Incidental Mutation 'R3934:Cmbl'
| ID |
306956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cmbl
|
| Ensembl Gene |
ENSMUSG00000022235 |
| Gene Name |
carboxymethylenebutenolidase homolog |
| Synonyms |
2310016A09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3934 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
31565535-31590265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31589933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 221
(D221G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022842]
[ENSMUST00000070918]
[ENSMUST00000161088]
[ENSMUST00000161266]
[ENSMUST00000162532]
[ENSMUST00000226951]
|
| AlphaFold |
Q8R1G2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022842
|
| SMART Domains |
Protein: ENSMUSP00000022842
Gene: ENSMUSG00000022234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
44 |
537 |
7.7e-160 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070918
AA Change: D221G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235
AA Change: D221G
| 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 |
noncoding transcript
Transcript: ENSMUST00000159449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160174
|
| 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 benign
Transcript: ENSMUST00000161266
|
| SMART Domains |
Protein: ENSMUSP00000125566
Gene: ENSMUSG00000022234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cpn60_TCP1
|
6 |
199 |
5.4e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162532
|
| SMART Domains |
Protein: ENSMUSP00000125296
Gene: ENSMUSG00000022235
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_5
|
26 |
174 |
3.2e-11 |
PFAM |
|
Pfam:DLH
|
30 |
174 |
3e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226951
|
| Meta Mutation Damage Score |
0.2082 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
T |
A |
12: 18,584,082 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,405,432 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,623,166 (GRCm39) |
F3819S |
probably benign |
Het |
| Aig1 |
T |
C |
10: 13,677,656 (GRCm39) |
D112G |
probably damaging |
Het |
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| C2cd5 |
C |
T |
6: 142,987,106 (GRCm39) |
V499I |
possibly damaging |
Het |
| Capn11 |
A |
T |
17: 45,945,213 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,709,317 (GRCm39) |
V766A |
probably benign |
Het |
| Fastk |
G |
T |
5: 24,647,257 (GRCm39) |
S317* |
probably null |
Het |
| Fgfr1op2 |
T |
A |
6: 146,496,669 (GRCm39) |
|
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,458,164 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,270,496 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
A |
T |
7: 4,667,594 (GRCm39) |
M271K |
probably benign |
Het |
| Itgb6 |
G |
A |
2: 60,441,755 (GRCm39) |
T685M |
possibly damaging |
Het |
| Itih5 |
G |
A |
2: 10,250,355 (GRCm39) |
V685I |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,130,901 (GRCm39) |
S421G |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,303,627 (GRCm39) |
T724A |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,061,321 (GRCm39) |
E176G |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,638,143 (GRCm39) |
M192K |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,526,169 (GRCm39) |
I401V |
probably benign |
Het |
| Prpf38b |
T |
C |
3: 108,811,741 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,886,938 (GRCm39) |
S330P |
probably damaging |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,439,174 (GRCm39) |
|
probably benign |
Het |
| Sod3 |
T |
C |
5: 52,525,987 (GRCm39) |
S229P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,149,494 (GRCm39) |
K958N |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,995,708 (GRCm39) |
|
probably null |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,628 (GRCm39) |
D223E |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,532,462 (GRCm39) |
S87T |
probably damaging |
Het |
| Wdr35 |
G |
T |
12: 9,058,014 (GRCm39) |
G513C |
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 |
|
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 |
|
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'- GGAAGCCAGCTCAGTTTACATATTG -3'
(R):5'- TAGCTGGTCCCTGAATTGCC -3'
Sequencing Primer
(F):5'- ACACCTAGGGCTTTGTAGAGACC -3'
(R):5'- GTCCCTGAATTGCCCCCAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation