Mutagenetix > Incidental Mutations

Incidental Mutation 'R0570:Blmh'

46398

Institutional Source

Beutler Lab

Gene Symbol

Blmh

Ensembl Gene

ENSMUSG00000020840

Gene Name

bleomycin hydrolase

Synonyms

MMRRC Submission

038761-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

R0570 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

76924809-76987379 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76965825 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 82 (V82A)

Ref Sequence

ENSEMBL: ENSMUSP00000132739 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021197
AA Change: V219A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021197
Gene: ENSMUSG00000020840
AA Change: V219A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125145
AA Change: V82A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132739
Gene: ENSMUSG00000020840
AA Change: V82A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145732

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

Meta Mutation Damage Score

0.2887

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	C	A	8: 84,003,104		probably benign	Het
Aadacl3	C	T	4: 144,463,560	W57*	probably null	Het
Abca2	G	T	2: 25,447,405		probably null	Het
Abca3	A	G	17: 24,374,399	I257V	probably benign	Het
Adamts2	A	G	11: 50,776,136	D420G	probably damaging	Het
Adamts5	A	G	16: 85,899,247	F341L	probably damaging	Het
Ahnak	T	A	19: 9,013,698	D4115E	probably damaging	Het
Arhgap20	T	C	9: 51,840,451	S365P	possibly damaging	Het
Atrn	G	A	2: 130,980,134	V916I	probably benign	Het
C1ra	A	T	6: 124,513,705	Y19F	probably benign	Het
Cactin	A	G	10: 81,323,233	E306G	probably damaging	Het
Celsr1	C	T	15: 85,903,365	R2724Q	probably benign	Het
Clca4b	T	C	3: 144,925,349	E250G	probably benign	Het
Col17a1	A	T	19: 47,665,878	S647T	possibly damaging	Het
Cope	T	A	8: 70,306,531	D74E	probably damaging	Het
Dsg1c	T	C	18: 20,270,378	I198T	probably damaging	Het
Elfn2	T	C	15: 78,673,234	N371S	probably damaging	Het
Elmo2	G	T	2: 165,304,919	A246D	probably benign	Het
Ewsr1	A	T	11: 5,085,935	M187K	possibly damaging	Het
Faap100	A	T	11: 120,374,288	S587R	possibly damaging	Het
Fam234b	C	T	6: 135,209,249	S85L	probably benign	Het
Fanca	A	T	8: 123,306,430	S292R	probably benign	Het
Fanci	G	A	7: 79,443,963	C1021Y	probably damaging	Het
Fhod3	T	C	18: 25,112,583	I1230T	probably benign	Het
Fmo5	T	C	3: 97,629,140	L27S	probably damaging	Het
Fmo9	A	G	1: 166,674,462	V147A	probably null	Het
Fnbp4	A	G	2: 90,752,957	Y309C	probably damaging	Het
Foxb1	T	C	9: 69,759,562	T229A	probably benign	Het
Gapvd1	A	G	2: 34,728,540	Y274H	probably damaging	Het
Gbp8	T	C	5: 105,017,675		probably null	Het
Gcn1l1	T	A	5: 115,592,421	L888Q	probably damaging	Het
Gm17490	T	C	2: 11,625,649		probably benign	Het
Gtf2ird2	T	A	5: 134,208,944		probably null	Het
H2-Q1	A	G	17: 35,321,397	T153A	possibly damaging	Het
Ina	A	C	19: 47,023,499	E452A	probably benign	Het
Kars	A	G	8: 111,994,862		probably null	Het
Kif1c	A	G	11: 70,704,465	E124G	probably damaging	Het
Lpin3	T	C	2: 160,904,024		probably benign	Het
Lrp1	A	T	10: 127,555,009	C3006*	probably null	Het
Lyst	T	C	13: 13,709,386	L2953P	probably benign	Het
Mb21d2	G	A	16: 28,929,572	A31V	probably benign	Het
Melk	T	C	4: 44,308,906	Y88H	probably damaging	Het
Myrf	A	G	19: 10,211,797	S857P	probably damaging	Het
Nos2	A	G	11: 78,935,361	I153M	possibly damaging	Het
Olfr732	T	G	14: 50,281,913	L113F	probably benign	Het
Otof	A	G	5: 30,371,881		probably benign	Het
Patl2	A	G	2: 122,125,308	V249A	probably damaging	Het
Pcgf5	A	G	19: 36,412,180	Y19C	probably benign	Het
Pcnt	A	T	10: 76,412,107	V951E	probably damaging	Het
Pcolce2	T	C	9: 95,638,657	V29A	probably benign	Het
Pdgfrb	A	T	18: 61,077,703	M761L	probably benign	Het
Pi16	A	T	17: 29,319,215	M1L	possibly damaging	Het
Pkd2	T	A	5: 104,455,605		probably benign	Het
Plcb2	A	G	2: 118,717,325	W474R	probably benign	Het
Psapl1	A	G	5: 36,204,280	D72G	possibly damaging	Het
Ptpn5	T	A	7: 47,078,933		probably benign	Het
Ptprg	A	G	14: 12,215,896	E1115G	probably damaging	Het
Rassf1	C	T	9: 107,557,966	T224I	probably damaging	Het
Rbpms2	T	A	9: 65,659,194	C168*	probably null	Het
Rhag	A	G	17: 40,828,913		probably benign	Het
Rhebl1	C	T	15: 98,881,153	V17I	probably benign	Het
Rnf130	A	T	11: 50,095,876	D349V	possibly damaging	Het
Rprd1a	A	G	18: 24,509,895	L60P	probably damaging	Het
Rspry1	T	C	8: 94,629,792	I25T	probably damaging	Het
Ruvbl2	C	T	7: 45,422,197	V421M	probably damaging	Het
Sap30	T	C	8: 57,482,966	N209D	possibly damaging	Het
Sfswap	T	C	5: 129,503,978		probably benign	Het
Slc1a2	G	A	2: 102,756,007	V319M	probably damaging	Het
Smad2	T	C	18: 76,289,179		probably benign	Het
Spdya	T	C	17: 71,562,590		probably null	Het
Stk39	G	A	2: 68,410,048	T113M	probably damaging	Het
Tanc1	A	G	2: 59,796,038		probably benign	Het
Tas2r122	T	C	6: 132,711,811	K40E	probably damaging	Het
Tph2	G	T	10: 115,174,134		probably benign	Het
Trip12	G	A	1: 84,751,548	S1083F	probably damaging	Het
Tsc2	A	T	17: 24,626,727	C206S	probably damaging	Het
Tsc22d4	A	G	5: 137,762,419	Q34R	possibly damaging	Het
Uroc1	G	T	6: 90,338,564	M142I	possibly damaging	Het
Uso1	T	C	5: 92,199,823	S766P	probably benign	Het
Usp21	G	A	1: 171,283,746		probably benign	Het
Usp48	T	A	4: 137,633,126	I658K	possibly damaging	Het
Vmn1r206	T	C	13: 22,620,413	H208R	probably damaging	Het
Vmn2r109	C	T	17: 20,540,675	A807T	probably damaging	Het
Zfp329	A	T	7: 12,810,452	C382S	probably damaging	Het
Zfp341	A	G	2: 154,646,068	E817G	probably benign	Het

Other mutations in Blmh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7807:Blmh	UTSW	11	76946214	missense	probably benign	0.03
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

Predicted Primers

PCR Primer
(F):5'- TCAGAACTTTGTTGCTCAGGGTGC -3'
(R):5'- AGTTTCCCGAAAGGCCAGGAGATG -3'

Sequencing Primer
(F):5'- CCTGAGAACTGAGATGTTGAATGTG -3'
(R):5'- GTGCTCTGAGCCTATACGAAAAATC -3'

Posted On

2013-06-11