Mutagenetix > Incidental Mutation

Incidental Mutation 'R5061:Mlycd'

386623

Institutional Source

Beutler Lab

Gene Symbol

Mlycd

Ensembl Gene

ENSMUSG00000074064

Gene Name

malonyl-CoA decarboxylase

Synonyms

Mcd

MMRRC Submission

042651-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R5061 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

119394878-119411102 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119410304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 421 (F421S)

Ref Sequence

ENSEMBL: ENSMUSP00000095970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098367]

AlphaFold

Q99J39

Predicted Effect

probably damaging
Transcript: ENSMUST00000098367
AA Change: F421S

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

SMART Domains

Protein: ENSMUSP00000095970
Gene: ENSMUSG00000074064
AA Change: F421S

Domain	Start	End	E-Value	Type
low complexity region	2	34	N/A	INTRINSIC
Pfam:MCD	92	456	1.3e-120	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145121

Meta Mutation Damage Score

0.8233

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit altered cardiac metabolism following ischemia and improved recovery. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,450,953	H53R	probably benign	Het
Abcg1	A	G	17: 31,092,392	K124E	probably damaging	Het
Acot4	G	T	12: 84,038,701	R64L	probably benign	Het
Adam22	G	C	5: 8,180,238		probably benign	Het
Add2	G	A	6: 86,087,047		probably null	Het
Adgrb3	G	A	1: 25,068,128		probably benign	Het
Akap8l	T	G	17: 32,332,894	K441T	probably damaging	Het
Aspn	T	A	13: 49,566,604	S365R	probably damaging	Het
Atxn1	T	G	13: 45,557,093	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,500,203	H135N	probably damaging	Het
Borcs8	T	G	8: 70,140,358		probably null	Het
Col5a1	G	A	2: 27,952,378	D422N	unknown	Het
Cstad	A	T	2: 30,608,263	T37S	unknown	Het
Dgkq	A	T	5: 108,654,123	D455E	probably benign	Het
Dopey1	T	C	9: 86,503,108		probably benign	Het
Ebf3	T	C	7: 137,313,559	I84V	possibly damaging	Het
Ehmt2	C	T	17: 34,899,091	R40*	probably null	Het
Eif3e	A	T	15: 43,252,261	W370R	probably damaging	Het
Eya3	T	A	4: 132,704,378	D323E	probably damaging	Het
F5	T	C	1: 164,194,180	L1408P	probably benign	Het
Gfod1	C	T	13: 43,200,516	G328S	probably benign	Het
Gja1	T	A	10: 56,387,656	L37Q	probably damaging	Het
Gm10650	T	A	3: 128,040,017		noncoding transcript	Het
Gm14226	T	A	2: 155,025,186	H354Q	probably benign	Het
Gm15056	T	C	8: 20,900,742	T60A	probably benign	Het
Gm6614	T	A	6: 142,008,688	M20L	probably benign	Het
Grrp1	T	C	4: 134,251,730	T146A	probably benign	Het
Hsd11b1	A	T	1: 193,242,245	N6K	probably benign	Het
Ighv1-36	T	C	12: 114,880,122	I39M	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kdm7a	G	A	6: 39,151,452	P482S	possibly damaging	Het
Lama5	C	A	2: 180,198,786	E607*	probably null	Het
Lao1	T	A	4: 118,967,476	S252T	probably benign	Het
Lrp12	A	G	15: 39,878,254	F355S	probably damaging	Het
Nectin3	T	C	16: 46,448,449	E530G	probably benign	Het
Nifk	T	C	1: 118,332,939	*270R	probably null	Het
Ocln	T	C	13: 100,539,598	Y129C	probably damaging	Het
Olfr1130	C	T	2: 87,607,832	T148I	probably benign	Het
Olfr1278	T	A	2: 111,292,487	L73H	probably damaging	Het
Olfr1472	A	T	19: 13,453,985	C177*	probably null	Het
Olfr685	T	A	7: 105,180,657	I219F	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,519,126	G216C	probably damaging	Het
Ppcs	T	C	4: 119,419,215	K58E	probably damaging	Het
Prss38	T	C	11: 59,374,370	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,720,433		probably null	Het
Rbm18	A	G	2: 36,127,205	F54L	possibly damaging	Het
Rwdd3	G	A	3: 121,159,783		probably benign	Het
Ryr2	T	C	13: 11,635,536	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,713,532		probably null	Het
Serpinb10	A	G	1: 107,540,971	T115A	probably benign	Het
Slx4ip	T	G	2: 137,044,010	F83L	probably damaging	Het
St3gal1	A	T	15: 67,108,229	S274T	probably benign	Het
Stab1	A	C	14: 31,163,099	C121W	probably damaging	Het
Stab2	A	G	10: 86,907,385	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954	I77R	probably benign	Het
Tbk1	T	G	10: 121,576,336	E47A	possibly damaging	Het
Tert	C	T	13: 73,634,278	T557I	probably damaging	Het
Tfap2c	A	G	2: 172,552,027	D252G	probably damaging	Het
Tll1	C	A	8: 64,053,949	C586F	probably damaging	Het
Tln2	T	G	9: 67,354,468	N663T	probably benign	Het
Tmem245	T	A	4: 56,946,945	Y156F	possibly damaging	Het
Uhrf1	G	T	17: 56,320,542		probably null	Het
Unc79	T	A	12: 103,168,441	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,957,274	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,581,814	S693A	probably benign	Het
Vps54	G	A	11: 21,319,881		probably benign	Het
Znfx1	T	C	2: 167,065,398		probably benign	Het

Other mutations in Mlycd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02481:Mlycd	APN	8	119410334	missense	probably damaging	1.00
IGL02976:Mlycd	APN	8	119401485	missense	possibly damaging	0.70
PIT4142001:Mlycd	UTSW	8	119410460	missense	probably damaging	1.00
R0026:Mlycd	UTSW	8	119410435	missense	probably benign
R0164:Mlycd	UTSW	8	119407641	missense	probably damaging	1.00
R0164:Mlycd	UTSW	8	119407641	missense	probably damaging	1.00
R1531:Mlycd	UTSW	8	119401519	nonsense	probably null
R2508:Mlycd	UTSW	8	119407707	critical splice donor site	probably null
R4449:Mlycd	UTSW	8	119410405	missense	probably damaging	1.00
R5781:Mlycd	UTSW	8	119410280	missense	probably damaging	1.00
R7135:Mlycd	UTSW	8	119402477	missense	probably damaging	1.00
R8194:Mlycd	UTSW	8	119407593	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGACTCAGAGTGCCAAGAAATCTC -3'
(R):5'- TGTTCTGGAACTGGGCTACC -3'

Sequencing Primer
(F):5'- GTGCCAAGAAATCTCAGCGGTTAC -3'
(R):5'- TACCAGGCTGAGGATCTGCTC -3'

Posted On

2016-06-06