Mutagenetix > Incidental Mutation

Incidental Mutation 'R6611:Oxct2a'

523559

Institutional Source

Beutler Lab

Gene Symbol

Oxct2a

Ensembl Gene

ENSMUSG00000076436

Gene Name

3-oxoacid CoA transferase 2A

Synonyms

Scot-t1, Oxct2

MMRRC Submission

044734-MU

Accession Numbers

Essential gene?

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

Stock #

R6611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123215668-123217427 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123216640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 247 (E247G)

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: E247G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099700
Gene: ENSMUSG00000076436
AA Change: E247G

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	A	T	6: 40,943,713 (GRCm39)	T126S	probably benign	Het
Bex6	A	G	16: 32,005,483 (GRCm39)	K97R	probably benign	Het
Brca2	T	C	5: 150,459,658 (GRCm39)	L311P	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdc16	C	A	8: 13,831,512 (GRCm39)	P582T	probably benign	Het
Cep112	T	C	11: 108,397,377 (GRCm39)	I280T	possibly damaging	Het
Cfhr4	A	G	1: 139,660,128 (GRCm39)	Y666H	probably damaging	Het
Chd2	A	G	7: 73,143,313 (GRCm39)	F527L	probably damaging	Het
Drc3	G	T	11: 60,255,773 (GRCm39)	R120L	probably damaging	Het
Efcab6	T	A	15: 83,777,036 (GRCm39)	R1133S	possibly damaging	Het
Fer1l5	T	C	1: 36,445,735 (GRCm39)	V834A	probably benign	Het
Flnb	A	G	14: 7,915,318 (GRCm38)	Y1483C	probably damaging	Het
Fstl4	A	T	11: 53,077,552 (GRCm39)	M770L	probably benign	Het
Gm10428	A	T	11: 62,644,115 (GRCm39)		probably benign	Het
Hmbs	C	A	9: 44,252,988 (GRCm39)	R15L	probably damaging	Het
Irx3	T	C	8: 92,526,631 (GRCm39)	T358A	probably damaging	Het
Kmt2a	T	A	9: 44,760,569 (GRCm39)	I460L	probably damaging	Het
Mob2	G	T	7: 141,563,293 (GRCm39)	F55L	probably damaging	Het
Muc6	G	C	7: 141,226,700 (GRCm39)		probably benign	Het
Ntrk2	T	C	13: 59,202,228 (GRCm39)	L612P	probably damaging	Het
Obscn	A	G	11: 58,955,056 (GRCm39)		probably null	Het
Or4d5	T	C	9: 40,012,316 (GRCm39)	I157V	probably benign	Het
Or5j1	A	T	2: 86,879,577 (GRCm39)	M1K	probably null	Het
Or8b44	A	T	9: 38,410,534 (GRCm39)	T190S	probably damaging	Het
Phykpl	G	T	11: 51,489,181 (GRCm39)	A336S	probably damaging	Het
Pik3r4	T	G	9: 105,521,476 (GRCm39)	L14R	probably damaging	Het
Pnpla1	A	G	17: 29,100,021 (GRCm39)	N296S	probably benign	Het
Pramel7	A	G	2: 87,320,393 (GRCm39)	I300T	probably damaging	Het
Rictor	T	G	15: 6,780,140 (GRCm39)	C132G	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Slc9a9	G	T	9: 94,821,531 (GRCm39)	R306L	probably benign	Het
Smc5	A	G	19: 23,206,283 (GRCm39)	V681A	probably benign	Het
Snap91	C	T	9: 86,672,180 (GRCm39)	S646N	probably benign	Het
Ssh3	T	C	19: 4,314,450 (GRCm39)	N368S	probably damaging	Het
Syne1	A	T	10: 4,995,273 (GRCm39)	N8326K	probably benign	Het
Traf3	T	G	12: 111,204,074 (GRCm39)	L21R	possibly damaging	Het
Ubxn11	C	A	4: 133,850,910 (GRCm39)	T254K	probably damaging	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
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
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'- CATACATGCCGTCCTGGAACTC -3'
(R):5'- CTAAGTGAGCCGCGAGAAGTAC -3'

Sequencing Primer
(F):5'- CCGCGCGCTTGATGATG -3'
(R):5'- CGAGAAGTACGCGAGTTCC -3'

Posted On

2018-06-22