Incidental Mutation 'R6529:Qsox2'
| ID |
522151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qsox2
|
| Ensembl Gene |
ENSMUSG00000036327 |
| Gene Name |
quiescin Q6 sulfhydryl oxidase 2 |
| Synonyms |
Qscn6l1, QSOX2 |
| MMRRC Submission |
044655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6529 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26099136-26127411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26107753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 247
(C247S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036187]
[ENSMUST00000091263]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036187
AA Change: C412S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037128
Gene: ENSMUSG00000036327
AA Change: C412S
| 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 damaging
Transcript: ENSMUST00000091263
AA Change: C247S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088807
Gene: ENSMUSG00000036327
AA Change: C247S
| 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 |
|
| Meta Mutation Damage Score |
0.9309 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (41/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
T |
7: 78,739,479 (GRCm39) |
M296L |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,949,677 (GRCm39) |
|
probably null |
Het |
| B3galnt2 |
G |
T |
13: 14,170,377 (GRCm39) |
R242S |
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,098,750 (GRCm39) |
I218M |
possibly damaging |
Het |
| Casz1 |
G |
A |
4: 149,022,646 (GRCm39) |
E571K |
probably damaging |
Het |
| Ccdc163 |
A |
G |
4: 116,566,121 (GRCm39) |
|
probably null |
Het |
| Cd109 |
A |
G |
9: 78,619,907 (GRCm39) |
D1383G |
probably damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,610,065 (GRCm39) |
T95A |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,153,191 (GRCm39) |
E219G |
possibly damaging |
Het |
| Cibar1 |
A |
G |
4: 12,168,978 (GRCm39) |
V175A |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,494,034 (GRCm39) |
V1730D |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,491,335 (GRCm39) |
H348Y |
possibly damaging |
Het |
| Fbxo2 |
A |
T |
4: 148,249,511 (GRCm39) |
D187V |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,657 (GRCm39) |
Y2992F |
probably benign |
Het |
| Gle1 |
A |
T |
2: 29,825,539 (GRCm39) |
T10S |
possibly damaging |
Het |
| Got2 |
T |
C |
8: 96,615,013 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
T |
C |
10: 40,127,251 (GRCm39) |
T34A |
probably benign |
Het |
| H4c11 |
G |
T |
13: 21,919,476 (GRCm39) |
V71F |
possibly damaging |
Het |
| Klf15 |
C |
T |
6: 90,444,394 (GRCm39) |
T323I |
probably damaging |
Het |
| Krtap5-3 |
C |
A |
7: 141,756,079 (GRCm39) |
C305* |
probably null |
Het |
| Map2k6 |
A |
T |
11: 110,383,388 (GRCm39) |
D99V |
probably damaging |
Het |
| Nckap5l |
G |
T |
15: 99,324,475 (GRCm39) |
P676Q |
probably benign |
Het |
| Nup188 |
A |
T |
2: 30,216,466 (GRCm39) |
T757S |
possibly damaging |
Het |
| Or10ak13 |
C |
T |
4: 118,638,907 (GRCm39) |
V292I |
probably benign |
Het |
| Or51q1c |
T |
C |
7: 103,653,133 (GRCm39) |
V217A |
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,711,071 (GRCm39) |
A1384S |
probably damaging |
Het |
| Plekho2 |
C |
T |
9: 65,480,383 (GRCm39) |
R14H |
probably benign |
Het |
| Slc25a13 |
A |
G |
6: 6,073,451 (GRCm39) |
V469A |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,958,551 (GRCm39) |
T74A |
probably benign |
Het |
| Spmip7 |
T |
C |
11: 11,465,009 (GRCm39) |
F120S |
possibly damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,274,310 (GRCm39) |
T91A |
probably benign |
Het |
| Sult3a2 |
T |
C |
10: 33,655,733 (GRCm39) |
Y82C |
probably damaging |
Het |
| Taf1b |
A |
T |
12: 24,606,650 (GRCm39) |
H490L |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,771,014 (GRCm39) |
H2804Q |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,567,298 (GRCm39) |
I106V |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,901,143 (GRCm39) |
V333D |
probably damaging |
Het |
| Wdr46 |
T |
A |
17: 34,168,120 (GRCm39) |
L564Q |
possibly damaging |
Het |
| Wrn |
T |
C |
8: 33,826,004 (GRCm39) |
|
probably null |
Het |
| Zfp664 |
C |
T |
5: 124,963,352 (GRCm39) |
H249Y |
probably damaging |
Het |
| Zfp975 |
A |
C |
7: 42,311,325 (GRCm39) |
H429Q |
possibly 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 |
|
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 |
|
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 |
|
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'- TGCACTCCAACCAGACAGTG -3'
(R):5'- ACTCAAGATTCTCCAGTTTTAGCC -3'
Sequencing Primer
(F):5'- TGAACACAGAAGGCCACTAGTGC -3'
(R):5'- AATTATTGGTGTGCAGTGAGAAAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation