Incidental Mutation 'IGL01509:Enox1'
ID 89148
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enox1
Ensembl Gene ENSMUSG00000022012
Gene Name ecto-NOX disulfide-thiol exchanger 1
Synonyms D230005D02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01509
Quality Score
Status
Chromosome 14
Chromosomal Location 77394203-77959200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77936713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 583 (S583P)
Ref Sequence ENSEMBL: ENSMUSP00000154512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022589] [ENSMUST00000227662] [ENSMUST00000227831]
AlphaFold Q8BHR2
Predicted Effect possibly damaging
Transcript: ENSMUST00000022589
AA Change: S564P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022589
Gene: ENSMUSG00000022012
AA Change: S564P

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 damaging
Transcript: ENSMUST00000227662
AA Change: S583P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000227831
Coding Region Coverage
Validation Efficiency
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T A 9: 99,495,819 (GRCm39) I85N probably benign Het
Bbof1 T A 12: 84,457,859 (GRCm39) N41K possibly damaging Het
Cdh10 A G 15: 18,986,884 (GRCm39) K372E possibly damaging Het
Clmn T A 12: 104,747,162 (GRCm39) Q795L probably benign Het
Dnai4 G A 4: 102,929,884 (GRCm39) P369L possibly damaging Het
Hmcn1 C T 1: 150,485,382 (GRCm39) G4407S probably damaging Het
Ifi206 T A 1: 173,313,142 (GRCm39) M109L probably benign Het
Ighmbp2 A G 19: 3,318,711 (GRCm39) M455T possibly damaging Het
Inpp4b T C 8: 82,617,332 (GRCm39) probably benign Het
Mctp2 A G 7: 71,909,017 (GRCm39) S99P probably benign Het
Mrgprb2 G A 7: 48,202,674 (GRCm39) T17M possibly damaging Het
Ogdhl T A 14: 32,059,716 (GRCm39) M410K probably damaging Het
Pard3b A T 1: 62,200,407 (GRCm39) R315S possibly damaging Het
Pde3b A G 7: 114,117,645 (GRCm39) Q625R probably benign Het
Plxna3 A G X: 73,376,039 (GRCm39) Q355R probably benign Het
Ptprm A T 17: 67,069,208 (GRCm39) F907I possibly damaging Het
Slc16a4 A C 3: 107,218,750 (GRCm39) probably null Het
Tasor T C 14: 27,181,731 (GRCm39) probably benign Het
Vmn1r82 A T 7: 12,039,096 (GRCm39) H123L probably damaging Het
Vmn2r1 T C 3: 64,010,466 (GRCm39) I568T probably benign Het
Zfp7 G A 15: 76,765,333 (GRCm39) V9M probably damaging Het
Zfp759 A G 13: 67,287,658 (GRCm39) N403S probably benign 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
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
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 2013-12-03