Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03256:Oxct2a'

414652

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: 0.103) question?

Stock #

IGL03256

Quality Score

Status

Chromosome

Chromosomal Location

123215668-123217427 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123216758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 208 (A208T)

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 damaging
Transcript: ENSMUST00000102640
AA Change: A208T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099700
Gene: ENSMUSG00000076436
AA Change: A208T

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 73,199,043 (GRCm39)	T150I	probably benign	Het
Adam2	T	C	14: 66,291,280 (GRCm39)	N333D	probably benign	Het
Aifm3	G	A	16: 17,324,174 (GRCm39)	R578Q	probably benign	Het
Arid2	C	A	15: 96,268,643 (GRCm39)	Q919K	probably benign	Het
Atp6v1a	T	C	16: 43,931,451 (GRCm39)		probably benign	Het
Bicd1	A	T	6: 149,415,083 (GRCm39)	T599S	probably benign	Het
Bltp1	T	C	3: 36,960,832 (GRCm39)		probably benign	Het
Catsperg2	T	A	7: 29,409,299 (GRCm39)	R601W	probably damaging	Het
Clca3a2	A	C	3: 144,792,153 (GRCm39)	S369R	possibly damaging	Het
Cyfip1	T	G	7: 55,557,182 (GRCm39)	V795G	possibly damaging	Het
Ddb1	A	G	19: 10,599,225 (GRCm39)	T544A	probably benign	Het
Defb43	T	C	14: 63,255,329 (GRCm39)	I54T	probably damaging	Het
Dera	A	G	6: 137,756,643 (GRCm39)	M89V	probably benign	Het
Fam227b	T	A	2: 125,830,923 (GRCm39)	K427I	probably damaging	Het
Frk	A	G	10: 34,483,838 (GRCm39)	I400V	probably benign	Het
Gk5	T	A	9: 96,011,106 (GRCm39)	L72H	probably damaging	Het
Gprc6a	T	A	10: 51,504,445 (GRCm39)	Y133F	possibly damaging	Het
Hecw1	A	G	13: 14,455,069 (GRCm39)	L662P	probably damaging	Het
Hecw1	G	T	13: 14,455,070 (GRCm39)	L662M	probably benign	Het
Il12b	T	A	11: 44,298,757 (GRCm39)	S71T	probably benign	Het
Kdm2a	A	T	19: 4,395,538 (GRCm39)		probably benign	Het
Lhfpl6	A	G	3: 52,950,974 (GRCm39)	R83G	possibly damaging	Het
Magel2	C	A	7: 62,030,162 (GRCm39)	T1022K	unknown	Het
Mycbp2	C	A	14: 103,426,025 (GRCm39)	V2367F	possibly damaging	Het
Nap1l3	C	T	X: 121,305,905 (GRCm39)	G271D	probably benign	Het
Nars2	T	A	7: 96,689,117 (GRCm39)	D346E	possibly damaging	Het
Nek11	T	A	9: 105,121,613 (GRCm39)	E435D	probably damaging	Het
Nfam1	C	T	15: 82,894,611 (GRCm39)	G205R	probably benign	Het
Or10aa1	T	C	1: 173,869,774 (GRCm39)	L86P	probably damaging	Het
Or1e35	A	T	11: 73,797,522 (GRCm39)	N265K	probably benign	Het
Or5b118	T	A	19: 13,448,631 (GRCm39)	M99K	probably damaging	Het
Otud3	G	A	4: 138,636,928 (GRCm39)	R78W	probably damaging	Het
Pcdh11x	A	T	X: 119,310,607 (GRCm39)	E683D	probably benign	Het
Phtf2	C	A	5: 21,008,250 (GRCm39)	V144L	probably damaging	Het
Pkn2	T	C	3: 142,509,311 (GRCm39)		probably null	Het
Puf60	T	A	15: 75,942,445 (GRCm39)	D459V	possibly damaging	Het
Ralgapa2	A	G	2: 146,302,632 (GRCm39)		probably null	Het
Rapgef6	A	C	11: 54,548,255 (GRCm39)	Q813P	probably damaging	Het
Rsf1	A	T	7: 97,328,211 (GRCm39)	D1071V	possibly damaging	Het
Sctr	T	C	1: 119,959,289 (GRCm39)		probably benign	Het
Serpini1	A	G	3: 75,526,481 (GRCm39)	I244M	probably benign	Het
Tada2a	C	A	11: 83,978,018 (GRCm39)		probably benign	Het
Tada3	A	T	6: 113,352,092 (GRCm39)	H112Q	possibly damaging	Het
Tnxb	T	A	17: 34,907,694 (GRCm39)	L1246Q	probably damaging	Het
Txndc16	T	C	14: 45,389,353 (GRCm39)	N449S	probably damaging	Het
Usp34	T	A	11: 23,370,090 (GRCm39)	Y1771*	probably null	Het
Vav2	A	T	2: 27,161,912 (GRCm39)		probably null	Het
Virma	T	C	4: 11,542,207 (GRCm39)		probably benign	Het
Vmn1r78	T	A	7: 11,886,725 (GRCm39)	I112N	probably damaging	Het
Vnn3	A	T	10: 23,727,698 (GRCm39)		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
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

2016-08-02