Incidental Mutation 'R4282:Qsox1'
| ID |
322925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qsox1
|
| Ensembl Gene |
ENSMUSG00000033684 |
| Gene Name |
quiescin Q6 sulfhydryl oxidase 1 |
| Synonyms |
Qscn6, b2b2673Clo, QSOX, 1300003H02Rik |
| MMRRC Submission |
041650-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.675)
|
| Stock # |
R4282 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
155653901-155688645 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 155662671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035325]
[ENSMUST00000035325]
[ENSMUST00000035325]
[ENSMUST00000111764]
[ENSMUST00000111764]
[ENSMUST00000111764]
[ENSMUST00000194632]
[ENSMUST00000194632]
[ENSMUST00000194632]
|
| AlphaFold |
Q8BND5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035325
|
| SMART Domains |
Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684
| 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 null
Transcript: ENSMUST00000035325
|
| SMART Domains |
Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684
| 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 null
Transcript: ENSMUST00000035325
|
| SMART Domains |
Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684
| 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 null
Transcript: ENSMUST00000111764
|
| SMART Domains |
Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684
| 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 |
probably null
Transcript: ENSMUST00000111764
|
| SMART Domains |
Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684
| 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 |
probably null
Transcript: ENSMUST00000111764
|
| SMART Domains |
Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684
| 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: ENSMUST00000130701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192644
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000194632
|
| SMART Domains |
Protein: ENSMUSP00000142301
Gene: ENSMUSG00000033684
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000194632
|
| SMART Domains |
Protein: ENSMUSP00000142301
Gene: ENSMUSG00000033684
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000194632
|
| SMART Domains |
Protein: ENSMUSP00000142301
Gene: ENSMUSG00000033684
| 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 |
|
| Meta Mutation Damage Score |
0.9504 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (59/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700092K14Rik |
A |
C |
11: 114,089,970 (GRCm39) |
|
noncoding transcript |
Het |
| Abca17 |
G |
T |
17: 24,518,034 (GRCm39) |
D758E |
possibly damaging |
Het |
| Adam28 |
A |
G |
14: 68,885,155 (GRCm39) |
V65A |
possibly damaging |
Het |
| Adgra2 |
T |
A |
8: 27,609,272 (GRCm39) |
M616K |
possibly damaging |
Het |
| Aldh3b2 |
A |
G |
19: 4,027,636 (GRCm39) |
D59G |
probably benign |
Het |
| Ankrd28 |
A |
G |
14: 31,467,182 (GRCm39) |
V260A |
possibly damaging |
Het |
| Bbs7 |
A |
G |
3: 36,627,720 (GRCm39) |
V689A |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,302,296 (GRCm39) |
F1653S |
probably benign |
Het |
| Cd55b |
T |
C |
1: 130,344,596 (GRCm39) |
D213G |
probably damaging |
Het |
| Colgalt2 |
G |
A |
1: 152,344,282 (GRCm39) |
V115M |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,447,427 (GRCm39) |
V1138A |
probably damaging |
Het |
| Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
| Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
| Dus2 |
C |
T |
8: 106,775,286 (GRCm39) |
A271V |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fancg |
T |
C |
4: 43,003,830 (GRCm39) |
D533G |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,340,770 (GRCm39) |
V1021A |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Hspb6 |
T |
C |
7: 30,252,889 (GRCm39) |
S44P |
possibly damaging |
Het |
| Jsrp1 |
T |
C |
10: 80,646,190 (GRCm39) |
I50V |
probably benign |
Het |
| Kansl1 |
T |
C |
11: 104,269,515 (GRCm39) |
N476S |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,722,946 (GRCm39) |
D810G |
probably damaging |
Het |
| Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
| Maml2 |
C |
A |
9: 13,531,406 (GRCm39) |
L207I |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,345,089 (GRCm39) |
E508D |
probably benign |
Het |
| Nav1 |
T |
A |
1: 135,385,651 (GRCm39) |
|
probably benign |
Het |
| Ndrg3 |
A |
T |
2: 156,790,214 (GRCm39) |
C90S |
possibly damaging |
Het |
| Orc1 |
A |
G |
4: 108,463,471 (GRCm39) |
S663G |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,583,195 (GRCm39) |
L767H |
probably damaging |
Het |
| Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
| Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
| Por |
C |
A |
5: 135,744,815 (GRCm39) |
T26K |
possibly damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,506,465 (GRCm39) |
V129D |
probably benign |
Het |
| Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
| Rxfp2 |
T |
G |
5: 149,993,735 (GRCm39) |
V585G |
possibly damaging |
Het |
| Sftpd |
G |
A |
14: 40,894,537 (GRCm39) |
T294I |
probably benign |
Het |
| Sh3gl1 |
A |
G |
17: 56,343,456 (GRCm39) |
S2P |
probably damaging |
Het |
| Slc38a10 |
A |
T |
11: 120,020,090 (GRCm39) |
F321I |
probably damaging |
Het |
| Slc4a10 |
T |
A |
2: 62,074,687 (GRCm39) |
|
probably null |
Het |
| Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
| Slit1 |
T |
C |
19: 41,602,856 (GRCm39) |
E985G |
probably benign |
Het |
| Smurf1 |
C |
T |
5: 144,819,403 (GRCm39) |
E575K |
probably damaging |
Het |
| Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
| Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
| Tmem182 |
T |
C |
1: 40,877,530 (GRCm39) |
I135T |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,073,922 (GRCm39) |
Y298C |
probably damaging |
Het |
| Trappc9 |
A |
G |
15: 72,462,641 (GRCm39) |
C1026R |
probably damaging |
Het |
| Troap |
A |
G |
15: 98,976,713 (GRCm39) |
D279G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,800,606 (GRCm39) |
C579S |
probably damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,275,045 (GRCm39) |
D126G |
probably damaging |
Het |
|
| Other mutations in Qsox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02392:Qsox1
|
APN |
1 |
155,688,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTACTCTCCAGAGATGCAC -3'
(R):5'- ACCTGTAGCAAGCTGGTTTCTC -3'
Sequencing Primer
(F):5'- TCTCCAGAGATGCACACTAATC -3'
(R):5'- AGTATACTCTGCCTGTTACACAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation