Mutagenetix > Incidental Mutation

Incidental Mutation 'R5554:Oxct1'

435312

Institutional Source

Beutler Lab

Gene Symbol

Oxct1

Ensembl Gene

ENSMUSG00000022186

Gene Name

3-oxoacid CoA transferase 1

Synonyms

Scot-s, 2610008O03Rik

MMRRC Submission

043111-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5554 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4055910-4184826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4120677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 254 (F254I)

Ref Sequence

ENSEMBL: ENSMUSP00000106318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110690] [ENSMUST00000138927]

AlphaFold

Q9D0K2

Predicted Effect

probably benign
Transcript: ENSMUST00000110690
AA Change: F254I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: F254I

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
CoA_trans	43	272	2.41e-86	SMART
low complexity region	286	299	N/A	INTRINSIC
CoA_trans	303	501	5.18e-77	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131240

Predicted Effect

probably benign
Transcript: ENSMUST00000138927
AA Change: F254I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: F254I

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
CoA_trans	43	272	2.41e-86	SMART
low complexity region	286	299	N/A	INTRINSIC
CoA_trans	303	484	3.1e-57	SMART

Meta Mutation Damage Score

0.2391

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperketonemia, ketoacidosis, increased glucose oxidation in the brain, increased autophagy in the brain, and neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,304,807 (GRCm39)	R227L	probably benign	Het
Adamtsl1	A	G	4: 86,195,182 (GRCm39)	Q533R	possibly damaging	Het
Adgb	C	T	10: 10,216,217 (GRCm39)	R1524H	probably damaging	Het
Ank2	A	T	3: 126,792,622 (GRCm39)	N739K	possibly damaging	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Anxa10	G	A	8: 62,514,080 (GRCm39)	P249L	possibly damaging	Het
Banp	G	A	8: 122,718,334 (GRCm39)	E183K	probably damaging	Het
BC051665	C	G	13: 60,932,435 (GRCm39)	L83F	probably damaging	Het
Btn1a1	A	T	13: 23,643,295 (GRCm39)	F385I	possibly damaging	Het
Chchd4	A	T	6: 91,441,999 (GRCm39)	*140R	probably null	Het
Dcpp2	T	C	17: 24,119,545 (GRCm39)	Y120H	probably damaging	Het
Dlx2	G	A	2: 71,375,805 (GRCm39)	R173C	possibly damaging	Het
Dmbt1	C	A	7: 130,701,030 (GRCm39)	Y1069*	probably null	Het
Dop1a	T	A	9: 86,403,710 (GRCm39)	F1637I	probably damaging	Het
Dusp18	T	C	11: 3,847,202 (GRCm39)	I64T	probably damaging	Het
Evi5l	A	G	8: 4,256,491 (GRCm39)		probably benign	Het
Fiz1	T	C	7: 5,015,849 (GRCm39)	H47R	probably damaging	Het
Fndc3b	G	T	3: 27,697,162 (GRCm39)	P17T	possibly damaging	Het
Foxa1	T	A	12: 57,589,077 (GRCm39)	Q381L	probably benign	Het
Gda	A	G	19: 21,405,837 (GRCm39)		probably null	Het
Gm10044	T	C	14: 7,771,181 (GRCm38)		noncoding transcript	Het
Gm12258	T	A	11: 58,749,294 (GRCm39)	S156R	possibly damaging	Het
Gm973	A	G	1: 59,566,131 (GRCm39)	R117G	probably benign	Het
Grwd1	C	T	7: 45,480,064 (GRCm39)	V48I	probably damaging	Het
Ifi209	T	A	1: 173,468,763 (GRCm39)	S198T	probably benign	Het
Inka2	T	A	3: 105,623,930 (GRCm39)	S82R	possibly damaging	Het
Itga1	A	T	13: 115,129,010 (GRCm39)	C549*	probably null	Het
Kmt2c	C	A	5: 25,499,608 (GRCm39)	G511C	probably damaging	Het
Knstrn	T	C	2: 118,664,444 (GRCm39)		probably benign	Het
Lrp2	T	C	2: 69,382,768 (GRCm39)	Y39C	possibly damaging	Het
Maco1	T	C	4: 134,555,445 (GRCm39)	I343V	probably benign	Het
Micos10	T	C	4: 138,833,218 (GRCm39)		probably benign	Het
N4bp2	T	C	5: 65,965,457 (GRCm39)	Y1169H	probably benign	Het
Nbr1	C	T	11: 101,455,633 (GRCm39)	T129I	probably benign	Het
Or52e8	A	C	7: 104,625,189 (GRCm39)	M1R	probably null	Het
Or5k15	A	T	16: 58,710,169 (GRCm39)	M138K	possibly damaging	Het
Or7g25	T	C	9: 19,160,039 (GRCm39)	I219V	probably benign	Het
Patj	T	A	4: 98,342,633 (GRCm39)	S576T	possibly damaging	Het
Pdxdc1	A	T	16: 13,690,363 (GRCm39)	C202S	probably benign	Het
Pet100	A	T	8: 3,672,381 (GRCm39)	I19F	probably damaging	Het
Pik3r5	T	C	11: 68,385,059 (GRCm39)	Y655H	probably damaging	Het
Pkhd1	A	G	1: 20,151,476 (GRCm39)	S3807P	probably damaging	Het
Ptma	A	G	1: 86,454,649 (GRCm39)	T8A	probably damaging	Het
Ptpn3	G	T	4: 57,240,843 (GRCm39)	N257K	probably damaging	Het
R3hdm1	C	A	1: 128,164,409 (GRCm39)	Q1108K	probably benign	Het
Rimbp2	T	C	5: 128,857,406 (GRCm39)	D815G	probably damaging	Het
Scn10a	A	G	9: 119,523,196 (GRCm39)	F66L	probably benign	Het
Selenot	T	C	3: 58,484,296 (GRCm39)		probably null	Het
Serpinb8	A	G	1: 107,526,705 (GRCm39)	T82A	probably benign	Het
Serpini2	G	A	3: 75,175,295 (GRCm39)		probably benign	Het
Slc1a6	G	T	10: 78,631,816 (GRCm39)	G214V	probably benign	Het
Slc5a6	C	A	5: 31,195,444 (GRCm39)	A425S	probably damaging	Het
Smo	C	A	6: 29,736,123 (GRCm39)	N38K	possibly damaging	Het
Smtn	A	T	11: 3,470,811 (GRCm39)	C909*	probably null	Het
Sntg2	C	T	12: 30,308,040 (GRCm39)	R215H	probably benign	Het
Stk4	T	A	2: 163,941,645 (GRCm39)	V287E	probably benign	Het
Tdrd7	A	G	4: 46,005,358 (GRCm39)	D388G	possibly damaging	Het
Ttn	A	T	2: 76,642,652 (GRCm39)	F13294L	probably damaging	Het
Ube2j1	T	G	4: 33,040,745 (GRCm39)	F84V	probably damaging	Het
Ugt3a1	A	G	15: 9,370,287 (GRCm39)	Q477R	probably damaging	Het
Utf1	T	C	7: 139,523,859 (GRCm39)	S25P	probably benign	Het
Vmn1r184	A	T	7: 25,966,413 (GRCm39)	H53L	probably damaging	Het
Vmn2r13	A	T	5: 109,339,860 (GRCm39)	N38K	possibly damaging	Het
Vps13a	C	T	19: 16,699,775 (GRCm39)	D756N	probably damaging	Het
Vwa1	G	T	4: 155,857,695 (GRCm39)	D34E	probably damaging	Het
Zfhx2	A	C	14: 55,301,774 (GRCm39)	L2070R	probably damaging	Het
Zfp984	A	G	4: 147,840,362 (GRCm39)	V163A	probably benign	Het
Zp3r	A	T	1: 130,511,208 (GRCm39)	M325K	probably benign	Het

Other mutations in Oxct1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Oxct1	APN	15	4,125,996 (GRCm39)	missense	probably damaging	0.99
IGL00870:Oxct1	APN	15	4,131,300 (GRCm39)	missense	probably damaging	1.00
IGL01068:Oxct1	APN	15	4,083,246 (GRCm39)	missense	probably damaging	1.00
IGL01681:Oxct1	APN	15	4,131,326 (GRCm39)	missense	possibly damaging	0.80
IGL02040:Oxct1	APN	15	4,056,250 (GRCm39)	utr 5 prime	probably benign
IGL02149:Oxct1	APN	15	4,120,711 (GRCm39)	missense	probably damaging	0.98
IGL02327:Oxct1	APN	15	4,066,571 (GRCm39)	critical splice acceptor site	probably null
IGL03108:Oxct1	APN	15	4,064,764 (GRCm39)	missense	probably benign	0.05
IGL03146:Oxct1	APN	15	4,130,630 (GRCm39)	missense	probably damaging	0.99
IGL03195:Oxct1	APN	15	4,130,671 (GRCm39)	missense	possibly damaging	0.50
kettle	UTSW	15	4,064,812 (GRCm39)	missense	probably benign	0.38
R1169:Oxct1	UTSW	15	4,120,708 (GRCm39)	missense	probably damaging	1.00
R1487:Oxct1	UTSW	15	4,177,057 (GRCm39)	missense	possibly damaging	0.87
R2011:Oxct1	UTSW	15	4,183,243 (GRCm39)	missense	probably benign	0.36
R2069:Oxct1	UTSW	15	4,122,007 (GRCm39)	missense	probably null	0.99
R3691:Oxct1	UTSW	15	4,076,999 (GRCm39)	missense	probably benign	0.02
R3930:Oxct1	UTSW	15	4,066,601 (GRCm39)	missense	possibly damaging	0.92
R3931:Oxct1	UTSW	15	4,066,601 (GRCm39)	missense	possibly damaging	0.92
R5137:Oxct1	UTSW	15	4,064,832 (GRCm39)	missense	probably benign	0.00
R5165:Oxct1	UTSW	15	4,083,251 (GRCm39)	missense	possibly damaging	0.87
R5650:Oxct1	UTSW	15	4,172,332 (GRCm39)	missense	probably damaging	1.00
R6225:Oxct1	UTSW	15	4,064,812 (GRCm39)	missense	probably benign	0.38
R6294:Oxct1	UTSW	15	4,172,304 (GRCm39)	missense	possibly damaging	0.52
R6395:Oxct1	UTSW	15	4,056,309 (GRCm39)	missense	possibly damaging	0.73
R6736:Oxct1	UTSW	15	4,121,899 (GRCm39)	missense	probably benign
R7195:Oxct1	UTSW	15	4,158,383 (GRCm39)	missense	probably damaging	0.99
R7204:Oxct1	UTSW	15	4,123,524 (GRCm39)	missense	probably damaging	1.00
R7810:Oxct1	UTSW	15	4,077,058 (GRCm39)	missense	probably benign	0.01
R8085:Oxct1	UTSW	15	4,158,350 (GRCm39)	missense	probably damaging	1.00
R8702:Oxct1	UTSW	15	4,183,243 (GRCm39)	missense	probably benign	0.36
R8871:Oxct1	UTSW	15	4,064,763 (GRCm39)	missense	probably benign	0.03
R8956:Oxct1	UTSW	15	4,064,806 (GRCm39)	missense	possibly damaging	0.87
Z1177:Oxct1	UTSW	15	4,123,541 (GRCm39)	missense	probably benign	0.02
Z1177:Oxct1	UTSW	15	4,089,473 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GTCACTTTATGTCCTGAATTGTGC -3'
(R):5'- AATGGACTCACAGGAAACTCCG -3'

Sequencing Primer
(F):5'- GGCTCTGAAAAGTCTGGT -3'
(R):5'- CTCCGACTTAAGAGACAGAGTG -3'

Posted On

2016-10-24