Incidental Mutation 'R9491:Cmbl'
ID 716949
Institutional Source Beutler Lab
Gene Symbol Cmbl
Ensembl Gene ENSMUSG00000022235
Gene Name carboxymethylenebutenolidase homolog
Synonyms 2310016A09Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9491 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 31565535-31590265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31582119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 39 (V39L)
Ref Sequence ENSEMBL: ENSMUSP00000070314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070918] [ENSMUST00000161088] [ENSMUST00000162532] [ENSMUST00000226951]
AlphaFold Q8R1G2
Predicted Effect probably benign
Transcript: ENSMUST00000070918
AA Change: V39L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235
AA Change: V39L

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
AA Change: V39L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000125020
Gene: ENSMUSG00000022235
AA Change: V39L

DomainStartEndE-ValueType
Pfam:DLH 30 118 2.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162532
AA Change: V39L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000125296
Gene: ENSMUSG00000022235
AA Change: V39L

DomainStartEndE-ValueType
Pfam:Abhydrolase_5 26 174 3.2e-11 PFAM
Pfam:DLH 30 174 3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226951
AA Change: V39L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 G A 9: 106,312,994 (GRCm39) T142I probably damaging Het
Adcy9 T C 16: 4,236,052 (GRCm39) E453G probably damaging Het
Ank3 A C 10: 69,838,339 (GRCm39) probably null Het
Asmt G A X: 169,108,405 (GRCm39) G103D possibly damaging Het
Cap2 C T 13: 46,791,366 (GRCm39) P290S possibly damaging Het
Cfap43 A T 19: 47,800,505 (GRCm39) probably null Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Clstn1 T C 4: 149,731,929 (GRCm39) S950P probably damaging Het
Cluap1 G A 16: 3,758,732 (GRCm39) R398Q probably benign Het
Dapk1 A G 13: 60,877,369 (GRCm39) D536G probably benign Het
Ddx3y T A Y: 1,279,465 (GRCm39) D133V probably benign Het
Duox1 T A 2: 122,156,907 (GRCm39) S525T probably benign Het
Eif2s2 T C 2: 154,734,630 (GRCm39) probably benign Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Gadd45a A T 6: 67,012,730 (GRCm39) D137E probably benign Het
Gmppa A G 1: 75,415,602 (GRCm39) D120G probably damaging Het
Gpr156 A T 16: 37,825,704 (GRCm39) R640S probably benign Het
Grik1 A T 16: 87,746,995 (GRCm39) M414K Het
Gtse1 C T 15: 85,755,734 (GRCm39) P466L probably damaging Het
H6pd T A 4: 150,080,366 (GRCm39) N160Y probably benign Het
Hectd4 T G 5: 121,452,981 (GRCm39) L496R probably damaging Het
Hnrnpk G T 13: 58,541,050 (GRCm39) Q441K probably benign Het
Incenp T C 19: 9,854,141 (GRCm39) K637E unknown Het
Irgc C T 7: 24,132,349 (GRCm39) R156H probably benign Het
Kazn C T 4: 141,845,436 (GRCm39) A383T Het
Lmln A G 16: 32,890,358 (GRCm39) E169G possibly damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mdfic T A 6: 15,799,852 (GRCm39) C326* probably null Het
Ncoa1 T A 12: 4,340,912 (GRCm39) D840V probably benign Het
Nkd1 A G 8: 89,300,875 (GRCm39) D81G probably benign Het
Or5an1c T C 19: 12,218,606 (GRCm39) T140A probably benign Het
Or8c10 T C 9: 38,278,971 (GRCm39) V33A possibly damaging Het
Parp4 G A 14: 56,832,828 (GRCm39) E384K probably damaging Het
Pcdhgb4 T A 18: 37,854,895 (GRCm39) L430H probably damaging Het
Pdgfrb A G 18: 61,212,056 (GRCm39) Y861C probably damaging Het
Pheta1 G A 5: 121,991,051 (GRCm39) A138T probably benign Het
Pipox T A 11: 77,772,359 (GRCm39) Y337F probably benign Het
Prcc A G 3: 87,774,671 (GRCm39) V377A probably benign Het
Prrg2 T A 7: 44,706,218 (GRCm39) Y133F probably damaging Het
Ptchd3 T C 11: 121,733,813 (GRCm39) V901A probably damaging Het
Rgl1 A G 1: 152,424,869 (GRCm39) L335P probably damaging Het
Setx T A 2: 29,037,835 (GRCm39) M1440K probably benign Het
Smchd1 A G 17: 71,667,020 (GRCm39) probably null Het
Tbpl2 T C 2: 23,986,532 (GRCm39) I6V probably benign Het
Tdrd12 T A 7: 35,188,689 (GRCm39) H516L Het
Tmem8b C T 4: 43,673,938 (GRCm39) R190C probably damaging Het
Tpmt A T 13: 47,180,752 (GRCm39) S196T probably benign Het
Trp63 A G 16: 25,695,472 (GRCm39) N478S unknown Het
Vstm5 T G 9: 15,168,586 (GRCm39) I50S probably damaging Het
Wdhd1 A T 14: 47,505,616 (GRCm39) C285* probably null Het
Zdhhc23 A C 16: 43,794,062 (GRCm39) V204G probably benign Het
Zfp653 T A 9: 21,969,622 (GRCm39) K215* probably null 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
R8394:Cmbl UTSW 15 31,585,541 (GRCm39) missense possibly damaging 0.69
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
Z1177:Cmbl UTSW 15 31,582,111 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TTAGCCATCACACCACTGAG -3'
(R):5'- ATTTGCCTTTCTGAAGCAGAC -3'

Sequencing Primer
(F):5'- AAGCTAACCCTTGCCCAT -3'
(R):5'- TGCCTTTCTGAAGCAGACCAAATG -3'
Posted On 2022-07-18