Incidental Mutation 'IGL03323:Qsox2'
ID416552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Qsox2
Ensembl Gene ENSMUSG00000036327
Gene Namequiescin Q6 sulfhydryl oxidase 2
SynonymsQSOX2, Qscn6l1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL03323
Quality Score
Status
Chromosome2
Chromosomal Location26208637-26237525 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 26220979 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 125 (S125P)
Ref Sequence ENSEMBL: ENSMUSP00000088807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036187] [ENSMUST00000091263]
Predicted Effect probably benign
Transcript: ENSMUST00000036187
AA Change: S290P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037128
Gene: ENSMUSG00000036327
AA Change: S290P

DomainStartEndE-ValueType
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: ENSMUST00000091263
AA Change: S125P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088807
Gene: ENSMUSG00000036327
AA Change: S125P

DomainStartEndE-ValueType
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
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A T 14: 103,055,294 D418V probably damaging Het
Ahdc1 G A 4: 133,065,428 G1327S probably benign Het
Bcl2l15 A T 3: 103,833,403 I62L probably benign Het
Ccdc7a A T 8: 129,058,763 D105E probably benign Het
Cldn12 C A 5: 5,508,421 G2V probably damaging Het
Eapp G T 12: 54,673,615 H272N probably damaging Het
Fcrla A G 1: 170,927,545 probably benign Het
Fmnl3 C T 15: 99,321,281 G787S probably damaging Het
Fmo5 G T 3: 97,639,007 probably null Het
Golgb1 G T 16: 36,913,453 E1021* probably null Het
Hspa4 A T 11: 53,265,133 N648K probably benign Het
Iigp1 T C 18: 60,389,824 F5L probably benign Het
Lad1 T A 1: 135,830,974 probably null Het
Man2b2 T C 5: 36,818,514 D399G probably benign Het
Mc5r C T 18: 68,339,215 T215I probably benign Het
Mx2 A G 16: 97,546,375 S156G probably damaging Het
Necap2 A T 4: 141,068,222 I242N possibly damaging Het
Nme8 C T 13: 19,688,950 E175K probably benign Het
Notch4 T A 17: 34,582,471 C1098S probably damaging Het
Olfr345 T A 2: 36,640,141 M34K possibly damaging Het
Olfr8 T C 10: 78,955,600 Y132H probably benign Het
Osbpl9 A G 4: 109,062,459 probably benign Het
Prag1 T C 8: 36,140,008 S968P probably damaging Het
Rptn A G 3: 93,397,153 T598A probably benign Het
Slc2a2 G A 3: 28,726,290 M375I probably damaging Het
Tmed9 C T 13: 55,596,878 T173I probably damaging Het
Trank1 A G 9: 111,352,116 D402G probably damaging Het
Ttc21a G T 9: 119,940,536 probably benign Het
Vmn2r58 T C 7: 41,861,871 M503V probably benign Het
Other mutations in Qsox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Qsox2 APN 2 26222255 missense probably benign 0.15
IGL01067:Qsox2 APN 2 26228396 missense probably damaging 1.00
IGL01105:Qsox2 APN 2 26209685 missense probably benign 0.00
IGL02420:Qsox2 APN 2 26220719 missense probably benign 0.07
PIT4377001:Qsox2 UTSW 2 26220912 missense probably damaging 0.99
PIT4677001:Qsox2 UTSW 2 26222308 missense probably damaging 1.00
PIT4687001:Qsox2 UTSW 2 26222288 missense possibly damaging 0.93
R0559:Qsox2 UTSW 2 26214157 missense probably benign 0.05
R0594:Qsox2 UTSW 2 26214044 missense probably damaging 1.00
R1055:Qsox2 UTSW 2 26214125 missense probably damaging 1.00
R1657:Qsox2 UTSW 2 26220747 nonsense probably null
R1727:Qsox2 UTSW 2 26220958 missense probably benign 0.00
R1746:Qsox2 UTSW 2 26220638 missense probably benign
R1858:Qsox2 UTSW 2 26214062 missense probably damaging 1.00
R2309:Qsox2 UTSW 2 26228433 missense possibly damaging 0.61
R5291:Qsox2 UTSW 2 26217698 missense probably damaging 1.00
R5298:Qsox2 UTSW 2 26214062 missense probably damaging 0.96
R5524:Qsox2 UTSW 2 26217687 missense probably damaging 1.00
R5567:Qsox2 UTSW 2 26225218 start codon destroyed probably null
R5570:Qsox2 UTSW 2 26225218 start codon destroyed probably null
R5965:Qsox2 UTSW 2 26222221 missense probably benign 0.06
R6529:Qsox2 UTSW 2 26217741 missense probably damaging 1.00
R6957:Qsox2 UTSW 2 26217642 missense probably benign 0.40
R7185:Qsox2 UTSW 2 26220706 missense possibly damaging 0.63
R7250:Qsox2 UTSW 2 26228432 missense probably damaging 1.00
R7637:Qsox2 UTSW 2 26221020 missense probably damaging 1.00
R8076:Qsox2 UTSW 2 26224885 missense possibly damaging 0.55
Z1176:Qsox2 UTSW 2 26217666 missense probably damaging 1.00
Posted On2016-08-02