Incidental Mutation 'R1417:Enox1'
ID 159871
Institutional Source Beutler Lab
Gene Symbol Enox1
Ensembl Gene ENSMUSG00000022012
Gene Name ecto-NOX disulfide-thiol exchanger 1
Synonyms D230005D02Rik
MMRRC Submission 039473-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1417 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 77394203-77959200 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 77723445 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 noncoding transcript
Transcript: ENSMUST00000088880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163416
Predicted Effect probably benign
Transcript: ENSMUST00000227662
Predicted Effect probably benign
Transcript: ENSMUST00000227831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228148
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.8%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 A G 16: 29,117,053 (GRCm39) V565A probably benign Het
Atp6v1b1 T C 6: 83,730,862 (GRCm39) S196P probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ces1a C T 8: 93,749,044 (GRCm39) D456N probably benign Het
Clu T A 14: 66,212,420 (GRCm39) Y124* probably null Het
Cnnm1 A G 19: 43,458,162 (GRCm39) E658G probably benign Het
Dnah9 T C 11: 65,846,573 (GRCm39) E2913G probably damaging Het
Edc4 G A 8: 106,614,487 (GRCm39) probably null Het
G6pc2 T C 2: 69,053,312 (GRCm39) V122A probably damaging Het
Galns T C 8: 123,311,652 (GRCm39) S453G possibly damaging Het
Gm12185 A C 11: 48,798,669 (GRCm39) V608G probably damaging Het
Hbq1a A G 11: 32,250,722 (GRCm39) D135G probably benign Het
Hspg2 A G 4: 137,244,947 (GRCm39) T891A probably benign Het
Ift172 T C 5: 31,413,993 (GRCm39) Y1445C probably damaging Het
Ipo8 C T 6: 148,719,550 (GRCm39) D132N probably benign Het
Klhl11 T C 11: 100,363,115 (GRCm39) E147G probably benign Het
Kmt2d A T 15: 98,764,311 (GRCm39) V41D probably damaging Het
Lrp1b T C 2: 40,894,653 (GRCm39) I2306V probably benign Het
Lrp5 A G 19: 3,636,425 (GRCm39) V1514A probably benign Het
Lrrtm2 A T 18: 35,347,011 (GRCm39) I97N probably damaging Het
Mtmr3 C A 11: 4,437,923 (GRCm39) V844L probably benign Het
Myh8 A G 11: 67,197,011 (GRCm39) E1832G probably damaging Het
Or4n5 T A 14: 50,133,020 (GRCm39) R80* probably null Het
Pcdhb16 A G 18: 37,611,180 (GRCm39) T47A probably benign Het
Pfkp T C 13: 6,655,755 (GRCm39) K293E probably benign Het
Phlpp2 G T 8: 110,667,313 (GRCm39) E1281* probably null Het
Prss23 T A 7: 89,159,392 (GRCm39) T226S probably damaging Het
Slc8a1 T G 17: 81,715,709 (GRCm39) M775L probably damaging Het
Stx12 A G 4: 132,587,853 (GRCm39) probably null Het
Syt11 A T 3: 88,669,289 (GRCm39) I201N probably damaging Het
Ttc21a A G 9: 119,783,327 (GRCm39) N543S probably damaging Het
Usf3 A G 16: 44,037,812 (GRCm39) N764S probably benign Het
Xylb A G 9: 119,193,606 (GRCm39) D100G probably benign Het
Zfp423 T C 8: 88,500,284 (GRCm39) probably null Het
Zkscan16 T C 4: 58,952,377 (GRCm39) V225A 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
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
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
Predicted Primers
Posted On 2014-03-14