Incidental Mutation 'IGL02614:Cmbl'
| ID |
300598 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cmbl
|
| Ensembl Gene |
ENSMUSG00000022235 |
| Gene Name |
carboxymethylenebutenolidase homolog |
| Synonyms |
2310016A09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02614
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
31565535-31590265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 31589830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 187
(V187F)
|
| 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 |
probably damaging
Transcript: ENSMUST00000070918
AA Change: V187F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235
AA Change: V187F
| 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 damaging
Transcript: ENSMUST00000226951
AA Change: V187F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,044,215 (GRCm39) |
|
probably benign |
Het |
| Acadsb |
A |
G |
7: 131,026,357 (GRCm39) |
T67A |
probably benign |
Het |
| Aff2 |
A |
G |
X: 68,907,693 (GRCm39) |
D1225G |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,627,366 (GRCm39) |
D133G |
probably benign |
Het |
| Cacul1 |
A |
T |
19: 60,551,661 (GRCm39) |
M187K |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,637,207 (GRCm39) |
Y263H |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,337,491 (GRCm39) |
N896S |
probably benign |
Het |
| Fbxo27 |
G |
A |
7: 28,396,201 (GRCm39) |
|
probably null |
Het |
| Galnt16 |
T |
C |
12: 80,623,337 (GRCm39) |
S166P |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,832,010 (GRCm39) |
V47A |
probably benign |
Het |
| Gmnn |
A |
G |
13: 24,944,137 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,573,007 (GRCm39) |
I382V |
probably benign |
Het |
| Gpr87 |
C |
A |
3: 59,086,738 (GRCm39) |
V256L |
probably damaging |
Het |
| Il4ra |
C |
A |
7: 125,174,962 (GRCm39) |
S390* |
probably null |
Het |
| Itprid1 |
A |
T |
6: 55,945,262 (GRCm39) |
D661V |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,103,392 (GRCm39) |
|
probably null |
Het |
| Lrriq4 |
A |
T |
3: 30,709,788 (GRCm39) |
L362F |
probably damaging |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,827 (GRCm39) |
N79Y |
probably benign |
Het |
| Nr1i2 |
T |
A |
16: 38,074,118 (GRCm39) |
H165L |
probably damaging |
Het |
| Or10g1b |
T |
C |
14: 52,627,627 (GRCm39) |
E201G |
probably damaging |
Het |
| Phf11a |
T |
A |
14: 59,516,817 (GRCm39) |
T214S |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,987,887 (GRCm39) |
I536K |
possibly damaging |
Het |
| Rpn1 |
T |
A |
6: 88,079,087 (GRCm39) |
I510N |
probably benign |
Het |
| Sall4 |
A |
T |
2: 168,597,805 (GRCm39) |
L20Q |
probably null |
Het |
| Sema3f |
T |
C |
9: 107,559,710 (GRCm39) |
E759G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,311,945 (GRCm39) |
S446P |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,542,331 (GRCm39) |
T31806A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,701,460 (GRCm39) |
|
probably benign |
Het |
| Vac14 |
T |
G |
8: 111,361,750 (GRCm39) |
L214R |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,486,553 (GRCm39) |
K781E |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,387,503 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,610,072 (GRCm39) |
P964S |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation