Mutagenetix > Incidental Mutation

Incidental Mutation 'R6109:Acadm'

484706

Institutional Source

Beutler Lab

Gene Symbol

Acadm

Ensembl Gene

ENSMUSG00000062908

Gene Name

acyl-Coenzyme A dehydrogenase, medium chain

Synonyms

MCAD

MMRRC Submission

044259-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6109 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153627994-153650269 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153647580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 20 (C20R)

Ref Sequence

ENSEMBL: ENSMUSP00000122989 (fasta)

Gene Model

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

AlphaFold

P45952

Predicted Effect

probably benign
Transcript: ENSMUST00000072697
AA Change: C20R

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

SMART Domains

Protein: ENSMUSP00000072483
Gene: ENSMUSG00000062908
AA Change: C20R

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

noncoding transcript
Transcript: ENSMUST00000130713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137161

Predicted Effect

probably benign
Transcript: ENSMUST00000150070

SMART Domains

Protein: ENSMUSP00000121714
Gene: ENSMUSG00000062908

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

probably damaging
Transcript: ENSMUST00000156310
AA Change: C20R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122989
Gene: ENSMUSG00000062908
AA Change: C20R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196188

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200250

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,303 (GRCm39)	Y950C	probably benign	Het
Agtpbp1	G	T	13: 59,621,560 (GRCm39)	T984K	probably damaging	Het
Agxt2	C	T	15: 10,377,508 (GRCm39)	T136I	probably damaging	Het
Ankrd36	C	A	11: 5,578,941 (GRCm39)	N68K	probably damaging	Het
Ap3b2	T	A	7: 81,143,340 (GRCm39)	D10V	possibly damaging	Het
Apcdd1	A	T	18: 63,070,437 (GRCm39)	I235F	probably damaging	Het
Arhgap32	T	A	9: 32,171,407 (GRCm39)	W1396R	probably damaging	Het
Ascc3	A	G	10: 50,525,343 (GRCm39)	T513A	probably benign	Het
Aym1	C	T	5: 113,505,407 (GRCm39)	L9F	unknown	Het
Btnl10	C	A	11: 58,811,130 (GRCm39)	S151Y	probably damaging	Het
Camk2a	A	T	18: 61,076,306 (GRCm39)	K95*	probably null	Het
Ccdc40	T	C	11: 119,122,804 (GRCm39)	V202A	probably benign	Het
Cd200r3	T	A	16: 44,774,045 (GRCm39)	D152E	probably benign	Het
Cd2bp2	C	T	7: 126,793,987 (GRCm39)	D101N	probably damaging	Het
Cdh20	G	A	1: 104,921,739 (GRCm39)	D679N	probably damaging	Het
Clpx	C	T	9: 65,207,234 (GRCm39)	T44I	probably benign	Het
Cnnm4	T	G	1: 36,537,560 (GRCm39)	V541G	probably damaging	Het
Csmd1	T	C	8: 16,249,874 (GRCm39)	I1035V	possibly damaging	Het
Ctsw	T	C	19: 5,517,147 (GRCm39)	S62G	probably benign	Het
Dlk2	T	A	17: 46,612,623 (GRCm39)	Y109N	probably damaging	Het
Ebf3	C	T	7: 136,807,955 (GRCm39)	V363M	probably damaging	Het
Farsb	A	G	1: 78,439,907 (GRCm39)		probably null	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxl3	C	A	5: 138,805,850 (GRCm39)	Q6K	probably damaging	Het
Gk5	C	A	9: 96,022,663 (GRCm39)	F166L	probably benign	Het
Gm11271	G	T	13: 21,565,309 (GRCm39)		noncoding transcript	Het
Gnat2	T	A	3: 108,007,451 (GRCm39)	Y290N	probably damaging	Het
H2-D1	A	T	17: 35,482,913 (GRCm39)	I148F	probably damaging	Het
Hdac2	A	G	10: 36,862,385 (GRCm39)	D83G	probably null	Het
Kdm5d	T	C	Y: 921,501 (GRCm39)	W500R	probably damaging	Het
Kel	A	T	6: 41,665,796 (GRCm39)	F489I	probably benign	Het
Kmo	C	A	1: 175,465,474 (GRCm39)	A76E	possibly damaging	Het
Krt32	T	C	11: 99,978,791 (GRCm39)	T88A	probably benign	Het
Lce3b	A	G	3: 92,840,994 (GRCm39)	T30A	unknown	Het
Lcn11	A	G	2: 25,669,308 (GRCm39)	H155R	possibly damaging	Het
Lmln	T	A	16: 32,889,481 (GRCm39)	I129N	possibly damaging	Het
Meiob	A	G	17: 25,031,993 (GRCm39)	K3E	probably benign	Het
Mitf	C	T	6: 97,973,429 (GRCm39)	T229M	probably damaging	Het
Ms4a20	T	C	19: 11,079,276 (GRCm39)	M131V	possibly damaging	Het
Muc16	T	C	9: 18,566,655 (GRCm39)	I1955V	unknown	Het
Naip1	A	G	13: 100,563,690 (GRCm39)	C492R	probably damaging	Het
Ncor2	C	T	5: 125,132,910 (GRCm39)	A26T	probably damaging	Het
Ngfr	T	G	11: 95,468,883 (GRCm39)	D165A	probably damaging	Het
Nobox	A	T	6: 43,282,103 (GRCm39)	S323R	probably damaging	Het
Or51ac3	T	C	7: 103,214,346 (GRCm39)	I47V	probably benign	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or8g23	A	G	9: 38,971,492 (GRCm39)	S157P	probably benign	Het
Pcdhb1	G	T	18: 37,398,306 (GRCm39)	V86F	possibly damaging	Het
Pdk1	A	G	2: 71,713,850 (GRCm39)	E165G	probably benign	Het
Peak1	C	T	9: 56,166,567 (GRCm39)	V454I	probably benign	Het
Rad9b	C	T	5: 122,482,360 (GRCm39)	G125D	probably damaging	Het
S100a16	T	C	3: 90,449,381 (GRCm39)	F19L	probably damaging	Het
Serpine2	T	C	1: 79,788,388 (GRCm39)	K190E	probably damaging	Het
Slf1	A	T	13: 77,274,799 (GRCm39)	M12K	probably damaging	Het
Tex101	T	C	7: 24,367,738 (GRCm39)	T205A	possibly damaging	Het
Tssk5	T	C	15: 76,257,916 (GRCm39)	E147G	probably damaging	Het
Ubr4	A	G	4: 139,144,675 (GRCm39)	T1495A	probably damaging	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Wdr70	A	T	15: 8,108,638 (GRCm39)		probably null	Het
Zfp811	T	A	17: 33,016,348 (GRCm39)		probably null	Het
Zscan10	T	A	17: 23,826,103 (GRCm39)	F88L	probably damaging	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
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
R7882:Acadm	UTSW	3	153,644,250 (GRCm39)	nonsense	probably null
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'- AAGTTACCGGGAGCCAACTG -3'
(R):5'- CCATACAGATGCTGTGCTTGC -3'

Sequencing Primer
(F):5'- CAACTGTGGGCGGTGTC -3'
(R):5'- TGTGGAACTCTCAGTACATGCAGC -3'

Posted On

2017-08-16