Incidental Mutation 'IGL03323:Qsox2'
| ID |
416552 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Qsox2
|
| Ensembl Gene |
ENSMUSG00000036327 |
| Gene Name |
quiescin Q6 sulfhydryl oxidase 2 |
| Synonyms |
Qscn6l1, QSOX2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL03323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26099136-26127411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26110991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 125
(S125P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036187]
[ENSMUST00000091263]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036187
AA Change: S290P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037128
Gene: ENSMUSG00000036327
AA Change: S290P
| 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
AA Change: S125P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088807
Gene: ENSMUSG00000036327
AA Change: S125P
| 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 |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
A |
T |
14: 103,292,730 (GRCm39) |
D418V |
probably damaging |
Het |
| Ahdc1 |
G |
A |
4: 132,792,739 (GRCm39) |
G1327S |
probably benign |
Het |
| Bcl2l15 |
A |
T |
3: 103,740,719 (GRCm39) |
I62L |
probably benign |
Het |
| Ccdc7a |
A |
T |
8: 129,785,244 (GRCm39) |
D105E |
probably benign |
Het |
| Cldn12 |
C |
A |
5: 5,558,421 (GRCm39) |
G2V |
probably damaging |
Het |
| Eapp |
G |
T |
12: 54,720,400 (GRCm39) |
H272N |
probably damaging |
Het |
| Fcrla |
A |
G |
1: 170,755,114 (GRCm39) |
|
probably benign |
Het |
| Fmnl3 |
C |
T |
15: 99,219,162 (GRCm39) |
G787S |
probably damaging |
Het |
| Fmo5 |
G |
T |
3: 97,546,323 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
G |
T |
16: 36,733,815 (GRCm39) |
E1021* |
probably null |
Het |
| Hspa4 |
A |
T |
11: 53,155,960 (GRCm39) |
N648K |
probably benign |
Het |
| Iigp1 |
T |
C |
18: 60,522,896 (GRCm39) |
F5L |
probably benign |
Het |
| Lad1 |
T |
A |
1: 135,758,712 (GRCm39) |
|
probably null |
Het |
| Man2b2 |
T |
C |
5: 36,975,858 (GRCm39) |
D399G |
probably benign |
Het |
| Mc5r |
C |
T |
18: 68,472,286 (GRCm39) |
T215I |
probably benign |
Het |
| Mx2 |
A |
G |
16: 97,347,575 (GRCm39) |
S156G |
probably damaging |
Het |
| Necap2 |
A |
T |
4: 140,795,533 (GRCm39) |
I242N |
possibly damaging |
Het |
| Nme8 |
C |
T |
13: 19,873,120 (GRCm39) |
E175K |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,801,445 (GRCm39) |
C1098S |
probably damaging |
Het |
| Or1j16 |
T |
A |
2: 36,530,153 (GRCm39) |
M34K |
possibly damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,434 (GRCm39) |
Y132H |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,919,656 (GRCm39) |
|
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,607,162 (GRCm39) |
S968P |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,460 (GRCm39) |
T598A |
probably benign |
Het |
| Slc2a2 |
G |
A |
3: 28,780,439 (GRCm39) |
M375I |
probably damaging |
Het |
| Tmed9 |
C |
T |
13: 55,744,691 (GRCm39) |
T173I |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,181,184 (GRCm39) |
D402G |
probably damaging |
Het |
| Ttc21a |
G |
T |
9: 119,769,602 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,511,295 (GRCm39) |
M503V |
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 |
|
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 |
|
R2309:Qsox2
|
UTSW |
2 |
26,118,445 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation