Incidental Mutation 'R5081:Qsox1'
ID 387107
Institutional Source Beutler Lab
Gene Symbol Qsox1
Ensembl Gene ENSMUSG00000033684
Gene Name quiescin Q6 sulfhydryl oxidase 1
Synonyms Qscn6, b2b2673Clo, QSOX, 1300003H02Rik
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.675) question?
Stock # R5081 (G1)
Quality Score 107
Status Validated
Chromosome 1
Chromosomal Location 155653901-155688645 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) G to T at 155688581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035325] [ENSMUST00000111764] [ENSMUST00000194632]
AlphaFold Q8BND5
Predicted Effect probably benign
Transcript: ENSMUST00000035325
SMART Domains Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684

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
SMART Domains Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684

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: ENSMUST00000140809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151368
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y 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
R4938:Qsox1 UTSW 1 155,655,414 (GRCm39) missense probably benign 0.01
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'- GTTAGCAAGCTCCTTCCACG -3'
(R):5'- TAACGACTATGCCAACGGACTC -3'

Sequencing Primer
(F):5'- ACAGTGGGACGCACCGAATC -3'
(R):5'- TCAACGACCTCGAGTGCG -3'
Posted On 2016-06-06