Mutagenetix > Incidental Mutation

Incidental Mutation 'R7334:Acadm'

569352

Institutional Source

Beutler Lab

Gene Symbol

Acadm

Ensembl Gene

ENSMUSG00000062908

Gene Name

acyl-Coenzyme A dehydrogenase, medium chain

Synonyms

MCAD

MMRRC Submission

045371-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153922357-153944632 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 153939061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 9 (S9*)

Ref Sequence

ENSEMBL: ENSMUSP00000121714 (fasta)

Gene Model

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

AlphaFold

P45952

Predicted Effect

probably benign
Transcript: ENSMUST00000072697

SMART Domains

Protein: ENSMUSP00000072483
Gene: ENSMUSG00000062908

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: S9*

SMART Domains

Protein: ENSMUSP00000121714
Gene: ENSMUSG00000062908
AA Change: S9*

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

silent
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot10	C	T	15: 20,665,543 (GRCm38)	V371I	possibly damaging	Het
Adam8	T	C	7: 139,988,990 (GRCm38)	E199G	probably damaging	Het
Aldh18a1	A	T	19: 40,551,252 (GRCm38)	W762R	probably damaging	Het
Aldh1a1	T	A	19: 20,621,711 (GRCm38)	V162E	probably damaging	Het
Alms1	A	G	6: 85,641,450 (GRCm38)	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,184,460 (GRCm38)	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,243,177 (GRCm38)	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,919,734 (GRCm38)	D34E	probably damaging	Het
Cacfd1	C	T	2: 27,015,546 (GRCm38)	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,721,600 (GRCm38)	S345I	probably benign	Het
Clca3b	G	A	3: 144,836,656 (GRCm38)	R462*	probably null	Het
Cyp26c1	G	A	19: 37,688,875 (GRCm38)	V251I	probably benign	Het
Dip2a	A	G	10: 76,274,246 (GRCm38)	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,127,006 (GRCm38)	L27P	probably damaging	Het
Dock7	A	G	4: 98,975,943 (GRCm38)	V1288A	unknown	Het
Elmod1	A	T	9: 53,934,224 (GRCm38)		probably null	Het
Epb41l5	T	G	1: 119,623,949 (GRCm38)	K102T	probably damaging	Het
Fam92b	T	C	8: 120,174,850 (GRCm38)	T39A	probably damaging	Het
Fermt3	T	C	19: 7,003,038 (GRCm38)	I358V	probably benign	Het
Frmd3	A	G	4: 74,161,718 (GRCm38)	I316V	probably benign	Het
Fryl	T	C	5: 73,047,496 (GRCm38)		probably null	Het
Gm12394	G	A	4: 42,793,856 (GRCm38)	T92I	possibly damaging	Het
Gm4131	T	A	14: 62,464,907 (GRCm38)	H204L	possibly damaging	Het
Gm8298	T	A	3: 59,868,959 (GRCm38)	C184S	probably damaging	Het
Hmcn2	G	A	2: 31,435,794 (GRCm38)	G4278R	probably damaging	Het
Hmcn2	A	G	2: 31,453,135 (GRCm38)	S4558G	possibly damaging	Het
Igkv1-132	A	G	6: 67,760,124 (GRCm38)	T25A	probably benign	Het
Kcp	T	C	6: 29,485,512 (GRCm38)	E1161G	probably damaging	Het
Macf1	A	T	4: 123,399,442 (GRCm38)	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,006,718 (GRCm38)	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,368,370 (GRCm38)	V270E	probably damaging	Het
Mroh1	A	G	15: 76,427,638 (GRCm38)	I524V	probably benign	Het
Mta1	T	C	12: 113,126,798 (GRCm38)	S175P	possibly damaging	Het
Myo7a	C	T	7: 98,079,366 (GRCm38)	R800H	probably benign	Het
Ncald	T	A	15: 37,397,280 (GRCm38)	Y52F	probably damaging	Het
Nomo1	T	C	7: 46,083,268 (GRCm38)	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,487,037 (GRCm38)	F66L	probably benign	Het
Nrf1	T	C	6: 30,118,971 (GRCm38)	L363S	probably benign	Het
Olfr732	C	A	14: 50,281,579 (GRCm38)	V225F	probably benign	Het
Olfr875	A	T	9: 37,772,997 (GRCm38)	I113F	probably damaging	Het
Osbpl3	A	G	6: 50,344,906 (GRCm38)	M300T	possibly damaging	Het
Parpbp	T	A	10: 88,111,755 (GRCm38)	N339I	probably damaging	Het
Pdlim5	A	T	3: 142,244,917 (GRCm38)	H578Q	probably damaging	Het
Pear1	T	C	3: 87,750,225 (GRCm38)	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,311,503 (GRCm38)	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,599,681 (GRCm38)	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 29,293,262 (GRCm38)	S130P	probably damaging	Het
Prss12	A	C	3: 123,487,131 (GRCm38)	L488F	probably benign	Het
Psd3	C	T	8: 67,908,705 (GRCm38)	V559I	possibly damaging	Het
Rrh	T	C	3: 129,808,982 (GRCm38)	T364A	probably benign	Het
Shcbp1	A	C	8: 4,754,310 (GRCm38)	F200C	probably damaging	Het
Shcbp1	A	T	8: 4,741,876 (GRCm38)	M479K	probably damaging	Het
Slc9a3r1	C	T	11: 115,163,767 (GRCm38)	A81V	possibly damaging	Het
Slx1b	G	T	7: 126,692,527 (GRCm38)	R122S	probably damaging	Het
Spidr	A	G	16: 16,114,825 (GRCm38)		probably null	Het
St18	G	A	1: 6,802,559 (GRCm38)	D173N	probably benign	Het
Stambpl1	T	C	19: 34,226,648 (GRCm38)	I46T	probably damaging	Het
Syne1	C	T	10: 5,057,886 (GRCm38)	D113N	probably damaging	Het
Tg	G	A	15: 66,725,272 (GRCm38)	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,195,275 (GRCm38)	W1544R	probably benign	Het
Tiam2	G	A	17: 3,503,008 (GRCm38)	R1120H	possibly damaging	Het
Tinag	A	T	9: 77,001,649 (GRCm38)	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,293,089 (GRCm38)	A64G	probably damaging	Het
Tmprss6	A	G	15: 78,443,817 (GRCm38)	Y572H	unknown	Het
Tnfrsf11a	G	A	1: 105,827,129 (GRCm38)	A309T	possibly damaging	Het
Txndc11	A	G	16: 11,128,561 (GRCm38)	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,415,681 (GRCm38)	F974S	possibly damaging	Het
Utrn	C	A	10: 12,728,009 (GRCm38)		probably null	Het
Vmn1r58	T	A	7: 5,411,067 (GRCm38)	M55L	probably benign	Het
Vnn1	T	A	10: 23,900,760 (GRCm38)	S336R	probably benign	Het
Wwc2	T	C	8: 47,869,794 (GRCm38)	Y424C	unknown	Het
Zfp507	T	C	7: 35,776,080 (GRCm38)	I903V	probably damaging	Het
Zfp551	C	T	7: 12,416,754 (GRCm38)	G243R	probably damaging	Het
Zfp60	T	A	7: 27,749,019 (GRCm38)	C371S	probably damaging	Het

Other mutations in Acadm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02452:Acadm	APN	3	153,941,970 (GRCm38)	missense	probably damaging	1.00
IGL02598:Acadm	APN	3	153,938,544 (GRCm38)	splice site	probably benign
IGL02642:Acadm	APN	3	153,939,083 (GRCm38)	missense	probably damaging	1.00
R0092:Acadm	UTSW	3	153,941,875 (GRCm38)	splice site	probably benign
R0270:Acadm	UTSW	3	153,936,324 (GRCm38)	missense	possibly damaging	0.89
R1543:Acadm	UTSW	3	153,929,572 (GRCm38)	missense	probably damaging	1.00
R1868:Acadm	UTSW	3	153,930,252 (GRCm38)	missense	probably benign	0.03
R1955:Acadm	UTSW	3	153,929,551 (GRCm38)	missense	probably damaging	0.97
R2281:Acadm	UTSW	3	153,933,043 (GRCm38)	missense	possibly damaging	0.75
R3774:Acadm	UTSW	3	153,933,097 (GRCm38)	missense	probably benign
R4768:Acadm	UTSW	3	153,922,942 (GRCm38)	missense	probably benign	0.00
R4994:Acadm	UTSW	3	153,929,584 (GRCm38)	missense	probably damaging	1.00
R5194:Acadm	UTSW	3	153,933,118 (GRCm38)	missense	possibly damaging	0.63
R5523:Acadm	UTSW	3	153,938,636 (GRCm38)	missense	probably benign	0.13
R5927:Acadm	UTSW	3	153,939,108 (GRCm38)	missense	probably damaging	1.00
R6109:Acadm	UTSW	3	153,941,943 (GRCm38)	missense	probably damaging	1.00
R6223:Acadm	UTSW	3	153,938,549 (GRCm38)	splice site	probably null
R6896:Acadm	UTSW	3	153,936,320 (GRCm38)	missense	probably damaging	0.99
R7108:Acadm	UTSW	3	153,925,800 (GRCm38)	nonsense	probably null
R7182:Acadm	UTSW	3	153,941,881 (GRCm38)	critical splice donor site	probably null
R7440:Acadm	UTSW	3	153,922,989 (GRCm38)	missense	probably damaging	1.00
R7882:Acadm	UTSW	3	153,938,613 (GRCm38)	nonsense	probably null
R8170:Acadm	UTSW	3	153,944,398 (GRCm38)	missense	possibly damaging	0.93
R8405:Acadm	UTSW	3	153,929,528 (GRCm38)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAGGCTTACCGCAACTTTC -3'
(R):5'- GAGGTCAGAAGCTTACCTCTTG -3'

Sequencing Primer
(F):5'- AACTTTCCGGAATGTGCGC -3'
(R):5'- TCTGCAGAACAGCTTCATGG -3'

Posted On

2019-09-13