Incidental Mutation 'R4938:Qsox1'
ID 382812
Institutional Source Beutler Lab
Gene Symbol Qsox1
Ensembl Gene ENSMUSG00000033684
Gene Name quiescin Q6 sulfhydryl oxidase 1
Synonyms Qscn6, b2b2673Clo, QSOX, 1300003H02Rik
MMRRC Submission 042537-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.675) question?
Stock # R4938 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 155653901-155688645 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155655414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 583 (E583G)
Ref Sequence ENSEMBL: ENSMUSP00000107394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035325] [ENSMUST00000111764] [ENSMUST00000194632]
AlphaFold Q8BND5
Predicted Effect probably benign
Transcript: ENSMUST00000035325
AA Change: E583G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684
AA Change: E583G

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000111764
AA Change: E583G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684
AA Change: E583G

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000194632
SMART Domains Protein: ENSMUSP00000142301
Gene: ENSMUSG00000033684

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000195419
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 99% (74/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl14ep G T 2: 106,799,663 (GRCm39) H59Q probably damaging Het
Atp6v0a4 T A 6: 38,055,749 (GRCm39) I321F possibly damaging Het
Cdr2l A G 11: 115,284,651 (GRCm39) D329G possibly damaging Het
Cep55 A G 19: 38,058,364 (GRCm39) E319G probably damaging Het
Cfhr2 C T 1: 139,741,265 (GRCm39) V237I probably benign Het
Clasrp A G 7: 19,318,703 (GRCm39) probably null Het
Col12a1 C A 9: 79,607,632 (GRCm39) E399* probably null Het
Cyp19a1 T A 9: 54,080,647 (GRCm39) I237F probably benign Het
Dnajc6 T G 4: 101,494,010 (GRCm39) N847K probably damaging Het
E330013P04Rik C G 19: 60,150,453 (GRCm39) noncoding transcript Het
Entpd2 A G 2: 25,289,429 (GRCm39) T304A probably benign Het
Etl4 A G 2: 20,803,460 (GRCm39) T779A probably benign Het
Fam107b A T 2: 3,773,907 (GRCm39) I35L probably benign Het
Fgg A T 3: 82,920,175 (GRCm39) Y318F probably benign Het
Fitm1 A C 14: 55,814,076 (GRCm39) T191P probably damaging Het
Fras1 A G 5: 96,924,583 (GRCm39) M3675V probably damaging Het
Fry C T 5: 150,401,454 (GRCm39) R731W probably damaging Het
Galnt17 A T 5: 131,335,237 (GRCm39) S68T probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Grm1 C T 10: 10,812,257 (GRCm39) A256T probably damaging Het
Hoxd13 A G 2: 74,499,027 (GRCm39) Y125C probably benign Het
Hspa14 A T 2: 3,492,646 (GRCm39) I373K probably benign Het
Ifnlr1 A G 4: 135,432,593 (GRCm39) E343G probably benign Het
Ighv5-9 A G 12: 113,625,582 (GRCm39) S54P probably benign Het
Insyn2b G A 11: 34,352,231 (GRCm39) G91E probably damaging Het
Irf2bpl A G 12: 86,928,892 (GRCm39) S594P possibly damaging Het
Kcnq2 A G 2: 180,728,766 (GRCm39) S548P probably damaging Het
Lrp2 G A 2: 69,302,712 (GRCm39) R3006W probably damaging Het
Lrrc4c A T 2: 97,459,646 (GRCm39) I91F probably damaging Het
Mdh1b T C 1: 63,750,663 (GRCm39) D435G probably benign Het
Mettl3 A T 14: 52,537,184 (GRCm39) S182T probably damaging Het
Mllt6 A G 11: 97,569,233 (GRCm39) T862A probably benign Het
Mmp27 G T 9: 7,578,983 (GRCm39) R412I probably damaging Het
Mstn A G 1: 53,105,582 (GRCm39) N308S possibly damaging Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Ngf C T 3: 102,427,790 (GRCm39) R180W probably damaging Het
Notch1 G A 2: 26,364,136 (GRCm39) Q862* probably null Het
Nsrp1 T C 11: 76,936,570 (GRCm39) D542G probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or5b21 T A 19: 12,839,916 (GRCm39) M259K probably damaging Het
Or8b43 T A 9: 38,360,679 (GRCm39) D170E probably benign Het
Papln C T 12: 83,829,677 (GRCm39) P911S probably benign Het
Pdxdc1 A G 16: 13,693,933 (GRCm39) V163A probably benign Het
Plekhj1 A T 10: 80,633,609 (GRCm39) I76N probably damaging Het
Pnp2 A G 14: 51,201,025 (GRCm39) probably null Het
Polr3gl T C 3: 96,487,208 (GRCm39) E89G probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Prss37 A G 6: 40,491,917 (GRCm39) I221T possibly damaging Het
Ptx4 C T 17: 25,342,139 (GRCm39) Q205* probably null Het
Riok3 T A 18: 12,288,300 (GRCm39) N492K probably benign Het
Sec13 A G 6: 113,712,153 (GRCm39) W61R probably damaging Het
Slc20a2 T C 8: 23,051,221 (GRCm39) V418A possibly damaging Het
Smad9 G A 3: 54,696,651 (GRCm39) V239I probably benign Het
Stmn2 A G 3: 8,610,792 (GRCm39) E92G probably damaging Het
Taf1c A G 8: 120,325,537 (GRCm39) V775A probably benign Het
Thsd7a T A 6: 12,330,991 (GRCm39) I1384L probably benign Het
Tnxb A G 17: 34,932,606 (GRCm39) Y2275C probably damaging Het
Trmo G T 4: 46,382,388 (GRCm39) T243N probably benign Het
Tyrp1 C T 4: 80,758,883 (GRCm39) A252V probably damaging Het
Vasp T C 7: 18,991,642 (GRCm39) *376W probably null Het
Vmn1r231 T C 17: 21,110,613 (GRCm39) I101V possibly damaging Het
Zfp532 T C 18: 65,756,837 (GRCm39) S257P probably benign Het
Zfp563 G A 17: 33,324,683 (GRCm39) C426Y probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp703 C A 8: 27,469,801 (GRCm39) H488Q probably damaging Het
Zfp964 A G 8: 70,116,758 (GRCm39) N452D possibly damaging Het
Zfyve28 A C 5: 34,390,698 (GRCm39) Y188D probably damaging Het
Other mutations in Qsox1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4282:Qsox1 UTSW 1 155,662,671 (GRCm39) critical splice acceptor site probably null
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'- TCTTGCTCAAGTGTTGCTGC -3'
(R):5'- TAATGAACTCAACGGACAGGTGC -3'

Sequencing Primer
(F):5'- AAGTGTTGCTGCCCGGG -3'
(R):5'- TCAACGGACAGGTGCCTTTG -3'
Posted On 2016-04-27