Mutagenetix > Incidental Mutation

Incidental Mutation 'R9412:Suox'

711866

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 #

R9412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128505756-128509787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128507758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 90 (D90V)

Ref Sequence

ENSEMBL: ENSMUSP00000056195 (fasta)

Gene Model

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

AlphaFold

Q8R086

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054764
AA Change: D90V

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056195
Gene: ENSMUSG00000049858
AA Change: D90V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217817

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	A	8: 13,604,695 (GRCm39)	T203S	possibly damaging	Het
2700049A03Rik	G	A	12: 71,235,457 (GRCm39)	E1136K	possibly damaging	Het
Abca6	C	A	11: 110,103,059 (GRCm39)	R844L	probably damaging	Het
Abcb9	C	T	5: 124,221,753 (GRCm39)	R207Q	probably benign	Het
Abcd4	T	C	12: 84,655,581 (GRCm39)	R343G	probably damaging	Het
Arhgap45	T	A	10: 79,855,564 (GRCm39)	M1K	probably null	Het
Art3	A	G	5: 92,541,013 (GRCm39)	Y252C	probably damaging	Het
Ascc3	T	C	10: 50,525,230 (GRCm39)	M475T	probably benign	Het
Atxn2	C	T	5: 121,940,201 (GRCm39)	P992L	possibly damaging	Het
Dclk3	G	A	9: 111,311,819 (GRCm39)		probably null	Het
Ddx21	T	C	10: 62,429,881 (GRCm39)	T288A	possibly damaging	Het
Fat3	T	C	9: 15,908,703 (GRCm39)	D2433G	probably damaging	Het
Flnc	G	A	6: 29,441,484 (GRCm39)	R422Q	probably benign	Het
Fmnl2	G	T	2: 53,007,016 (GRCm39)	R776L	unknown	Het
Fndc1	T	A	17: 7,991,198 (GRCm39)	T833S	unknown	Het
Igf1r	T	A	7: 67,857,001 (GRCm39)	Y988N	probably damaging	Het
Ints2	T	C	11: 86,117,589 (GRCm39)	Y711C	probably damaging	Het
Irx5	A	G	8: 93,086,351 (GRCm39)	K145E	probably damaging	Het
Kdm5a	A	G	6: 120,365,991 (GRCm39)	Y377C	probably damaging	Het
Lrp1	T	A	10: 127,409,287 (GRCm39)	T1611S	probably damaging	Het
Lrrc28	T	A	7: 67,181,512 (GRCm39)	E241V	probably damaging	Het
Med23	T	C	10: 24,778,019 (GRCm39)	F789S	probably damaging	Het
Ncapd3	C	T	9: 26,967,451 (GRCm39)	Q596*	probably null	Het
Nrde2	C	A	12: 100,096,681 (GRCm39)	E1040*	probably null	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcdh15	CAGAGA	CAGA	10: 74,481,663 (GRCm39)		probably null	Het
Pcm1	T	G	8: 41,740,788 (GRCm39)	N972K	probably damaging	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,755,772 (GRCm39)	T222A	probably damaging	Het
Ptchd3	A	T	11: 121,732,779 (GRCm39)	K556N	possibly damaging	Het
Relch	A	G	1: 105,662,288 (GRCm39)	T936A	probably benign	Het
Scap	T	C	9: 110,207,673 (GRCm39)	C461R	possibly damaging	Het
Scgb1b10	T	A	7: 31,800,627 (GRCm39)	L72*	probably null	Het
Serpinb6c	C	A	13: 34,081,371 (GRCm39)	A93S	probably benign	Het
Serpinb9c	C	A	13: 33,334,231 (GRCm39)	L298F	probably damaging	Het
Slf2	A	T	19: 44,930,460 (GRCm39)	E512D	probably benign	Het
Snapc3	C	T	4: 83,354,570 (GRCm39)	H194Y	probably benign	Het
Supt20	TCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCA	3: 54,635,069 (GRCm39)		probably benign	Het
Tert	C	T	13: 73,797,046 (GRCm39)	R1095W	probably benign	Het
Tut4	A	T	4: 108,414,561 (GRCm39)	H46L		Het
Unc13c	T	C	9: 73,839,772 (GRCm39)	I360V	probably benign	Het
Uqcc1	A	G	2: 155,693,329 (GRCm39)	C235R	probably benign	Het
Vmn2r9	T	A	5: 108,991,484 (GRCm39)	I626F	probably damaging	Het
Vmn2r90	T	G	17: 17,954,213 (GRCm39)	C792W	probably damaging	Het
Zfp57	C	T	17: 37,320,814 (GRCm39)	P223S	probably benign	Het
Zfp787	T	C	7: 6,135,946 (GRCm39)	T102A	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
R9539:Suox	UTSW	10	128,507,383 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCAGTAACTCACGTACATGG -3'
(R):5'- GAAAAGAGCTTCCATGCCGG -3'

Sequencing Primer
(F):5'- TAACTCACGTACATGGGGCTG -3'
(R):5'- CAAAGGGATCTTATAGGCTCTGTC -3'

Posted On

2022-05-16