Incidental Mutation 'R1165:Fdxr'
ID 100962
Institutional Source Beutler Lab
Gene Symbol Fdxr
Ensembl Gene ENSMUSG00000018861
Gene Name ferredoxin reductase
Synonyms
MMRRC Submission 039238-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R1165 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115158850-115167876 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 115162608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021078] [ENSMUST00000106554]
AlphaFold Q61578
Predicted Effect probably benign
Transcript: ENSMUST00000021078
SMART Domains Protein: ENSMUSP00000021078
Gene: ENSMUSG00000018861

DomainStartEndE-ValueType
low complexity region 18 28 N/A INTRINSIC
Pfam:Pyr_redox_2 41 246 2.9e-10 PFAM
low complexity region 273 286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106554
SMART Domains Protein: ENSMUSP00000102164
Gene: ENSMUSG00000020734

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:ANF_receptor 100 306 6.9e-10 PFAM
PBPe 440 796 1.11e-79 SMART
Lig_chan-Glu_bd 448 500 2.79e-18 SMART
transmembrane domain 816 835 N/A INTRINSIC
Pfam:NMDAR2_C 837 926 1.1e-13 PFAM
low complexity region 941 975 N/A INTRINSIC
low complexity region 1041 1058 N/A INTRINSIC
low complexity region 1063 1076 N/A INTRINSIC
low complexity region 1173 1182 N/A INTRINSIC
low complexity region 1194 1203 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155130
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T G 13: 77,482,406 (GRCm39) C1209G probably benign Het
Abcg2 C A 6: 58,655,285 (GRCm39) L407I probably benign Het
Adtrp A G 13: 41,967,779 (GRCm39) V56A probably damaging Het
Angptl6 T G 9: 20,789,604 (GRCm39) N96T probably benign Het
Ank3 C A 10: 69,734,132 (GRCm39) N780K possibly damaging Het
AU040320 A T 4: 126,717,433 (GRCm39) probably benign Het
Best2 C T 8: 85,737,789 (GRCm39) R202H probably benign Het
Bod1l A T 5: 41,978,396 (GRCm39) S973T probably benign Het
Brca2 T A 5: 150,466,212 (GRCm39) V1992E probably damaging Het
Casp8ap2 C T 4: 32,640,563 (GRCm39) P539L probably benign Het
Ccr1 A T 9: 123,763,531 (GRCm39) V333E possibly damaging Het
Celf5 A T 10: 81,307,172 (GRCm39) V83E probably damaging Het
Col15a1 T C 4: 47,257,275 (GRCm39) probably benign Het
Coro1b C A 19: 4,199,901 (GRCm39) H81N probably damaging Het
Cwc22 A T 2: 77,734,242 (GRCm39) S686T probably damaging Het
Cyp2d26 C A 15: 82,678,242 (GRCm39) G45W probably damaging Het
Dysf T A 6: 84,044,051 (GRCm39) N297K probably damaging Het
Edem1 T A 6: 108,828,214 (GRCm39) L513Q probably damaging Het
Erich1 G A 8: 14,140,530 (GRCm39) probably benign Het
Fam91a1 T C 15: 58,302,518 (GRCm39) V286A possibly damaging Het
Gas7 T C 11: 67,561,512 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,705,397 (GRCm39) D151G probably damaging Het
Gm14410 A C 2: 176,885,282 (GRCm39) Y327* probably null Het
Grep1 A C 17: 23,929,489 (GRCm39) probably benign Het
H6pd A G 4: 150,080,413 (GRCm39) I136T possibly damaging Het
Hectd1 A T 12: 51,810,947 (GRCm39) probably benign Het
Hipk1 T C 3: 103,668,840 (GRCm39) T519A possibly damaging Het
Hpd A G 5: 123,314,153 (GRCm39) probably null Het
Insyn2b A G 11: 34,352,740 (GRCm39) T261A probably benign Het
Or6c76 A G 10: 129,612,302 (GRCm39) D188G probably damaging Het
Or7c19 T A 8: 85,957,400 (GRCm39) I92N probably damaging Het
Pcdha11 A G 18: 37,140,757 (GRCm39) probably benign Het
Pdgfrb T C 18: 61,197,074 (GRCm39) I170T probably benign Het
Rasgrp1 A T 2: 117,115,420 (GRCm39) F723I possibly damaging Het
Retnlg A G 16: 48,694,017 (GRCm39) T58A possibly damaging Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Rtel1 A G 2: 180,976,732 (GRCm39) K243E probably benign Het
Slc19a2 G A 1: 164,091,014 (GRCm39) G274D probably damaging Het
Slc22a27 T C 19: 7,887,059 (GRCm39) probably null Het
Slc6a1 T C 6: 114,288,790 (GRCm39) F266L probably damaging Het
Snx25 T G 8: 46,488,752 (GRCm39) I868L probably damaging Het
Spag16 A G 1: 70,036,036 (GRCm39) I355V probably benign Het
Tmem198 A T 1: 75,456,576 (GRCm39) probably benign Het
Traf3ip3 A C 1: 192,866,786 (GRCm39) S349A probably damaging Het
Trim17 A G 11: 58,862,041 (GRCm39) N358D possibly damaging Het
Trmu A G 15: 85,776,875 (GRCm39) T196A probably damaging Het
Tsen2 A G 6: 115,538,396 (GRCm39) Y291C probably damaging Het
Vps13d A G 4: 144,853,041 (GRCm39) F2358L probably benign Het
Wnt2 T C 6: 17,989,946 (GRCm39) H317R probably benign Het
Zfp120 A T 2: 149,961,849 (GRCm39) V33E probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Other mutations in Fdxr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Fdxr APN 11 115,160,402 (GRCm39) missense probably benign
IGL02524:Fdxr APN 11 115,162,086 (GRCm39) critical splice donor site probably null
IGL03195:Fdxr APN 11 115,166,918 (GRCm39) missense probably benign 0.29
R0371:Fdxr UTSW 11 115,166,915 (GRCm39) missense possibly damaging 0.66
R0749:Fdxr UTSW 11 115,167,671 (GRCm39) missense probably benign
R1819:Fdxr UTSW 11 115,166,930 (GRCm39) missense probably damaging 0.96
R2201:Fdxr UTSW 11 115,161,208 (GRCm39) missense probably benign 0.41
R2507:Fdxr UTSW 11 115,162,806 (GRCm39) missense probably damaging 0.98
R2508:Fdxr UTSW 11 115,162,806 (GRCm39) missense probably damaging 0.98
R3701:Fdxr UTSW 11 115,160,527 (GRCm39) missense probably damaging 0.99
R5004:Fdxr UTSW 11 115,160,399 (GRCm39) missense probably benign 0.05
R5333:Fdxr UTSW 11 115,163,084 (GRCm39) missense probably benign 0.13
R5944:Fdxr UTSW 11 115,160,672 (GRCm39) missense probably benign
R7124:Fdxr UTSW 11 115,160,403 (GRCm39) missense probably benign 0.00
R7460:Fdxr UTSW 11 115,167,680 (GRCm39) missense probably benign
R7780:Fdxr UTSW 11 115,167,656 (GRCm39) missense probably benign 0.00
R8053:Fdxr UTSW 11 115,160,665 (GRCm39) missense probably benign 0.06
R8254:Fdxr UTSW 11 115,162,144 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15