Incidental Mutation 'R5721:Suox'
| ID |
451450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Suox
|
| Ensembl Gene |
ENSMUSG00000049858 |
| Gene Name |
sulfite oxidase |
| Synonyms |
SO |
| MMRRC Submission |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128505756-128509787 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 128507162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 289
(I289V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054764]
|
| AlphaFold |
Q8R086 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054764
AA Change: I289V
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000056195
Gene: ENSMUSG00000049858
AA Change: I289V
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
| Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
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 |
|
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'- ATTTCATAAGCCAGGAGGACCTC -3'
(R):5'- ATCTGCCTGTACCTAACCTGG -3'
Sequencing Primer
(F):5'- ACCTCGGCTTCAGGATCCATG -3'
(R):5'- ACACACCTATCGCTTACATGTAGTAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation