Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:Mlycd'

24044

Institutional Source

Beutler Lab

Gene Symbol

Mlycd

Ensembl Gene

ENSMUSG00000074064

Gene Name

malonyl-CoA decarboxylase

Synonyms

Mcd

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R0164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120121617-120137841 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120134380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 294 (Q294L)

Ref Sequence

ENSEMBL: ENSMUSP00000095970 (fasta)

Gene Model

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

AlphaFold

Q99J39

Predicted Effect

probably damaging
Transcript: ENSMUST00000098367
AA Change: Q294L

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

SMART Domains

Protein: ENSMUSP00000095970
Gene: ENSMUSG00000074064
AA Change: Q294L

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

0.9397

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

98% (85/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC	10: 95,630,440 (GRCm39)		probably null	Het
4930522L14Rik	T	C	5: 109,884,713 (GRCm39)	K382E	probably damaging	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Aldh3a2	C	T	11: 61,139,714 (GRCm39)	V473I	probably benign	Het
Arfgef3	A	T	10: 18,523,663 (GRCm39)	I369K	possibly damaging	Het
Atl2	A	G	17: 80,161,260 (GRCm39)		probably benign	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
Bahcc1	A	T	11: 120,175,900 (GRCm39)		probably benign	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
BC028528	A	T	3: 95,794,646 (GRCm39)		probably benign	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dhx58	T	C	11: 100,586,150 (GRCm39)	I624V	probably benign	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah6	C	T	6: 73,165,518 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,416,071 (GRCm39)	I310F	probably damaging	Het
Fggy	A	T	4: 95,725,891 (GRCm39)	I137F	probably damaging	Het
Gli2	A	G	1: 118,818,013 (GRCm39)		probably benign	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Grin2b	A	G	6: 135,755,646 (GRCm39)		probably benign	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Ipo11	A	G	13: 107,046,702 (GRCm39)		probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Ltn1	G	A	16: 87,202,407 (GRCm39)		probably benign	Het
Mmrn1	T	A	6: 60,952,799 (GRCm39)		probably benign	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
N4bp2	T	C	5: 65,960,916 (GRCm39)		probably benign	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Rnf157	A	G	11: 116,245,636 (GRCm39)		probably benign	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Skint6	A	T	4: 112,848,433 (GRCm39)		probably benign	Het
Slfn10-ps	T	C	11: 82,926,128 (GRCm39)		noncoding transcript	Het
Sspo	T	A	6: 48,471,128 (GRCm39)		probably benign	Het
Tcp1	T	A	17: 13,141,634 (GRCm39)		probably benign	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tenm4	T	G	7: 96,378,547 (GRCm39)		probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tmem208	T	G	8: 106,061,326 (GRCm39)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 56,968,184 (GRCm39)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ubac2	A	G	14: 122,246,329 (GRCm39)		probably benign	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm39)	Y504N	probably benign	Het
Ugt1a6a	T	C	1: 88,066,992 (GRCm39)	V266A	possibly damaging	Het
Ugt1a6b	T	A	1: 88,035,189 (GRCm39)	C176S	probably damaging	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r114	A	G	17: 23,528,800 (GRCm39)		probably null	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Wdr43	T	G	17: 71,938,992 (GRCm39)		probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	probably benign	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
R0026:Mlycd	UTSW	8	120,137,174 (GRCm39)	missense	probably benign
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'- ACAGATGGCCTGAACCTGAGCAAC -3'
(R):5'- TGTCTGCATCCCTGTGAGACATCC -3'

Sequencing Primer
(F):5'- GAGCAGGGACTCAATTCTCC -3'
(R):5'- TCCCTGTGAGACATCCCAGAG -3'

Posted On

2013-04-16