Mutagenetix > Incidental Mutation

Incidental Mutation 'R6357:Oxct2b'

512368

Institutional Source

Beutler Lab

Gene Symbol

Oxct2b

Ensembl Gene

ENSMUSG00000076438

Gene Name

3-oxoacid CoA transferase 2B

Synonyms

Scot-t2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R6357 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123010059-123011793 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123010709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 210 (I210V)

Ref Sequence

ENSEMBL: ENSMUSP00000099708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002457] [ENSMUST00000102648]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002457

SMART Domains

Protein: ENSMUSP00000002457
Gene: ENSMUSG00000002384

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:TGFb_propeptide	26	248	2.7e-62	PFAM
TGFB	298	399	2.83e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102648
AA Change: I210V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099708
Gene: ENSMUSG00000076438
AA Change: I210V

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
CoA_trans	43	272	2.02e-79	SMART
CoA_trans	301	499	5.07e-71	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194481

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 97.8%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	C	17: 57,184,591 (GRCm39)		probably null	Het
Aoc1l2	A	G	6: 48,907,908 (GRCm39)	M303V	probably benign	Het
Armh4	A	T	14: 50,010,769 (GRCm39)	S313T	probably benign	Het
Calcr	T	C	6: 3,714,710 (GRCm39)	D140G	probably benign	Het
Card10	T	C	15: 78,683,579 (GRCm39)	E188G	probably damaging	Het
Cenpq	T	C	17: 41,235,418 (GRCm39)	E193G	probably damaging	Het
Cep164	G	A	9: 45,682,182 (GRCm39)	L1874F	probably damaging	Het
Dennd3	T	C	15: 73,428,321 (GRCm39)	M889T	possibly damaging	Het
Dnah9	T	C	11: 65,765,022 (GRCm39)	K3841E	probably damaging	Het
Dynlt2b	T	G	16: 32,247,873 (GRCm39)		probably null	Het
Eci2	A	G	13: 35,177,082 (GRCm39)	V26A	possibly damaging	Het
Eftud2	A	T	11: 102,755,606 (GRCm39)	N200K	probably damaging	Het
Eml5	T	A	12: 98,837,143 (GRCm39)	H357L	probably damaging	Het
Esam	T	C	9: 37,449,076 (GRCm39)	*395R	probably null	Het
Galt	C	T	4: 41,757,565 (GRCm39)	P246S	probably benign	Het
Gjb3	A	T	4: 127,220,423 (GRCm39)	Y36*	probably null	Het
Gli2	T	C	1: 118,769,689 (GRCm39)	E621G	probably damaging	Het
Gls	T	C	1: 52,258,665 (GRCm39)	D201G	probably damaging	Het
Gm10801	C	CGTCA	2: 98,494,152 (GRCm39)		probably null	Het
Gm1110	T	C	9: 26,825,424 (GRCm39)		probably null	Het
Gm5565	T	A	5: 146,097,283 (GRCm39)	H13L	possibly damaging	Het
Hydin	A	C	8: 111,268,289 (GRCm39)	T2923P	possibly damaging	Het
Kank1	A	T	19: 25,388,717 (GRCm39)	I797L	probably benign	Het
Klhdc8a	A	T	1: 132,230,891 (GRCm39)	Q252L	probably damaging	Het
Kmt5c	T	C	7: 4,745,204 (GRCm39)	F65S	possibly damaging	Het
Lix1	C	T	17: 17,666,255 (GRCm39)	P138L	probably benign	Het
Lnpep	T	C	17: 17,773,176 (GRCm39)	N664S	probably benign	Het
Msh6	T	A	17: 88,291,888 (GRCm39)	Y214*	probably null	Het
Nefl	A	G	14: 68,321,767 (GRCm39)	E119G	probably damaging	Het
Nptxr	C	A	15: 79,678,516 (GRCm39)	R257L	possibly damaging	Het
Or4k15c	C	A	14: 50,321,446 (GRCm39)	A231S	probably damaging	Het
Or7e173	T	A	9: 19,938,925 (GRCm39)	Q103L	probably damaging	Het
Plppr3	T	A	10: 79,701,240 (GRCm39)	Q534L	probably benign	Het
Psma1	T	C	7: 113,873,602 (GRCm39)		probably null	Het
Rbp3	G	A	14: 33,678,991 (GRCm39)	A980T	probably damaging	Het
Ripply2	T	A	9: 86,898,331 (GRCm39)	S58R	possibly damaging	Het
Robo1	T	C	16: 72,767,190 (GRCm39)	V454A	probably benign	Het
Sacs	A	G	14: 61,446,273 (GRCm39)	D2773G	possibly damaging	Het
Sirpb1b	A	T	3: 15,568,243 (GRCm39)	V366E	possibly damaging	Het
Slc5a7	T	C	17: 54,594,389 (GRCm39)	I197M	probably benign	Het
Spata31f1a	T	A	4: 42,850,393 (GRCm39)	I588F	probably damaging	Het
Spmap2	T	C	10: 79,422,789 (GRCm39)	S38G	probably benign	Het
Srgap2	T	C	1: 131,283,280 (GRCm39)	Y267C	probably damaging	Het
Ssc4d	T	C	5: 135,994,950 (GRCm39)	T189A	probably benign	Het
Tas2r106	A	G	6: 131,654,925 (GRCm39)	*309Q	probably null	Het
Vmn2r44	T	C	7: 8,373,657 (GRCm39)	M511V	probably benign	Het
Wdfy4	G	T	14: 32,823,006 (GRCm39)	Y1364*	probably null	Het
Zbtb8a	T	C	4: 129,248,092 (GRCm39)	H393R	probably benign	Het

Other mutations in Oxct2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Oxct2b	APN	4	123,011,301 (GRCm39)	missense	probably damaging	1.00
R0504:Oxct2b	UTSW	4	123,010,705 (GRCm39)	small deletion	probably benign
R0504:Oxct2b	UTSW	4	123,010,633 (GRCm39)	missense	possibly damaging	0.92
R0543:Oxct2b	UTSW	4	123,010,782 (GRCm39)	missense	possibly damaging	0.93
R1167:Oxct2b	UTSW	4	123,011,378 (GRCm39)	missense	probably damaging	0.99
R1365:Oxct2b	UTSW	4	123,011,162 (GRCm39)	missense	probably benign
R1891:Oxct2b	UTSW	4	123,010,938 (GRCm39)	missense	probably benign	0.01
R2311:Oxct2b	UTSW	4	123,011,211 (GRCm39)	missense	probably damaging	1.00
R2906:Oxct2b	UTSW	4	123,010,823 (GRCm39)	missense	probably benign	0.12
R4168:Oxct2b	UTSW	4	123,011,478 (GRCm39)	missense	probably damaging	0.96
R4657:Oxct2b	UTSW	4	123,010,926 (GRCm39)	missense	probably damaging	1.00
R6159:Oxct2b	UTSW	4	123,011,244 (GRCm39)	missense	probably damaging	1.00
R6221:Oxct2b	UTSW	4	123,010,601 (GRCm39)	missense	probably damaging	1.00
R6271:Oxct2b	UTSW	4	123,011,508 (GRCm39)	missense	probably damaging	1.00
R6389:Oxct2b	UTSW	4	123,010,367 (GRCm39)	missense	probably benign	0.21
R6996:Oxct2b	UTSW	4	123,011,480 (GRCm39)	missense	probably benign	0.05
R7210:Oxct2b	UTSW	4	123,010,069 (GRCm39)	start gained	probably benign
R7655:Oxct2b	UTSW	4	123,011,550 (GRCm39)	missense	probably benign	0.16
R7656:Oxct2b	UTSW	4	123,011,550 (GRCm39)	missense	probably benign	0.16
R7849:Oxct2b	UTSW	4	123,010,680 (GRCm39)	missense	probably damaging	1.00
R7934:Oxct2b	UTSW	4	123,010,447 (GRCm39)	nonsense	probably null
R8094:Oxct2b	UTSW	4	123,010,301 (GRCm39)	missense	possibly damaging	0.66
R8936:Oxct2b	UTSW	4	123,010,838 (GRCm39)	missense	probably benign	0.00
R8979:Oxct2b	UTSW	4	123,011,169 (GRCm39)	missense	probably benign	0.23
R9365:Oxct2b	UTSW	4	123,010,589 (GRCm39)	missense	probably benign	0.03
R9523:Oxct2b	UTSW	4	123,011,483 (GRCm39)	missense	probably damaging	1.00
R9598:Oxct2b	UTSW	4	123,010,413 (GRCm39)	missense	possibly damaging	0.88
R9612:Oxct2b	UTSW	4	123,011,019 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGAAGATCGTCAGCAGC -3'
(R):5'- CCACATAGATGTTGGGGATGTG -3'

Sequencing Primer
(F):5'- ATCGTCAGCAGCAACGTG -3'
(R):5'- GGATGTCTTCCGGGGCG -3'

Posted On

2018-04-27