Incidental Mutation 'IGL02985:Rfesd'
ID406697
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: 0.083) question?
Stock #IGL02985
Quality Score
Status
Chromosome13
Chromosomal Location76001535-76018719 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76008212 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 25 (D25G)
Ref Sequence ENSEMBL: ENSMUSP00000136314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050997] [ENSMUST00000167271] [ENSMUST00000179078]
Predicted Effect probably damaging
Transcript: ENSMUST00000050997
AA Change: D25G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055763
Gene: ENSMUSG00000043190
AA Change: D25G

DomainStartEndE-ValueType
Pfam:Rieske_2 14 132 1.4e-14 PFAM
Pfam:Rieske 16 132 6.1e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167271
AA Change: D25G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130366
Gene: ENSMUSG00000043190
AA Change: D25G

DomainStartEndE-ValueType
Pfam:Rieske_2 14 132 1.7e-14 PFAM
Pfam:Rieske 16 130 1.7e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179078
AA Change: D25G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136314
Gene: ENSMUSG00000043190
AA Change: D25G

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,958,757 L1862S probably damaging Het
Actc1 T C 2: 114,048,160 E318G probably damaging Het
Birc6 T C 17: 74,640,190 V2968A probably benign Het
Csgalnact1 A G 8: 68,461,043 V170A probably benign Het
Dph1 A G 11: 75,183,593 V131A possibly damaging Het
Galr1 A T 18: 82,393,730 M337K probably benign Het
Gm14214 G T 2: 154,769,454 T160N probably benign Het
Gpatch8 G T 11: 102,481,510 H401N unknown Het
Higd1a A G 9: 121,852,530 F20L probably benign Het
Hmcn1 A T 1: 150,671,917 I2761K probably damaging Het
Hspg2 T A 4: 137,507,803 Y83N probably damaging Het
Ilvbl C T 10: 78,579,067 P255S probably benign Het
Kpna2 T C 11: 106,989,337 Y495C probably benign Het
Krt36 G T 11: 100,103,179 Q327K probably benign Het
Lrrc34 T C 3: 30,636,295 M153V probably benign Het
Maats1 T A 16: 38,298,272 I722F probably damaging Het
Map9 A T 3: 82,359,902 R30* probably null Het
Mcf2l A G 8: 12,963,239 Y48C probably damaging Het
Mfsd13b T A 7: 121,000,172 I397K probably damaging Het
Mpp7 C A 18: 7,461,637 probably null Het
Mrgprx2 C T 7: 48,482,497 C191Y probably damaging Het
Olfr48 A T 2: 89,844,340 I211N possibly damaging Het
Pabpc4l A G 3: 46,446,582 V209A possibly damaging Het
Pde7a T A 3: 19,310,883 H40L probably damaging Het
Phactr3 T C 2: 178,175,457 V22A probably benign Het
Plcl2 G T 17: 50,687,814 E1104* probably null Het
Ppp2cb A G 8: 33,615,446 probably benign Het
Prl3c1 A T 13: 27,199,387 Y12F probably damaging Het
Prune2 T C 19: 17,016,359 probably null Het
Rxfp1 C A 3: 79,652,226 M429I possibly damaging Het
Tmf1 A G 6: 97,176,809 L101P probably damaging Het
Ube2d2b T C 5: 107,830,797 S105P probably damaging Het
Wdr92 G A 11: 17,229,845 G282E probably damaging Het
Zfp518a C T 19: 40,913,667 T680I possibly damaging Het
Other mutations in Rfesd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Rfesd APN 13 76008266 missense probably benign 0.03
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 On2016-08-02