Mutagenetix > Incidental Mutation

Incidental Mutation 'R3930:Oxct1'

308442

Institutional Source

Beutler Lab

Gene Symbol

Oxct1

Ensembl Gene

ENSMUSG00000022186

Gene Name

3-oxoacid CoA transferase 1

Synonyms

Scot-s, 2610008O03Rik

MMRRC Submission

040917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3930 (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 4066601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 72 (N72K)

Ref Sequence

ENSEMBL: ENSMUSP00000106318 (fasta)

Gene Model

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

AlphaFold

Q9D0K2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110690
AA Change: N72K

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: N72K

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 benign
Transcript: ENSMUST00000138927
AA Change: N72K

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: N72K

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

0.1264

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

100% (58/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	C	T	4: 144,396,698 (GRCm39)	E345K	probably damaging	Het
Bpifb1	A	G	2: 154,057,242 (GRCm39)	N400S	possibly damaging	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Crhr1	T	A	11: 104,044,377 (GRCm39)	S22T	probably benign	Het
Cyp4a10	G	T	4: 115,381,980 (GRCm39)	V221L	probably benign	Het
D1Pas1	G	T	1: 186,700,477 (GRCm39)	W135C	probably damaging	Het
Dcbld2	T	C	16: 58,285,701 (GRCm39)	L620P	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnm3	T	C	1: 161,911,699 (GRCm39)	D66G	probably damaging	Het
Fzd10	G	A	5: 128,679,476 (GRCm39)	V399M	probably damaging	Het
Gm10801	T	A	2: 98,494,361 (GRCm39)	I146N	possibly damaging	Het
Gm525	T	A	11: 88,965,830 (GRCm39)		probably null	Het
Gpr37l1	T	C	1: 135,089,100 (GRCm39)	I322V	probably benign	Het
Grid2ip	T	G	5: 143,371,794 (GRCm39)	S679R	probably damaging	Het
Gyg1	A	T	3: 20,209,189 (GRCm39)	S15T	probably benign	Het
Hace1	G	A	10: 45,587,604 (GRCm39)	C901Y	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hp1bp3	C	T	4: 137,949,018 (GRCm39)	A27V	probably benign	Het
Hsf5	A	G	11: 87,522,508 (GRCm39)	Y367C	probably damaging	Het
Igf2r	T	C	17: 12,924,716 (GRCm39)	I1034V	probably benign	Het
Itpr1	A	G	6: 108,371,802 (GRCm39)	T1159A	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc14	T	C	15: 76,597,765 (GRCm39)	V165A	probably benign	Het
Lrrc45	C	T	11: 120,609,503 (GRCm39)	A422V	probably benign	Het
Lrrk2	T	A	15: 91,651,664 (GRCm39)		probably null	Het
Map3k4	T	C	17: 12,454,880 (GRCm39)	H1370R	possibly damaging	Het
Mpo	A	G	11: 87,691,866 (GRCm39)	Y433C	probably damaging	Het
Nfkbil1	G	T	17: 35,439,932 (GRCm39)	Q194K	probably benign	Het
Nin	C	T	12: 70,125,016 (GRCm39)	G102E	probably damaging	Het
Nmt1	T	C	11: 102,943,059 (GRCm39)	V138A	probably benign	Het
Optc	T	A	1: 133,828,920 (GRCm39)	R176*	probably null	Het
Or10aa3	A	T	1: 173,878,076 (GRCm39)	I46F	probably damaging	Het
Or4c110	A	G	2: 88,832,377 (GRCm39)	F85S	probably benign	Het
Or52ae9	A	C	7: 103,389,794 (GRCm39)	Y218D	probably damaging	Het
Or6n2	T	A	1: 173,897,147 (GRCm39)	F94L	probably damaging	Het
Plxna2	G	A	1: 194,477,218 (GRCm39)	A1243T	probably benign	Het
Rin1	G	T	19: 5,103,002 (GRCm39)	L430F	probably benign	Het
Ros1	A	T	10: 52,070,944 (GRCm39)	S37T	possibly damaging	Het
Rrp36	G	T	17: 46,983,732 (GRCm39)	Q27K	probably damaging	Het
Sez6	T	C	11: 77,867,708 (GRCm39)	I875T	probably damaging	Het
Sfrp5	T	G	19: 42,190,257 (GRCm39)	Y65S	probably damaging	Het
Slc25a54	T	A	3: 109,023,820 (GRCm39)	L472I	probably benign	Het
Slc35d3	T	C	10: 19,724,605 (GRCm39)	E417G	probably damaging	Het
Sumf2	A	G	5: 129,878,820 (GRCm39)	D52G	probably benign	Het
Sympk	A	G	7: 18,781,447 (GRCm39)	N801S	possibly damaging	Het
Taf7l2	G	T	10: 115,948,540 (GRCm39)	Q329K	possibly damaging	Het
Tcstv2c	G	A	13: 120,616,368 (GRCm39)	C69Y	probably damaging	Het
Tmem38b	T	C	4: 53,854,398 (GRCm39)	F210S	probably damaging	Het
Tnks	T	A	8: 35,407,966 (GRCm39)	H254L	probably damaging	Het
Trappc10	A	T	10: 78,046,237 (GRCm39)	V451E	probably benign	Het
Trim43a	A	T	9: 88,465,131 (GRCm39)	I153F	probably benign	Het
Tulp1	T	C	17: 28,572,683 (GRCm39)	N213S	probably damaging	Het
Ubr1	T	C	2: 120,746,951 (GRCm39)	D830G	probably benign	Het
Uqcc3	C	T	19: 8,858,069 (GRCm39)		probably null	Het
Vmn2r26	T	A	6: 124,002,938 (GRCm39)	M116K	probably benign	Het
Zscan12	A	G	13: 21,552,800 (GRCm39)	Q208R	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
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
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'- ACTGACGGCTGTTTATTGCG -3'
(R):5'- GGATTCATGGTCTCTTCTTCTGTAA -3'

Sequencing Primer
(F):5'- ACGGCTGTTTATTGCGTTGATAAG -3'
(R):5'- CAGGCAGGCAGATCCTATTG -3'

Posted On

2015-04-17