Mutagenetix > Incidental Mutation

Incidental Mutation 'R8085:Oxct1'

629619

Institutional Source

Beutler Lab

Gene Symbol

Oxct1

Ensembl Gene

ENSMUSG00000022186

Gene Name

3-oxoacid CoA transferase 1

Synonyms

Scot-s, 2610008O03Rik

MMRRC Submission

067518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8085 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4055910-4184826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4158350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 428 (D428G)

Ref Sequence

ENSEMBL: ENSMUSP00000106318 (fasta)

Gene Model

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

AlphaFold

Q9D0K2

Predicted Effect

probably damaging
Transcript: ENSMUST00000110690
AA Change: D428G

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

SMART Domains

Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: D428G

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

probably damaging
Transcript: ENSMUST00000138927
AA Change: D428G

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

SMART Domains

Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: D428G

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.9%
20x: 96.0%

Validation Efficiency

99% (81/82)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	G	T	9: 30,854,611 (GRCm39)	R160L	probably benign	Het
Atp11b	T	C	3: 35,895,185 (GRCm39)	S908P	probably benign	Het
AW146154	C	T	7: 41,130,621 (GRCm39)	G165D	possibly damaging	Het
AW146154	C	A	7: 41,130,622 (GRCm39)	G165C	probably damaging	Het
Cachd1	G	A	4: 100,845,361 (GRCm39)	G951D	probably damaging	Het
Clstn3	T	C	6: 124,435,683 (GRCm39)	N250D	probably benign	Het
Coch	G	C	12: 51,650,031 (GRCm39)	G340A	possibly damaging	Het
Col18a1	A	G	10: 76,924,741 (GRCm39)	V226A	unknown	Het
Crocc2	G	A	1: 93,130,578 (GRCm39)	R953Q	possibly damaging	Het
Dgkh	A	T	14: 78,824,558 (GRCm39)		probably null	Het
Disp2	C	T	2: 118,617,452 (GRCm39)	L149F	possibly damaging	Het
Dpt	T	C	1: 164,650,756 (GRCm39)	F186S	probably damaging	Het
Eif3l	T	G	15: 78,961,066 (GRCm39)	Y40D	probably damaging	Het
Epha3	A	C	16: 63,403,873 (GRCm39)	Y743D	probably damaging	Het
Ercc6l2	A	T	13: 63,992,367 (GRCm39)	Y272F	probably benign	Het
Exoc2	G	A	13: 31,124,686 (GRCm39)	L9F	probably damaging	Het
Fkbp9	A	G	6: 56,833,289 (GRCm39)	T259A	probably benign	Het
Gm5622	A	T	14: 51,895,201 (GRCm39)	K120M	probably damaging	Het
Hectd1	A	T	12: 51,795,679 (GRCm39)	F2250Y	probably damaging	Het
Herc2	A	G	7: 55,879,427 (GRCm39)	I4682V	probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Kctd1	T	A	18: 15,140,901 (GRCm39)	I610F	possibly damaging	Het
Kif5a	A	T	10: 127,075,178 (GRCm39)	D478E	probably benign	Het
Klf13	G	T	7: 63,541,497 (GRCm39)	A210E	probably damaging	Het
Klhl20	C	A	1: 160,921,354 (GRCm39)	G543C	probably damaging	Het
Krt78	T	C	15: 101,855,715 (GRCm39)	T699A	possibly damaging	Het
Lgr5	A	T	10: 115,311,102 (GRCm39)	D231E	probably benign	Het
Lonrf1	C	A	8: 36,715,769 (GRCm39)	G289W	probably damaging	Het
Lyst	T	C	13: 13,808,894 (GRCm39)	L188P	probably damaging	Het
Mab21l2	T	C	3: 86,455,393 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,303,875 (GRCm39)	V209A	possibly damaging	Het
Mctp1	A	C	13: 76,972,972 (GRCm39)	R658S	probably benign	Het
Mdfi	T	C	17: 48,127,042 (GRCm39)	T178A	probably damaging	Het
Msln	T	A	17: 25,971,942 (GRCm39)	K92*	probably null	Het
Msx3	T	C	7: 139,627,998 (GRCm39)	H113R	unknown	Het
Muc6	T	A	7: 141,226,729 (GRCm39)	T1433S	unknown	Het
Musk	T	A	4: 58,373,110 (GRCm39)	S693R	probably benign	Het
Myh13	A	G	11: 67,225,613 (GRCm39)	K296R	probably benign	Het
Mylip	A	T	13: 45,563,928 (GRCm39)	H427L	possibly damaging	Het
Nradd	G	T	9: 110,451,179 (GRCm39)	T63K	possibly damaging	Het
Ntaq1	T	G	15: 58,015,983 (GRCm39)		probably null	Het
Or5h17	A	G	16: 58,820,432 (GRCm39)	N128S	probably benign	Het
Or5p66	G	T	7: 107,885,620 (GRCm39)	Q238K	probably benign	Het
Osbp2	A	G	11: 3,662,521 (GRCm39)	L187P	probably damaging	Het
Oxsm	G	T	14: 16,242,439 (GRCm38)	S110*	probably null	Het
Pard6a	A	G	8: 106,429,642 (GRCm39)	Q230R	probably damaging	Het
Pkhd1	C	A	1: 20,683,639 (GRCm39)	W38L	probably damaging	Het
Plekhh2	A	G	17: 84,905,384 (GRCm39)	N1093D	probably damaging	Het
Rttn	C	T	18: 89,071,672 (GRCm39)	Q1240*	probably null	Het
Serpina1d	T	C	12: 103,730,087 (GRCm39)	E365G	probably damaging	Het
Sis	A	T	3: 72,814,462 (GRCm39)	H1589Q	probably damaging	Het
Slc40a1	A	T	1: 45,957,528 (GRCm39)	I152N	probably damaging	Het
Slc44a5	C	T	3: 153,928,414 (GRCm39)	P59S	probably damaging	Het
Smarca4	T	A	9: 21,570,108 (GRCm39)		probably null	Het
Smim33	A	T	18: 35,861,573 (GRCm39)	D19V	probably benign	Het
Spag9	A	G	11: 93,989,870 (GRCm39)	Y930C	probably benign	Het
Speg	A	G	1: 75,391,997 (GRCm39)	E1593G	probably damaging	Het
St3gal5	G	T	6: 72,074,925 (GRCm39)	A62S	unknown	Het
Stx1a	T	C	5: 135,066,431 (GRCm39)		probably null	Het
Syne1	T	A	10: 5,178,021 (GRCm39)	I4818F	possibly damaging	Het
Tango6	A	G	8: 107,447,366 (GRCm39)	H588R	probably benign	Het
Tapt1	T	C	5: 44,336,307 (GRCm39)	Y454C	probably damaging	Het
Tep1	A	G	14: 51,066,753 (GRCm39)	Y2282H	probably benign	Het
Tle6	A	T	10: 81,431,792 (GRCm39)	W151R	probably damaging	Het
Tmem131l	A	T	3: 83,834,438 (GRCm39)	M715K	possibly damaging	Het
Ubr1	T	A	2: 120,764,898 (GRCm39)	R519*	probably null	Het
Usp1	A	T	4: 98,816,578 (GRCm39)	N93I	probably damaging	Het
Vmn1r211	A	T	13: 23,035,953 (GRCm39)	M238K	probably damaging	Het
Vmn1r238	A	G	18: 3,123,151 (GRCm39)	Y88H	probably damaging	Het
Vmn2r62	A	G	7: 42,437,270 (GRCm39)	Y405H	probably damaging	Het
Vmn2r78	A	G	7: 86,603,998 (GRCm39)	I725M	probably benign	Het
Zfp12	C	T	5: 143,230,681 (GRCm39)	T368M	probably damaging	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
R5554:Oxct1	UTSW	15	4,120,677 (GRCm39)	missense	probably benign	0.01
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
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'- ACATTGTCCTTTAACCATAGGCTAG -3'
(R):5'- CGTAAGTGCCATCACCTTCTG -3'

Sequencing Primer
(F):5'- TTAACCATAGGCTAGCAGAATAACAG -3'
(R):5'- TCACCTTCTGATGAGCCAGAG -3'

Posted On

2020-06-30