slc3a1 A G 17: 85,063,943 E641G probably benign Het
Slf1 T C 13: 77,046,704 D834G probably damaging Het
Stim1 T C 7: 102,427,141 I433T probably damaging Het
Stra6 T A 9: 58,150,161 I418K probably damaging Het
Tanc2 A G 11: 105,867,654 N747S probably benign Het
Tet2 T C 3: 133,486,541 T711A possibly damaging Het
Trpm6 T C 19: 18,829,856 I988T probably benign Het
Ttc41 T A 10: 86,776,631 I1256N probably benign Het
Uba2 T C 7: 34,163,213 D100G possibly damaging Het
Vmn1r43 A G 6: 89,870,237 I89T probably benign Het
Vmn2r58 T A 7: 41,872,486 Y62F probably benign Het
Ylpm1 C T 12: 85,014,081 Q428* probably null Het
Zcrb1 T C 15: 93,391,121 D88G probably damaging Het
Zmym1 A C 4: 127,047,874 I907S probably damaging Het
Other mutations in Blmh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Blmh APN 11 76967013 missense probably damaging 1.00
IGL00661:Blmh APN 11 76965932 nonsense probably null
IGL02701:Blmh APN 11 76971910 missense probably benign 0.00
IGL03350:Blmh APN 11 76971948 missense probably damaging 1.00
R0570:Blmh UTSW 11 76965825 missense probably damaging 1.00
R1519:Blmh UTSW 11 76966781 missense probably damaging 1.00
R6724:Blmh UTSW 11 76971907 critical splice acceptor site probably null
R7054:Blmh UTSW 11 76968625 missense probably damaging 1.00
R7163:Blmh UTSW 11 76946161 missense unknown
R7215:Blmh UTSW 11 76965899 nonsense probably null
R7661:Blmh UTSW 11 76986515 missense probably damaging 1.00
R7843:Blmh UTSW 11 76946313 missense probably damaging 1.00
R7895:Blmh UTSW 11 76945895 critical splice donor site probably null
R7974:Blmh UTSW 11 76965903 missense possibly damaging 0.92
R8150:Blmh UTSW 11 76968629 missense probably benign 0.32
R8937:Blmh UTSW 11 76967057 missense probably benign
Predicted Primers PCR Primer
(F):5'- GTACCACGAGTGTTTTCCCG -3'
(R):5'- TGAAACACATGCTGAGCACC -3'

Sequencing Primer
(F):5'- ACGAGTGTTTTCCCGGGTCC -3'
(R):5'- ACATGCTGAGCACCCTGGAC -3'
Posted On2019-11-26