Incidental Mutation 'R8394:Cmbl'
ID 647541
Institutional Source Beutler Lab
Gene Symbol Cmbl
Ensembl Gene ENSMUSG00000022235
Gene Name carboxymethylenebutenolidase homolog
Synonyms 2310016A09Rik
MMRRC Submission 067758-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8394 (G1)
Quality Score 214.009
Status Not validated
Chromosome 15
Chromosomal Location 31565535-31590265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31585541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 142 (M142V)
Ref Sequence ENSEMBL: ENSMUSP00000070314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070918] [ENSMUST00000161088] [ENSMUST00000162532] [ENSMUST00000226951]
AlphaFold Q8R1G2
Predicted Effect possibly damaging
Transcript: ENSMUST00000070918
AA Change: M142V

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235
AA Change: M142V

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 probably damaging
Transcript: ENSMUST00000162532
AA Change: M130V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125296
Gene: ENSMUSG00000022235
AA Change: M130V

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: M142V

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T C 14: 59,379,623 (GRCm39) N137S probably benign Het
4930505A04Rik T A 11: 30,404,880 (GRCm39) probably null Het
Abcc8 A G 7: 45,803,977 (GRCm39) I399T probably benign Het
Aldh3b2 A C 19: 4,029,461 (GRCm39) Q278P probably benign Het
Arl8b A G 6: 108,760,244 (GRCm39) D10G possibly damaging Het
Baiap3 T C 17: 25,469,096 (GRCm39) N229S probably benign Het
Chrdl2 T C 7: 99,666,292 (GRCm39) S71P possibly damaging Het
Cpt1b A G 15: 89,306,490 (GRCm39) probably null Het
Crybg3 T C 16: 59,378,651 (GRCm39) K868E probably benign Het
Efl1 A G 7: 82,411,986 (GRCm39) I792V probably benign Het
Evx2 A G 2: 74,486,321 (GRCm39) L356S probably benign Het
Hspa14 C T 2: 3,513,670 (GRCm39) probably null Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Il7r A G 15: 9,516,504 (GRCm39) F99S probably damaging Het
Klra2 A T 6: 131,222,273 (GRCm39) V6D possibly damaging Het
Lce3c T C 3: 92,852,760 (GRCm39) S74P unknown Het
Nectin2 C T 7: 19,467,137 (GRCm39) probably null Het
Nfil3 A G 13: 53,121,849 (GRCm39) S352P probably benign Het
Nme6 T A 9: 109,664,394 (GRCm39) M1K probably null Het
Or52z13 A T 7: 103,247,404 (GRCm39) I294F probably damaging Het
Otogl A G 10: 107,722,326 (GRCm39) probably null Het
Plcb1 T C 2: 135,159,710 (GRCm39) V391A probably damaging Het
Ptf1a T A 2: 19,450,746 (GRCm39) D25E probably damaging Het
Ralbp1 C T 17: 66,159,748 (GRCm39) R505H probably benign Het
Scube1 T C 15: 83,492,492 (GRCm39) Y944C probably damaging Het
Sdk2 A G 11: 113,729,542 (GRCm39) I1039T probably benign Het
Senp7 G T 16: 55,990,190 (GRCm39) W646L possibly damaging Het
Sphkap A T 1: 83,253,797 (GRCm39) N1317K probably benign Het
Strc G T 2: 121,209,490 (GRCm39) Q278K probably benign Het
Tbc1d30 T A 10: 121,183,013 (GRCm39) R142* probably null Het
Tmtc3 T C 10: 100,282,808 (GRCm39) I916V probably damaging Het
Tomm40l A T 1: 171,048,776 (GRCm39) H79Q probably damaging Het
Txndc12 T A 4: 108,713,420 (GRCm39) probably null Het
Vmn2r2 T C 3: 64,044,858 (GRCm39) N96S probably damaging Het
Vmn2r27 T C 6: 124,168,776 (GRCm39) T785A possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp462 A G 4: 55,011,862 (GRCm39) D1276G probably damaging Het
Other mutations in Cmbl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02308:Cmbl APN 15 31,585,554 (GRCm39) missense possibly damaging 0.93
IGL02614:Cmbl APN 15 31,589,830 (GRCm39) missense probably damaging 1.00
IGL02997:Cmbl APN 15 31,585,490 (GRCm39) missense probably benign 0.04
IGL03030:Cmbl APN 15 31,589,823 (GRCm39) splice site probably benign
R0363:Cmbl UTSW 15 31,585,588 (GRCm39) splice site probably null
R0487:Cmbl UTSW 15 31,582,176 (GRCm39) missense probably damaging 1.00
R0605:Cmbl UTSW 15 31,585,455 (GRCm39) missense probably damaging 0.99
R1144:Cmbl UTSW 15 31,582,020 (GRCm39) missense probably benign 0.07
R1732:Cmbl UTSW 15 31,588,378 (GRCm39) missense probably damaging 1.00
R3839:Cmbl UTSW 15 31,582,144 (GRCm39) missense probably damaging 0.99
R3934:Cmbl UTSW 15 31,589,933 (GRCm39) missense possibly damaging 0.94
R4866:Cmbl UTSW 15 31,585,490 (GRCm39) missense probably benign 0.04
R5306:Cmbl UTSW 15 31,582,215 (GRCm39) missense probably damaging 1.00
R6745:Cmbl UTSW 15 31,589,933 (GRCm39) missense possibly damaging 0.94
R7366:Cmbl UTSW 15 31,590,002 (GRCm39) missense probably benign 0.03
R8200:Cmbl UTSW 15 31,585,539 (GRCm39) missense probably benign 0.00
R8867:Cmbl UTSW 15 31,582,073 (GRCm39) missense probably benign
R9072:Cmbl UTSW 15 31,585,449 (GRCm39) missense possibly damaging 0.63
R9456:Cmbl UTSW 15 31,589,948 (GRCm39) missense probably damaging 1.00
R9491:Cmbl UTSW 15 31,582,119 (GRCm39) missense probably benign 0.02
Z1177:Cmbl UTSW 15 31,582,111 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- ATTCCAGTTACCAGCGACC -3'
(R):5'- GAACGGGTGCACATACACATG -3'

Sequencing Primer
(F):5'- AGTTACCAGCGACCCTGAG -3'
(R):5'- CAACCTTGGACATGTTCCTAAGGG -3'
Posted On 2020-09-02