Mutagenetix > Incidental Mutation

Incidental Mutation 'R0487:Cmbl'

42372

Institutional Source

Beutler Lab

Gene Symbol

Cmbl

Ensembl Gene

ENSMUSG00000022235

Gene Name

carboxymethylenebutenolidase homolog

Synonyms

2310016A09Rik

MMRRC Submission

038686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31565535-31590265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31582176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 58 (N58D)

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: N58D

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235
AA Change: N58D

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

possibly damaging
Transcript: ENSMUST00000161088
AA Change: N58D

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125020
Gene: ENSMUSG00000022235
AA Change: N58D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162532
AA Change: N58D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125296
Gene: ENSMUSG00000022235
AA Change: N58D

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	26	174	3.2e-11	PFAM
Pfam:DLH	30	174	3e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226951
AA Change: N58D

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,281,687 (GRCm39)	M3190L	probably benign	Het
Adgrv1	A	T	13: 81,637,154 (GRCm39)	L3429H	probably damaging	Het
Ahnak	A	G	19: 8,991,484 (GRCm39)	D4256G	probably damaging	Het
Ahnak	A	G	19: 8,984,515 (GRCm39)	N1933S	probably benign	Het
Amacr	A	G	15: 10,984,835 (GRCm39)	D151G	probably benign	Het
Ano9	A	T	7: 140,687,762 (GRCm39)	H255Q	possibly damaging	Het
Asphd2	A	T	5: 112,539,501 (GRCm39)	Y111N	possibly damaging	Het
Cage1	T	A	13: 38,209,334 (GRCm39)	K214N	probably benign	Het
Cdkn2c	A	G	4: 109,518,606 (GRCm39)	L116P	probably damaging	Het
Cltc	C	T	11: 86,624,490 (GRCm39)	R148H	probably damaging	Het
Cpa6	T	C	1: 10,479,487 (GRCm39)	T249A	possibly damaging	Het
Cpsf1	T	A	15: 76,481,202 (GRCm39)	N1218I	probably damaging	Het
Csf2rb	T	C	15: 78,232,531 (GRCm39)	S613P	probably benign	Het
Ctnnd1	A	G	2: 84,439,411 (GRCm39)	S761P	probably damaging	Het
Cxcr6	A	C	9: 123,639,463 (GRCm39)	I155L	probably benign	Het
Ecpas	A	G	4: 58,819,155 (GRCm39)	V1265A	probably damaging	Het
Fam216a	A	G	5: 122,508,576 (GRCm39)		probably null	Het
Fgf10	T	A	13: 118,918,147 (GRCm39)		probably null	Het
Fgf17	T	C	14: 70,875,996 (GRCm39)	T79A	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gm1527	G	T	3: 28,980,828 (GRCm39)	V643L	probably benign	Het
Hmcn2	A	T	2: 31,276,689 (GRCm39)	Q1556L	possibly damaging	Het
Hspa4l	C	T	3: 40,738,758 (GRCm39)	T616I	possibly damaging	Het
Irag2	A	G	6: 145,110,986 (GRCm39)	S264G	probably benign	Het
Irgm1	T	C	11: 48,757,154 (GRCm39)	D219G	probably damaging	Het
Jcad	A	G	18: 4,673,243 (GRCm39)	D335G	probably damaging	Het
Kcnh4	A	G	11: 100,641,084 (GRCm39)	F455S	probably damaging	Het
Khdrbs3	T	C	15: 68,889,210 (GRCm39)	Y120H	probably damaging	Het
Kndc1	A	T	7: 139,493,939 (GRCm39)	T507S	probably null	Het
Lepr	G	T	4: 101,625,290 (GRCm39)	E482*	probably null	Het
Mcemp1	T	A	8: 3,717,507 (GRCm39)	M146K	probably benign	Het
Mllt10	A	G	2: 18,211,948 (GRCm39)	T411A	probably damaging	Het
Myh8	A	T	11: 67,192,837 (GRCm39)	I1543L	probably benign	Het
Myo1f	T	C	17: 33,797,258 (GRCm39)	S147P	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Or5j1	C	T	2: 86,878,837 (GRCm39)	V248I	probably damaging	Het
Plaat1	G	A	16: 29,039,331 (GRCm39)		probably null	Het
Plch2	G	A	4: 155,093,469 (GRCm39)	R57C	probably damaging	Het
Rbm20	G	A	19: 53,839,626 (GRCm39)	G872R	probably damaging	Het
Retsat	A	T	6: 72,583,414 (GRCm39)	I373F	probably damaging	Het
Rnf145	T	C	11: 44,446,056 (GRCm39)	F297L	probably benign	Het
Ros1	A	T	10: 52,031,204 (GRCm39)	M479K	possibly damaging	Het
Rubcnl	T	A	14: 75,273,521 (GRCm39)	N244K	probably benign	Het
Samhd1	A	G	2: 156,952,535 (GRCm39)	F406L	probably damaging	Het
Sdsl	A	T	5: 120,597,533 (GRCm39)	V258D	probably damaging	Het
Sec24c	C	G	14: 20,733,467 (GRCm39)	P166A	probably benign	Het
Sele	C	A	1: 163,881,184 (GRCm39)	Y461*	probably null	Het
Slc22a1	G	T	17: 12,881,487 (GRCm39)	S334*	probably null	Het
Spem1	T	G	11: 69,712,691 (GRCm39)		probably null	Het
Stat3	T	C	11: 100,794,469 (GRCm39)	E280G	probably damaging	Het
Stxbp4	T	C	11: 90,483,186 (GRCm39)	H280R	probably benign	Het
Tas2r129	G	A	6: 132,928,906 (GRCm39)	C281Y	probably benign	Het
Tas2r129	T	G	6: 132,928,907 (GRCm39)	C281W	probably benign	Het
Tcp11	T	A	17: 28,298,897 (GRCm39)		probably null	Het
Tnrc6b	G	A	15: 80,764,876 (GRCm39)	V793M	probably benign	Het
Vmn2r59	A	C	7: 41,696,528 (GRCm39)	Y71*	probably null	Het
Wdr35	T	C	12: 9,062,743 (GRCm39)		probably null	Het
Zan	A	G	5: 137,411,620 (GRCm39)		probably null	Het
Zap70	G	T	1: 36,818,365 (GRCm39)	V351L	probably damaging	Het
Zfp609	G	T	9: 65,609,916 (GRCm39)	Q1016K	unknown	Het
Zfp641	C	A	15: 98,187,060 (GRCm39)	V188L	probably benign	Het
Zpld2	A	T	4: 133,930,089 (GRCm39)	L72Q	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
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

Predicted Primers

PCR Primer
(F):5'- GTCAAGACCCCAATGGCTAACGAAG -3'
(R):5'- ACGGTAATATCCATCCCTCCCAGG -3'

Sequencing Primer
(F):5'- TGGCTAACGAAGCTAACCCTTG -3'
(R):5'- atccctcccagggCCAC -3'

Posted On

2013-05-23