Incidental Mutation 'R6745:Cmbl'
| ID |
530550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cmbl
|
| Ensembl Gene |
ENSMUSG00000022235 |
| Gene Name |
carboxymethylenebutenolidase homolog |
| Synonyms |
2310016A09Rik |
| MMRRC Submission |
044862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6745 (G1)
|
| Quality Score |
225.009 |
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
G |
T |
10: 10,265,941 (GRCm39) |
T1040K |
probably damaging |
Het |
| Adgrf3 |
A |
G |
5: 30,408,601 (GRCm39) |
V59A |
probably benign |
Het |
| Ankk1 |
G |
T |
9: 49,327,480 (GRCm39) |
H566Q |
probably benign |
Het |
| Avil |
A |
C |
10: 126,849,988 (GRCm39) |
D613A |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,582,132 (GRCm39) |
N613S |
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,607,429 (GRCm39) |
T326A |
probably benign |
Het |
| Clasp2 |
A |
T |
9: 113,704,338 (GRCm39) |
R558* |
probably null |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
A |
T |
6: 53,581,517 (GRCm39) |
M172L |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,372,607 (GRCm39) |
V2291A |
possibly damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,513,604 (GRCm39) |
V181G |
probably damaging |
Het |
| Dclk1 |
T |
A |
3: 55,385,229 (GRCm39) |
S40T |
probably damaging |
Het |
| Dnah10 |
G |
T |
5: 124,885,876 (GRCm39) |
M3053I |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,428,383 (GRCm39) |
I268K |
probably damaging |
Het |
| Dock2 |
C |
G |
11: 34,596,669 (GRCm39) |
D396H |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,596,670 (GRCm39) |
K395N |
probably damaging |
Het |
| Gpbp1 |
G |
A |
13: 111,589,919 (GRCm39) |
R59C |
probably benign |
Het |
| Ifi47 |
T |
G |
11: 48,986,329 (GRCm39) |
I32S |
probably benign |
Het |
| Ighg3 |
A |
G |
12: 113,323,890 (GRCm39) |
V166A |
unknown |
Het |
| Katnip |
T |
C |
7: 125,369,822 (GRCm39) |
S137P |
probably benign |
Het |
| Kdm5d |
T |
A |
Y: 927,112 (GRCm39) |
C617S |
probably benign |
Homo |
| Kif20b |
T |
G |
19: 34,906,276 (GRCm39) |
S55A |
possibly damaging |
Het |
| Klhl1 |
C |
T |
14: 96,517,438 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
C |
T |
7: 139,500,892 (GRCm39) |
T727I |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,922,749 (GRCm39) |
I298N |
probably damaging |
Het |
| Ly75 |
C |
A |
2: 60,138,523 (GRCm39) |
R1448L |
probably damaging |
Het |
| Mup4 |
C |
T |
4: 59,960,091 (GRCm39) |
V58M |
possibly damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,026,526 (GRCm39) |
F467S |
probably damaging |
Het |
| Or14j9 |
T |
A |
17: 37,874,470 (GRCm39) |
H244L |
probably damaging |
Het |
| Pla2g4a |
G |
T |
1: 149,761,981 (GRCm39) |
Q151K |
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 22,167,868 (GRCm39) |
Q713L |
probably benign |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,080 (GRCm39) |
S210T |
probably damaging |
Het |
| Prb1a |
T |
C |
6: 132,186,383 (GRCm39) |
|
probably null |
Het |
| Pyroxd2 |
T |
C |
19: 42,735,799 (GRCm39) |
D101G |
probably damaging |
Het |
| Ranbp3 |
A |
G |
17: 57,016,308 (GRCm39) |
D359G |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,698,063 (GRCm39) |
I531F |
probably benign |
Het |
| Serpina1b |
T |
C |
12: 103,696,614 (GRCm39) |
N265S |
possibly damaging |
Het |
| Slc51b |
T |
C |
9: 65,320,212 (GRCm39) |
E85G |
possibly damaging |
Het |
| Stk32c |
T |
A |
7: 138,702,809 (GRCm39) |
R195W |
probably damaging |
Het |
| Uggt2 |
T |
C |
14: 119,280,022 (GRCm39) |
T819A |
possibly damaging |
Het |
| Ugt1a9 |
A |
T |
1: 87,998,898 (GRCm39) |
E116V |
probably benign |
Het |
| Zswim5 |
C |
G |
4: 116,832,401 (GRCm39) |
P543A |
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 |
|
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'- GAAGCCAGCTCAGTTTACATATTGAG -3'
(R):5'- TAGCTGGTCCCTGAATTGCC -3'
Sequencing Primer
(F):5'- ACACCTAGGGCTTTGTAGAGACC -3'
(R):5'- GTCCCTGAATTGCCCCCAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation