Mutagenetix > Incidental Mutation

Incidental Mutation 'R7617:Oxct2a'

588952

Institutional Source

Beutler Lab

Gene Symbol

Oxct2a

Ensembl Gene

ENSMUSG00000076436

Gene Name

3-oxoacid CoA transferase 2A

Synonyms

Scot-t1, Oxct2

MMRRC Submission

045684-MU

Accession Numbers

Essential gene?

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

Stock #

R7617 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123215668-123217427 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123217150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 77 (L77R)

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: L77R

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

SMART Domains

Protein: ENSMUSP00000099700
Gene: ENSMUSG00000076436
AA Change: L77R

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,102,694 (GRCm39)	Y864*	probably null	Het
Abhd2	T	C	7: 78,998,032 (GRCm39)	M188T	probably benign	Het
Adamtsl3	T	A	7: 82,206,054 (GRCm39)		probably null	Het
Ankrd36	G	T	11: 5,637,348 (GRCm39)	V1306L	probably benign	Het
Ankrd50	C	A	3: 38,538,831 (GRCm39)		probably benign	Het
Btbd2	T	C	10: 80,482,226 (GRCm39)	D258G	probably damaging	Het
Cabin1	C	T	10: 75,568,277 (GRCm39)	R75K	possibly damaging	Het
Carmil3	A	G	14: 55,735,348 (GRCm39)	N507S	probably benign	Het
Cntn1	A	G	15: 92,143,970 (GRCm39)	E311G	probably damaging	Het
Csnk1a1	T	C	18: 61,718,387 (GRCm39)	M371T	unknown	Het
Dnah1	A	T	14: 31,006,739 (GRCm39)	V2192E	possibly damaging	Het
Entrep3	T	A	3: 89,092,278 (GRCm39)	I199N	probably damaging	Het
Grip2	A	C	6: 91,742,031 (GRCm39)		probably null	Het
Gxylt2	G	T	6: 100,760,146 (GRCm39)	W227L	probably damaging	Het
Ighv6-5	G	T	12: 114,380,626 (GRCm39)		probably benign	Het
Jak1	T	A	4: 101,031,408 (GRCm39)		probably null	Het
Jakmip1	A	G	5: 37,328,345 (GRCm39)	D393G	possibly damaging	Het
Klf10	A	T	15: 38,297,080 (GRCm39)	V320E	probably damaging	Het
Krt87	A	T	15: 101,336,426 (GRCm39)	C76S	probably benign	Het
Myh1	A	G	11: 67,106,701 (GRCm39)	D1261G	possibly damaging	Het
Myo18b	A	C	5: 112,905,319 (GRCm39)		probably null	Het
Or4c124	T	A	2: 89,155,723 (GRCm39)	D267V	probably damaging	Het
P2rx2	A	T	5: 110,489,950 (GRCm39)	C172S	probably damaging	Het
P3h3	A	G	6: 124,832,969 (GRCm39)	Y195H	probably damaging	Het
Pex11b	T	C	3: 96,544,107 (GRCm39)		probably null	Het
Ppm1j	T	A	3: 104,691,059 (GRCm39)	Y274*	probably null	Het
Scn9a	A	T	2: 66,370,893 (GRCm39)	D562E	possibly damaging	Het
Slc14a2	A	G	18: 78,203,156 (GRCm39)	V557A	probably benign	Het
Slc9b2	T	C	3: 135,042,221 (GRCm39)	I500T	probably damaging	Het
Sult2a3	C	T	7: 13,806,981 (GRCm39)	V234I	probably benign	Het
Tcp10c	T	G	17: 13,576,100 (GRCm39)	L27V	probably damaging	Het
Tktl2	A	G	8: 66,965,651 (GRCm39)	D403G	probably benign	Het
Tmprss13	G	A	9: 45,244,858 (GRCm39)	W212*	probably null	Het
Tspoap1	T	G	11: 87,654,451 (GRCm39)	S244A	probably benign	Het
Upb1	A	C	10: 75,260,368 (GRCm39)	T136P	probably benign	Het
Wdr25	G	A	12: 108,958,819 (GRCm39)	G344S	possibly damaging	Het
Wwp1	T	C	4: 19,662,188 (GRCm39)	T136A	probably benign	Het
Zfp354a	A	G	11: 50,960,751 (GRCm39)	T320A	probably benign	Het
Zfyve16	A	G	13: 92,641,070 (GRCm39)	Y1225H	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
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
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'- AGAGTAATCAGGTGGCCATCG -3'
(R):5'- TGCTCTGCAAAGGTGAACCTG -3'

Sequencing Primer
(F):5'- TGCACCAGCGTTCCATAG -3'
(R):5'- CACGTGGGGTATCTGCTCTC -3'

Posted On

2019-10-24