Incidental Mutation 'IGL03195:Fdxr'
ID412792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fdxr
Ensembl Gene ENSMUSG00000018861
Gene Nameferredoxin reductase
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.874) question?
Stock #IGL03195
Quality Score
Status
Chromosome11
Chromosomal Location115268024-115277050 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115276092 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 57 (Q57R)
Ref Sequence ENSEMBL: ENSMUSP00000021078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021078] [ENSMUST00000056153]
Predicted Effect probably benign
Transcript: ENSMUST00000021078
AA Change: Q57R

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021078
Gene: ENSMUSG00000018861
AA Change: Q57R

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: ENSMUST00000056153
SMART Domains Protein: ENSMUSP00000058783
Gene: ENSMUSG00000044788

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
Pfam:FA_desaturase 62 313 3.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155130
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,853,607 D1086G possibly damaging Het
Ahcyl2 T C 6: 29,906,769 probably benign Het
Ankrd42 T A 7: 92,591,858 Q431L probably benign Het
Arhgap12 A T 18: 6,031,766 F592I probably damaging Het
Arhgef28 A G 13: 97,951,563 probably null Het
Boc A G 16: 44,492,821 F560S probably damaging Het
Ccdc81 A T 7: 89,896,708 V96E probably benign Het
Cep162 C T 9: 87,225,786 S517N probably benign Het
Cntnap5a A G 1: 116,157,448 N372S probably benign Het
Dnah7a G A 1: 53,419,607 R3791C probably damaging Het
G3bp2 A G 5: 92,068,508 probably benign Het
Gm595 T A X: 48,872,948 Q296L possibly damaging Het
Hmcn1 G A 1: 150,802,909 T487I probably benign Het
Kpna7 A T 5: 144,997,037 I282N probably damaging Het
Lif A T 11: 4,269,201 Y160F probably damaging Het
Lrp1b A T 2: 41,471,122 D556E possibly damaging Het
Myom2 G T 8: 15,111,844 E954* probably null Het
Nr6a1 A T 2: 38,742,936 I171N probably damaging Het
Nup210 C A 6: 91,015,850 R1059L probably benign Het
Olfr1109 A T 2: 87,092,569 V276E probably damaging Het
Olfr225 G A 11: 59,613,803 V280M probably damaging Het
Olfr698 A G 7: 106,752,773 I205T probably benign Het
Olfr743 A G 14: 50,533,420 T3A probably benign Het
Olfr987 A T 2: 85,331,520 I126N probably damaging Het
Ostm1 T C 10: 42,698,217 V302A probably damaging Het
Oxct1 A G 15: 4,101,189 M388V possibly damaging Het
Ppp6r2 G A 15: 89,268,555 V300I possibly damaging Het
Prmt1 T C 7: 44,977,571 Y205C probably damaging Het
Slc45a4 A C 15: 73,584,423 V636G possibly damaging Het
Spata18 T A 5: 73,671,248 L270Q probably damaging Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Thsd7b G A 1: 129,628,909 C334Y probably damaging Het
Tmtc3 C T 10: 100,459,034 V406M probably benign Het
Trpc5 T A X: 144,382,728 M900L probably benign Het
Ttc9c T C 19: 8,815,980 K99E probably benign Het
Vmn1r73 A G 7: 11,757,080 E275G probably damaging Het
Other mutations in Fdxr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Fdxr APN 11 115269576 missense probably benign
IGL02524:Fdxr APN 11 115271260 critical splice donor site probably null
R0371:Fdxr UTSW 11 115276089 missense possibly damaging 0.66
R0749:Fdxr UTSW 11 115276845 missense probably benign
R1165:Fdxr UTSW 11 115271782 unclassified probably benign
R1819:Fdxr UTSW 11 115276104 missense probably damaging 0.96
R2201:Fdxr UTSW 11 115270382 missense probably benign 0.41
R2507:Fdxr UTSW 11 115271980 missense probably damaging 0.98
R2508:Fdxr UTSW 11 115271980 missense probably damaging 0.98
R3701:Fdxr UTSW 11 115269701 missense probably damaging 0.99
R5004:Fdxr UTSW 11 115269573 missense probably benign 0.05
R5333:Fdxr UTSW 11 115272258 missense probably benign 0.13
R5944:Fdxr UTSW 11 115269846 missense probably benign
R7124:Fdxr UTSW 11 115269577 missense probably benign 0.00
Posted On2016-08-02