Incidental Mutation 'IGL01105:Qsox2'
| ID |
50524 |
| 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 # |
IGL01105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26099136-26127411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26099697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 609
(V609A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028302]
[ENSMUST00000036187]
[ENSMUST00000054099]
[ENSMUST00000091263]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028302
|
| SMART Domains |
Protein: ENSMUSP00000028302
Gene: ENSMUSG00000026934
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
|
LIM
|
35 |
86 |
4.18e-17 |
SMART |
|
LIM
|
94 |
149 |
7.8e-17 |
SMART |
|
HOX
|
162 |
224 |
7.13e-23 |
SMART |
|
low complexity region
|
237 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
353 |
362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036187
AA Change: V609A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000037128
Gene: ENSMUSG00000036327
AA Change: V609A
| 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: ENSMUST00000054099
|
| SMART Domains |
Protein: ENSMUSP00000056822
Gene: ENSMUSG00000026934
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
33 |
84 |
4.18e-17 |
SMART |
|
LIM
|
92 |
147 |
7.8e-17 |
SMART |
|
HOX
|
160 |
222 |
7.13e-23 |
SMART |
|
low complexity region
|
235 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
360 |
N/A |
INTRINSIC |
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184787
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,862,885 (GRCm39) |
V302E |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,909,281 (GRCm39) |
D86G |
probably benign |
Het |
| Antxr2 |
G |
T |
5: 98,152,802 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,321,699 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
C |
T |
9: 107,873,060 (GRCm39) |
|
probably benign |
Het |
| Cdkn2c |
C |
T |
4: 109,518,823 (GRCm39) |
V44I |
probably damaging |
Het |
| Chodl |
T |
C |
16: 78,738,151 (GRCm39) |
Y40H |
probably damaging |
Het |
| Heatr3 |
A |
G |
8: 88,888,521 (GRCm39) |
D391G |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 15,000,320 (GRCm39) |
T311A |
possibly damaging |
Het |
| Itpr1 |
G |
A |
6: 108,358,294 (GRCm39) |
S620N |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,401,680 (GRCm39) |
S1096T |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Krtap9-5 |
A |
G |
11: 99,839,459 (GRCm39) |
I53M |
unknown |
Het |
| Limk2 |
G |
A |
11: 3,305,475 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
G |
A |
3: 104,371,484 (GRCm39) |
R382* |
probably null |
Het |
| Mamdc2 |
T |
A |
19: 23,308,366 (GRCm39) |
D512V |
probably benign |
Het |
| Marchf1 |
A |
T |
8: 66,871,529 (GRCm39) |
T353S |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,219,567 (GRCm39) |
D312G |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,665,678 (GRCm39) |
M627I |
probably benign |
Het |
| Nipa2 |
A |
T |
7: 55,583,193 (GRCm39) |
I184N |
probably damaging |
Het |
| Npy1r |
A |
G |
8: 67,157,428 (GRCm39) |
K246R |
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,056,922 (GRCm39) |
|
probably benign |
Het |
| Pcdh12 |
T |
A |
18: 38,408,400 (GRCm39) |
E1035D |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,220,852 (GRCm39) |
D362E |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,388,873 (GRCm39) |
V1872L |
possibly damaging |
Het |
| Postn |
T |
G |
3: 54,270,131 (GRCm39) |
I70S |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,397,055 (GRCm39) |
S107P |
possibly damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,386,408 (GRCm39) |
V131A |
probably benign |
Het |
| Rhebl1 |
C |
A |
15: 98,776,379 (GRCm39) |
E139D |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,582,150 (GRCm39) |
S2848P |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,286,497 (GRCm39) |
I109N |
probably benign |
Het |
| Sim1 |
A |
G |
10: 50,857,630 (GRCm39) |
H460R |
probably damaging |
Het |
| Slc35f3 |
C |
A |
8: 127,025,553 (GRCm39) |
P10Q |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,249,031 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
G |
T |
11: 32,527,740 (GRCm39) |
V163L |
probably benign |
Het |
| Tssk6 |
A |
G |
8: 70,355,462 (GRCm39) |
T169A |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,921,550 (GRCm39) |
V256E |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,872 (GRCm39) |
I733F |
probably damaging |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation