Incidental Mutation 'R1055:Qsox2'
ID94246
Institutional Source Beutler Lab
Gene Symbol Qsox2
Ensembl Gene ENSMUSG00000036327
Gene Namequiescin Q6 sulfhydryl oxidase 2
SynonymsQSOX2, Qscn6l1
MMRRC Submission 039145-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #R1055 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location26208637-26237525 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 26214125 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 298 (Y298H)
Ref Sequence ENSEMBL: ENSMUSP00000088807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036187] [ENSMUST00000091263]
Predicted Effect probably damaging
Transcript: ENSMUST00000036187
AA Change: Y463H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037128
Gene: ENSMUSG00000036327
AA Change: Y463H

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 damaging
Transcript: ENSMUST00000091263
AA Change: Y298H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088807
Gene: ENSMUSG00000036327
AA Change: Y298H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184787
Meta Mutation Damage Score 0.9499 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.3%
  • 20x: 87.5%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A G 14: 63,973,275 V168A possibly damaging Het
A1cf C A 19: 31,932,519 T237N probably benign Het
Actl10 A T 2: 154,552,668 Q180L probably benign Het
Adcy1 T C 11: 7,109,075 L327P probably damaging Het
Adcy7 T C 8: 88,318,057 probably benign Het
Ahctf1 G A 1: 179,763,486 T1243I possibly damaging Het
Akap6 C T 12: 52,880,672 Q122* probably null Het
Apob G A 12: 7,994,963 G861D probably damaging Het
Arhgef11 A C 3: 87,717,118 T539P probably benign Het
Cd244 T A 1: 171,577,276 V232E probably damaging Het
Chia1 A C 3: 106,130,883 D365A probably damaging Het
Clpsl2 C T 17: 28,549,526 Q5* probably null Het
Clrn1 T A 3: 58,865,110 I117F probably benign Het
Csmd3 A G 15: 47,881,537 L1354P probably damaging Het
Csn2 G A 5: 87,694,737 P144S possibly damaging Het
D17Wsu92e T C 17: 27,767,936 N272S probably damaging Het
Dcdc2a T A 13: 25,102,610 M172K probably damaging Het
Dnah9 A T 11: 66,160,011 W152R probably damaging Het
Dnmt3a T A 12: 3,872,864 S82T probably benign Het
Ebf1 A G 11: 44,632,775 K146E probably damaging Het
Gfpt2 A C 11: 49,827,211 R504S probably damaging Het
Gpank1 T A 17: 35,124,308 S255T probably damaging Het
Greb1 T C 12: 16,682,251 M1570V probably damaging Het
Gtf2i A T 5: 134,263,624 I403K probably damaging Het
Hoxc11 T A 15: 102,954,835 C104S probably damaging Het
Hsh2d G A 8: 72,200,460 D229N probably benign Het
Khdrbs2 A T 1: 32,644,157 probably benign Het
Lix1l G T 3: 96,621,310 G200V probably damaging Het
Lrrc23 T C 6: 124,778,151 N141S probably damaging Het
March11 A T 15: 26,309,662 D134V probably damaging Het
Myo9a A T 9: 59,855,370 T795S probably benign Het
Nhsl1 T A 10: 18,525,475 D782E probably benign Het
Nptxr T C 15: 79,790,255 probably benign Het
Nrp1 A G 8: 128,468,598 M512V possibly damaging Het
Ofcc1 C T 13: 40,208,829 G206R probably benign Het
Olfr1126 ATTGCTACTC A 2: 87,457,437 probably benign Het
Olfr1469 G A 19: 13,411,390 A274T probably benign Het
Pard3 T C 8: 127,378,280 F267S probably benign Het
Pomt2 G A 12: 87,147,480 T50M possibly damaging Het
Rabgap1 A G 2: 37,492,068 K450E possibly damaging Het
Rpa1 A T 11: 75,302,732 V591D probably damaging Het
Sall3 A C 18: 80,969,792 M1143R probably benign Het
Scgb1b19 G T 7: 33,287,343 A13S unknown Het
Scn1a T C 2: 66,337,996 T89A probably benign Het
Sdk2 C T 11: 113,838,646 silent Het
Sdr42e1 T G 8: 117,663,584 N106T probably damaging Het
Shpk A T 11: 73,215,119 M266L probably benign Het
Slc34a1 G T 13: 55,403,033 R139L probably benign Het
Smbd1 C A 16: 32,806,718 D67Y probably damaging Het
Srd5a3 A G 5: 76,153,638 N238S probably benign Het
Tmprss2 T C 16: 97,576,262 N212D probably damaging Het
Uap1 G T 1: 170,156,911 probably benign Het
Ugt1a6a A G 1: 88,139,014 M181V probably benign Het
Vmn2r32 C T 7: 7,474,327 W355* probably null Het
Vmn2r86 T A 10: 130,446,357 S797C probably damaging Het
Wiz A G 17: 32,387,642 S40P probably damaging Het
Zfand6 A G 7: 84,615,973 probably benign Het
Zfp280d G A 9: 72,329,167 probably null 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
IGL03323:Qsox2 APN 2 26220979 missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ATCCAGGCTCAAGGCTATGTGCTC -3'
(R):5'- CATTCACCACCCCAGTCATACTGTG -3'

Sequencing Primer
(F):5'- CTCAAGGCTATGTGCTCAAGTG -3'
(R):5'- TGCCTGGGGAACCCATC -3'
Posted On2014-01-05