Incidental Mutation 'IGL01921:Rfesd'
ID180112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfesd
Ensembl Gene ENSMUSG00000043190
Gene NameRieske (Fe-S) domain containing
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL01921
Quality Score
Status
Chromosome13
Chromosomal Location76001535-76018719 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76008266 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 7 (E7G)
Ref Sequence ENSEMBL: ENSMUSP00000136314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050997] [ENSMUST00000167271] [ENSMUST00000179078]
Predicted Effect probably benign
Transcript: ENSMUST00000050997
AA Change: E7G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000055763
Gene: ENSMUSG00000043190
AA Change: E7G

DomainStartEndE-ValueType
Pfam:Rieske_2 14 132 1.4e-14 PFAM
Pfam:Rieske 16 132 6.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167271
AA Change: E7G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000130366
Gene: ENSMUSG00000043190
AA Change: E7G

DomainStartEndE-ValueType
Pfam:Rieske_2 14 132 1.7e-14 PFAM
Pfam:Rieske 16 130 1.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179078
AA Change: E7G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000136314
Gene: ENSMUSG00000043190
AA Change: E7G

DomainStartEndE-ValueType
Pfam:Rieske_2 14 132 1.4e-14 PFAM
Pfam:Rieske 16 132 6.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224093
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Ccdc102a T C 8: 94,913,391 T92A probably damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dio3 A T 12: 110,279,355 T42S possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Egr2 T A 10: 67,540,378 probably null Het
Epc2 T A 2: 49,532,197 Y368N probably damaging Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm21976 T A 13: 98,305,321 Y45* probably null Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mat1a T C 14: 41,114,335 probably benign Het
Mkrn1 T C 6: 39,405,913 D99G possibly damaging Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
Prss21 T A 17: 23,872,440 M217K possibly damaging Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Ripk4 T C 16: 97,743,365 E694G possibly damaging Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Uri1 T A 7: 37,981,647 K111* probably null Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zfp583 T C 7: 6,325,570 T7A possibly damaging Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Rfesd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02985:Rfesd APN 13 76008212 missense probably damaging 1.00
R2033:Rfesd UTSW 13 76002872 unclassified probably null
R2168:Rfesd UTSW 13 76008125 missense probably damaging 1.00
R7393:Rfesd UTSW 13 76003030 missense probably benign 0.04
R7806:Rfesd UTSW 13 76008189 missense possibly damaging 0.56
Posted On2014-05-07