Incidental Mutation 'IGL01921:Rfesd'
ID 180112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfesd
Ensembl Gene ENSMUSG00000043190
Gene Name Rieske (Fe-S) domain containing
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL01921
Quality Score
Status
Chromosome 13
Chromosomal Location 76149654-76166831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76156385 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8K2P6
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
Adam34l C A 8: 44,078,548 (GRCm39) V559L probably damaging Het
Agtpbp1 T C 13: 59,660,297 (GRCm39) T310A possibly damaging Het
Ccdc102a T C 8: 95,640,019 (GRCm39) T92A probably damaging Het
Ciao1 C T 2: 127,084,755 (GRCm39) V328I probably benign Het
Col12a1 T A 9: 79,557,299 (GRCm39) Q1943L possibly damaging Het
Diaph1 T C 18: 37,989,261 (GRCm39) D898G possibly damaging Het
Dio3 A T 12: 110,245,789 (GRCm39) T42S possibly damaging Het
Dnah8 T A 17: 30,955,115 (GRCm39) I2048N probably benign Het
Egr2 T A 10: 67,376,208 (GRCm39) probably null Het
Epc2 T A 2: 49,422,209 (GRCm39) Y368N probably damaging Het
Furin A G 7: 80,045,702 (GRCm39) probably benign Het
Gga1 T C 15: 78,777,995 (GRCm39) M620T possibly damaging Het
Gm21976 T A 13: 98,441,829 (GRCm39) Y45* probably null Het
Gpn1 T C 5: 31,656,612 (GRCm39) V105A probably damaging Het
Hoxb8 A T 11: 96,175,181 (GRCm39) N206I probably damaging Het
Kif15 T A 9: 122,808,569 (GRCm39) L67Q probably damaging Het
Krt40 T A 11: 99,433,989 (GRCm39) probably benign Het
Mat1a T C 14: 40,836,292 (GRCm39) probably benign Het
Mkrn1 T C 6: 39,382,847 (GRCm39) D99G possibly damaging Het
Plxnb2 T C 15: 89,048,474 (GRCm39) Y645C possibly damaging Het
Ppp1r13b A G 12: 111,799,671 (GRCm39) V702A probably benign Het
Ppp4r4 G T 12: 103,542,569 (GRCm39) M1I probably null Het
Prss21 T A 17: 24,091,414 (GRCm39) M217K possibly damaging Het
R3hcc1l A G 19: 42,552,220 (GRCm39) S406G possibly damaging Het
Ripk4 T C 16: 97,544,565 (GRCm39) E694G possibly damaging Het
Rlf T C 4: 121,003,943 (GRCm39) D1679G probably damaging Het
Ryr2 C T 13: 11,569,436 (GRCm39) C4956Y possibly damaging Het
Scart1 G T 7: 139,808,632 (GRCm39) E848* probably null Het
Uri1 T A 7: 37,681,072 (GRCm39) K111* probably null Het
Usf1 A G 1: 171,244,424 (GRCm39) E108G possibly damaging Het
Vmn1r71 C A 7: 10,482,199 (GRCm39) R163L probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r86 T C 10: 130,291,610 (GRCm39) T52A probably benign Het
Washc5 A T 15: 59,213,958 (GRCm39) probably null Het
Zfp583 T C 7: 6,328,569 (GRCm39) T7A possibly damaging Het
Zim1 T G 7: 6,685,184 (GRCm39) probably benign Het
Other mutations in Rfesd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02985:Rfesd APN 13 76,156,331 (GRCm39) missense probably damaging 1.00
R2033:Rfesd UTSW 13 76,150,991 (GRCm39) splice site probably null
R2168:Rfesd UTSW 13 76,156,244 (GRCm39) missense probably damaging 1.00
R7393:Rfesd UTSW 13 76,151,149 (GRCm39) missense probably benign 0.04
R7806:Rfesd UTSW 13 76,156,308 (GRCm39) missense possibly damaging 0.56
R9389:Rfesd UTSW 13 76,151,131 (GRCm39) missense probably damaging 1.00
R9578:Rfesd UTSW 13 76,156,299 (GRCm39) missense possibly damaging 0.78
Posted On 2014-05-07