Incidental Mutation 'IGL02392:Qsox1'
| ID |
294260 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Qsox1
|
| Ensembl Gene |
ENSMUSG00000033684 |
| Gene Name |
quiescin Q6 sulfhydryl oxidase 1 |
| Synonyms |
Qscn6, b2b2673Clo, QSOX, 1300003H02Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.675)
|
| Stock # |
IGL02392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
155653901-155688645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155688346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 67
(E67G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035325]
[ENSMUST00000111764]
[ENSMUST00000194632]
|
| AlphaFold |
Q8BND5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035325
AA Change: E67G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684
AA Change: E67G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
29 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
46 |
149 |
9e-18 |
PFAM |
|
low complexity region
|
276 |
286 |
N/A |
INTRINSIC |
|
Pfam:Evr1_Alr
|
408 |
507 |
7e-29 |
PFAM |
|
low complexity region
|
679 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
705 |
N/A |
INTRINSIC |
|
transmembrane domain
|
709 |
731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111764
AA Change: E67G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684
AA Change: E67G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
29 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
45 |
149 |
1.7e-18 |
PFAM |
|
low complexity region
|
276 |
286 |
N/A |
INTRINSIC |
|
Pfam:Evr1_Alr
|
408 |
508 |
1.5e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151368
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194632
AA Change: E67G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142301
Gene: ENSMUSG00000033684
AA Change: E67G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
29 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
45 |
149 |
1.3e-18 |
PFAM |
|
low complexity region
|
276 |
286 |
N/A |
INTRINSIC |
|
Pfam:Evr1_Alr
|
408 |
508 |
1.2e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for an ENU-induced mutation show cardiovascular phenotypes including persistent truncus arteriosus, atriventricular septal defects and vascular ring, as well as eye defects, short snout, micrognathia, cleft palate, tracheosophageal fistula, polydactyly and spleen hypoplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,133,997 (GRCm39) |
N8S |
probably benign |
Het |
| Cdh8 |
G |
A |
8: 99,757,387 (GRCm39) |
T737M |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,711,920 (GRCm39) |
|
probably benign |
Het |
| Cenph |
T |
A |
13: 100,909,269 (GRCm39) |
Q46L |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,200,277 (GRCm39) |
C1395R |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,037,025 (GRCm39) |
|
probably benign |
Het |
| Dolk |
T |
C |
2: 30,175,740 (GRCm39) |
N102D |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Farp2 |
G |
A |
1: 93,505,372 (GRCm39) |
R368Q |
probably damaging |
Het |
| Fermt3 |
A |
T |
19: 6,996,183 (GRCm39) |
M4K |
probably benign |
Het |
| Fndc8 |
A |
C |
11: 82,789,429 (GRCm39) |
T196P |
probably damaging |
Het |
| Galc |
G |
A |
12: 98,173,672 (GRCm39) |
T630I |
probably damaging |
Het |
| Gm21970 |
T |
G |
16: 91,211,545 (GRCm39) |
S128A |
possibly damaging |
Het |
| Gpr146 |
T |
C |
5: 139,378,533 (GRCm39) |
S112P |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,764,276 (GRCm39) |
S51P |
probably damaging |
Het |
| Htra2 |
G |
T |
6: 83,031,280 (GRCm39) |
T43N |
possibly damaging |
Het |
| Lnpep |
T |
C |
17: 17,799,445 (GRCm39) |
Y70C |
possibly damaging |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mtdh |
A |
T |
15: 34,099,723 (GRCm39) |
N158Y |
probably damaging |
Het |
| Neo1 |
A |
T |
9: 58,833,094 (GRCm39) |
H550Q |
possibly damaging |
Het |
| Or2h1b |
C |
T |
17: 37,461,979 (GRCm39) |
V295I |
probably benign |
Het |
| Or5p57 |
A |
C |
7: 107,665,710 (GRCm39) |
F68L |
probably benign |
Het |
| Pex1 |
C |
T |
5: 3,655,952 (GRCm39) |
Q260* |
probably null |
Het |
| Pex6 |
T |
C |
17: 47,034,425 (GRCm39) |
V758A |
probably damaging |
Het |
| Rimbp2 |
C |
T |
5: 128,848,861 (GRCm39) |
S895N |
probably benign |
Het |
| Rnls |
A |
G |
19: 33,180,012 (GRCm39) |
V28A |
possibly damaging |
Het |
| Spidr |
T |
C |
16: 15,707,494 (GRCm39) |
*934W |
probably null |
Het |
| Spta1 |
A |
T |
1: 174,046,380 (GRCm39) |
M1654L |
probably damaging |
Het |
| Srbd1 |
C |
A |
17: 86,295,801 (GRCm39) |
V870F |
probably benign |
Het |
| Suco |
A |
T |
1: 161,662,136 (GRCm39) |
M765K |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,440,178 (GRCm39) |
Y610H |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,945,141 (GRCm39) |
N238S |
probably benign |
Het |
| Them7 |
T |
A |
2: 105,209,220 (GRCm39) |
L180* |
probably null |
Het |
| Trim45 |
A |
G |
3: 100,832,621 (GRCm39) |
I285V |
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,601,887 (GRCm39) |
S10265P |
probably damaging |
Het |
| Vgll3 |
A |
T |
16: 65,612,556 (GRCm39) |
Y13F |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,061,731 (GRCm39) |
M544K |
unknown |
Het |
| Ypel1 |
T |
C |
16: 16,906,702 (GRCm39) |
T500A |
probably benign |
Het |
| Zmym1 |
T |
A |
4: 126,942,256 (GRCm39) |
S711C |
probably damaging |
Het |
|
| Other mutations in Qsox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB003:Qsox1
|
UTSW |
1 |
155,688,533 (GRCm39) |
missense |
unknown |
|
|
BB013:Qsox1
|
UTSW |
1 |
155,688,533 (GRCm39) |
missense |
unknown |
|
|
R1799:Qsox1
|
UTSW |
1 |
155,670,364 (GRCm39) |
missense |
probably null |
|
|
R1833:Qsox1
|
UTSW |
1 |
155,666,791 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1874:Qsox1
|
UTSW |
1 |
155,688,385 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4282:Qsox1
|
UTSW |
1 |
155,662,671 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4938:Qsox1
|
UTSW |
1 |
155,655,414 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5081:Qsox1
|
UTSW |
1 |
155,688,581 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5217:Qsox1
|
UTSW |
1 |
155,666,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5303:Qsox1
|
UTSW |
1 |
155,655,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5761:Qsox1
|
UTSW |
1 |
155,655,274 (GRCm39) |
missense |
probably benign |
|
|
R5763:Qsox1
|
UTSW |
1 |
155,655,625 (GRCm39) |
missense |
probably benign |
|
|
R5932:Qsox1
|
UTSW |
1 |
155,665,079 (GRCm39) |
missense |
probably benign |
|
|
R6765:Qsox1
|
UTSW |
1 |
155,666,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6802:Qsox1
|
UTSW |
1 |
155,671,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7926:Qsox1
|
UTSW |
1 |
155,688,533 (GRCm39) |
missense |
unknown |
|
|
R8857:Qsox1
|
UTSW |
1 |
155,658,333 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8986:Qsox1
|
UTSW |
1 |
155,666,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9359:Qsox1
|
UTSW |
1 |
155,658,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9366:Qsox1
|
UTSW |
1 |
155,665,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9403:Qsox1
|
UTSW |
1 |
155,658,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Qsox1
|
UTSW |
1 |
155,671,135 (GRCm39) |
frame shift |
probably null |
|
|
R9803:Qsox1
|
UTSW |
1 |
155,658,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation