Mutagenetix > Incidental Mutation

Incidental Mutation 'R9778:Mlycd'

733848

Institutional Source

Beutler Lab

Gene Symbol

Mlycd

Ensembl Gene

ENSMUSG00000074064

Gene Name

malonyl-CoA decarboxylase

Synonyms

Mcd

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9778 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120121617-120137841 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120129325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 264 (I264N)

Ref Sequence

ENSEMBL: ENSMUSP00000095970 (fasta)

Gene Model

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

AlphaFold

Q99J39

Predicted Effect

probably damaging
Transcript: ENSMUST00000098367
AA Change: I264N

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

SMART Domains

Protein: ENSMUSP00000095970
Gene: ENSMUSG00000074064
AA Change: I264N

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 125,366,098 (GRCm39)	I215N	probably damaging	Het
Aig1	T	C	10: 13,528,757 (GRCm39)		probably null	Het
Atp8b2	T	A	3: 89,861,865 (GRCm39)	K82N	possibly damaging	Het
Cacnb4	T	G	2: 52,359,615 (GRCm39)	Y131S	probably damaging	Het
Cep170b	G	A	12: 112,697,864 (GRCm39)	S62N	possibly damaging	Het
Crmp1	A	G	5: 37,422,619 (GRCm39)	D142G	probably benign	Het
Csf1r	A	G	18: 61,260,957 (GRCm39)	Q716R	possibly damaging	Het
Cyp2u1	T	C	3: 131,087,133 (GRCm39)	T483A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,503,565 (GRCm39)	F247L	probably benign	Het
Dcaf13	T	C	15: 39,008,586 (GRCm39)	L396P	probably damaging	Het
Dnhd1	A	G	7: 105,353,240 (GRCm39)	M2798V	probably benign	Het
E030018B13Rik	A	T	7: 63,569,125 (GRCm39)	T58S	unknown	Het
Eipr1	T	C	12: 28,897,657 (GRCm39)		probably null	Het
Elf1	C	T	14: 79,817,948 (GRCm39)	T526M	possibly damaging	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTG	19: 11,489,128 (GRCm39)		probably null	Het
Got1	A	G	19: 43,504,284 (GRCm39)	S46P	probably benign	Het
Inpp4b	T	C	8: 82,775,160 (GRCm39)	I786T	probably benign	Het
Kdm1a	T	C	4: 136,279,892 (GRCm39)	I703M	probably damaging	Het
Krt222	A	T	11: 99,125,838 (GRCm39)	S264R	probably benign	Het
Lrrd1	A	C	5: 3,899,982 (GRCm39)	S96R	possibly damaging	Het
Ltb	C	A	17: 35,414,906 (GRCm39)	Y235*	probably null	Het
Mbd2	T	A	18: 70,751,050 (GRCm39)	C362S	probably damaging	Het
Mri1	C	T	8: 84,980,933 (GRCm39)	C199Y	possibly damaging	Het
Muc5ac	A	T	7: 141,349,021 (GRCm39)	K487*	probably null	Het
Myh13	T	C	11: 67,249,016 (GRCm39)	I1274T	probably damaging	Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Ncf1	T	A	5: 134,258,444 (GRCm39)		probably benign	Het
Nipbl	C	A	15: 8,321,032 (GRCm39)	A2692S	probably benign	Het
Odf2l	C	T	3: 144,854,789 (GRCm39)	T542I	possibly damaging	Het
Or10a49	A	G	7: 108,467,698 (GRCm39)	I221T	probably damaging	Het
Or10al2	T	A	17: 37,983,145 (GRCm39)	I77N	probably damaging	Het
Oxsm	T	C	14: 16,242,629 (GRCm38)	T47A	possibly damaging	Het
Pcdhga3	A	T	18: 37,807,786 (GRCm39)	S80C	probably benign	Het
Pcnx2	T	C	8: 126,512,176 (GRCm39)	T1377A	probably benign	Het
Phactr3	C	A	2: 177,924,805 (GRCm39)	Q252K	possibly damaging	Het
Phf2	T	C	13: 48,973,101 (GRCm39)	H385R	unknown	Het
Pkd1l3	A	T	8: 110,357,937 (GRCm39)	T820S	probably benign	Het
Plekhg1	T	A	10: 3,887,966 (GRCm39)	H353Q		Het
Prss37	T	A	6: 40,494,713 (GRCm39)	E24V	probably damaging	Het
Reln	A	G	5: 22,155,943 (GRCm39)	F2183S	probably damaging	Het
Slc20a2	A	G	8: 23,051,407 (GRCm39)	D480G	probably damaging	Het
Slc8a2	C	T	7: 15,887,124 (GRCm39)	T672M	probably damaging	Het
Slf2	A	G	19: 44,961,666 (GRCm39)	T1062A	probably benign	Het
Snx29	A	G	16: 11,223,609 (GRCm39)	E18G	possibly damaging	Het
Spata31e1	C	T	13: 49,939,542 (GRCm39)	V723M	possibly damaging	Het
Srf	C	A	17: 46,860,079 (GRCm39)	G482V	possibly damaging	Het
Styk1	G	A	6: 131,287,992 (GRCm39)	Q124*	probably null	Het
Tcf7l1	G	T	6: 72,608,226 (GRCm39)	A385E	probably damaging	Het
Thbs4	A	G	13: 92,913,495 (GRCm39)	S142P	probably benign	Het
Tlr1	G	A	5: 65,083,371 (GRCm39)	S402F	probably damaging	Het
Tnrc6a	A	G	7: 122,769,635 (GRCm39)	H475R	probably benign	Het
Trmt10b	A	T	4: 45,314,374 (GRCm39)	N272I	probably damaging	Het
Ubxn7	A	T	16: 32,200,471 (GRCm39)	N409I	probably benign	Het
Vcan	T	C	13: 89,837,930 (GRCm39)	E2538G	probably damaging	Het
Vmn1r65	C	T	7: 6,011,387 (GRCm39)	W282*	probably null	Het
Vmn2r4	A	G	3: 64,322,497 (GRCm39)	I74T	probably benign	Het
Wdr97	T	A	15: 76,241,125 (GRCm39)	F574I		Het
Zfp949	T	C	9: 88,449,340 (GRCm39)		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
R0026:Mlycd	UTSW	8	120,137,174 (GRCm39)	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- AGGACTAAGTGCCTGTCCATTTG -3'
(R):5'- AGGTGAGCGCTTATCCTTGG -3'

Sequencing Primer
(F):5'- AAGTGCCTGTCCATTTGTAATTC -3'
(R):5'- AGTTCAAAGCTAGCCTGGTC -3'

Posted On

2022-11-14