Mutagenetix > Incidental Mutation

Incidental Mutation 'R1732:Cmbl'

199419

Institutional Source

Beutler Lab

Gene Symbol

Cmbl

Ensembl Gene

ENSMUSG00000022235

Gene Name

carboxymethylenebutenolidase homolog

Synonyms

2310016A09Rik

MMRRC Submission

039764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31565535-31590265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31588378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 165 (E165D)

Ref Sequence

ENSEMBL: ENSMUSP00000125296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022842] [ENSMUST00000070918] [ENSMUST00000161088] [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: E177D

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070314
Gene: ENSMUSG00000022235
AA Change: E177D

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: 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 damaging
Transcript: ENSMUST00000162532
AA Change: E165D

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

SMART Domains

Protein: ENSMUSP00000125296
Gene: ENSMUSG00000022235
AA Change: E165D

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: E177D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.4435

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (78/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	A	12: 71,265,995 (GRCm39)	Q1445K	probably benign	Het
Acacb	A	T	5: 114,328,148 (GRCm39)	M303L	possibly damaging	Het
Actl9	T	C	17: 33,652,096 (GRCm39)	V52A	probably damaging	Het
Adam7	T	C	14: 68,735,899 (GRCm39)	T781A	probably benign	Het
Agpat4	T	C	17: 12,435,615 (GRCm39)	V293A	probably benign	Het
Ank1	T	A	8: 23,601,479 (GRCm39)		probably benign	Het
Atp1a1	C	A	3: 101,492,115 (GRCm39)	G587V	probably damaging	Het
Avpr1b	T	C	1: 131,527,992 (GRCm39)	F172L	probably damaging	Het
Bmp1	A	T	14: 70,723,705 (GRCm39)	D710E	possibly damaging	Het
Cep126	A	T	9: 8,099,762 (GRCm39)	I924N	probably benign	Het
Chek2	G	T	5: 111,019,968 (GRCm39)	A517S	probably benign	Het
Cntnap3	A	T	13: 64,888,626 (GRCm39)		probably null	Het
Col1a1	A	T	11: 94,835,241 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,600,653 (GRCm39)	M624V	possibly damaging	Het
Cwc15	A	G	9: 14,421,543 (GRCm39)	D203G	probably benign	Het
Cyld	C	T	8: 89,458,295 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,302,455 (GRCm39)	I84F	probably damaging	Het
Dennd3	T	A	15: 73,409,267 (GRCm39)		probably benign	Het
Desi2	A	C	1: 178,084,217 (GRCm39)		probably benign	Het
Dmxl1	T	A	18: 50,026,511 (GRCm39)	L1873*	probably null	Het
Dmxl1	T	A	18: 50,036,055 (GRCm39)	H2359Q	probably benign	Het
Ephb4	A	G	5: 137,370,440 (GRCm39)	N880S	possibly damaging	Het
F10	T	C	8: 13,100,764 (GRCm39)	L214P	probably damaging	Het
F5	G	A	1: 164,001,719 (GRCm39)	V141M	probably damaging	Het
Fam135a	A	T	1: 24,065,734 (GRCm39)	S1022T	possibly damaging	Het
Fam13b	A	T	18: 34,620,187 (GRCm39)	N232K	probably benign	Het
Fyco1	T	C	9: 123,648,157 (GRCm39)	E1259G	probably benign	Het
Gak	A	T	5: 108,724,448 (GRCm39)	D1087E	probably benign	Het
Gm7138	A	T	10: 77,612,682 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,962 (GRCm39)		noncoding transcript	Het
Gpr25	A	G	1: 136,187,866 (GRCm39)	V249A	probably benign	Het
Hcn3	T	C	3: 89,055,426 (GRCm39)	H607R	probably damaging	Het
Hdac4	T	A	1: 91,875,257 (GRCm39)	T905S	probably benign	Het
Itgad	T	C	7: 127,804,279 (GRCm39)	S86P	probably benign	Het
Itgb4	G	T	11: 115,879,744 (GRCm39)	R632L	probably damaging	Het
Kcnb2	A	T	1: 15,779,979 (GRCm39)	T284S	probably benign	Het
Klhl22	T	A	16: 17,594,888 (GRCm39)	M339K	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mybpc2	C	A	7: 44,163,099 (GRCm39)	V484L	probably benign	Het
Noa1	A	T	5: 77,454,221 (GRCm39)	V473E	probably benign	Het
Nwd1	C	G	8: 73,393,463 (GRCm39)	S242C	possibly damaging	Het
Or55b10	C	A	7: 102,143,247 (GRCm39)	C245F	probably damaging	Het
Or7e174	A	G	9: 20,012,796 (GRCm39)	H247R	probably damaging	Het
Otof	A	T	5: 30,543,815 (GRCm39)	W535R	probably damaging	Het
Peg3	T	C	7: 6,712,084 (GRCm39)	E1046G	possibly damaging	Het
Phldb2	T	C	16: 45,577,529 (GRCm39)	E1132G	probably damaging	Het
Phtf2	A	T	5: 20,994,625 (GRCm39)		probably null	Het
Plce1	G	T	19: 38,705,282 (GRCm39)	A896S	possibly damaging	Het
Prim1	T	C	10: 127,851,193 (GRCm39)	Y26H	probably damaging	Het
Prr12	T	A	7: 44,697,780 (GRCm39)	T712S	unknown	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Ptpdc1	T	C	13: 48,740,021 (GRCm39)	E409G	probably benign	Het
Rabep1	A	G	11: 70,795,467 (GRCm39)	N274S	probably damaging	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rec114	A	G	9: 58,560,389 (GRCm39)	S206P	probably damaging	Het
Rps6ka1	A	T	4: 133,587,381 (GRCm39)	Y531N	probably damaging	Het
Slc28a2	T	C	2: 122,280,239 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 55,561,233 (GRCm39)	H566R	probably benign	Het
Slc9c1	A	G	16: 45,373,291 (GRCm39)	T290A	probably benign	Het
Smarcc1	T	A	9: 110,014,888 (GRCm39)		probably benign	Het
Srp54b	T	A	12: 55,299,544 (GRCm39)		probably null	Het
Stambpl1	C	G	19: 34,204,121 (GRCm39)	N70K	probably damaging	Het
Synj1	T	C	16: 90,761,118 (GRCm39)	K710E	probably damaging	Het
Tenm3	T	A	8: 48,763,669 (GRCm39)	D795V	probably damaging	Het
Tgm2	T	C	2: 157,976,277 (GRCm39)	Y149C	probably damaging	Het
Tmem151a	C	A	19: 5,132,895 (GRCm39)	A104S	probably damaging	Het
Top1mt	A	G	15: 75,538,100 (GRCm39)		probably null	Het
Tpgs1	T	A	10: 79,511,428 (GRCm39)	L190Q	possibly damaging	Het
Triobp	T	A	15: 78,851,428 (GRCm39)	H527Q	possibly damaging	Het
Tspan2	A	G	3: 102,676,193 (GRCm39)	I197V	probably damaging	Het
Ube3b	A	G	5: 114,525,506 (GRCm39)	I76V	probably benign	Het
Vmn1r32	A	T	6: 66,530,285 (GRCm39)	S164T	probably benign	Het
Zfp607a	G	T	7: 27,577,884 (GRCm39)	C318F	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
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'- ACATGGAAGCAGGTCTCTGACCAC -3'
(R):5'- CAGTGAACAGGCTGTACCAGGAAC -3'

Sequencing Primer
(F):5'- GGTCTCTGACCACATGGTCTAC -3'
(R):5'- cgcacccctgtaatccc -3'

Posted On

2014-05-23