Incidental Mutation 'R8838:Enox1'
ID 674289
Institutional Source Beutler Lab
Gene Symbol Enox1
Ensembl Gene ENSMUSG00000022012
Gene Name ecto-NOX disulfide-thiol exchanger 1
Synonyms D230005D02Rik
MMRRC Submission 068666-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8838 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 77394203-77959200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 77819950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 235 (R235L)
Ref Sequence ENSEMBL: ENSMUSP00000022589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022589] [ENSMUST00000227662] [ENSMUST00000227831]
AlphaFold Q8BHR2
Predicted Effect probably benign
Transcript: ENSMUST00000022589
AA Change: R235L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022589
Gene: ENSMUSG00000022012
AA Change: R235L

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
AA Change: R235L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227831
AA Change: R235L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 109,920,881 (GRCm39) I1498F probably damaging Het
Aco2 T A 15: 81,796,128 (GRCm39) N508K probably damaging Het
Aff4 T C 11: 53,297,465 (GRCm39) S896P possibly damaging Het
Anapc2 T G 2: 25,163,546 (GRCm39) V261G probably benign Het
Atm A G 9: 53,427,851 (GRCm39) S420P probably damaging Het
Bag6 C T 17: 35,363,367 (GRCm39) R736C probably damaging Het
Brca2 A G 5: 150,465,005 (GRCm39) T1590A possibly damaging Het
Cacna2d3 C T 14: 28,691,220 (GRCm39) C35Y probably benign Het
Cep170b G A 12: 112,710,159 (GRCm39) R1433H probably damaging Het
Cmtm2a A G 8: 105,008,036 (GRCm39) C138R probably damaging Het
Cntnap5c T A 17: 58,198,964 (GRCm39) V86E Het
Cog7 A G 7: 121,549,106 (GRCm39) I385T probably damaging Het
Col28a1 A T 6: 8,091,839 (GRCm39) probably null Het
Dkk3 T C 7: 111,717,542 (GRCm39) E309G probably benign Het
Dnah10 T C 5: 124,842,614 (GRCm39) V1411A probably benign Het
Foxn1 T C 11: 78,252,438 (GRCm39) N317D possibly damaging Het
Grip2 G A 6: 91,762,721 (GRCm39) probably benign Het
Hmmr T C 11: 40,604,854 (GRCm39) T406A probably benign Het
Hpcal1 G A 12: 17,836,197 (GRCm39) R9H probably benign Het
Iglv3 A T 16: 19,060,132 (GRCm39) Y65* probably null Het
Itgal A G 7: 126,910,433 (GRCm39) Y514C probably damaging Het
Kcnk9 T C 15: 72,418,019 (GRCm39) E37G possibly damaging Het
Klhl40 A G 9: 121,609,107 (GRCm39) D424G probably benign Het
Lbr A G 1: 181,648,294 (GRCm39) L389P possibly damaging Het
Ly9 A G 1: 171,421,569 (GRCm39) Y561H probably damaging Het
Mcoln3 T C 3: 145,845,126 (GRCm39) F441L probably damaging Het
Muc20 G T 16: 32,613,829 (GRCm39) T516K possibly damaging Het
Naa35 T C 13: 59,775,775 (GRCm39) M551T probably benign Het
Nkx6-2 T A 7: 139,161,868 (GRCm39) T170S probably damaging Het
Nlrp4c T A 7: 6,069,337 (GRCm39) F413I Het
Or10w1 G A 19: 13,632,371 (GRCm39) V193M probably damaging Het
Or1s2 C A 19: 13,758,381 (GRCm39) T133K probably benign Het
Or6c1b T G 10: 129,273,065 (GRCm39) L128R probably damaging Het
Or8k22 T C 2: 86,163,317 (GRCm39) K128E possibly damaging Het
Pcdhga10 C T 18: 37,881,952 (GRCm39) T571I possibly damaging Het
Pla2g4a A T 1: 149,747,256 (GRCm39) M310K probably benign Het
Plaa T C 4: 94,471,791 (GRCm39) T353A probably benign Het
Rapgef1 T C 2: 29,627,458 (GRCm39) F1172S possibly damaging Het
Rfx2 T C 17: 57,087,877 (GRCm39) T505A possibly damaging Het
Rfx4 T C 10: 84,676,758 (GRCm39) V216A probably damaging Het
Rps6kb2 G T 19: 4,211,183 (GRCm39) A114D probably damaging Het
Sdc2 T A 15: 33,023,897 (GRCm39) L92* probably null Het
Slc18b1 A G 10: 23,696,764 (GRCm39) Y319C probably benign Het
Slc22a15 A T 3: 101,790,849 (GRCm39) Y219N probably damaging Het
Tarbp1 A T 8: 127,177,569 (GRCm39) probably benign Het
Tfap2d T C 1: 19,175,036 (GRCm39) L163P possibly damaging Het
Trank1 A G 9: 111,193,973 (GRCm39) I666V probably benign Het
Trav14-1 G T 14: 53,792,009 (GRCm39) A120S probably damaging Het
Trps1 T A 15: 50,753,007 (GRCm39) N20I probably benign Het
Txndc16 A G 14: 45,378,028 (GRCm39) Y682H probably damaging Het
Ube4a A T 9: 44,837,261 (GRCm39) D991E probably damaging Het
Zswim4 C T 8: 84,940,699 (GRCm39) R800Q 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
R0037:Enox1 UTSW 14 77,936,750 (GRCm39) splice site 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
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
Predicted Primers PCR Primer
(F):5'- TTCTCTCCTGAGGCACAGTTG -3'
(R):5'- AGCCTGACTAAGCAATGGC -3'

Sequencing Primer
(F):5'- ACAGTTGCTTAGCTTGTGGGAAATG -3'
(R):5'- TCCCTAGCCCGATGATGGAAC -3'
Posted On 2021-07-15