Mutagenetix > Incidental Mutation

Incidental Mutation 'R9539:Suox'

719816

Institutional Source

Beutler Lab

Gene Symbol

Suox

Ensembl Gene

ENSMUSG00000049858

Gene Name

sulfite oxidase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R9539 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128505756-128509787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128507383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 215 (F215S)

Ref Sequence

ENSEMBL: ENSMUSP00000056195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054764]

AlphaFold

Q8R086

Predicted Effect

probably damaging
Transcript: ENSMUST00000054764
AA Change: F215S

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

SMART Domains

Protein: ENSMUSP00000056195
Gene: ENSMUSG00000049858
AA Change: F215S

Domain	Start	End	E-Value	Type
low complexity region	58	70	N/A	INTRINSIC
Cyt-b5	86	162	3.41e-13	SMART
Pfam:Oxidored_molyb	220	396	1.2e-62	PFAM
Pfam:Mo-co_dimer	418	545	1.7e-45	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah1	G	A	8: 41,827,584 (GRCm39)	A13V	probably benign	Het
Bdh1	A	G	16: 31,273,914 (GRCm39)	T160A	probably benign	Het
Ccdc115	C	T	1: 34,477,930 (GRCm39)		probably null	Het
Ccdc162	T	A	10: 41,463,407 (GRCm39)	E1445V	possibly damaging	Het
Ccdc88c	T	C	12: 100,901,993 (GRCm39)	E1215G	possibly damaging	Het
Cep290	A	T	10: 100,404,713 (GRCm39)	E2358D	probably damaging	Het
Cog6	A	G	3: 52,914,722 (GRCm39)	S245P	probably benign	Het
Copb2	A	T	9: 98,467,983 (GRCm39)		probably null	Het
Crtc1	T	A	8: 70,892,115 (GRCm39)	M32L	probably benign	Het
Dagla	A	C	19: 10,228,429 (GRCm39)		probably null	Het
Dph5	C	A	3: 115,722,305 (GRCm39)	P261Q	probably damaging	Het
Gpr137c	T	C	14: 45,516,187 (GRCm39)	V307A	probably damaging	Het
Herpud2	A	G	9: 25,041,936 (GRCm39)	Y79H	probably damaging	Het
Ighg2b	C	T	12: 113,270,498 (GRCm39)	V211I		Het
Meioc	C	T	11: 102,565,506 (GRCm39)	T318M	probably damaging	Het
Mterf4	T	C	1: 93,229,188 (GRCm39)	Y275C	unknown	Het
Mtfr1	T	C	3: 19,271,422 (GRCm39)	V198A	probably benign	Het
Ogfrl1	T	A	1: 23,415,322 (GRCm39)	I138F	probably damaging	Het
Pacc1	C	T	1: 191,077,174 (GRCm39)	Q166*	probably null	Het
Pf4	T	A	5: 90,920,891 (GRCm39)	V73D	possibly damaging	Het
Phldb1	T	C	9: 44,627,482 (GRCm39)	E321G	probably damaging	Het
Plch1	T	C	3: 63,691,427 (GRCm39)	S59G	probably null	Het
Pmfbp1	A	G	8: 110,240,537 (GRCm39)	I206M	probably damaging	Het
Ppp1r15a	A	G	7: 45,174,658 (GRCm39)	V50A	probably damaging	Het
Ptprs	T	C	17: 56,725,715 (GRCm39)	H1496R	probably benign	Het
Sardh	T	A	2: 27,134,298 (GRCm39)	I73F	probably damaging	Het
Serpind1	G	A	16: 17,157,638 (GRCm39)	W278*	probably null	Het
Slit3	C	T	11: 35,589,155 (GRCm39)	Q1237*	probably null	Het
Smg1	T	C	7: 117,744,976 (GRCm39)	I3059V	probably benign	Het
Spart	T	A	3: 55,034,924 (GRCm39)	W437R	probably damaging	Het
Spata6	C	G	4: 111,685,526 (GRCm39)	A477G	possibly damaging	Het
Tcaf1	T	C	6: 42,655,683 (GRCm39)	N431S	probably benign	Het
Tgfbr3l	G	A	8: 4,299,679 (GRCm39)	R154H	probably damaging	Het
Tll1	T	C	8: 64,494,457 (GRCm39)	K766R	probably damaging	Het
Tmem63b	T	A	17: 45,984,105 (GRCm39)	K255*	probably null	Het
Tmem67	A	T	4: 12,045,814 (GRCm39)	L881H	probably damaging	Het
Tmem67	G	T	4: 12,045,815 (GRCm39)	L881I	probably damaging	Het
Tnrc6b	A	G	15: 80,760,544 (GRCm39)	S84G	probably damaging	Het
Traf7	C	T	17: 24,729,333 (GRCm39)	V465M	probably damaging	Het
Ttn	C	T	2: 76,618,568 (GRCm39)	V16239I	probably damaging	Het
Unc80	T	C	1: 66,609,163 (GRCm39)		probably null	Het
Zc3h11a	T	C	1: 133,554,927 (GRCm39)	E351G	probably benign	Het
Zfp942	T	A	17: 22,148,014 (GRCm39)	H205L	probably damaging	Het

Other mutations in Suox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Suox	APN	10	128,507,967 (GRCm39)	splice site	probably benign
IGL02744:Suox	APN	10	128,507,086 (GRCm39)	missense	probably benign	0.00
PIT4402001:Suox	UTSW	10	128,507,164 (GRCm39)	missense	probably damaging	1.00
R0414:Suox	UTSW	10	128,507,326 (GRCm39)	missense	probably benign	0.01
R0418:Suox	UTSW	10	128,506,754 (GRCm39)	missense	probably damaging	1.00
R0612:Suox	UTSW	10	128,506,525 (GRCm39)	missense	probably benign
R1845:Suox	UTSW	10	128,506,408 (GRCm39)	missense	possibly damaging	0.56
R3976:Suox	UTSW	10	128,506,906 (GRCm39)	missense	probably damaging	0.96
R4808:Suox	UTSW	10	128,507,758 (GRCm39)	missense	possibly damaging	0.81
R5098:Suox	UTSW	10	128,507,027 (GRCm39)	missense	probably damaging	1.00
R5587:Suox	UTSW	10	128,507,694 (GRCm39)	missense	probably damaging	1.00
R5721:Suox	UTSW	10	128,507,162 (GRCm39)	missense	possibly damaging	0.55
R6968:Suox	UTSW	10	128,507,702 (GRCm39)	missense	possibly damaging	0.92
R7378:Suox	UTSW	10	128,506,910 (GRCm39)	missense	probably benign	0.05
R7669:Suox	UTSW	10	128,506,780 (GRCm39)	missense	probably benign	0.01
R8345:Suox	UTSW	10	128,507,200 (GRCm39)	missense	probably benign	0.01
R8478:Suox	UTSW	10	128,506,921 (GRCm39)	missense	probably damaging	1.00
R8559:Suox	UTSW	10	128,506,600 (GRCm39)	missense	probably damaging	1.00
R8969:Suox	UTSW	10	128,507,542 (GRCm39)	missense	probably benign
R8979:Suox	UTSW	10	128,507,367 (GRCm39)	missense	probably damaging	1.00
R9412:Suox	UTSW	10	128,507,758 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CCTTACTCATTTCGGAGCGC -3'
(R):5'- TATGCTGTGCACAACCAGC -3'

Sequencing Primer
(F):5'- CCGGTTACCAGCACACTG -3'
(R):5'- AGCCCCATGTACGTGAGTTACTG -3'

Posted On

2022-07-18