Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00470:Oxct2a'

12890

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Oxct2a

Ensembl Gene

ENSMUSG00000076436

Gene Name

3-oxoacid CoA transferase 2A

Synonyms

Scot-t1, Oxct2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL00470

Quality Score

Status

Chromosome

Chromosomal Location

123215668-123217427 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123217183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 66 (L66P)

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

possibly damaging
Transcript: ENSMUST00000102640
AA Change: L66P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099700
Gene: ENSMUSG00000076436
AA Change: L66P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732463B04Rik	G	T	12: 84,090,578 (GRCm39)		probably benign	Het
Abcd1	T	C	X: 72,761,154 (GRCm39)	L173P	probably damaging	Het
Adam18	T	A	8: 25,118,149 (GRCm39)	D41V	probably damaging	Het
Armh4	A	T	14: 50,010,460 (GRCm39)	S416T	probably damaging	Het
Aspa	T	G	11: 73,204,447 (GRCm39)		probably benign	Het
Cacna2d1	T	A	5: 16,451,654 (GRCm39)		probably benign	Het
Cracd	G	A	5: 77,013,903 (GRCm39)		probably benign	Het
Cubn	T	A	2: 13,283,229 (GRCm39)	I3570L	probably benign	Het
Cyp2j13	G	A	4: 95,950,275 (GRCm39)	P242L	probably damaging	Het
Cysrt1	T	C	2: 25,129,513 (GRCm39)		probably benign	Het
Dchs1	A	T	7: 105,407,414 (GRCm39)	L2100H	probably damaging	Het
Ddb1	G	A	19: 10,589,028 (GRCm39)	A229T	possibly damaging	Het
Dst	A	T	1: 34,228,043 (GRCm39)	I1554F	probably damaging	Het
Dvl3	C	T	16: 20,349,689 (GRCm39)	P554L	probably damaging	Het
Fcgbp	C	A	7: 27,774,511 (GRCm39)	C28*	probably null	Het
Gm773	T	C	X: 55,247,373 (GRCm39)	D53G	probably benign	Het
Hhat	A	G	1: 192,399,325 (GRCm39)	Y272H	probably damaging	Het
Inpp5k	T	C	11: 75,536,351 (GRCm39)	S310P	probably benign	Het
Kat2a	G	A	11: 100,596,210 (GRCm39)	R782W	probably damaging	Het
Kcnh5	T	C	12: 74,944,570 (GRCm39)	D893G	probably benign	Het
Lama2	T	C	10: 27,119,738 (GRCm39)	T709A	probably benign	Het
Mcm8	G	A	2: 132,669,457 (GRCm39)	V281I	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Nup133	T	G	8: 124,665,822 (GRCm39)	D201A	probably damaging	Het
Pcbp2	C	T	15: 102,399,148 (GRCm39)	A224V	probably damaging	Het
Phf8-ps	T	A	17: 33,284,837 (GRCm39)	H655L	probably benign	Het
Pla2g4e	G	A	2: 120,015,719 (GRCm39)	S275F	probably benign	Het
Pxk	T	C	14: 8,130,754 (GRCm38)	F118L	probably damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Sphkap	A	G	1: 83,255,631 (GRCm39)	M706T	possibly damaging	Het
Tars3	T	C	7: 65,338,656 (GRCm39)	M689T	probably benign	Het
Trrap	T	C	5: 144,754,848 (GRCm39)	V2008A	probably damaging	Het
Txndc2	A	T	17: 65,945,569 (GRCm39)	S203T	probably benign	Het
Txnrd1	T	G	10: 82,711,496 (GRCm39)	D42E	probably damaging	Het
Zswim8	G	A	14: 20,773,249 (GRCm39)	D1746N	probably damaging	Het

Other mutations in Oxct2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R3834:Oxct2a	UTSW	4	123,216,266 (GRCm39)	missense	probably benign
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

Posted On

2012-12-06