Mutagenetix > Incidental Mutation

Incidental Mutation 'R5306:Cmbl'

404593

Institutional Source

Beutler Lab

Gene Symbol

Cmbl

Ensembl Gene

ENSMUSG00000022235

Gene Name

carboxymethylenebutenolidase homolog

Synonyms

2310016A09Rik

MMRRC Submission

042889-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31565535-31590265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31582215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 71 (Y71H)

Ref Sequence

ENSEMBL: ENSMUSP00000153812 (fasta)

Gene Model

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

AlphaFold

Q8R1G2

Predicted Effect

probably damaging
Transcript: ENSMUST00000070918
AA Change: Y71H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235
AA Change: Y71H

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 damaging
Transcript: ENSMUST00000161088
AA Change: Y71H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125020
Gene: ENSMUSG00000022235
AA Change: Y71H

Domain	Start	End	E-Value	Type
Pfam:DLH	30	118	2.7e-13	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: Y71H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.8821

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (64/66)

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
Adam29	T	A	8: 56,324,792 (GRCm39)	D554V	probably damaging	Het
Ankrd44	G	A	1: 54,965,362 (GRCm39)		probably benign	Het
Api5	A	T	2: 94,253,811 (GRCm39)	C297*	probably null	Het
Asb14	G	A	14: 26,633,866 (GRCm39)	C357Y	probably damaging	Het
Brd10	A	G	19: 29,707,230 (GRCm39)		probably benign	Het
Brdt	T	A	5: 107,493,010 (GRCm39)	D112E	probably damaging	Het
Capsl	C	A	15: 9,457,876 (GRCm39)	Q32K	probably benign	Het
Ccdc106	A	G	7: 5,061,096 (GRCm39)	D81G	probably damaging	Het
Ccdc121rt3	T	C	5: 112,502,910 (GRCm39)	R265G	probably benign	Het
Cep104	C	A	4: 154,090,699 (GRCm39)	T884K	probably benign	Het
Crybg3	A	T	16: 59,380,356 (GRCm39)		probably benign	Het
Dynlt1c	T	C	17: 6,869,210 (GRCm39)	M1T	probably null	Het
Erbb2	T	C	11: 98,319,032 (GRCm39)	S574P	probably benign	Het
Exosc10	T	C	4: 148,646,849 (GRCm39)	V153A	probably benign	Het
Faxc	G	T	4: 21,931,557 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,791,243 (GRCm39)	T835A	probably damaging	Het
Fmo5	G	T	3: 97,549,076 (GRCm39)	M241I	probably benign	Het
Gabra1	A	C	11: 42,024,379 (GRCm39)	I432S	probably benign	Het
Gfap	A	G	11: 102,786,574 (GRCm39)		probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12185	T	A	11: 48,806,382 (GRCm39)	M270L	probably benign	Het
Gm14443	T	C	2: 175,011,372 (GRCm39)	N358S	possibly damaging	Het
Gpr3	C	T	4: 132,938,490 (GRCm39)	V61M	probably damaging	Het
Herc2	C	T	7: 55,834,709 (GRCm39)	T3229M	probably damaging	Het
Ifit3	A	G	19: 34,565,207 (GRCm39)	Y251C	probably damaging	Het
Inf2	G	A	12: 112,567,987 (GRCm39)	V180I	probably benign	Het
Ints11	T	C	4: 155,959,665 (GRCm39)	Y91H	probably damaging	Het
Ints4	A	C	7: 97,158,885 (GRCm39)	D419A	probably damaging	Het
Kmt2e	T	C	5: 23,704,331 (GRCm39)	S1175P	probably damaging	Het
Mki67	A	T	7: 135,315,730 (GRCm39)	V44E	probably damaging	Het
Mrgprb13	A	T	7: 47,961,940 (GRCm39)		noncoding transcript	Het
Myh2	T	C	11: 67,077,382 (GRCm39)	L839P	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or4l1	A	G	14: 50,167,007 (GRCm39)		probably benign	Het
Or6c70	A	C	10: 129,709,810 (GRCm39)	I272R	probably damaging	Het
Pced1a	T	A	2: 130,261,091 (GRCm39)	H422L	probably benign	Het
Plpp1	G	T	13: 112,988,089 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,183,056 (GRCm39)	Y949C	probably damaging	Het
Polg2	G	A	11: 106,669,796 (GRCm39)	T158I	probably damaging	Het
Prss38	A	T	11: 59,263,821 (GRCm39)	I297K	probably benign	Het
Psph	A	G	5: 129,846,431 (GRCm39)	L98P	probably damaging	Het
Rab11b	G	A	17: 33,979,243 (GRCm39)		probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Serpine3	G	A	14: 62,908,382 (GRCm39)	A137T	probably damaging	Het
Sh3bp4	T	C	1: 89,071,997 (GRCm39)	F282L	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Slco2b1	T	A	7: 99,338,198 (GRCm39)	Y109F	possibly damaging	Het
Slfn10-ps	T	A	11: 82,926,355 (GRCm39)		noncoding transcript	Het
Smc5	A	G	19: 23,237,009 (GRCm39)		probably null	Het
Smyd4	A	G	11: 75,292,984 (GRCm39)	N638S	probably benign	Het
Stxbp5	T	C	10: 9,675,735 (GRCm39)	E628G	probably damaging	Het
Tmem236	A	T	2: 14,223,975 (GRCm39)	K255*	probably null	Het
Ttc29	T	A	8: 78,978,539 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,087,222 (GRCm39)	I430T	probably damaging	Het
Uckl1	A	G	2: 181,216,160 (GRCm39)		probably null	Het
Vmn2r52	A	C	7: 9,904,672 (GRCm39)	I389R	possibly damaging	Het
Wdr62	A	T	7: 29,964,688 (GRCm39)	F352Y	possibly damaging	Het
Wdr70	T	C	15: 7,953,754 (GRCm39)	D379G	probably benign	Het
Zfp408	T	A	2: 91,476,690 (GRCm39)	M155L	probably benign	Het
Zfp459	T	A	13: 67,561,249 (GRCm39)	Q66H	probably damaging	Het
Zfp870	C	A	17: 33,102,627 (GRCm39)	G234V	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
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'- TGACGTCAAGACCCCAATGG -3'
(R):5'- AATTTCAAAGGACAGTTCCCAC -3'

Sequencing Primer
(F):5'- GAAGCTAACCCTTGCCCATGTG -3'
(R):5'- TTCAAAGGACAGTTCCCACATCCC -3'

Posted On

2016-07-22