Mutagenetix > Incidental Mutation

Incidental Mutation 'R6225:Oxct1'

504292

Institutional Source

Beutler Lab

Gene Symbol

Oxct1

Ensembl Gene

ENSMUSG00000022186

Gene Name

3-oxoacid CoA transferase 1

Synonyms

Scot-s, 2610008O03Rik

MMRRC Submission

044356-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4055910-4184826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4064812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 50 (V50A)

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: V50A

PolyPhen 2 Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106318
Gene: ENSMUSG00000022186
AA Change: V50A

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: V50A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116343
Gene: ENSMUSG00000022186
AA Change: V50A

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

0.2353

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,870,445 (GRCm39)	H288R	possibly damaging	Het
Adh1	T	C	3: 137,995,565 (GRCm39)	F323L	probably benign	Het
Adss1	A	C	12: 112,600,837 (GRCm39)	H226P	probably damaging	Het
Ahrr	A	G	13: 74,371,031 (GRCm39)	S230P	possibly damaging	Het
Akap9	T	C	5: 4,012,105 (GRCm39)	V936A	probably damaging	Het
B4galnt2	A	G	11: 95,759,268 (GRCm39)	Y339H	probably damaging	Het
Bltp1	T	C	3: 37,002,453 (GRCm39)	V1466A	probably damaging	Het
C4b	C	A	17: 34,957,848 (GRCm39)	G611V	possibly damaging	Het
Cacna1i	A	G	15: 80,205,427 (GRCm39)	M128V	probably damaging	Het
Chia1	T	C	3: 106,038,213 (GRCm39)	S370P	possibly damaging	Het
Cops6	T	C	5: 138,159,673 (GRCm39)	V9A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,059,321 (GRCm39)	I193K	probably benign	Het
Daam2	T	C	17: 49,801,467 (GRCm39)	D90G	probably damaging	Het
Fads3	A	G	19: 10,019,202 (GRCm39)	D36G	probably benign	Het
Fam185a	T	C	5: 21,630,554 (GRCm39)	V130A	probably damaging	Het
Fbn1	A	T	2: 125,172,463 (GRCm39)	N1928K	probably damaging	Het
Fstl3	A	G	10: 79,615,843 (GRCm39)	M110V	probably benign	Het
G2e3	A	G	12: 51,415,919 (GRCm39)	T552A	possibly damaging	Het
Gfra1	G	A	19: 58,226,830 (GRCm39)	T462I	probably damaging	Het
Glrx2	T	A	1: 143,621,121 (GRCm39)		probably benign	Het
Gm10100	G	T	10: 77,562,498 (GRCm39)	C60F	possibly damaging	Het
Gm43302	T	A	5: 105,425,605 (GRCm39)	K275*	probably null	Het
Gm6569	A	G	15: 73,711,640 (GRCm39)		probably benign	Het
Herc6	G	T	6: 57,639,139 (GRCm39)	V867L	possibly damaging	Het
Hhipl2	T	A	1: 183,209,459 (GRCm39)		probably null	Het
Kcnj16	A	T	11: 110,916,378 (GRCm39)	K347*	probably null	Het
Kcnt2	T	A	1: 140,354,661 (GRCm39)	C305*	probably null	Het
Large2	A	G	2: 92,196,825 (GRCm39)	L477P	probably damaging	Het
Lnpep	T	C	17: 17,799,245 (GRCm39)	T137A	possibly damaging	Het
Mettl3	T	C	14: 52,534,215 (GRCm39)		probably null	Het
Mical3	C	T	6: 120,935,684 (GRCm39)	S1614N	probably damaging	Het
Mmut	T	A	17: 41,249,622 (GRCm39)	V199E	possibly damaging	Het
Morc3	C	A	16: 93,642,082 (GRCm39)	Y100*	probably null	Het
Mrc2	A	G	11: 105,237,646 (GRCm39)	K1108R	probably benign	Het
Mrpl2	T	C	17: 46,960,835 (GRCm39)	V243A	probably damaging	Het
Mtor	T	A	4: 148,605,794 (GRCm39)	N1505K	probably benign	Het
Myo1g	A	T	11: 6,469,168 (GRCm39)	Y45N	probably damaging	Het
Nckap5l	C	A	15: 99,325,905 (GRCm39)	L199F	possibly damaging	Het
Ndufc2	A	G	7: 97,056,099 (GRCm39)	T66A	probably damaging	Het
Nos1	T	A	5: 118,050,917 (GRCm39)	H779Q	probably damaging	Het
Or12e13	A	G	2: 87,663,661 (GRCm39)	T93A	probably benign	Het
Or13j1	T	C	4: 43,705,698 (GRCm39)	Y290C	probably damaging	Het
Or1e23	T	C	11: 73,407,831 (GRCm39)	N65D	probably damaging	Het
Or4c3	A	G	2: 89,851,573 (GRCm39)		probably null	Het
Or51ah3	A	T	7: 103,210,489 (GRCm39)	R268S	probably benign	Het
Or5au1	C	A	14: 52,272,825 (GRCm39)	V248L	possibly damaging	Het
Or5k16	T	C	16: 58,736,545 (GRCm39)	N153S	probably benign	Het
Otog	C	T	7: 45,898,458 (GRCm39)	T192I	possibly damaging	Het
P3h2	T	A	16: 25,784,493 (GRCm39)	D667V	probably damaging	Het
Pcdhb20	A	G	18: 37,638,047 (GRCm39)	Y191C	probably damaging	Het
Pds5b	T	G	5: 150,670,083 (GRCm39)	V357G	probably damaging	Het
Pggt1b	A	G	18: 46,407,674 (GRCm39)	V81A	possibly damaging	Het
Phxr2	A	G	10: 98,962,043 (GRCm39)		probably benign	Het
Pnpt1	T	C	11: 29,095,469 (GRCm39)	I406T	probably benign	Het
Ppat	T	C	5: 77,070,202 (GRCm39)	I173V	probably damaging	Het
Proser3	T	C	7: 30,243,153 (GRCm39)	S167G	probably damaging	Het
Rnf135	A	C	11: 80,080,053 (GRCm39)	T115P	possibly damaging	Het
Rpl22	C	T	4: 152,414,536 (GRCm39)	R65C	probably benign	Het
Scel	T	C	14: 103,829,420 (GRCm39)	F405L	probably benign	Het
Serinc3	A	G	2: 163,469,799 (GRCm39)	Y350H	probably damaging	Het
Slc25a16	C	A	10: 62,764,102 (GRCm39)	T53K	probably damaging	Het
Slco1a1	A	T	6: 141,870,215 (GRCm39)	F308I	possibly damaging	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Smok3c	T	C	5: 138,063,314 (GRCm39)	V267A	probably benign	Het
Ssrp1	A	G	2: 84,873,158 (GRCm39)	D473G	probably benign	Het
Svs6	A	G	2: 164,159,405 (GRCm39)	E56G	possibly damaging	Het
Tas2r130	TCATTTC	T	6: 131,607,547 (GRCm39)		probably benign	Het
Thoc3	T	C	13: 54,615,785 (GRCm39)	N93S	probably benign	Het
Tle6	A	G	10: 81,428,600 (GRCm39)	C443R	probably damaging	Het
Tmed6	A	G	8: 107,788,371 (GRCm39)	F192S	probably damaging	Het
Tpx2	A	G	2: 152,718,548 (GRCm39)	N184D	probably benign	Het
Vmn2r31	T	A	7: 7,397,638 (GRCm39)	N207Y	probably benign	Het
Zfp267	T	C	3: 36,220,352 (GRCm39)	F792L	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp972	A	T	2: 177,549,117 (GRCm39)		probably null	Het
Zzef1	G	A	11: 72,760,631 (GRCm39)	C1318Y	possibly 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
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'- GTGATGTTATAGACTGTGGACATAC -3'
(R):5'- GGTAGAGTGCTAACCTTTCAGG -3'

Sequencing Primer
(F):5'- GGTGTGTCTGCTACTTCTC -3'
(R):5'- CTAACCTTTCAGGAAGAGGCTGTG -3'

Posted On

2018-02-28