Incidental Mutation 'IGL02308:Cmbl'
ID287705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmbl
Ensembl Gene ENSMUSG00000022235
Gene Namecarboxymethylenebutenolidase-like (Pseudomonas)
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02308
Quality Score
Status
Chromosome15
Chromosomal Location31565389-31590119 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 31585408 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 146 (P146Q)
Ref Sequence ENSEMBL: ENSMUSP00000153812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070918] [ENSMUST00000161088] [ENSMUST00000162532] [ENSMUST00000226951]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070918
AA Change: P146Q

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235
AA Change: P146Q

DomainStartEndE-ValueType
Pfam:DLH 30 245 6e-40 PFAM
Pfam:Abhydrolase_5 44 213 1.1e-16 PFAM
Pfam:FSH1 77 214 1.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161088
SMART Domains Protein: ENSMUSP00000125020
Gene: ENSMUSG00000022235

DomainStartEndE-ValueType
Pfam:DLH 30 118 2.7e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162532
AA Change: P134Q

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125296
Gene: ENSMUSG00000022235
AA Change: P134Q

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 26 174 3.2e-11 PFAM
Pfam:DLH 30 174 3e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000226951
AA Change: P146Q

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the medoxomil moiety is linked to an oxygen atom (Ishizuka et al., 2010 [PubMed 20177059]).[supplied by OMIM, Apr 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,202,482 S8F probably damaging Het
Alpk1 T A 3: 127,729,282 Q37L probably damaging Het
Cfap43 T C 19: 47,748,024 T1343A probably benign Het
Cog2 A T 8: 124,533,212 probably null Het
Dgkh C A 14: 78,587,576 V880L probably benign Het
Dopey1 T C 9: 86,520,088 S1114P probably damaging Het
Eif5b T A 1: 38,041,747 V723D probably damaging Het
Gdf11 A G 10: 128,885,384 Y314H probably damaging Het
Gm10110 T C 14: 89,897,595 noncoding transcript Het
Gm960 T C 19: 4,663,555 K132E probably damaging Het
Gria1 G A 11: 57,236,924 V320I probably benign Het
H2-Q10 T A 17: 35,473,566 *326R probably null Het
Irx6 T A 8: 92,677,031 L128Q probably damaging Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Lama5 A G 2: 180,190,327 probably benign Het
Mios A G 6: 8,231,269 I718V probably benign Het
Mroh8 A G 2: 157,254,973 V318A probably damaging Het
Nags A G 11: 102,149,071 *528W probably null Het
Nom1 T A 5: 29,437,710 V403D probably damaging Het
Npffr2 C A 5: 89,583,451 N413K probably benign Het
Olfr394 A T 11: 73,888,295 Y26N probably benign Het
Olfr671 T A 7: 104,975,458 I176F possibly damaging Het
Olr1 C T 6: 129,499,897 R135K possibly damaging Het
Pkhd1 A G 1: 20,070,376 probably null Het
Ptpro A G 6: 137,454,700 M1158V probably benign Het
Sh3d19 A G 3: 86,093,710 K238E probably damaging Het
Smarcc2 G T 10: 128,482,772 R641L probably damaging Het
Th T C 7: 142,898,057 E75G possibly damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ttn G A 2: 76,894,361 R2107* probably null Het
Ubr2 A T 17: 46,934,193 C1636S probably damaging Het
Vmn2r100 T A 17: 19,521,335 I103K possibly damaging Het
Vmn2r88 A G 14: 51,417,980 M558V possibly damaging Het
Zzef1 G A 11: 72,886,747 M1801I probably benign Het
Other mutations in Cmbl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02614:Cmbl APN 15 31589684 missense probably damaging 1.00
IGL02997:Cmbl APN 15 31585344 missense probably benign 0.04
IGL03030:Cmbl APN 15 31589677 splice site probably benign
R0363:Cmbl UTSW 15 31585442 splice site probably null
R0487:Cmbl UTSW 15 31582030 missense probably damaging 1.00
R0605:Cmbl UTSW 15 31585309 missense probably damaging 0.99
R1144:Cmbl UTSW 15 31581874 missense probably benign 0.07
R1732:Cmbl UTSW 15 31588232 missense probably damaging 1.00
R3839:Cmbl UTSW 15 31581998 missense probably damaging 0.99
R3934:Cmbl UTSW 15 31589787 missense possibly damaging 0.94
R4866:Cmbl UTSW 15 31585344 missense probably benign 0.04
R5306:Cmbl UTSW 15 31582069 missense probably damaging 1.00
R6745:Cmbl UTSW 15 31589787 missense possibly damaging 0.94
R7366:Cmbl UTSW 15 31589856 missense probably benign 0.03
R8200:Cmbl UTSW 15 31585393 missense probably benign 0.00
R8394:Cmbl UTSW 15 31585395 missense possibly damaging 0.69
R8867:Cmbl UTSW 15 31581927 missense probably benign
Z1177:Cmbl UTSW 15 31581965 missense probably benign 0.19
Posted On2015-04-16