Incidental Mutation 'R9316:Qsox2'
| ID |
705866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qsox2
|
| Ensembl Gene |
ENSMUSG00000036327 |
| Gene Name |
quiescin Q6 sulfhydryl oxidase 2 |
| Synonyms |
Qscn6l1, QSOX2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R9316 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26099136-26127411 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 26101084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 475
(K475T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088807
(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
|
| SMART Domains |
Protein: ENSMUSP00000037128
Gene: ENSMUSG00000036327
| 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
AA Change: K475T
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000088807
Gene: ENSMUSG00000036327
AA Change: K475T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
91% (32/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
C |
A |
2: 158,477,274 (GRCm39) |
N408K |
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,747,832 (GRCm39) |
I35V |
probably benign |
Het |
| Asb10 |
G |
T |
5: 24,745,045 (GRCm39) |
N101K |
possibly damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,828,383 (GRCm39) |
V163A |
possibly damaging |
Het |
| Dmp1 |
G |
T |
5: 104,357,767 (GRCm39) |
D36Y |
probably benign |
Het |
| Eef1d |
T |
A |
15: 75,781,130 (GRCm39) |
|
probably benign |
Het |
| Gcm2 |
C |
T |
13: 41,259,328 (GRCm39) |
R47H |
probably damaging |
Het |
| Gm7145 |
A |
G |
1: 117,896,174 (GRCm39) |
N72S |
probably benign |
Het |
| Gpr45 |
T |
A |
1: 43,071,534 (GRCm39) |
V59E |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,250 (GRCm39) |
E246G |
possibly damaging |
Het |
| Hspa12a |
C |
T |
19: 58,793,079 (GRCm39) |
E369K |
probably benign |
Het |
| Iho1 |
T |
C |
9: 108,298,726 (GRCm39) |
T31A |
possibly damaging |
Het |
| Il6st |
T |
A |
13: 112,639,349 (GRCm39) |
N652K |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,381,973 (GRCm39) |
D672E |
probably damaging |
Het |
| Klk6 |
T |
C |
7: 43,477,912 (GRCm39) |
S95P |
probably benign |
Het |
| Lrrc51 |
C |
T |
7: 101,562,351 (GRCm39) |
R169H |
probably damaging |
Het |
| Or14c41 |
T |
C |
7: 86,235,134 (GRCm39) |
V217A |
probably benign |
Het |
| Or3a4 |
A |
T |
11: 73,944,892 (GRCm39) |
I231N |
probably damaging |
Het |
| Pacsin1 |
A |
G |
17: 27,924,707 (GRCm39) |
K186E |
possibly damaging |
Het |
| Pate3 |
C |
T |
9: 35,557,374 (GRCm39) |
C94Y |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,709,089 (GRCm39) |
T742M |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,784,659 (GRCm39) |
S779T |
probably damaging |
Het |
| Prep |
A |
T |
10: 44,967,192 (GRCm39) |
K75M |
probably damaging |
Het |
| Rfng |
A |
T |
11: 120,674,863 (GRCm39) |
D42E |
unknown |
Het |
| Ripor2 |
C |
T |
13: 24,905,719 (GRCm39) |
T955M |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,717,387 (GRCm39) |
E4554K |
unknown |
Het |
| Slco1a5 |
A |
T |
6: 142,195,935 (GRCm39) |
L356H |
probably damaging |
Het |
| Tbc1d21 |
G |
A |
9: 58,274,215 (GRCm39) |
A30V |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,430,855 (GRCm39) |
H158N |
possibly damaging |
Het |
| Tmem217 |
A |
G |
17: 29,745,383 (GRCm39) |
F116L |
probably benign |
Het |
| Tnfrsf13c |
A |
G |
15: 82,108,021 (GRCm39) |
I119T |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,017,604 (GRCm39) |
R736H |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,313 (GRCm39) |
R833S |
possibly damaging |
Het |
| Zfp330 |
A |
G |
8: 83,491,487 (GRCm39) |
S229P |
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 |
|
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 |
|
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 |
|
|
Z1176:Qsox2
|
UTSW |
2 |
26,107,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTATCGCCATGACTGCC -3'
(R):5'- ACGCATACTCTGTGGACCAG -3'
Sequencing Primer
(F):5'- CCCAGGGTCTCTACACAGCTG -3'
(R):5'- CAGTCCTGGTGAGTGGGAAGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation