Incidental Mutation 'R8200:Cmbl'
| ID |
635648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cmbl
|
| Ensembl Gene |
ENSMUSG00000022235 |
| Gene Name |
carboxymethylenebutenolidase homolog |
| Synonyms |
2310016A09Rik |
| MMRRC Submission |
067623-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
31565535-31590265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31585539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 141
(V141A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070918]
[ENSMUST00000161088]
[ENSMUST00000162532]
|
| AlphaFold |
Q8R1G2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070918
AA Change: V141A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235
AA Change: V141A
| 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 benign
Transcript: ENSMUST00000162532
AA Change: V129A
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125296
Gene: ENSMUSG00000022235
AA Change: V129A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_5
|
26 |
174 |
3.2e-11 |
PFAM |
|
Pfam:DLH
|
30 |
174 |
3e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.3%
|
| Validation Efficiency |
100% (38/38) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555G01Rik |
T |
A |
14: 5,052,797 (GRCm38) |
M132K |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,531,162 (GRCm39) |
I431V |
probably benign |
Het |
| Ache |
A |
G |
5: 137,292,457 (GRCm39) |
Q601R |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,558,766 (GRCm39) |
C279* |
probably null |
Het |
| Brms1l |
T |
C |
12: 55,891,183 (GRCm39) |
L79P |
probably damaging |
Het |
| Brpf3 |
C |
T |
17: 29,025,248 (GRCm39) |
A107V |
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,939,368 (GRCm39) |
|
probably null |
Het |
| Ccnb1ip1 |
C |
T |
14: 51,029,750 (GRCm39) |
R104H |
probably benign |
Het |
| Ces1g |
T |
A |
8: 94,055,085 (GRCm39) |
N204I |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,387,630 (GRCm39) |
H69Q |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,905,524 (GRCm39) |
L4113P |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 49,102,595 (GRCm39) |
H220R |
probably damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Gm43218 |
C |
T |
6: 70,217,528 (GRCm39) |
G76E |
probably damaging |
Het |
| Gypa |
A |
T |
8: 81,220,695 (GRCm39) |
T5S |
unknown |
Het |
| Hyal6 |
A |
G |
6: 24,734,565 (GRCm39) |
D166G |
probably benign |
Het |
| Immt |
T |
A |
6: 71,848,421 (GRCm39) |
V470D |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,826 (GRCm39) |
S1167G |
probably benign |
Het |
| Ndufs1 |
A |
T |
1: 63,209,331 (GRCm39) |
|
probably null |
Het |
| Nr1i3 |
C |
A |
1: 171,045,266 (GRCm39) |
H305N |
probably benign |
Het |
| Nucb2 |
T |
C |
7: 116,132,398 (GRCm39) |
|
probably null |
Het |
| Plau |
A |
C |
14: 20,889,181 (GRCm39) |
K130T |
possibly damaging |
Het |
| Ppef2 |
A |
T |
5: 92,393,251 (GRCm39) |
V246E |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,102,337 (GRCm39) |
V2499I |
probably benign |
Het |
| Rnf207 |
C |
T |
4: 152,398,492 (GRCm39) |
|
probably null |
Het |
| Septin9 |
A |
G |
11: 117,123,542 (GRCm39) |
T7A |
probably benign |
Het |
| Sh3bp5l |
T |
C |
11: 58,222,685 (GRCm39) |
I60T |
probably damaging |
Het |
| Taar9 |
A |
G |
10: 23,985,317 (GRCm39) |
L39P |
probably damaging |
Het |
| Tcl1b5 |
A |
T |
12: 105,145,212 (GRCm39) |
M59L |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Thap2 |
A |
T |
10: 115,212,392 (GRCm39) |
F44L |
|
Het |
| Trp53bp1 |
A |
G |
2: 121,066,657 (GRCm39) |
S690P |
probably benign |
Het |
| Ttc9 |
T |
C |
12: 81,707,435 (GRCm39) |
Y165H |
probably damaging |
Het |
| Ttll11 |
A |
G |
2: 35,834,940 (GRCm39) |
I162T |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
| Tuft1 |
A |
T |
3: 94,523,977 (GRCm39) |
D292E |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,930,933 (GRCm39) |
S365G |
probably benign |
Het |
| Ugt2b37 |
G |
A |
5: 87,388,750 (GRCm39) |
Q488* |
probably null |
Het |
| Vmo1 |
A |
G |
11: 70,405,325 (GRCm39) |
V35A |
possibly damaging |
Het |
| Wdr36 |
A |
G |
18: 32,998,979 (GRCm39) |
K875R |
probably benign |
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 |
|
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'- GACATTCCAGTTACCAGCGAC -3'
(R):5'- GAACGGGTGCACATACACATG -3'
Sequencing Primer
(F):5'- AGTTACCAGCGACCCTGAG -3'
(R):5'- CAACCTTGGACATGTTCCTAAGGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation