Mutagenetix > Incidental Mutation

Incidental Mutation 'R3834:Oxct2a'

275528

Institutional Source

Beutler Lab

Gene Symbol

Oxct2a

Ensembl Gene

ENSMUSG00000076436

Gene Name

3-oxoacid CoA transferase 2A

Synonyms

Scot-t1, Oxct2

MMRRC Submission

040889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R3834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123215668-123217427 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123216266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 372 (V372I)

Ref Sequence

ENSEMBL: ENSMUSP00000099700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040496] [ENSMUST00000102640] [ENSMUST00000102641]

AlphaFold

Q9JJN4

Predicted Effect

probably benign
Transcript: ENSMUST00000040496

SMART Domains

Protein: ENSMUSP00000037779
Gene: ENSMUSG00000032726

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TGFb_propeptide	27	248	3.1e-67	PFAM
low complexity region	250	271	N/A	INTRINSIC
TGFB	298	412	2.18e-60	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102640
AA Change: V372I

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

SMART Domains

Protein: ENSMUSP00000099700
Gene: ENSMUSG00000076436
AA Change: V372I

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	18	31	N/A	INTRINSIC
CoA_trans	43	272	2.17e-79	SMART
CoA_trans	301	499	5.07e-71	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102641

SMART Domains

Protein: ENSMUSP00000099701
Gene: ENSMUSG00000032726

Domain	Start	End	E-Value	Type
Pfam:TGFb_propeptide	11	248	2e-57	PFAM
low complexity region	250	271	N/A	INTRINSIC
TGFB	298	399	2e-68	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh6a	G	A	3: 138,033,275 (GRCm39)		probably null	Het
Bptf	T	C	11: 106,964,683 (GRCm39)	T1389A	probably benign	Het
Cfap54	A	G	10: 92,636,985 (GRCm39)		probably benign	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Coq5	G	T	5: 115,422,635 (GRCm39)	G180W	probably damaging	Het
Cyp2d34	A	G	15: 82,500,947 (GRCm39)		probably null	Het
Cyp2j13	C	T	4: 95,944,794 (GRCm39)		probably null	Het
Fam114a1	C	T	5: 65,163,416 (GRCm39)	T197I	possibly damaging	Het
Fbxo44	A	G	4: 148,240,707 (GRCm39)	Y227H	probably damaging	Het
Gm5114	T	A	7: 39,058,161 (GRCm39)	H486L	possibly damaging	Het
Grik4	T	C	9: 42,540,419 (GRCm39)	R254G	probably benign	Het
Iqcm	T	C	8: 76,304,380 (GRCm39)	I47T	possibly damaging	Het
Kif20b	A	G	19: 34,912,428 (GRCm39)	Y278C	probably damaging	Het
Lbhd1	G	A	19: 8,861,421 (GRCm39)	C43Y	probably benign	Het
Lrfn5	T	A	12: 61,886,816 (GRCm39)	D201E	probably damaging	Het
Map1a	G	A	2: 121,137,803 (GRCm39)	G2635D	probably damaging	Het
Ms4a4a	A	T	19: 11,356,219 (GRCm39)	M35L	probably benign	Het
Muc5b	A	T	7: 141,412,918 (GRCm39)	I1955F	unknown	Het
Mug2	T	C	6: 122,026,746 (GRCm39)		probably null	Het
Nav2	T	A	7: 49,195,606 (GRCm39)	I994N	possibly damaging	Het
Ngly1	T	C	14: 16,290,766 (GRCm38)		probably benign	Het
Nr1i2	T	C	16: 38,074,291 (GRCm39)		probably null	Het
Or51f5	A	G	7: 102,424,493 (GRCm39)	Y254C	probably damaging	Het
Or52h9	T	A	7: 104,202,552 (GRCm39)	V142D	probably benign	Het
Or5p69	A	T	7: 107,967,279 (GRCm39)	D194V	probably damaging	Het
Pax6	G	A	2: 105,526,795 (GRCm39)	E234K	probably benign	Het
Pramel14	T	A	4: 143,720,796 (GRCm39)	K48N	probably benign	Het
Prkdc	A	G	16: 15,609,810 (GRCm39)	E3138G	probably damaging	Het
Ptprc	T	A	1: 138,011,305 (GRCm39)	N584I	probably damaging	Het
Ptprt	A	G	2: 161,389,307 (GRCm39)	V1261A	probably damaging	Het
Rps20	A	T	4: 3,834,610 (GRCm39)	I84N	probably damaging	Het
Scd3	A	G	19: 44,230,156 (GRCm39)	Y313C	probably damaging	Het
Sertad2	T	C	11: 20,598,482 (GRCm39)	I226T	probably benign	Het
Slc15a2	A	T	16: 36,592,490 (GRCm39)	C191*	probably null	Het
Slco1a1	G	T	6: 141,889,163 (GRCm39)	Q50K	possibly damaging	Het
Stab2	A	T	10: 86,785,776 (GRCm39)	I622N	possibly damaging	Het
Tmc4	C	T	7: 3,675,006 (GRCm39)	V222M	probably benign	Het
Tmem145	T	C	7: 25,010,786 (GRCm39)	F359L	probably damaging	Het
Tmem238	C	A	7: 4,792,078 (GRCm39)	R155L	possibly damaging	Het
Vmn1r32	C	A	6: 66,530,647 (GRCm39)	C43F	probably benign	Het
Vmn2r104	C	T	17: 20,250,183 (GRCm39)	R696K	probably benign	Het

Other mutations in Oxct2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Oxct2a	APN	4	123,217,183 (GRCm39)	missense	possibly damaging	0.95
IGL03256:Oxct2a	APN	4	123,216,758 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Oxct2a	UTSW	4	123,216,237 (GRCm39)	missense	probably damaging	1.00
R1743:Oxct2a	UTSW	4	123,217,309 (GRCm39)	missense	possibly damaging	0.96
R4659:Oxct2a	UTSW	4	123,216,473 (GRCm39)	missense	probably benign	0.20
R4690:Oxct2a	UTSW	4	123,216,836 (GRCm39)	missense	probably benign	0.08
R4932:Oxct2a	UTSW	4	123,216,496 (GRCm39)	missense	probably benign
R4954:Oxct2a	UTSW	4	123,216,252 (GRCm39)	nonsense	probably null
R5253:Oxct2a	UTSW	4	123,216,886 (GRCm39)	missense	probably damaging	1.00
R5426:Oxct2a	UTSW	4	123,216,506 (GRCm39)	missense	possibly damaging	0.93
R6389:Oxct2a	UTSW	4	123,217,220 (GRCm39)	nonsense	probably null
R6611:Oxct2a	UTSW	4	123,216,640 (GRCm39)	missense	probably damaging	1.00
R7196:Oxct2a	UTSW	4	123,217,165 (GRCm39)	missense	probably damaging	1.00
R7617:Oxct2a	UTSW	4	123,217,150 (GRCm39)	missense	probably damaging	1.00
R8859:Oxct2a	UTSW	4	123,216,322 (GRCm39)	missense	probably benign	0.01
R9186:Oxct2a	UTSW	4	123,216,461 (GRCm39)	missense	probably damaging	0.99
R9462:Oxct2a	UTSW	4	123,216,441 (GRCm39)	missense	probably damaging	0.99
R9612:Oxct2a	UTSW	4	123,217,129 (GRCm39)	missense	probably damaging	0.98
R9689:Oxct2a	UTSW	4	123,216,687 (GRCm39)	missense	probably damaging	1.00
Z1176:Oxct2a	UTSW	4	123,216,331 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCAGTGTTCCATGGTGAC -3'
(R):5'- GAGTTCCAGGACGGCATGTATG -3'

Sequencing Primer
(F):5'- GCAGTGTTCCATGGTGACTACAAC -3'
(R):5'- AAACGGAATCCTGGGCTT -3'

Posted On

2015-04-06