Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:Mlycd'

189177

Institutional Source

Beutler Lab

Gene Symbol

Mlycd

Ensembl Gene

ENSMUSG00000074064

Gene Name

malonyl-CoA decarboxylase

Synonyms

Mcd

MMRRC Submission

038321-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120121617-120137841 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120137174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 465 (I465V)

Ref Sequence

ENSEMBL: ENSMUSP00000095970 (fasta)

Gene Model

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

AlphaFold

Q99J39

Predicted Effect

probably benign
Transcript: ENSMUST00000098367
AA Change: I465V

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

SMART Domains

Protein: ENSMUSP00000095970
Gene: ENSMUSG00000074064
AA Change: I465V

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,566 (GRCm39)	I585N	possibly damaging	Het
A830005F24Rik	C	T	13: 48,667,848 (GRCm39)		probably benign	Het
Abca16	C	T	7: 120,077,146 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,666,322 (GRCm39)	L140F	probably benign	Het
Adam19	G	T	11: 46,027,086 (GRCm39)	C573F	probably damaging	Het
Aff3	A	G	1: 38,242,974 (GRCm39)	S948P	probably benign	Het
Anxa3	T	A	5: 96,986,260 (GRCm39)	Y300N	probably benign	Het
BC016579	T	C	16: 45,460,730 (GRCm39)	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,576,494 (GRCm39)	L113P	probably benign	Het
Casq1	T	C	1: 172,046,967 (GRCm39)		probably benign	Het
Cdc16	T	A	8: 13,809,130 (GRCm39)		probably null	Het
Cep135	C	T	5: 76,754,581 (GRCm39)	R353*	probably null	Het
Cma1	A	T	14: 56,179,621 (GRCm39)	C188S	probably damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,504,718 (GRCm39)	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,625,597 (GRCm39)	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,777,363 (GRCm39)	Q203*	probably null	Het
Ephb3	A	G	16: 21,033,667 (GRCm39)	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,574,652 (GRCm39)	T118N	probably damaging	Het
Gm10801	T	C	2: 98,494,254 (GRCm39)		probably benign	Het
Got1l1	C	T	8: 27,690,276 (GRCm39)	V132I	probably benign	Het
H2-M9	T	C	17: 36,952,419 (GRCm39)		probably benign	Het
Ibtk	A	G	9: 85,572,356 (GRCm39)	V1278A	probably benign	Het
Kctd3	T	C	1: 188,708,818 (GRCm39)	T519A	probably damaging	Het
Lgsn	T	A	1: 31,242,524 (GRCm39)	V202D	probably damaging	Het
Madd	A	G	2: 91,006,053 (GRCm39)	F381L	possibly damaging	Het
Map1s	G	A	8: 71,367,282 (GRCm39)	G729D	probably damaging	Het
Mrgprb1	T	C	7: 48,096,952 (GRCm39)	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,131,771 (GRCm39)	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,329,255 (GRCm39)	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,297,334 (GRCm39)	D773G	probably damaging	Het
Nxnl1	A	G	8: 72,019,217 (GRCm39)	S3P	probably damaging	Het
Or12d17	T	A	17: 37,777,694 (GRCm39)	V199D	probably damaging	Het
Or8b54	G	A	9: 38,686,892 (GRCm39)	V114I	probably benign	Het
Otud7a	T	C	7: 63,385,549 (GRCm39)	F338L	probably benign	Het
Pdcl3	T	A	1: 39,030,361 (GRCm39)	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,905,821 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,642,667 (GRCm39)	N413K	probably benign	Het
Rapgef5	T	C	12: 117,652,896 (GRCm39)	S307P	probably benign	Het
Relt	C	A	7: 100,499,428 (GRCm39)	E164*	probably null	Het
Rnf185	T	C	11: 3,376,617 (GRCm39)	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,985 (GRCm39)	E21G	probably benign	Het
Scn5a	A	G	9: 119,351,632 (GRCm39)	I783T	probably damaging	Het
Senp1	T	C	15: 97,974,549 (GRCm39)	R88G	probably damaging	Het
Skint5	A	T	4: 113,403,665 (GRCm39)		probably benign	Het
Slc35b1	T	C	11: 95,281,468 (GRCm39)	S294P	probably benign	Het
Slc5a2	T	A	7: 127,869,225 (GRCm39)	I335N	probably damaging	Het
Spata31e2	T	A	1: 26,722,450 (GRCm39)	D910V	probably benign	Het
Sstr1	T	A	12: 58,259,644 (GRCm39)	M89K	probably damaging	Het
Szt2	A	T	4: 118,241,969 (GRCm39)	S1612R	possibly damaging	Het
Taf1c	T	C	8: 120,330,975 (GRCm39)		probably null	Het
Taf1d	T	A	9: 15,219,944 (GRCm39)	S64R	probably damaging	Het
Tmem125	A	G	4: 118,399,270 (GRCm39)	S54P	possibly damaging	Het
Ttf1	T	A	2: 28,961,361 (GRCm39)	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,142,653 (GRCm39)		probably null	Het
Unc5b	A	T	10: 60,610,371 (GRCm39)	I482N	possibly damaging	Het
Unc80	C	A	1: 66,560,743 (GRCm39)	Q824K	probably benign	Het
Utrn	T	C	10: 12,601,940 (GRCm39)		probably benign	Het
Vmn2r61	T	G	7: 41,924,898 (GRCm39)	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,447 (GRCm39)	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,202,357 (GRCm39)	L240*	probably null	Het

Other mutations in Mlycd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02481:Mlycd	APN	8	120,137,073 (GRCm39)	missense	probably damaging	1.00
IGL02976:Mlycd	APN	8	120,128,224 (GRCm39)	missense	possibly damaging	0.70
PIT4142001:Mlycd	UTSW	8	120,137,199 (GRCm39)	missense	probably damaging	1.00
R0164:Mlycd	UTSW	8	120,134,380 (GRCm39)	missense	probably damaging	1.00
R0164:Mlycd	UTSW	8	120,134,380 (GRCm39)	missense	probably damaging	1.00
R1531:Mlycd	UTSW	8	120,128,258 (GRCm39)	nonsense	probably null
R2508:Mlycd	UTSW	8	120,134,446 (GRCm39)	critical splice donor site	probably null
R4449:Mlycd	UTSW	8	120,137,144 (GRCm39)	missense	probably damaging	1.00
R5061:Mlycd	UTSW	8	120,137,043 (GRCm39)	missense	probably damaging	1.00
R5781:Mlycd	UTSW	8	120,137,019 (GRCm39)	missense	probably damaging	1.00
R7135:Mlycd	UTSW	8	120,129,216 (GRCm39)	missense	probably damaging	1.00
R8194:Mlycd	UTSW	8	120,134,332 (GRCm39)	missense	probably benign	0.09
R9778:Mlycd	UTSW	8	120,129,325 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCCTGTTCACGAGAGCCTCAAG -3'
(R):5'- TGTGGTAAGTAAGCCTGGCCCATC -3'

Sequencing Primer
(F):5'- GGCCACTAATGAGGCTGTG -3'
(R):5'- TCAGAACACAGCCTCCTTTCTAAG -3'

Posted On

2014-05-13