Incidental Mutation 'IGL00661:Blmh'
ID |
9272 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Blmh
|
Ensembl Gene |
ENSMUSG00000020840 |
Gene Name |
bleomycin hydrolase |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.323)
|
Stock # |
IGL00661
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
76836482-76878215 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 76856758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 118
(K118*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132739
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021197]
[ENSMUST00000125145]
[ENSMUST00000168124]
|
AlphaFold |
Q8R016 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021197
AA Change: K255*
|
SMART Domains |
Protein: ENSMUSP00000021197 Gene: ENSMUSG00000020840 AA Change: K255*
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C1_2
|
5 |
451 |
1.8e-210 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000125145
AA Change: K118*
|
SMART Domains |
Protein: ENSMUSP00000132739 Gene: ENSMUSG00000020840 AA Change: K118*
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 |
|
Coding Region Coverage |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
G |
4: 144,430,263 (GRCm39) |
V242A |
possibly damaging |
Het |
Antxr2 |
T |
C |
5: 98,152,155 (GRCm39) |
D152G |
probably benign |
Het |
Bnip3 |
G |
A |
7: 138,499,801 (GRCm39) |
P62L |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,554,357 (GRCm39) |
T684S |
probably damaging |
Het |
Chd3 |
C |
A |
11: 69,248,209 (GRCm39) |
K894N |
possibly damaging |
Het |
Chkb |
T |
A |
15: 89,311,794 (GRCm39) |
R133S |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,507,579 (GRCm39) |
N803S |
probably benign |
Het |
Dync2li1 |
A |
T |
17: 84,956,668 (GRCm39) |
D276V |
possibly damaging |
Het |
Erap1 |
T |
C |
13: 74,822,908 (GRCm39) |
|
probably benign |
Het |
Hgsnat |
C |
T |
8: 26,462,965 (GRCm39) |
V70M |
probably benign |
Het |
Leprot |
T |
C |
4: 101,509,673 (GRCm39) |
|
probably null |
Het |
Lhcgr |
G |
A |
17: 89,057,546 (GRCm39) |
A315V |
probably benign |
Het |
Lrrn4 |
C |
T |
2: 132,712,588 (GRCm39) |
V412I |
probably benign |
Het |
Macrod2 |
G |
A |
2: 140,261,824 (GRCm39) |
|
probably null |
Het |
Mmaa |
G |
A |
8: 80,008,199 (GRCm39) |
R13C |
probably damaging |
Het |
Plpp4 |
T |
A |
7: 128,918,023 (GRCm39) |
I66N |
probably damaging |
Het |
Prl4a1 |
T |
C |
13: 28,205,359 (GRCm39) |
V108A |
probably benign |
Het |
Prss1 |
G |
T |
6: 41,439,553 (GRCm39) |
K95N |
possibly damaging |
Het |
Rasa2 |
C |
T |
9: 96,459,606 (GRCm39) |
|
probably benign |
Het |
Relb |
A |
G |
7: 19,350,336 (GRCm39) |
V208A |
possibly damaging |
Het |
Sema3d |
T |
C |
5: 12,555,806 (GRCm39) |
S178P |
probably damaging |
Het |
Slc18a1 |
A |
T |
8: 69,526,383 (GRCm39) |
W102R |
probably benign |
Het |
Slc39a8 |
A |
C |
3: 135,563,873 (GRCm39) |
K239N |
probably benign |
Het |
Stap1 |
A |
G |
5: 86,229,132 (GRCm39) |
H100R |
probably benign |
Het |
Suz12 |
T |
A |
11: 79,889,918 (GRCm39) |
V143E |
probably damaging |
Het |
Tmf1 |
A |
G |
6: 97,153,455 (GRCm39) |
V206A |
probably benign |
Het |
Trim16 |
T |
A |
11: 62,728,058 (GRCm39) |
|
probably benign |
Het |
Ube2b |
C |
T |
11: 51,891,119 (GRCm39) |
|
probably null |
Het |
Vmn1r223 |
T |
C |
13: 23,434,254 (GRCm39) |
S283P |
probably damaging |
Het |
Wrn |
T |
A |
8: 33,809,173 (GRCm39) |
|
probably benign |
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 |
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 |
|
R9756:Blmh
|
UTSW |
11 |
76,859,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |