Mutagenetix > Incidental Mutations

Incidental Mutation 'R1144:Cmbl'

102321

Institutional Source

Beutler Lab

Gene Symbol

Cmbl

Ensembl Gene

ENSMUSG00000022235

Gene Name

carboxymethylenebutenolidase-like (Pseudomonas)

Synonyms

MMRRC Submission

039217-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1144 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31565389-31590119 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31581874 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 6 (N6D)

Ref Sequence

ENSEMBL: ENSMUSP00000125296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070918] [ENSMUST00000161088] [ENSMUST00000162532] [ENSMUST00000226951]

AlphaFold

Q8R1G2

Predicted Effect

probably benign
Transcript: ENSMUST00000070918
AA Change: N6D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235
AA Change: N6D

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
AA Change: N6D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125020
Gene: ENSMUSG00000022235
AA Change: N6D

Domain	Start	End	E-Value	Type
Pfam:DLH	30	118	2.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162532
AA Change: N6D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125296
Gene: ENSMUSG00000022235
AA Change: N6D

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
AA Change: N6D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 120,360,860		probably benign	Het
Abcc5	A	T	16: 20,422,438		probably benign	Het
Acsl5	A	C	19: 55,291,843	D516A	probably damaging	Het
Adcy1	G	A	11: 7,137,400	A425T	probably damaging	Het
Aebp1	A	G	11: 5,868,475	T107A	probably benign	Het
Arhgef33	T	C	17: 80,355,044	S219P	probably benign	Het
Atm	T	G	9: 53,511,698		probably benign	Het
C1ql2	A	C	1: 120,342,537	Y276S	probably damaging	Het
Cacna2d1	T	C	5: 16,322,597		probably null	Het
Cntn3	A	G	6: 102,242,126	V511A	possibly damaging	Het
Coq9	C	A	8: 94,842,623	R28S	probably benign	Het
Creld1	T	C	6: 113,483,961	F20S	probably benign	Het
Dcstamp	A	G	15: 39,760,368	K404E	possibly damaging	Het
Dip2b	T	A	15: 100,154,250	I244K	probably benign	Het
Dnhd1	G	A	7: 105,713,031	E3700K	probably damaging	Het
Dnmt3l	T	A	10: 78,051,905	C110S	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fgfr1	T	G	8: 25,558,143	V172G	probably damaging	Het
Frem3	C	A	8: 80,611,884	Q269K	probably benign	Het
Frmd6	C	A	12: 70,877,168	H67N	probably damaging	Het
Fry	A	G	5: 150,418,464	T1532A	possibly damaging	Het
Git2	G	T	5: 114,753,314	S243R	probably benign	Het
Grid1	A	G	14: 35,562,676		probably benign	Het
Grp	A	G	18: 65,879,970	D69G	probably damaging	Het
Hmbox1	A	T	14: 64,825,683	L347Q	probably damaging	Het
Hrasls5	A	G	19: 7,613,330	D74G	probably benign	Het
Hsh2d	C	T	8: 72,193,592		probably benign	Het
Itpr3	G	A	17: 27,114,923	S2018N	probably benign	Het
Kif13b	T	A	14: 64,714,117	V69D	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lmcd1	T	A	6: 112,310,751		probably benign	Het
Megf9	C	A	4: 70,534,624	A67S	probably benign	Het
Myo5b	G	A	18: 74,625,587	R213H	probably damaging	Het
Myo5c	T	A	9: 75,286,448	Y1162N	probably damaging	Het
Nphs1	A	G	7: 30,481,678		probably benign	Het
Ntrk1	G	A	3: 87,781,542	T568I	probably damaging	Het
Pcmtd1	A	G	1: 7,120,481	H58R	probably damaging	Het
Plxna4	A	T	6: 32,197,156	I1168N	possibly damaging	Het
Ppm1h	A	G	10: 122,941,278	D483G	probably benign	Het
Prdm15	G	A	16: 97,808,708	R579C	probably damaging	Het
Prickle1	T	A	15: 93,512,461	R41W	probably damaging	Het
Rbm19	A	G	5: 120,123,016	D235G	possibly damaging	Het
Smco2	A	G	6: 146,871,140		probably benign	Het
Sned1	G	C	1: 93,280,576	G785R	probably damaging	Het
Stat4	A	G	1: 52,084,129		probably benign	Het
Syne2	T	A	12: 75,966,524	F2830I	probably benign	Het
Tbc1d9	A	G	8: 83,236,571	D304G	possibly damaging	Het
Thsd7a	G	A	6: 12,471,027		probably benign	Het
Tmem63b	T	A	17: 45,666,427	K383N	probably benign	Het
Trp53rka	C	A	2: 165,493,041		probably benign	Het
Trub1	G	A	19: 57,485,131	V207M	probably benign	Het
Ulk2	A	T	11: 61,800,060	C551S	possibly damaging	Het
Urb1	A	T	16: 90,776,318		probably null	Het
Vmn1r219	C	A	13: 23,163,213	Q191K	probably damaging	Het
Vmn2r1	A	T	3: 64,090,120	D399V	probably damaging	Het
Vmn2r87	A	G	10: 130,476,229		probably benign	Het
Wars	A	T	12: 108,888,365	L41*	probably null	Het
Washc2	G	A	6: 116,224,534	E64K	probably damaging	Het
Washc4	G	A	10: 83,580,330	R828Q	probably damaging	Het
Wdr59	A	T	8: 111,486,944	M313K	probably benign	Het
Wscd2	G	A	5: 113,561,090		probably null	Het
Zdhhc20	A	C	14: 57,856,678	L176V	probably benign	Het

Other mutations in Cmbl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02308:Cmbl	APN	15	31585408	missense	possibly damaging	0.93
IGL02614:Cmbl	APN	15	31589684	missense	probably damaging	1.00
IGL02997:Cmbl	APN	15	31585344	missense	probably benign	0.04
IGL03030:Cmbl	APN	15	31589677	splice site	probably benign
R0363:Cmbl	UTSW	15	31585442	splice site	probably null
R0487:Cmbl	UTSW	15	31582030	missense	probably damaging	1.00
R0605:Cmbl	UTSW	15	31585309	missense	probably damaging	0.99
R1732:Cmbl	UTSW	15	31588232	missense	probably damaging	1.00
R3839:Cmbl	UTSW	15	31581998	missense	probably damaging	0.99
R3934:Cmbl	UTSW	15	31589787	missense	possibly damaging	0.94
R4866:Cmbl	UTSW	15	31585344	missense	probably benign	0.04
R5306:Cmbl	UTSW	15	31582069	missense	probably damaging	1.00
R6745:Cmbl	UTSW	15	31589787	missense	possibly damaging	0.94
R7366:Cmbl	UTSW	15	31589856	missense	probably benign	0.03
R8200:Cmbl	UTSW	15	31585393	missense	probably benign	0.00
R8394:Cmbl	UTSW	15	31585395	missense	possibly damaging	0.69
R8867:Cmbl	UTSW	15	31581927	missense	probably benign
R9072:Cmbl	UTSW	15	31585303	missense	possibly damaging	0.63
R9456:Cmbl	UTSW	15	31589802	missense	probably damaging	1.00
Z1177:Cmbl	UTSW	15	31581965	missense	probably benign	0.19

Predicted Primers

Posted On

2014-01-15