Mutagenetix > Incidental Mutation

Incidental Mutation 'R3110:Acads'

263819

Institutional Source

Beutler Lab

Gene Symbol

Acads

Ensembl Gene

ENSMUSG00000029545

Gene Name

acyl-Coenzyme A dehydrogenase, short chain

Synonyms

Bcd1, SCAD, Bcd-1, Hdlq8

MMRRC Submission

040584-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.404) question?

Stock #

R3110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115248358-115257405 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115255757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 26 (H26R)

Ref Sequence

ENSEMBL: ENSMUSP00000031524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031524] [ENSMUST00000060798]

AlphaFold

Q07417

Predicted Effect

probably benign
Transcript: ENSMUST00000031524
AA Change: H26R

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

SMART Domains

Protein: ENSMUSP00000031524
Gene: ENSMUSG00000029545
AA Change: H26R

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:Acyl-CoA_dh_N	35	147	1e-37	PFAM
Pfam:Acyl-CoA_dh_M	151	246	6.1e-28	PFAM
Pfam:Acyl-CoA_dh_1	258	407	3.6e-52	PFAM
Pfam:Acyl-CoA_dh_2	273	396	6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060798

SMART Domains

Protein: ENSMUSP00000055475
Gene: ENSMUSG00000046562

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
Pfam:GMP_PDE_delta	88	247	3.8e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153374

Meta Mutation Damage Score

0.0726

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

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 at C(four)-CoA. In mice, deficiency of this gene has been linked to cold sensitivity and increased high-density lipoprotein levels. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display organic aciduria and develop hypoglycemia and fatty livers after fasting. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,069,655 (GRCm39)	K1554*	probably null	Het
Acer1	G	A	17: 57,265,406 (GRCm39)	T141I	probably damaging	Het
Adam15	C	G	3: 89,254,764 (GRCm39)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,368,331 (GRCm39)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,491,720 (GRCm39)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,694,119 (GRCm39)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,645,721 (GRCm39)	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,002,831 (GRCm39)	W62*	probably null	Het
Ccdc141	C	T	2: 76,869,830 (GRCm39)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm39)	I278K	possibly damaging	Het
Cdc7	T	G	5: 107,122,564 (GRCm39)		probably null	Het
Cpb1	C	T	3: 20,319,521 (GRCm39)	V188M	probably damaging	Het
Dock5	A	G	14: 68,095,371 (GRCm39)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,035,953 (GRCm39)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,938,123 (GRCm39)	D90E	probably damaging	Het
Ebf1	T	A	11: 44,534,225 (GRCm39)		probably benign	Het
Fam135b	T	C	15: 71,335,879 (GRCm39)	I438M	probably benign	Het
Fpr1	A	T	17: 18,096,897 (GRCm39)	M364K	probably benign	Het
Gm9932	A	T	5: 100,346,794 (GRCm39)		unknown	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,260,470 (GRCm39)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,591 (GRCm39)		probably null	Het
Grn	A	G	11: 102,324,069 (GRCm39)	T53A	probably benign	Het
H1f4	T	C	13: 23,805,829 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,440,038 (GRCm39)	Y32C	probably damaging	Het
Hmgxb3	T	C	18: 61,280,454 (GRCm39)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,523,983 (GRCm39)	I367T	probably benign	Het
Itfg2	T	C	6: 128,388,632 (GRCm39)	E285G	probably damaging	Het
Itgav	T	A	2: 83,622,915 (GRCm39)	C662*	probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,075,863 (GRCm39)		probably benign	Het
Lipe	T	C	7: 25,097,848 (GRCm39)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,698,898 (GRCm39)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,582,330 (GRCm39)	D607G	probably damaging	Het
Mip	T	A	10: 128,061,875 (GRCm39)	L42*	probably null	Het
Mlc1	A	T	15: 88,850,199 (GRCm39)	D192E	probably benign	Het
Muc2	T	C	7: 141,299,225 (GRCm39)		probably benign	Het
Mybl1	T	C	1: 9,752,095 (GRCm39)	D260G	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,257,297 (GRCm39)	V305A	probably benign	Het
Nodal	G	A	10: 61,260,276 (GRCm39)	R309Q	possibly damaging	Het
Olr1	T	C	6: 129,476,881 (GRCm39)	N128S	possibly damaging	Het
Or10ak14	A	T	4: 118,611,421 (GRCm39)	F105I	probably damaging	Het
Or12j5	A	G	7: 140,083,832 (GRCm39)	I180T	probably damaging	Het
Or14a256	T	C	7: 86,264,884 (GRCm39)	Y323C	probably benign	Het
Orc1	T	A	4: 108,461,757 (GRCm39)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,496,922 (GRCm39)	I300F	probably damaging	Het
Phactr3	T	A	2: 177,920,810 (GRCm39)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm39)	T612A	probably benign	Het
Plch1	T	A	3: 63,616,952 (GRCm39)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,054,973 (GRCm39)		probably benign	Het
Potefam1	T	G	2: 111,058,399 (GRCm39)	L131F	probably damaging	Het
Ppp1r12b	T	A	1: 134,800,570 (GRCm39)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,116,079 (GRCm39)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,757,112 (GRCm39)		probably benign	Het
Psg23	T	C	7: 18,344,369 (GRCm39)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,358,114 (GRCm39)	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scrib	A	T	15: 75,941,223 (GRCm39)	I5N	probably damaging	Het
Speg	C	T	1: 75,399,326 (GRCm39)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,212,923 (GRCm39)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,434,534 (GRCm39)	T1009A	probably damaging	Het
Syce1l	A	G	8: 114,381,579 (GRCm39)	Q164R	probably benign	Het
Sympk	T	C	7: 18,768,409 (GRCm39)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,844,987 (GRCm39)	I6K	unknown	Het
Tas2r120	A	T	6: 132,634,731 (GRCm39)	H271L	probably damaging	Het
Tlcd3a	A	G	11: 76,093,057 (GRCm39)	D33G	probably benign	Het
Tnn	T	A	1: 159,943,856 (GRCm39)	T986S	possibly damaging	Het
Trim5	T	C	7: 103,928,845 (GRCm39)	H32R	probably damaging	Het
Ttc13	A	G	8: 125,410,573 (GRCm39)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,778,781 (GRCm39)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,268,736 (GRCm39)		probably null	Het
Wee1	T	A	7: 109,730,043 (GRCm39)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,495,771 (GRCm39)	S92P	probably damaging	Het
Zfp1004	C	G	2: 150,034,141 (GRCm39)	P185R	probably damaging	Het
Zfp786	A	G	6: 47,797,160 (GRCm39)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,723,989 (GRCm39)	I283L	possibly damaging	Het

Other mutations in Acads

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02325:Acads	APN	5	115,250,013 (GRCm39)	missense	probably damaging	1.00
IGL02650:Acads	APN	5	115,250,874 (GRCm39)	missense	probably benign	0.17
Academia	UTSW	5	115,249,057 (GRCm39)	missense	probably damaging	1.00
R1871:Acads	UTSW	5	115,255,701 (GRCm39)	missense	probably damaging	0.99
R3112:Acads	UTSW	5	115,255,757 (GRCm39)	missense	probably benign
R4109:Acads	UTSW	5	115,248,913 (GRCm39)	makesense	probably null
R4595:Acads	UTSW	5	115,251,123 (GRCm39)	missense	probably damaging	1.00
R4799:Acads	UTSW	5	115,251,149 (GRCm39)	missense	probably benign	0.41
R6841:Acads	UTSW	5	115,250,417 (GRCm39)	missense	probably benign	0.03
R6932:Acads	UTSW	5	115,250,331 (GRCm39)	missense	probably damaging	1.00
R7380:Acads	UTSW	5	115,249,057 (GRCm39)	missense	probably damaging	1.00
R7381:Acads	UTSW	5	115,249,057 (GRCm39)	missense	probably damaging	1.00
R7436:Acads	UTSW	5	115,249,057 (GRCm39)	missense	probably damaging	1.00
R7792:Acads	UTSW	5	115,250,840 (GRCm39)	missense	probably damaging	1.00
R8061:Acads	UTSW	5	115,255,710 (GRCm39)	missense	probably benign	0.08
R8071:Acads	UTSW	5	115,251,226 (GRCm39)	missense	probably benign	0.13
R9484:Acads	UTSW	5	115,250,845 (GRCm39)	missense	probably damaging	0.99
Z1177:Acads	UTSW	5	115,249,188 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACACTGTGAGCCACTCTGAG -3'
(R):5'- AATCTTGACTTATTGCATAGGCTAGCC -3'

Sequencing Primer
(F):5'- TGAGCCACTCTGAGCCACAC -3'
(R):5'- ATGTTGGGCAGCTCCTAATC -3'

Posted On

2015-02-05