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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |