Mutagenetix > Incidental Mutation

Incidental Mutation 'R6662:Oxsm'

528034

Institutional Source

Beutler Lab

Gene Symbol

Oxsm

Ensembl Gene

ENSMUSG00000021786

Gene Name

3-oxoacyl-ACP synthase, mitochondrial

Synonyms

4933425A18Rik

MMRRC Submission

044782-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6219955-6231111 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16242287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 161 (S161P)

Ref Sequence

ENSEMBL: ENSMUSP00000108244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022311] [ENSMUST00000112624] [ENSMUST00000112625]

AlphaFold

Q9D404

Predicted Effect

probably benign
Transcript: ENSMUST00000022311
AA Change: S161P

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000022311
Gene: ENSMUSG00000021786
AA Change: S161P

Domain	Start	End	E-Value	Type
Pfam:ketoacyl-synt	41	291	6.7e-61	PFAM
Pfam:Ketoacyl-synt_C	299	414	3.6e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112624
AA Change: S161P

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000108243
Gene: ENSMUSG00000021786
AA Change: S161P

Domain	Start	End	E-Value	Type
Pfam:ketoacyl-synt	41	291	2.8e-60	PFAM
Pfam:Ketoacyl-synt_C	299	414	1.7e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112625
AA Change: S161P

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000108244
Gene: ENSMUSG00000021786
AA Change: S161P

Domain	Start	End	E-Value	Type
Pfam:ketoacyl-synt	41	291	2.8e-60	PFAM
Pfam:Ketoacyl-synt_C	299	414	1.7e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148121

SMART Domains

Protein: ENSMUSP00000122364
Gene: ENSMUSG00000021786

Domain	Start	End	E-Value	Type
Pfam:ketoacyl-synt	41	198	9.2e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225889

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,062,285 (GRCm39)		probably null	Het
Acox1	A	G	11: 116,066,149 (GRCm39)	Y418H	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Aldh3a1	G	A	11: 61,105,481 (GRCm39)	V196I	probably benign	Het
Aox3	A	G	1: 58,157,774 (GRCm39)	K44E	probably damaging	Het
Bad	T	A	19: 6,928,438 (GRCm39)		probably benign	Het
BC034090	G	T	1: 155,102,085 (GRCm39)	Q60K	possibly damaging	Het
Casp6	A	G	3: 129,705,875 (GRCm39)	T181A	probably benign	Het
Catsperg2	G	A	7: 29,418,938 (GRCm39)		probably benign	Het
Ccdc14	T	C	16: 34,511,164 (GRCm39)	L46P	probably damaging	Het
Ces1b	A	G	8: 93,790,697 (GRCm39)	L364S	probably benign	Het
Cfap45	T	C	1: 172,357,417 (GRCm39)	I15T	probably benign	Het
Dph5	G	A	3: 115,722,205 (GRCm39)	E228K	probably benign	Het
Fat4	G	T	3: 39,010,970 (GRCm39)	L2023F	possibly damaging	Het
Garem1	T	C	18: 21,281,304 (GRCm39)	N351D	probably benign	Het
Grm2	C	T	9: 106,525,252 (GRCm39)	A488T	probably benign	Het
Ifit3b	A	G	19: 34,589,337 (GRCm39)	E171G	probably damaging	Het
Il1rn	A	T	2: 24,226,887 (GRCm39)		probably null	Het
Itih5	A	T	2: 10,253,992 (GRCm39)	I748F	probably benign	Het
Kcnh5	C	A	12: 75,054,385 (GRCm39)	D520Y	probably damaging	Het
Mgat5	C	A	1: 127,396,974 (GRCm39)	H574N	probably damaging	Het
Moxd1	A	C	10: 24,160,658 (GRCm39)	D437A	probably damaging	Het
Mybpc2	A	G	7: 44,155,590 (GRCm39)	F888L	probably benign	Het
Ncs1	T	A	2: 31,177,372 (GRCm39)	L183Q	probably damaging	Het
Neto2	A	T	8: 86,389,844 (GRCm39)	D206E	probably damaging	Het
Omp	A	G	7: 97,794,546 (GRCm39)	L27P	probably damaging	Het
Pate6	C	A	9: 35,701,296 (GRCm39)	R6M	possibly damaging	Het
Pde4b	A	G	4: 102,459,095 (GRCm39)	I381M	possibly damaging	Het
Pramel5	A	T	4: 143,999,675 (GRCm39)	N137K	probably benign	Het
Prss33	T	C	17: 24,052,934 (GRCm39)	S247G	probably damaging	Het
Rassf9	T	A	10: 102,381,899 (GRCm39)	L425Q	possibly damaging	Het
Setx	A	T	2: 29,048,126 (GRCm39)	D1909V	probably damaging	Het
Slc26a3	A	T	12: 31,507,345 (GRCm39)	K402*	probably null	Het
Slco1a6	G	A	6: 142,078,941 (GRCm39)	T118I	probably damaging	Het
Syne1	A	G	10: 5,078,416 (GRCm39)	L6769P	probably damaging	Het
Tas2r107	A	T	6: 131,636,452 (GRCm39)	V199D	possibly damaging	Het
Tchp	A	G	5: 114,858,076 (GRCm39)		probably null	Het
Trdn	A	T	10: 33,350,483 (GRCm39)	N684I	probably damaging	Het
Trio	G	T	15: 27,855,082 (GRCm39)	T700K	probably benign	Het
Ttn	C	T	2: 76,586,242 (GRCm39)	V20084I	probably benign	Het
Ubl3	A	T	5: 148,446,116 (GRCm39)	Y62*	probably null	Het
Uckl1	A	G	2: 181,215,053 (GRCm39)	Y267H	possibly damaging	Het
Zfp1005	G	A	2: 150,108,172 (GRCm39)		probably null	Het
Zfp786	T	C	6: 47,803,920 (GRCm39)	N41D	probably damaging	Het
Zfp983	T	C	17: 21,881,001 (GRCm39)	S310P	probably damaging	Het

Other mutations in Oxsm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Oxsm	APN	14	16,242,076 (GRCm38)	missense	probably damaging	1.00
IGL00900:Oxsm	APN	14	16,242,023 (GRCm38)	missense	probably damaging	0.96
IGL01966:Oxsm	APN	14	16,242,520 (GRCm38)	missense	probably benign
R0731:Oxsm	UTSW	14	16,240,893 (GRCm38)	missense	probably damaging	1.00
R2070:Oxsm	UTSW	14	16,241,983 (GRCm38)	missense	probably benign	0.03
R2071:Oxsm	UTSW	14	16,241,983 (GRCm38)	missense	probably benign	0.03
R4172:Oxsm	UTSW	14	16,242,079 (GRCm38)	missense	probably damaging	1.00
R5473:Oxsm	UTSW	14	16,242,045 (GRCm38)	missense	probably damaging	1.00
R6048:Oxsm	UTSW	14	16,242,308 (GRCm38)	missense	possibly damaging	0.63
R6301:Oxsm	UTSW	14	16,242,220 (GRCm38)	missense	probably damaging	1.00
R6415:Oxsm	UTSW	14	16,241,904 (GRCm38)	missense	probably benign	0.12
R7490:Oxsm	UTSW	14	16,241,066 (GRCm38)	missense	probably benign	0.34
R7782:Oxsm	UTSW	14	16,240,925 (GRCm38)	missense	possibly damaging	0.51
R8085:Oxsm	UTSW	14	16,242,439 (GRCm38)	nonsense	probably null
R8699:Oxsm	UTSW	14	16,242,631 (GRCm38)	missense	possibly damaging	0.86
R8896:Oxsm	UTSW	14	16,242,677 (GRCm38)	missense	probably benign	0.01
R9406:Oxsm	UTSW	14	16,242,531 (GRCm38)	missense	probably benign	0.00
R9643:Oxsm	UTSW	14	16,241,000 (GRCm38)	missense	probably damaging	0.99
R9778:Oxsm	UTSW	14	16,242,629 (GRCm38)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TCACCATGGGCTATGAATCTAAAG -3'
(R):5'- GAGGTCCACATGAAGGTCAG -3'

Sequencing Primer
(F):5'- GGCTATGAATCTAAAGGAGTCTCCC -3'
(R):5'- GGTCCACATGAAGGTCAGTTTAATG -3'

Posted On

2018-07-24