Incidental Mutation 'R0037:Enox1'
ID 15484
Institutional Source Beutler Lab
Gene Symbol Enox1
Ensembl Gene ENSMUSG00000022012
Gene Name ecto-NOX disulfide-thiol exchanger 1
Synonyms D230005D02Rik
MMRRC Submission 038331-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0037 (G1)
Quality Score
Status Validated
Chromosome 14
Chromosomal Location 77394203-77959200 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 77936750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022589] [ENSMUST00000227662] [ENSMUST00000227831]
AlphaFold Q8BHR2
Predicted Effect probably benign
Transcript: ENSMUST00000022589
SMART Domains Protein: ENSMUSP00000022589
Gene: ENSMUSG00000022012

DomainStartEndE-ValueType
low complexity region 95 105 N/A INTRINSIC
RRM 143 209 2.41e-8 SMART
low complexity region 233 251 N/A INTRINSIC
coiled coil region 307 342 N/A INTRINSIC
low complexity region 395 406 N/A INTRINSIC
coiled coil region 425 527 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227662
Predicted Effect probably benign
Transcript: ENSMUST00000227831
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 73.9%
  • 10x: 52.8%
  • 20x: 32.9%
Validation Efficiency 94% (83/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G A 8: 111,769,891 (GRCm39) R330Q possibly damaging Het
Amph A T 13: 19,284,823 (GRCm39) S250C possibly damaging Het
Ankrd61 T C 5: 143,831,795 (GRCm39) N3S probably damaging Het
Camsap2 C T 1: 136,209,630 (GRCm39) E621K probably damaging Het
Cpt2 A G 4: 107,765,171 (GRCm39) S152P probably damaging Het
Csmd1 T A 8: 15,967,248 (GRCm39) Q3205L probably damaging Het
Dag1 G T 9: 108,084,552 (GRCm39) P863Q probably damaging Het
Dclk1 A G 3: 55,163,480 (GRCm39) I191V probably benign Het
Ddhd1 A G 14: 45,847,967 (GRCm39) L567P probably damaging Het
Exoc3 T C 13: 74,347,658 (GRCm39) E104G probably damaging Het
Foxp1 T A 6: 99,139,930 (GRCm39) Q17L probably damaging Het
Fscn1 A G 5: 142,956,449 (GRCm39) probably benign Het
Fut8 T C 12: 77,411,811 (GRCm39) V91A probably benign Het
Gm5475 T A 15: 100,322,083 (GRCm39) Y77* probably null Het
Gm5800 T C 14: 51,953,605 (GRCm39) probably benign Het
Hs2st1 T A 3: 144,143,405 (GRCm39) K213* probably null Het
Il5ra T A 6: 106,719,647 (GRCm39) Y62F probably damaging Het
Inpp5d A G 1: 87,635,851 (GRCm39) E734G probably damaging Het
Insig2 A T 1: 121,234,649 (GRCm39) C194S probably damaging Het
Lemd3 A C 10: 120,761,361 (GRCm39) H898Q possibly damaging Het
Lrp4 A G 2: 91,301,548 (GRCm39) T43A probably benign Het
Mast3 C T 8: 71,236,343 (GRCm39) probably null Het
Melk T C 4: 44,360,864 (GRCm39) probably benign Het
Myo10 C T 15: 25,666,618 (GRCm39) probably benign Het
Nlrc5 G A 8: 95,216,163 (GRCm39) V967M probably benign Het
Nlrp9b T A 7: 19,757,647 (GRCm39) F295I probably damaging Het
Phf3 A T 1: 30,843,999 (GRCm39) D1653E probably benign Het
Ppfia4 A T 1: 134,251,827 (GRCm39) L449Q probably damaging Het
Ppp1r16b T A 2: 158,599,129 (GRCm39) I367N probably damaging Het
Ralgapb T C 2: 158,279,331 (GRCm39) L139S probably damaging Het
Slc20a1 T C 2: 129,052,692 (GRCm39) V658A probably damaging Het
Son C A 16: 91,461,616 (GRCm39) A347E probably damaging Het
Tprg1l C A 4: 154,244,594 (GRCm39) V134L possibly damaging Het
Trim24 A T 6: 37,934,484 (GRCm39) N733I probably damaging Het
Uggt1 A T 1: 36,225,013 (GRCm39) D540E probably benign Het
Urb2 T A 8: 124,773,934 (GRCm39) F1488L probably damaging Het
Utp20 T C 10: 88,634,266 (GRCm39) D810G probably benign Het
Zfp473 T A 7: 44,383,324 (GRCm39) K335N probably damaging Het
Other mutations in Enox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Enox1 APN 14 77,819,844 (GRCm39) missense possibly damaging 0.63
IGL01376:Enox1 APN 14 77,489,283 (GRCm39) intron probably benign
IGL01509:Enox1 APN 14 77,936,713 (GRCm39) missense probably damaging 1.00
IGL01684:Enox1 APN 14 77,816,533 (GRCm39) missense possibly damaging 0.81
IGL01874:Enox1 APN 14 77,816,602 (GRCm39) missense probably damaging 1.00
IGL03324:Enox1 APN 14 77,852,925 (GRCm39) missense probably damaging 1.00
Soft UTSW 14 77,723,457 (GRCm39) intron probably benign
R0112:Enox1 UTSW 14 77,936,638 (GRCm39) missense possibly damaging 0.77
R0543:Enox1 UTSW 14 77,744,399 (GRCm39) splice site probably benign
R0569:Enox1 UTSW 14 77,875,117 (GRCm39) missense probably damaging 0.99
R0708:Enox1 UTSW 14 77,830,352 (GRCm39) missense probably benign 0.28
R0811:Enox1 UTSW 14 77,819,876 (GRCm39) missense probably damaging 0.99
R0812:Enox1 UTSW 14 77,819,876 (GRCm39) missense probably damaging 0.99
R1417:Enox1 UTSW 14 77,723,445 (GRCm39) intron probably benign
R1654:Enox1 UTSW 14 77,848,814 (GRCm39) missense possibly damaging 0.87
R1678:Enox1 UTSW 14 77,815,096 (GRCm39) missense probably benign 0.00
R1817:Enox1 UTSW 14 77,852,915 (GRCm39) missense possibly damaging 0.84
R1976:Enox1 UTSW 14 77,906,233 (GRCm39) missense probably benign
R2520:Enox1 UTSW 14 77,819,839 (GRCm39) missense probably damaging 0.99
R3880:Enox1 UTSW 14 77,848,826 (GRCm39) missense possibly damaging 0.49
R4096:Enox1 UTSW 14 77,815,160 (GRCm39) missense probably damaging 0.99
R4885:Enox1 UTSW 14 77,958,290 (GRCm39) missense probably damaging 1.00
R4998:Enox1 UTSW 14 77,738,875 (GRCm39) intron probably benign
R5110:Enox1 UTSW 14 77,945,127 (GRCm39) critical splice donor site probably null
R5341:Enox1 UTSW 14 77,815,096 (GRCm39) missense possibly damaging 0.94
R5469:Enox1 UTSW 14 77,830,414 (GRCm39) missense probably benign 0.00
R5596:Enox1 UTSW 14 77,816,493 (GRCm39) missense probably benign 0.42
R5833:Enox1 UTSW 14 77,744,379 (GRCm39) missense probably benign 0.01
R5892:Enox1 UTSW 14 77,723,457 (GRCm39) intron probably benign
R6174:Enox1 UTSW 14 77,745,627 (GRCm39) missense possibly damaging 0.93
R6267:Enox1 UTSW 14 77,815,204 (GRCm39) missense probably damaging 1.00
R6867:Enox1 UTSW 14 77,936,739 (GRCm39) critical splice donor site probably null
R7069:Enox1 UTSW 14 77,848,764 (GRCm39) missense probably damaging 0.99
R7219:Enox1 UTSW 14 77,958,284 (GRCm39) missense probably benign 0.15
R7316:Enox1 UTSW 14 77,958,298 (GRCm39) missense probably benign 0.01
R7738:Enox1 UTSW 14 77,815,220 (GRCm39) missense probably damaging 0.99
R8495:Enox1 UTSW 14 77,870,012 (GRCm39) missense probably benign 0.00
R8838:Enox1 UTSW 14 77,819,950 (GRCm39) missense probably benign
R9251:Enox1 UTSW 14 77,852,997 (GRCm39) critical splice donor site probably null
Z1177:Enox1 UTSW 14 77,906,187 (GRCm39) missense probably benign 0.01
Posted On 2012-12-21