Mutagenetix > Incidental Mutation

Incidental Mutation 'R9756:Blmh'

732752

Institutional Source

Beutler Lab

Gene Symbol

Blmh

Ensembl Gene

ENSMUSG00000020840

Gene Name

bleomycin hydrolase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

R9756 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76836482-76878215 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76859509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 370 (M370K)

Ref Sequence

ENSEMBL: ENSMUSP00000021197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021197] [ENSMUST00000125145] [ENSMUST00000168124]

AlphaFold

Q8R016

Predicted Effect

probably damaging
Transcript: ENSMUST00000021197
AA Change: M370K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021197
Gene: ENSMUSG00000020840
AA Change: M370K

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C1_2	5	451	1.8e-210	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125145

SMART Domains

Protein: ENSMUSP00000132739
Gene: ENSMUSG00000020840

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C1_2	1	179	6.5e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168124

SMART Domains

Protein: ENSMUSP00000130370
Gene: ENSMUSG00000020840

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C1_2	5	70	4.1e-11	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,421,906 (GRCm39)	Y94F	possibly damaging	Het
Abcb5	A	G	12: 118,881,873 (GRCm39)	S619P	probably damaging	Het
Adgrf5	A	G	17: 43,761,137 (GRCm39)	N944S	probably benign	Het
Ano1	T	A	7: 144,162,666 (GRCm39)	M689L	probably benign	Het
Antxr1	T	A	6: 87,217,936 (GRCm39)	H314L	probably benign	Het
Atp13a5	CA	C	16: 29,051,583 (GRCm39)		probably null	Het
Cdh8	G	A	8: 99,759,976 (GRCm39)	T591M	probably damaging	Het
Cep290	G	A	10: 100,352,034 (GRCm39)	E747K	probably damaging	Het
Chd6	T	C	2: 160,802,259 (GRCm39)	S2192G	probably benign	Het
Cldn8	T	G	16: 88,359,917 (GRCm39)	T3P	probably benign	Het
Crtac1	A	G	19: 42,286,780 (GRCm39)	L421P	probably damaging	Het
Ddx59	G	T	1: 136,345,069 (GRCm39)	A247S	probably damaging	Het
Defa38	C	T	8: 21,585,943 (GRCm39)	V42I	possibly damaging	Het
Dennd5a	A	G	7: 109,496,174 (GRCm39)	V1164A	possibly damaging	Het
Dnhd1	A	T	7: 105,353,135 (GRCm39)	T2763S	probably benign	Het
Evpl	T	C	11: 116,112,077 (GRCm39)	D1871G	probably damaging	Het
Fat1	T	A	8: 45,496,974 (GRCm39)	I4153N	probably damaging	Het
Fbxl17	A	G	17: 63,367,310 (GRCm39)	Y688H	probably damaging	Het
Fntb	A	G	12: 76,966,938 (GRCm39)	E424G	probably benign	Het
Gabra4	A	G	5: 71,729,067 (GRCm39)	M571T	probably damaging	Het
Hoxb5	T	C	11: 96,194,449 (GRCm39)	Y4H	probably damaging	Het
Htr1a	T	C	13: 105,581,450 (GRCm39)	V230A	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv3-4	T	C	12: 114,217,448 (GRCm39)	T48A	probably damaging	Het
Il15ra	A	G	2: 11,728,259 (GRCm39)	M53V	probably benign	Het
Ipo9	A	C	1: 135,314,057 (GRCm39)	D945E	probably benign	Het
Klk1b22	A	T	7: 43,765,254 (GRCm39)		probably null	Het
Klkb1	T	C	8: 45,735,811 (GRCm39)	N184S	possibly damaging	Het
Lbhd2	G	A	12: 111,376,774 (GRCm39)	A74T	probably damaging	Het
Lpcat3	A	G	6: 124,679,967 (GRCm39)		probably null	Het
Luzp1	T	C	4: 136,270,048 (GRCm39)	I757T	probably damaging	Het
Mbd5	C	A	2: 49,169,283 (GRCm39)	P1485T	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mical2	C	T	7: 111,902,928 (GRCm39)	T133I	probably damaging	Het
Mylk	T	C	16: 34,734,387 (GRCm39)	S663P	probably damaging	Het
Or2ag13	A	T	7: 106,313,002 (GRCm39)	N295K	probably benign	Het
Or2j3	A	G	17: 38,615,971 (GRCm39)	V127A	probably benign	Het
Or4x11	A	T	2: 89,867,674 (GRCm39)	N137I	probably benign	Het
Or5ak22	T	A	2: 85,230,682 (GRCm39)	H65L	probably damaging	Het
Or5b119	G	A	19: 13,456,986 (GRCm39)	T192I	probably benign	Het
Or8b12	G	A	9: 37,658,314 (GRCm39)	D295N	possibly damaging	Het
Patj	G	T	4: 98,565,535 (GRCm39)	A1656S	probably benign	Het
Peg10	GC	GCGCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pigz	G	T	16: 31,763,787 (GRCm39)	G282C	probably damaging	Het
Pomk	G	A	8: 26,472,918 (GRCm39)	T345M	possibly damaging	Het
Psap	T	C	10: 60,130,784 (GRCm39)	S205P	possibly damaging	Het
Ptpn6	A	T	6: 124,705,592 (GRCm39)	F186L	probably damaging	Het
Rnase2b	T	C	14: 51,400,302 (GRCm39)	S128P	probably damaging	Het
Rnf112	C	T	11: 61,340,667 (GRCm39)	V536I	probably damaging	Het
Rnf31	A	T	14: 55,836,582 (GRCm39)	E805D	probably damaging	Het
Rps6kc1	A	T	1: 190,604,021 (GRCm39)	D200E	probably benign	Het
Rufy2	T	C	10: 62,818,519 (GRCm39)	L25P	probably damaging	Het
Sec14l2	T	A	11: 4,053,978 (GRCm39)	K230*	probably null	Het
Senp1	A	G	15: 97,957,806 (GRCm39)	I364T	possibly damaging	Het
Sod1	T	A	16: 90,017,753 (GRCm39)	M3K	probably benign	Het
Stab2	T	C	10: 86,803,553 (GRCm39)	D332G	possibly damaging	Het
Tcf4	G	T	18: 69,790,830 (GRCm39)	E408*	probably null	Het
Tdrd1	T	C	19: 56,831,662 (GRCm39)	M351T	probably benign	Het
Tmem39a	T	C	16: 38,396,126 (GRCm39)	Y120H	probably benign	Het
Trav16	C	A	14: 53,980,886 (GRCm39)	T25K	possibly damaging	Het
Unc13c	T	A	9: 73,839,526 (GRCm39)	N442Y	probably benign	Het
Vmn2r71	A	T	7: 85,268,573 (GRCm39)	K259*	probably null	Het
Yipf1	T	C	4: 107,176,247 (GRCm39)	V47A	probably benign	Het
Zeb2	T	C	2: 44,887,414 (GRCm39)	T548A	possibly damaging	Het
Zmym4	A	G	4: 126,771,502 (GRCm39)	F1291L	probably damaging	Het

Other mutations in Blmh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- AGTGTACGTTTGTGCAGAGCC -3'
(R):5'- TGAGCAAGTAACTAAACACCAAGTG -3'

Sequencing Primer
(F):5'- AGAGCCACTCTTTTGGGGC -3'
(R):5'- CAGGAACATCTTAACATCTTACTTGG -3'

Posted On

2022-11-14