Incidental Mutation 'BB003:Qsox1'
| ID |
642199 |
| Institutional Source |
Beutler Lab
|
| 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: 0.658)
|
| Stock # |
BB003
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
155653901-155688645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155688533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 5
(G5S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035325]
[ENSMUST00000111764]
[ENSMUST00000194632]
|
| AlphaFold |
Q8BND5 |
| PDB Structure |
C76A/C455S mutant of mouse QSOX1 containing an interdomain disulfide [X-RAY DIFFRACTION]
C76A/C455S mutant of mouse QSOX1 containing an interdomain disulfide [X-RAY DIFFRACTION]
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000035325
AA Change: G5S
|
| SMART Domains |
Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684
AA Change: G5S
| 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: G5S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684
AA Change: G5S
| 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 damaging
Transcript: ENSMUST00000194632
AA Change: G5S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142301
Gene: ENSMUSG00000033684
AA Change: G5S
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| BC016579 |
C |
A |
16: 45,449,825 (GRCm39) |
D198Y |
probably damaging |
Het |
| Cep170 |
A |
G |
1: 176,588,979 (GRCm39) |
S549P |
probably damaging |
Het |
| Cnih3 |
T |
C |
1: 181,277,566 (GRCm39) |
L96P |
probably damaging |
Het |
| Cnn2 |
T |
A |
10: 79,829,160 (GRCm39) |
L168Q |
probably damaging |
Het |
| Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
A |
G |
9: 114,446,883 (GRCm39) |
C398R |
probably damaging |
Het |
| Dcaf4 |
C |
A |
12: 83,580,703 (GRCm39) |
Y212* |
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,335,326 (GRCm39) |
T665A |
probably benign |
Het |
| Dnmt1 |
C |
A |
9: 20,818,855 (GRCm39) |
A1609S |
unknown |
Het |
| Dzip1 |
T |
C |
14: 119,120,911 (GRCm39) |
D682G |
probably benign |
Het |
| Fam76a |
A |
G |
4: 132,629,405 (GRCm39) |
L249P |
probably damaging |
Het |
| Fgf10 |
T |
C |
13: 118,925,752 (GRCm39) |
M177T |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Itln1 |
G |
A |
1: 171,359,261 (GRCm39) |
T73I |
probably benign |
Het |
| Jkamp |
T |
C |
12: 72,141,590 (GRCm39) |
Y197H |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lcor |
T |
C |
19: 41,571,008 (GRCm39) |
F67S |
probably benign |
Het |
| Lmf2 |
G |
A |
15: 89,236,624 (GRCm39) |
P514L |
probably damaging |
Het |
| Lmntd2 |
G |
T |
7: 140,790,258 (GRCm39) |
P610Q |
probably damaging |
Het |
| Map3k3 |
T |
C |
11: 106,036,548 (GRCm39) |
S225P |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,146,335 (GRCm39) |
Y182H |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,298,869 (GRCm39) |
V2055A |
possibly damaging |
Het |
| Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
| Myh8 |
C |
T |
11: 67,169,732 (GRCm39) |
P17L |
possibly damaging |
Het |
| Myt1l |
T |
A |
12: 29,861,651 (GRCm39) |
D144E |
unknown |
Het |
| Nfatc1 |
T |
C |
18: 80,740,881 (GRCm39) |
Y373C |
probably damaging |
Het |
| Pacs2 |
C |
T |
12: 113,024,372 (GRCm39) |
L418F |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,996,207 (GRCm39) |
I24T |
unknown |
Het |
| Pdcl |
C |
T |
2: 37,242,249 (GRCm39) |
G167E |
probably damaging |
Het |
| Pdcl |
A |
C |
2: 37,242,251 (GRCm39) |
S166R |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Sass6 |
T |
A |
3: 116,422,419 (GRCm39) |
S641T |
possibly damaging |
Het |
| Six1 |
T |
C |
12: 73,090,583 (GRCm39) |
N194S |
probably benign |
Het |
| Tagap |
T |
C |
17: 8,145,770 (GRCm39) |
|
probably null |
Het |
| Tiparp |
T |
C |
3: 65,460,946 (GRCm39) |
V645A |
possibly damaging |
Het |
| Tm2d2 |
T |
C |
8: 25,510,480 (GRCm39) |
V113A |
probably damaging |
Het |
| Tmprss6 |
C |
A |
15: 78,337,050 (GRCm39) |
R352L |
probably benign |
Het |
| Tslp |
A |
G |
18: 32,950,246 (GRCm39) |
E105G |
possibly damaging |
Het |
| Ttc41 |
A |
G |
10: 86,611,911 (GRCm39) |
E1093G |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,797 (GRCm39) |
R2686H |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,627,036 (GRCm39) |
Y541N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCAAGCTCCTTCCACGTC -3'
(R):5'- TGTAACGACTATGCCAACGG -3'
Sequencing Primer
(F):5'- GAGGCGAAGAACTCCACCG -3'
(R):5'- TCAACGACCTCGAGTGCG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation