Mutagenetix > Incidental Mutation

Incidental Mutation 'R5927:Acadm'

459928

Institutional Source

Beutler Lab

Gene Symbol

Acadm

Ensembl Gene

ENSMUSG00000062908

Gene Name

acyl-Coenzyme A dehydrogenase, medium chain

Synonyms

MCAD

MMRRC Submission

044122-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153627994-153650269 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153644745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 60 (I60F)

Ref Sequence

ENSEMBL: ENSMUSP00000122989 (fasta)

Gene Model

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

AlphaFold

P45952

Predicted Effect

probably damaging
Transcript: ENSMUST00000072697
AA Change: I60F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072483
Gene: ENSMUSG00000062908
AA Change: I60F

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: I60F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122989
Gene: ENSMUSG00000062908
AA Change: I60F

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: ENSMUST00000199342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200250

Meta Mutation Damage Score

0.9560

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd26	A	G	6: 118,484,597 (GRCm39)		probably null	Het
Arhgdib	A	T	6: 136,901,136 (GRCm39)	W198R	probably damaging	Het
Atad5	T	A	11: 80,018,111 (GRCm39)	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,513,619 (GRCm39)	K500*	probably null	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Cmip	A	T	8: 117,984,048 (GRCm39)	T70S	possibly damaging	Het
Col22a1	G	T	15: 71,878,815 (GRCm39)	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,011,428 (GRCm39)	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,093,531 (GRCm39)		probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,431,671 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,335,864 (GRCm39)	T2277S	probably benign	Het
Dysf	T	A	6: 84,184,194 (GRCm39)	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,147,440 (GRCm39)		probably benign	Het
Elp3	A	G	14: 65,819,626 (GRCm39)	Y111H	probably damaging	Het
Eps8l2	A	T	7: 140,936,259 (GRCm39)	Q243L	probably benign	Het
Eri2	C	A	7: 119,385,291 (GRCm39)	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,314,700 (GRCm39)	N614K	probably damaging	Het
Gm5108	T	G	5: 68,134,214 (GRCm39)	I74S	unknown	Het
Gpn1	T	C	5: 31,658,235 (GRCm39)	F130L	probably damaging	Het
Gpr176	T	A	2: 118,203,521 (GRCm39)	I50F	probably benign	Het
Gramd1a	A	G	7: 30,839,246 (GRCm39)	S221P	probably benign	Het
Hivep3	A	G	4: 119,954,305 (GRCm39)	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,856,383 (GRCm39)		noncoding transcript	Het
Itgb2	C	A	10: 77,381,868 (GRCm39)	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,819,988 (GRCm39)	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,799,388 (GRCm39)		probably benign	Het
Kif15	A	G	9: 122,846,326 (GRCm39)	S76G	probably benign	Het
Kpna3	C	T	14: 61,622,096 (GRCm39)	V223I	probably damaging	Het
Krt80	A	G	15: 101,262,089 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,948,808 (GRCm39)	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,882,766 (GRCm39)		probably benign	Het
Map4k3	A	G	17: 80,921,348 (GRCm39)	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,203 (GRCm39)	N255K	possibly damaging	Het
Npat	A	T	9: 53,473,521 (GRCm39)	K438*	probably null	Het
Or4a73	T	A	2: 89,421,444 (GRCm39)	N5I	possibly damaging	Het
P4htm	T	C	9: 108,474,582 (GRCm39)	Y61C	probably damaging	Het
Pgap6	T	C	17: 26,340,972 (GRCm39)	Y692H	probably benign	Het
Polr3h	G	T	15: 81,801,480 (GRCm39)		probably null	Het
Prlr	C	T	15: 10,322,532 (GRCm39)	T176I	probably benign	Het
Psme4	T	G	11: 30,754,294 (GRCm39)	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 100,967,968 (GRCm39)	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792 (GRCm39)	E448G	probably damaging	Het
Rpf1	A	T	3: 146,225,218 (GRCm39)		probably null	Het
Sectm1b	T	C	11: 120,946,500 (GRCm39)	I132V	probably benign	Het
Sestd1	T	A	2: 77,017,503 (GRCm39)	H688L	probably benign	Het
Sidt2	T	C	9: 45,855,752 (GRCm39)	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,018,395 (GRCm39)	K938M	probably damaging	Het
Sin3b	C	A	8: 73,476,506 (GRCm39)	R647S	probably benign	Het
Slc16a14	T	C	1: 84,889,988 (GRCm39)	H439R	possibly damaging	Het
Stc1	T	C	14: 69,269,822 (GRCm39)	V134A	probably benign	Het
Stk11ip	G	A	1: 75,501,335 (GRCm39)	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,384,025 (GRCm39)	A359T	possibly damaging	Het
Thra	G	A	11: 98,654,514 (GRCm39)	V295I	possibly damaging	Het
Tnr	T	C	1: 159,740,336 (GRCm39)	M1170T	probably damaging	Het
Tpcn2	T	A	7: 144,832,521 (GRCm39)	I112F	probably damaging	Het
Trdv2-2	T	C	14: 54,198,998 (GRCm39)	L96P	probably damaging	Het
Trim24	T	A	6: 37,935,504 (GRCm39)	W832R	probably damaging	Het
Usp4	T	G	9: 108,268,959 (GRCm39)	S891A	probably benign	Het
Vmn1r88	A	T	7: 12,912,440 (GRCm39)	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,931,494 (GRCm39)	L60S	probably benign	Het
Wdr74	T	C	19: 8,717,197 (GRCm39)	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,218,653 (GRCm39)		probably benign	Het
Xpo1	A	T	11: 23,218,656 (GRCm39)		probably benign	Het
Zfp850	C	A	7: 27,689,620 (GRCm39)	G196V	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
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
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'- CCCAGGCTCTTTTGATGAGAG -3'
(R):5'- ATTGCTGTATGCTGCCCGAG -3'

Sequencing Primer
(F):5'- CAGGCTCTTTTGATGAGAGGGAAC -3'
(R):5'- TGCCTGAGGTCAGAAGCTTAC -3'

Posted On

2017-02-28