Mutagenetix > Incidental Mutation

Incidental Mutation 'R6724:Blmh'

529773

Institutional Source

Beutler Lab

Gene Symbol

Blmh

Ensembl Gene

ENSMUSG00000020840

Gene Name

bleomycin hydrolase

Synonyms

MMRRC Submission

044842-MU

Accession Numbers

Essential gene?

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

Stock #

R6724 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76836482-76878215 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 76862733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021197 (fasta)

Gene Model

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

AlphaFold

Q8R016

Predicted Effect

probably null
Transcript: ENSMUST00000021197

SMART Domains

Protein: ENSMUSP00000021197
Gene: ENSMUSG00000020840

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158288

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (63/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	A	16: 85,665,445 (GRCm39)	T619S	probably benign	Het
Adgra2	G	A	8: 27,604,210 (GRCm39)	A467T	possibly damaging	Het
Alox5	A	T	6: 116,391,509 (GRCm39)	I416N	probably damaging	Het
Cftr	T	A	6: 18,255,973 (GRCm39)	Y567*	probably null	Het
Cnr1	T	A	4: 33,944,728 (GRCm39)	M372K	possibly damaging	Het
Col6a3	T	C	1: 90,706,874 (GRCm39)	T2080A	unknown	Het
Crybg3	A	T	16: 59,364,501 (GRCm39)	C2374S	probably benign	Het
Csmd2	A	G	4: 128,457,164 (GRCm39)	I3544V	probably damaging	Het
Dnah12	A	T	14: 26,518,180 (GRCm39)	D1809V	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajb12	A	G	10: 59,728,602 (GRCm39)	D190G	possibly damaging	Het
Dtnb	T	A	12: 3,736,817 (GRCm39)	V319D	probably damaging	Het
Eif1ad6	A	T	12: 87,668,754 (GRCm39)	I129F	unknown	Het
Ercc6	A	T	14: 32,288,288 (GRCm39)	E820V	probably benign	Het
Fip1l1	T	G	5: 74,752,435 (GRCm39)	V378G	probably damaging	Het
Gabrg1	T	A	5: 70,911,552 (GRCm39)	Y358F	possibly damaging	Het
Gcn1	T	G	5: 115,747,217 (GRCm39)		probably null	Het
Gm11011	T	A	2: 169,429,402 (GRCm39)	T28S	unknown	Het
Guf1	C	A	5: 69,723,736 (GRCm39)	N438K	probably damaging	Het
Hoxa7	T	C	6: 52,192,719 (GRCm39)	E223G	probably benign	Het
Hspg2	G	A	4: 137,242,618 (GRCm39)	G611E	probably damaging	Het
Ipo8	A	T	6: 148,711,473 (GRCm39)		probably null	Het
Isl2	A	G	9: 55,448,572 (GRCm39)	D3G	possibly damaging	Het
Kcnb2	A	G	1: 15,780,664 (GRCm39)	Y512C	probably damaging	Het
Kifc1	T	A	17: 34,105,707 (GRCm39)		probably null	Het
Klhdc10	A	G	6: 30,446,640 (GRCm39)	D183G	probably damaging	Het
Klra5	T	A	6: 129,883,643 (GRCm39)	K71N	probably benign	Het
Lrp6	T	C	6: 134,463,504 (GRCm39)	H559R	possibly damaging	Het
Maml3	T	C	3: 51,763,296 (GRCm39)	N556S	probably damaging	Het
Man2a1	A	G	17: 65,038,264 (GRCm39)	I83V	possibly damaging	Het
Mrgpra9	A	G	7: 46,884,786 (GRCm39)	S293P	probably damaging	Het
Nalcn	A	G	14: 123,535,479 (GRCm39)	S1282P	probably damaging	Het
Npepps	A	T	11: 97,096,828 (GRCm39)		probably benign	Het
Or4a72	A	T	2: 89,405,309 (GRCm39)	F254I	probably benign	Het
Or4c108	T	G	2: 88,803,612 (GRCm39)	I208L	probably benign	Het
Or8u10	A	T	2: 85,915,701 (GRCm39)	V140E	possibly damaging	Het
Or9m1	T	G	2: 87,733,946 (GRCm39)	S25R	probably benign	Het
Pkn3	C	A	2: 29,980,562 (GRCm39)	R818S	possibly damaging	Het
Plekha3	T	A	2: 76,517,745 (GRCm39)	H190Q	probably damaging	Het
Ppp2r3c	A	T	12: 55,335,281 (GRCm39)	S261T	probably benign	Het
Ptprj	T	C	2: 90,281,195 (GRCm39)	D1015G	probably benign	Het
Pus10	T	C	11: 23,679,037 (GRCm39)	M503T	possibly damaging	Het
Pvr	T	C	7: 19,652,604 (GRCm39)	R104G	possibly damaging	Het
Rubcnl	A	G	14: 75,289,450 (GRCm39)	R653G	probably benign	Het
Semp2l2a	A	T	8: 13,887,083 (GRCm39)	L336Q	probably damaging	Het
Serpina1a	G	T	12: 103,826,679 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,416,656 (GRCm39)	R265Q	probably damaging	Het
Slc22a22	C	T	15: 57,110,928 (GRCm39)	R433H	probably damaging	Het
Slc22a26	A	G	19: 7,779,726 (GRCm39)	I30T	probably benign	Het
Spz1	A	T	13: 92,711,992 (GRCm39)	N161K	possibly damaging	Het
Tacc2	A	G	7: 130,330,492 (GRCm39)	R259G	probably damaging	Het
Top1	G	A	2: 160,554,616 (GRCm39)	V456M	probably damaging	Het
Tpcn2	G	A	7: 144,810,257 (GRCm39)	A649V	probably benign	Het
Trank1	C	G	9: 111,194,984 (GRCm39)	R1003G	probably damaging	Het
Tril	T	A	6: 53,796,559 (GRCm39)	H221L	possibly damaging	Het
Unc79	C	T	12: 103,071,120 (GRCm39)	T1305I	probably damaging	Het
Unc80	C	T	1: 66,722,350 (GRCm39)	A2988V	possibly damaging	Het
Vinac1	A	C	2: 128,879,976 (GRCm39)	V650G	probably benign	Het
Vmn1r81	A	T	7: 11,994,599 (GRCm39)	M3K	probably damaging	Het
Vmn2r78	A	T	7: 86,603,466 (GRCm39)	D548V	probably damaging	Het
Vwa3b	G	A	1: 37,084,112 (GRCm39)	R95Q	probably damaging	Het
Wdr6	G	A	9: 108,452,093 (GRCm39)	H597Y	probably benign	Het
Yme1l1	C	T	2: 23,084,774 (GRCm39)	T624I	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
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
R9756:Blmh	UTSW	11	76,859,509 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTATTCCTTTCTGCTTAGAATAGG -3'
(R):5'- GGGACTGAGTACCAACAAATCC -3'

Sequencing Primer
(F):5'- GAGTTCAAGGCCAGTCTAGTCTAC -3'
(R):5'- TGAGTACCAACAAATCCCCTTCACTG -3'

Posted On

2018-08-01