Mutagenetix > Incidental Mutation

Incidental Mutation 'R7882:Acadm'

608812

Institutional Source

Beutler Lab

Gene Symbol

Acadm

Ensembl Gene

ENSMUSG00000062908

Gene Name

acyl-Coenzyme A dehydrogenase, medium chain

Synonyms

MCAD

MMRRC Submission

045934-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153627994-153650269 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 153644250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 110 (E110*)

Ref Sequence

ENSEMBL: ENSMUSP00000072483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072697] [ENSMUST00000150070] [ENSMUST00000156310]

AlphaFold

P45952

Predicted Effect

probably null
Transcript: ENSMUST00000072697
AA Change: E110*

SMART Domains

Protein: ENSMUSP00000072483
Gene: ENSMUSG00000062908
AA Change: E110*

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	42	152	2e-27	PFAM
Pfam:Acyl-CoA_dh_M	157	255	2.3e-26	PFAM
Pfam:Acyl-CoA_dh_1	267	416	1.7e-48	PFAM
Pfam:Acyl-CoA_dh_2	283	405	2.1e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000150070
AA Change: E78*

SMART Domains

Protein: ENSMUSP00000121714
Gene: ENSMUSG00000062908
AA Change: E78*

Domain	Start	End	E-Value	Type
Pfam:Acyl-CoA_dh_N	36	121	5.4e-21	PFAM
Pfam:Acyl-CoA_dh_M	125	144	5.6e-7	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000156310
AA Change: R144L

SMART Domains

Protein: ENSMUSP00000122989
Gene: ENSMUSG00000062908
AA Change: R144L

Domain	Start	End	E-Value	Type
PDB:2A1T\|D	1	77	2e-30	PDB
SCOP:d3mdda2	36	88	2e-9	SMART
low complexity region	101	111	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: This gene encodes a homotetrameric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum length between C6- and C12-acylCoA. In mice, deficiency of this gene can cause neonatal mortality as well as fasting and cold intolerance. This gene has multiple, intronless pseudogenes. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display a high degree of postnatal lethality, develop an organic aciduria, fatty liver and an unexpected diffuse cardiomyopathy with multifocal myocyte degeneration and necrosis, and show severe cold intolerance with prior fasting. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	G	T	3: 37,133,951 (GRCm39)	V289F	probably damaging	Het
Adgra2	A	G	8: 27,607,440 (GRCm39)	D717G	probably benign	Het
Arid3b	T	C	9: 57,703,780 (GRCm39)	I389M	possibly damaging	Het
Axdnd1	A	G	1: 156,225,023 (GRCm39)	V47A		Het
Cachd1	T	A	4: 100,824,244 (GRCm39)	L562M	probably benign	Het
Cadm2	A	T	16: 66,528,357 (GRCm39)	I326N	probably benign	Het
Ccpg1	T	C	9: 72,922,787 (GRCm39)	F799S	probably damaging	Het
Ces1c	T	C	8: 93,833,231 (GRCm39)	I411M	probably benign	Het
Cgn	T	G	3: 94,669,941 (GRCm39)	K1066N	probably damaging	Het
Cntn4	A	G	6: 106,330,684 (GRCm39)	I101V	probably benign	Het
Cntrl	A	G	2: 35,060,592 (GRCm39)	E1928G	probably benign	Het
Cxcl12	A	G	6: 117,148,464 (GRCm39)	Y28C	probably damaging	Het
Cyp2r1	A	T	7: 114,153,824 (GRCm39)		probably null	Het
D430041D05Rik	C	T	2: 104,087,974 (GRCm39)	W334*	probably null	Het
Dsp	G	A	13: 38,367,994 (GRCm39)	R671Q	possibly damaging	Het
Fancm	A	G	12: 65,173,568 (GRCm39)	K1960R	probably benign	Het
Fgd5	T	A	6: 92,045,459 (GRCm39)	Y1331N	probably damaging	Het
Ina	G	A	19: 47,004,100 (GRCm39)	E303K		Het
Kctd3	C	A	1: 188,715,243 (GRCm39)	V369F	possibly damaging	Het
Kif14	T	C	1: 136,399,314 (GRCm39)		probably null	Het
Kif14	T	C	1: 136,443,763 (GRCm39)	V1312A	probably benign	Het
Krt84	T	C	15: 101,436,826 (GRCm39)	I403V	probably benign	Het
Krtap9-1	A	C	11: 99,764,356 (GRCm39)	T31P	unknown	Het
Lyrm9	A	T	11: 78,728,967 (GRCm39)	I60F	probably damaging	Het
Mast1	A	G	8: 85,639,947 (GRCm39)		probably null	Het
Mmp28	T	C	11: 83,334,752 (GRCm39)	D334G	probably damaging	Het
Nr1h5	T	C	3: 102,856,931 (GRCm39)	T194A	possibly damaging	Het
Nrf1	A	G	6: 30,090,299 (GRCm39)	I85M	probably benign	Het
Nrp2	C	T	1: 62,822,680 (GRCm39)	R758C	probably damaging	Het
Or5b116	A	T	19: 13,422,951 (GRCm39)	T192S	probably benign	Het
Pcdhga4	A	G	18: 37,819,681 (GRCm39)	D410G	probably damaging	Het
Pld1	T	C	3: 28,099,158 (GRCm39)	V275A	probably damaging	Het
Plxnc1	A	T	10: 94,679,698 (GRCm39)	F895I	probably benign	Het
Polr2a	A	G	11: 69,627,000 (GRCm39)	I1486T	possibly damaging	Het
Ptprz1	A	G	6: 23,002,256 (GRCm39)	M1449V	probably benign	Het
Rspo4	C	A	2: 151,711,746 (GRCm39)	T156N	probably damaging	Het
Sacs	A	G	14: 61,444,520 (GRCm39)	I2189V	probably benign	Het
Stat5b	A	C	11: 100,674,601 (GRCm39)	F711V	possibly damaging	Het
Stk11ip	C	A	1: 75,506,108 (GRCm39)	Q543K	probably benign	Het
Tarbp1	G	A	8: 127,183,232 (GRCm39)	T529M	probably damaging	Het
Thada	A	T	17: 84,736,624 (GRCm39)	C886S	possibly damaging	Het
Tmem19	A	G	10: 115,179,608 (GRCm39)	F296S	probably benign	Het
Tnfsf13b	A	G	8: 10,057,078 (GRCm39)	N79S	not run	Het
Vdac3	C	A	8: 23,069,073 (GRCm39)	G214C	probably damaging	Het
Vmn2r18	A	C	5: 151,485,329 (GRCm39)	F722V	probably damaging	Het
Vmn2r45	A	G	7: 8,486,409 (GRCm39)	L293S	possibly damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Xpot	A	G	10: 121,454,996 (GRCm39)		probably null	Het
Zfp526	G	A	7: 24,920,860 (GRCm39)		probably benign	Het
Zfp532	A	G	18: 65,756,561 (GRCm39)	T165A	probably benign	Het

Other mutations in Acadm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02452:Acadm	APN	3	153,647,607 (GRCm39)	missense	probably damaging	1.00
IGL02598:Acadm	APN	3	153,644,181 (GRCm39)	splice site	probably benign
IGL02642:Acadm	APN	3	153,644,720 (GRCm39)	missense	probably damaging	1.00
R0092:Acadm	UTSW	3	153,647,512 (GRCm39)	splice site	probably benign
R0270:Acadm	UTSW	3	153,641,961 (GRCm39)	missense	possibly damaging	0.89
R1543:Acadm	UTSW	3	153,635,209 (GRCm39)	missense	probably damaging	1.00
R1868:Acadm	UTSW	3	153,635,889 (GRCm39)	missense	probably benign	0.03
R1955:Acadm	UTSW	3	153,635,188 (GRCm39)	missense	probably damaging	0.97
R2281:Acadm	UTSW	3	153,638,680 (GRCm39)	missense	possibly damaging	0.75
R3774:Acadm	UTSW	3	153,638,734 (GRCm39)	missense	probably benign
R4768:Acadm	UTSW	3	153,628,579 (GRCm39)	missense	probably benign	0.00
R4994:Acadm	UTSW	3	153,635,221 (GRCm39)	missense	probably damaging	1.00
R5194:Acadm	UTSW	3	153,638,755 (GRCm39)	missense	possibly damaging	0.63
R5523:Acadm	UTSW	3	153,644,273 (GRCm39)	missense	probably benign	0.13
R5927:Acadm	UTSW	3	153,644,745 (GRCm39)	missense	probably damaging	1.00
R6109:Acadm	UTSW	3	153,647,580 (GRCm39)	missense	probably damaging	1.00
R6223:Acadm	UTSW	3	153,644,186 (GRCm39)	splice site	probably null
R6896:Acadm	UTSW	3	153,641,957 (GRCm39)	missense	probably damaging	0.99
R7108:Acadm	UTSW	3	153,631,437 (GRCm39)	nonsense	probably null
R7182:Acadm	UTSW	3	153,647,518 (GRCm39)	critical splice donor site	probably null
R7334:Acadm	UTSW	3	153,644,698 (GRCm39)	nonsense	probably null
R7440:Acadm	UTSW	3	153,628,626 (GRCm39)	missense	probably damaging	1.00
R8170:Acadm	UTSW	3	153,650,035 (GRCm39)	missense	possibly damaging	0.93
R8405:Acadm	UTSW	3	153,635,165 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCCCAGGTAAGCGATTAG -3'
(R):5'- ATAGAACTTGCCTGCTCGG -3'

Sequencing Primer
(F):5'- TGTGCACGAGTTACAGCTC -3'
(R):5'- AACTTGCCTGCTCGGAGGAG -3'

Posted On

2019-12-20