Incidental Mutation 'R2309:Qsox2'
ID |
244695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Qsox2
|
Ensembl Gene |
ENSMUSG00000036327 |
Gene Name |
quiescin Q6 sulfhydryl oxidase 2 |
Synonyms |
Qscn6l1, QSOX2 |
MMRRC Submission |
040308-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R2309 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26099136-26127411 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26118445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 109
(I109V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036187]
[ENSMUST00000091263]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036187
AA Change: I109V
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000037128 Gene: ENSMUSG00000036327 AA Change: I109V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
59 |
166 |
1.7e-15 |
PFAM |
low complexity region
|
295 |
310 |
N/A |
INTRINSIC |
Blast:HOX
|
355 |
398 |
6e-14 |
BLAST |
Pfam:Evr1_Alr
|
424 |
525 |
3.4e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091263
|
SMART Domains |
Protein: ENSMUSP00000088807 Gene: ENSMUSG00000036327
Domain | Start | End | E-Value | Type |
low complexity region
|
130 |
145 |
N/A |
INTRINSIC |
Blast:HOX
|
190 |
233 |
1e-13 |
BLAST |
Pfam:Evr1_Alr
|
259 |
361 |
2.4e-30 |
PFAM |
transmembrane domain
|
490 |
512 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the sulfhydryl oxidase protein family. Members of this family catalyze formation of disulfide bonds. A similar protein in humans may sensitize neuroblastoma cells to interferon gamma-induced cell death. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
G |
T |
6: 86,073,783 (GRCm39) |
C224F |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,757,818 (GRCm39) |
I837M |
probably damaging |
Het |
Baat |
T |
C |
4: 49,499,718 (GRCm39) |
Y196C |
probably damaging |
Het |
Cd19 |
T |
C |
7: 126,013,447 (GRCm39) |
N114S |
probably benign |
Het |
Cldn24 |
T |
G |
8: 48,275,774 (GRCm39) |
Y199* |
probably null |
Het |
Il1rl1 |
A |
G |
1: 40,481,817 (GRCm39) |
D175G |
possibly damaging |
Het |
Kcnh8 |
T |
A |
17: 53,285,067 (GRCm39) |
D1012E |
probably damaging |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Med23 |
T |
G |
10: 24,746,586 (GRCm39) |
D35E |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,455,638 (GRCm39) |
D2512G |
probably damaging |
Het |
Nfatc4 |
A |
T |
14: 56,064,461 (GRCm39) |
D246V |
probably damaging |
Het |
Nlrp9c |
C |
A |
7: 26,077,512 (GRCm39) |
V757F |
probably damaging |
Het |
Or12e8 |
T |
C |
2: 87,188,298 (GRCm39) |
F170S |
probably damaging |
Het |
Pcnt |
T |
A |
10: 76,278,460 (GRCm39) |
|
probably benign |
Het |
Rnf17 |
A |
G |
14: 56,743,439 (GRCm39) |
K1335R |
possibly damaging |
Het |
Serpina6 |
A |
G |
12: 103,620,438 (GRCm39) |
Y104H |
probably benign |
Het |
Serpini2 |
A |
G |
3: 75,166,997 (GRCm39) |
S87P |
probably damaging |
Het |
Setx |
G |
A |
2: 29,048,916 (GRCm39) |
V1981M |
probably damaging |
Het |
Sgpp2 |
T |
C |
1: 78,393,986 (GRCm39) |
F330L |
probably damaging |
Het |
Slc6a6 |
G |
C |
6: 91,703,177 (GRCm39) |
W183C |
possibly damaging |
Het |
Ttll9 |
A |
G |
2: 152,826,065 (GRCm39) |
K81E |
probably damaging |
Het |
Ulbp1 |
G |
A |
10: 7,397,388 (GRCm39) |
T239I |
probably benign |
Het |
Vmn1r230 |
A |
G |
17: 21,067,492 (GRCm39) |
H227R |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,096,283 (GRCm39) |
F1029I |
probably benign |
Het |
|
Other mutations in Qsox2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00517:Qsox2
|
APN |
2 |
26,112,267 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01067:Qsox2
|
APN |
2 |
26,118,408 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01105:Qsox2
|
APN |
2 |
26,099,697 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02420:Qsox2
|
APN |
2 |
26,110,731 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03323:Qsox2
|
APN |
2 |
26,110,991 (GRCm39) |
missense |
probably benign |
|
PIT4377001:Qsox2
|
UTSW |
2 |
26,110,924 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4677001:Qsox2
|
UTSW |
2 |
26,112,320 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4687001:Qsox2
|
UTSW |
2 |
26,112,300 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0559:Qsox2
|
UTSW |
2 |
26,104,169 (GRCm39) |
missense |
probably benign |
0.05 |
R0594:Qsox2
|
UTSW |
2 |
26,104,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R1055:Qsox2
|
UTSW |
2 |
26,104,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R1657:Qsox2
|
UTSW |
2 |
26,110,759 (GRCm39) |
nonsense |
probably null |
|
R1727:Qsox2
|
UTSW |
2 |
26,110,970 (GRCm39) |
missense |
probably benign |
0.00 |
R1746:Qsox2
|
UTSW |
2 |
26,110,650 (GRCm39) |
missense |
probably benign |
|
R1858:Qsox2
|
UTSW |
2 |
26,104,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R5291:Qsox2
|
UTSW |
2 |
26,107,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R5298:Qsox2
|
UTSW |
2 |
26,104,074 (GRCm39) |
missense |
probably damaging |
0.96 |
R5524:Qsox2
|
UTSW |
2 |
26,107,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R5567:Qsox2
|
UTSW |
2 |
26,115,230 (GRCm39) |
start codon destroyed |
probably null |
|
R5570:Qsox2
|
UTSW |
2 |
26,115,230 (GRCm39) |
start codon destroyed |
probably null |
|
R5965:Qsox2
|
UTSW |
2 |
26,112,233 (GRCm39) |
missense |
probably benign |
0.06 |
R6529:Qsox2
|
UTSW |
2 |
26,107,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R6957:Qsox2
|
UTSW |
2 |
26,107,654 (GRCm39) |
missense |
probably benign |
0.40 |
R7185:Qsox2
|
UTSW |
2 |
26,110,718 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7250:Qsox2
|
UTSW |
2 |
26,118,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R7637:Qsox2
|
UTSW |
2 |
26,111,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R8076:Qsox2
|
UTSW |
2 |
26,114,897 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9038:Qsox2
|
UTSW |
2 |
26,115,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R9316:Qsox2
|
UTSW |
2 |
26,101,085 (GRCm39) |
nonsense |
probably null |
|
R9316:Qsox2
|
UTSW |
2 |
26,101,084 (GRCm39) |
missense |
probably benign |
0.41 |
Z1176:Qsox2
|
UTSW |
2 |
26,107,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTACTGGTACATGGATTCTGC -3'
(R):5'- GGCAAACTGCTGGGTGATTG -3'
Sequencing Primer
(F):5'- GGATTCTGCCTAATAAGACCCTTGTG -3'
(R):5'- TGGTAGAAGACACCTAGCTTTG -3'
|
Posted On |
2014-10-30 |