Mutagenetix > Incidental Mutation

Incidental Mutation 'R6896:Acadm'

538318

Institutional Source

Beutler Lab

Gene Symbol

Acadm

Ensembl Gene

ENSMUSG00000062908

Gene Name

acyl-Coenzyme A dehydrogenase, medium chain

Synonyms

MCAD

MMRRC Submission

044990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153627994-153650269 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153641957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 192 (I192V)

Ref Sequence

ENSEMBL: ENSMUSP00000072483 (fasta)

Gene Model

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

AlphaFold

P45952

Predicted Effect

probably damaging
Transcript: ENSMUST00000072697
AA Change: I192V

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

SMART Domains

Protein: ENSMUSP00000072483
Gene: ENSMUSG00000062908
AA Change: I192V

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 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 benign
Transcript: ENSMUST00000156310

SMART Domains

Protein: ENSMUSP00000122989
Gene: ENSMUSG00000062908

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

Meta Mutation Damage Score

0.3815

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

98% (49/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,660,298 (GRCm39)	L454P	probably damaging	Het
Acadsb	T	A	7: 131,045,375 (GRCm39)	Y436N	probably benign	Het
Ache	G	A	5: 137,289,996 (GRCm39)	V442M	probably damaging	Het
Adam39	A	T	8: 41,277,975 (GRCm39)	N122I	possibly damaging	Het
Akap6	A	T	12: 52,934,277 (GRCm39)	I590F	probably benign	Het
Akap8	T	C	17: 32,536,305 (GRCm39)	N36S	probably benign	Het
Asap2	T	C	12: 21,315,526 (GRCm39)	S933P	probably damaging	Het
C3	C	T	17: 57,527,864 (GRCm39)		probably null	Het
Cdon	T	A	9: 35,363,402 (GRCm39)	M1K	probably null	Het
Cemip	T	A	7: 83,647,784 (GRCm39)	I99F	probably damaging	Het
Cfap251	A	G	5: 123,416,421 (GRCm39)	T565A	possibly damaging	Het
Cfap58	T	G	19: 47,932,626 (GRCm39)	L130R	probably damaging	Het
Clca3a2	T	C	3: 144,514,462 (GRCm39)	D415G	probably damaging	Het
Coch	A	G	12: 51,649,652 (GRCm39)	D321G	possibly damaging	Het
Dync2i1	C	T	12: 116,193,291 (GRCm39)	G554R	possibly damaging	Het
Efcab11	A	G	12: 99,849,674 (GRCm39)		probably benign	Het
Ermap	G	T	4: 119,044,328 (GRCm39)	S156*	probably null	Het
Fap	G	T	2: 62,334,944 (GRCm39)	Y620*	probably null	Het
Galntl5	T	C	5: 25,394,947 (GRCm39)		probably null	Het
Il21r	C	A	7: 125,226,128 (GRCm39)	H76N	probably damaging	Het
Itpr1	T	G	6: 108,458,355 (GRCm39)	Y2041D	probably damaging	Het
Megf8	T	A	7: 25,029,357 (GRCm39)	N300K	probably benign	Het
Muc2	G	A	7: 141,306,432 (GRCm39)	V285I	possibly damaging	Het
Myh15	A	T	16: 48,933,434 (GRCm39)	Q623L	probably benign	Het
Myh7b	T	C	2: 155,464,488 (GRCm39)		probably null	Het
Naaladl1	T	A	19: 6,159,335 (GRCm39)		probably null	Het
Nlrp9b	T	G	7: 19,757,170 (GRCm39)	F136V	probably damaging	Het
Oprd1	A	T	4: 131,844,612 (GRCm39)	M132K	probably damaging	Het
Or10a3b	T	C	7: 108,444,750 (GRCm39)	T156A	probably benign	Het
Or4s2b	A	G	2: 88,508,340 (GRCm39)	N47S	probably damaging	Het
Or6c70	A	T	10: 129,710,623 (GRCm39)	M1K	probably null	Het
Or9g4	A	G	2: 85,505,277 (GRCm39)	Y73H	probably damaging	Het
Patj	T	A	4: 98,314,287 (GRCm39)	V369D	possibly damaging	Het
Pcdhb3	T	C	18: 37,434,265 (GRCm39)	L77P	probably damaging	Het
Pcf11	T	C	7: 92,298,759 (GRCm39)	D1259G	probably damaging	Het
Pdcl	A	T	2: 37,242,191 (GRCm39)	H186Q	probably damaging	Het
Pdzd9	A	T	7: 120,262,095 (GRCm39)	*77R	probably null	Het
Reln	C	T	5: 22,104,177 (GRCm39)	E3265K	probably benign	Het
Smg8	T	C	11: 86,968,787 (GRCm39)	T990A	possibly damaging	Het
Smok2a	C	T	17: 13,444,758 (GRCm39)	H112Y	probably benign	Het
Spatc1l	G	A	10: 76,405,242 (GRCm39)	R208H	probably damaging	Het
Taf7	T	C	18: 37,775,733 (GRCm39)	D278G	possibly damaging	Het
Vipas39	T	C	12: 87,289,345 (GRCm39)	N373S	probably benign	Het
Vmn2r78	C	T	7: 86,571,558 (GRCm39)	T456I	probably benign	Het
Vwf	T	C	6: 125,543,157 (GRCm39)	S148P	probably damaging	Het
Xpot	A	C	10: 121,449,390 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,348,031 (GRCm39)	R2137W	probably damaging	Het
Zfp462	T	A	4: 55,009,544 (GRCm39)	N503K	possibly damaging	Het
Zfp641	T	A	15: 98,191,684 (GRCm39)	M1L	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
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'- AGGGCTTAAAATAGTTCATGAGTCACC -3'
(R):5'- TTACTGCCTTCAAAGACAAAATGCC -3'

Sequencing Primer
(F):5'- GAGTCACCGAGTTATTTATAATCTCC -3'
(R):5'- GCTCACTGGTAGAACCCTAGTTAG -3'

Posted On

2018-11-06