Incidental Mutation 'R7843:Blmh'
ID 606464
Institutional Source Beutler Lab
Gene Symbol Blmh
Ensembl Gene ENSMUSG00000020840
Gene Name bleomycin hydrolase
Synonyms
MMRRC Submission 045897-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R7843 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 76836482-76878215 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76837139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 29 (N29D)
Ref Sequence ENSEMBL: ENSMUSP00000021197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021197] [ENSMUST00000125145] [ENSMUST00000140781] [ENSMUST00000146197] [ENSMUST00000155053] [ENSMUST00000168124]
AlphaFold Q8R016
Predicted Effect probably damaging
Transcript: ENSMUST00000021197
AA Change: N29D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021197
Gene: ENSMUSG00000020840
AA Change: N29D

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 damaging
Transcript: ENSMUST00000146197
AA Change: N74D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118243
Gene: ENSMUSG00000020840
AA Change: N74D

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 damaging
Transcript: ENSMUST00000168124
AA Change: N29D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130370
Gene: ENSMUSG00000020840
AA Change: N29D

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
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 T C 17: 36,270,135 (GRCm39) D641G possibly damaging Het
Adam1b A T 5: 121,639,500 (GRCm39) I515N probably damaging Het
Adamtsl5 A G 10: 80,178,757 (GRCm39) V207A probably damaging Het
Ampd3 A G 7: 110,390,395 (GRCm39) I143V probably benign Het
Ank3 A T 10: 69,822,788 (GRCm39) T486S probably benign Het
Bcl11a A G 11: 24,114,831 (GRCm39) I725V probably benign Het
C6 T A 15: 4,837,886 (GRCm39) V832D Het
Ccdc191 T A 16: 43,779,699 (GRCm39) L777M probably damaging Het
Ccdc74a C G 16: 17,464,613 (GRCm39) H45Q Het
Cenpe T A 3: 134,938,720 (GRCm39) Y517* probably null Het
Cep290 G T 10: 100,352,050 (GRCm39) R752L possibly damaging Het
Cers5 A T 15: 99,670,212 (GRCm39) W17R unknown Het
Chpf T C 1: 75,454,931 (GRCm39) probably benign Het
Chst5 C A 8: 112,617,204 (GRCm39) A139S probably benign Het
Cpn1 T A 19: 43,974,597 (GRCm39) D44V probably benign Het
Cstf1 T C 2: 172,219,920 (GRCm39) Y344H probably damaging Het
D7Ertd443e A C 7: 133,950,824 (GRCm39) M283R possibly damaging Het
Dclk1 T A 3: 55,163,298 (GRCm39) V130D probably damaging Het
Dscam C T 16: 96,626,830 (GRCm39) V360M probably damaging Het
Dvl2 A G 11: 69,899,612 (GRCm39) N518S probably benign Het
Eif2ak2 T A 17: 79,176,203 (GRCm39) K231N probably benign Het
Elovl4 T C 9: 83,670,324 (GRCm39) R123G probably damaging Het
Ern2 A G 7: 121,772,931 (GRCm39) V562A probably damaging Het
F13a1 A T 13: 37,209,745 (GRCm39) N73K probably benign Het
Gcc2 C A 10: 58,103,843 (GRCm39) Q90K possibly damaging Het
Gnpda1 A T 18: 38,461,952 (GRCm39) S282T probably benign Het
Gpatch1 G T 7: 34,980,879 (GRCm39) H880Q unknown Het
Haus6 T C 4: 86,504,578 (GRCm39) D471G possibly damaging Het
Hcfc1r1 G T 17: 23,893,630 (GRCm39) E70* probably null Het
Ighv1-54 A G 12: 115,157,483 (GRCm39) W55R probably damaging Het
Jam3 T C 9: 27,017,712 (GRCm39) probably null Het
Klhdc7a A T 4: 139,694,155 (GRCm39) V264E possibly damaging Het
Lrrc4c A T 2: 97,460,558 (GRCm39) T395S probably benign Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Mast2 G T 4: 116,210,208 (GRCm39) T186K probably damaging Het
Meig1 T A 2: 3,410,248 (GRCm39) K84M probably damaging Het
Mep1b G T 18: 21,228,110 (GRCm39) S571I probably damaging Het
Muc2 T G 7: 141,281,662 (GRCm39) V507G probably benign Het
Nkx2-3 C A 19: 43,603,321 (GRCm39) T309N probably benign Het
Oaf G A 9: 43,134,077 (GRCm39) R215C probably damaging Het
Or1ad1 A T 11: 50,875,845 (GRCm39) T106S probably benign Het
Or5b109 A T 19: 13,211,901 (GRCm39) N96Y possibly damaging Het
Or8b1c T C 9: 38,384,243 (GRCm39) S67P probably damaging Het
Pla2r1 T G 2: 60,277,819 (GRCm39) T835P possibly damaging Het
Ppil6 C T 10: 41,377,862 (GRCm39) T191I probably benign Het
Rps6ka5 T C 12: 100,519,408 (GRCm39) D735G possibly damaging Het
Setx T A 2: 29,063,581 (GRCm39) N2292K probably damaging Het
Slc1a6 A T 10: 78,632,094 (GRCm39) I307F probably damaging Het
Slc5a3 T A 16: 91,875,907 (GRCm39) W655R probably benign Het
Slc9a1 T C 4: 133,097,753 (GRCm39) probably benign Het
Sptbn1 A G 11: 30,104,320 (GRCm39) V128A probably damaging Het
Tenm3 T A 8: 48,682,146 (GRCm39) K2495* probably null Het
Tnni3k T A 3: 154,744,161 (GRCm39) T64S probably damaging Het
Top1 T C 2: 160,556,176 (GRCm39) V545A possibly damaging Het
Trabd A G 15: 88,966,157 (GRCm39) D38G possibly damaging Het
Tsbp1 C T 17: 34,668,798 (GRCm39) T176I possibly damaging Het
Umad1 G A 6: 8,401,140 (GRCm39) D70N unknown Het
Usp36 T C 11: 118,176,791 (GRCm39) E9G probably damaging Het
Vmn2r53 A G 7: 12,316,026 (GRCm39) S598P probably damaging Het
Vmn2r60 A T 7: 41,844,511 (GRCm39) T625S probably benign Het
Vmn2r72 G A 7: 85,398,838 (GRCm39) T505I probably benign Het
Vwce T A 19: 10,641,647 (GRCm39) I791K probably benign Het
Wdr64 C A 1: 175,639,668 (GRCm39) H1046N probably benign Het
Zdhhc4 A T 5: 143,306,031 (GRCm39) D232E probably damaging Het
Zfp984 A T 4: 147,842,165 (GRCm39) F51I probably damaging 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
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'- ACTCTGCAGGATGCTCTTG -3'
(R):5'- TACAAAGCTCTGTTATCCCAGG -3'

Sequencing Primer
(F):5'- CAGGATGCTCTTGCGAAGTTAAATC -3'
(R):5'- CAGGGCCATTTTTAGGACAAC -3'
Posted On 2019-12-20