Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4402001:Suox'

555534

Institutional Source

Beutler Lab

Gene Symbol

Suox

Ensembl Gene

ENSMUSG00000049858

Gene Name

sulfite oxidase

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

PIT4402001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128505756-128509787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128507164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 288 (A288V)

Ref Sequence

ENSEMBL: ENSMUSP00000056195 (fasta)

Gene Model

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

AlphaFold

Q8R086

Predicted Effect

probably damaging
Transcript: ENSMUST00000054764
AA Change: A288V

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

SMART Domains

Protein: ENSMUSP00000056195
Gene: ENSMUSG00000049858
AA Change: A288V

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: 92.8%
3x: 90.3%
10x: 83.2%
20x: 68.1%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	G	14: 59,380,084 (GRCm39)	L71F	probably damaging	Het
Adamts9	C	T	6: 92,849,328 (GRCm39)	V1044I	probably benign	Het
Alcam	T	C	16: 52,115,497 (GRCm39)	Y207C	probably damaging	Het
Aldh4a1	C	A	4: 139,369,502 (GRCm39)	S351*	probably null	Het
Aoah	C	A	13: 20,978,680 (GRCm39)	S39R	probably benign	Het
Arcn1	A	T	9: 44,656,899 (GRCm39)	V421E	possibly damaging	Het
Ccdc18	A	G	5: 108,306,485 (GRCm39)	E300G	possibly damaging	Het
Cdk2ap2	C	A	19: 4,148,557 (GRCm39)	R126S	probably damaging	Het
Dcun1d4	A	G	5: 73,668,276 (GRCm39)	I39V	probably benign	Het
Fam53b	A	T	7: 132,361,746 (GRCm39)	I94N	probably damaging	Het
Fam83g	A	G	11: 61,594,422 (GRCm39)	H652R	probably damaging	Het
Fanca	A	T	8: 124,039,803 (GRCm39)	M157K	possibly damaging	Het
Flt1	A	T	5: 147,615,049 (GRCm39)	I299N	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gns	A	G	10: 121,212,611 (GRCm39)	Y191C	probably damaging	Het
Grin2a	T	C	16: 9,462,063 (GRCm39)	T690A	possibly damaging	Het
Gsk3b	C	T	16: 37,909,763 (GRCm39)		probably benign	Het
Igsf10	A	G	3: 59,233,000 (GRCm39)	V1911A	probably benign	Het
Igsf3	A	G	3: 101,334,393 (GRCm39)	K157E	probably benign	Het
Inpp5a	T	C	7: 139,091,369 (GRCm39)	Y118H	probably benign	Het
Kmt2a	A	G	9: 44,752,359 (GRCm39)	V1413A	unknown	Het
Mettl9	T	A	7: 120,656,440 (GRCm39)	V190E	probably damaging	Het
Mrps9	T	C	1: 42,935,258 (GRCm39)	L188P	probably benign	Het
Myo9a	A	T	9: 59,777,719 (GRCm39)	R1158S	possibly damaging	Het
Nacad	T	G	11: 6,548,621 (GRCm39)	Q1371P	probably benign	Het
Ncoa1	T	C	12: 4,344,987 (GRCm39)	M787V	probably benign	Het
Noxred1	A	T	12: 87,273,855 (GRCm39)	I62K	probably benign	Het
Or1j4	A	T	2: 36,740,316 (GRCm39)	H86L	probably benign	Het
Or2d3b	T	A	7: 106,514,294 (GRCm39)	D296E	possibly damaging	Het
Or2y17	A	G	11: 49,232,226 (GRCm39)	Y289C	probably damaging	Het
Or52d1	A	G	7: 103,755,657 (GRCm39)	Y57C	probably damaging	Het
Otud6b	A	G	4: 14,818,185 (GRCm39)	Y239H	probably damaging	Het
Pank1	A	G	19: 34,818,366 (GRCm39)	Y233H	probably damaging	Het
Pccb	G	T	9: 100,877,645 (GRCm39)	D286E	probably benign	Het
Plek	A	C	11: 16,940,121 (GRCm39)	L196R	probably benign	Het
Pou6f2	T	C	13: 18,299,931 (GRCm39)	H576R		Het
Rbm47	T	A	5: 66,184,354 (GRCm39)	Y83F	probably damaging	Het
Rbm6	A	T	9: 107,665,049 (GRCm39)	Y787N	probably damaging	Het
Slc8a2	C	A	7: 15,868,419 (GRCm39)	A217E	probably damaging	Het
Tbccd1	T	C	16: 22,640,873 (GRCm39)	I501M	probably damaging	Het
Tjp2	C	A	19: 24,075,493 (GRCm39)	G1042*	probably null	Het
Tmtc2	T	C	10: 105,249,268 (GRCm39)	Y155C	probably damaging	Het
Usp7	T	C	16: 8,516,359 (GRCm39)	N600S	probably benign	Het
Zer1	T	C	2: 29,991,132 (GRCm39)	I699V	probably damaging	Het
Zfp142	A	G	1: 74,618,687 (GRCm39)	F227S	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
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
R9539:Suox	UTSW	10	128,507,383 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTTCATAAGCCAGGAGGACCTC -3'
(R):5'- TCTGCCTGTACCTAACCTGG -3'

Sequencing Primer
(F):5'- ACCTCGGCTTCAGGATCCATG -3'
(R):5'- CCACACACCTATCGCTTACATGTAG -3'

Posted On

2019-06-07