Incidental Mutation 'IGL01415:Esrra'
ID 80208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esrra
Ensembl Gene ENSMUSG00000024955
Gene Name estrogen related receptor, alpha
Synonyms ERRalpha, Err1, Nr3b1, Estrra
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01415
Quality Score
Status
Chromosome 19
Chromosomal Location 6888345-6899182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6890100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Cysteine at position 98 (W98C)
Ref Sequence ENSEMBL: ENSMUSP00000134587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025904] [ENSMUST00000025906] [ENSMUST00000088257] [ENSMUST00000116551] [ENSMUST00000149261] [ENSMUST00000173635] [ENSMUST00000174786] [ENSMUST00000173091]
AlphaFold O08580
Predicted Effect probably benign
Transcript: ENSMUST00000025904
SMART Domains Protein: ENSMUSP00000025904
Gene: ENSMUSG00000024953

DomainStartEndE-ValueType
Pfam:Redoxin 53 206 1e-31 PFAM
Pfam:AhpC-TSA 54 189 8.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000025906
AA Change: W241C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955
AA Change: W241C

DomainStartEndE-ValueType
internal_repeat_1 5 21 6.74e-5 PROSPERO
low complexity region 52 67 N/A INTRINSIC
ZnF_C4 76 147 2.16e-40 SMART
low complexity region 169 187 N/A INTRINSIC
internal_repeat_1 202 218 6.74e-5 PROSPERO
HOLI 229 391 9.21e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088257
SMART Domains Protein: ENSMUSP00000085591
Gene: ENSMUSG00000038812

DomainStartEndE-ValueType
Pfam:Trm112p 2 112 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116551
SMART Domains Protein: ENSMUSP00000112250
Gene: ENSMUSG00000038812

DomainStartEndE-ValueType
Pfam:Trm112p 2 112 1.3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145300
Predicted Effect probably benign
Transcript: ENSMUST00000149261
SMART Domains Protein: ENSMUSP00000135084
Gene: ENSMUSG00000024953

DomainStartEndE-ValueType
Pfam:Redoxin 56 210 1.1e-31 PFAM
Pfam:AhpC-TSA 57 192 6.8e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173635
AA Change: W98C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955
AA Change: W98C

DomainStartEndE-ValueType
PDB:1LO1|A 1 21 6e-7 PDB
low complexity region 26 44 N/A INTRINSIC
Pfam:Hormone_recep 65 158 4.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172869
Predicted Effect probably benign
Transcript: ENSMUST00000174786
SMART Domains Protein: ENSMUSP00000134000
Gene: ENSMUSG00000038812

DomainStartEndE-ValueType
Pfam:Trm112p 2 101 5.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173091
SMART Domains Protein: ENSMUSP00000134521
Gene: ENSMUSG00000024953

DomainStartEndE-ValueType
Pfam:Redoxin 53 99 3.3e-11 PFAM
Pfam:AhpC-TSA 54 100 9.3e-8 PFAM
Pfam:Redoxin 97 163 1.8e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice for one mutation were viable but showed reduced weight gain associated with decreased peripheral fat deposition. Mutant mice were resistant to high-fat diet induced obesity. Another targeted mutation resulted in no significant abnormalities in homozygotes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd44 T C 1: 54,792,087 (GRCm39) H316R probably damaging Het
Arfgef2 G A 2: 166,709,275 (GRCm39) M1117I probably damaging Het
Cdc42bpg A G 19: 6,360,881 (GRCm39) D213G probably damaging Het
Cfap69 G A 5: 5,696,979 (GRCm39) P106S probably damaging Het
Chkb A T 15: 89,312,987 (GRCm39) L30H probably damaging Het
Cit A G 5: 116,079,962 (GRCm39) K758E possibly damaging Het
Clstn3 G A 6: 124,415,781 (GRCm39) Q634* probably null Het
Efcab15 T C 11: 103,091,754 (GRCm39) Q42R probably damaging Het
Ganab A G 19: 8,892,058 (GRCm39) probably benign Het
Gcnt3 G T 9: 69,941,739 (GRCm39) H276Q probably benign Het
Gm16506 A G 14: 43,961,630 (GRCm39) Y206H probably benign Het
Gvin3 C T 7: 106,202,258 (GRCm39) noncoding transcript Het
Hkdc1 T A 10: 62,229,638 (GRCm39) N680Y probably damaging Het
Ighe A C 12: 113,235,011 (GRCm39) L383R unknown Het
Lgals9 T G 11: 78,863,977 (GRCm39) D56A probably damaging Het
Marveld3 G A 8: 110,688,705 (GRCm39) T12I possibly damaging Het
Nab2 A T 10: 127,500,972 (GRCm39) L40Q probably damaging Het
Naip6 T C 13: 100,439,798 (GRCm39) E323G probably benign Het
Nubpl T A 12: 52,317,853 (GRCm39) V182E possibly damaging Het
Or2ag15 A G 7: 106,340,706 (GRCm39) V145A probably benign Het
Or4c11 T A 2: 88,695,864 (GRCm39) M305K probably benign Het
Or6b3 A G 1: 92,438,974 (GRCm39) Y259H probably damaging Het
Peg3 A G 7: 6,714,652 (GRCm39) I190T probably damaging Het
Plcl1 G A 1: 55,735,555 (GRCm39) V299M possibly damaging Het
Ppp4r1 G A 17: 66,120,522 (GRCm39) E219K probably damaging Het
Sh3d19 G A 3: 86,005,492 (GRCm39) A280T probably benign Het
Srebf2 A G 15: 82,061,663 (GRCm39) I370V probably benign Het
Tfb2m A G 1: 179,359,695 (GRCm39) probably benign Het
Ttll7 T G 3: 146,615,354 (GRCm39) S273A possibly damaging Het
Unc79 A G 12: 103,074,944 (GRCm39) N1401D probably damaging Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Zfand4 G A 6: 116,291,830 (GRCm39) R588Q probably benign Het
Other mutations in Esrra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02153:Esrra APN 19 6,891,190 (GRCm39) missense probably benign 0.38
IGL02396:Esrra APN 19 6,889,373 (GRCm39) missense probably benign
IGL02642:Esrra APN 19 6,890,218 (GRCm39) missense possibly damaging 0.85
R1463:Esrra UTSW 19 6,889,823 (GRCm39) missense probably benign
R1484:Esrra UTSW 19 6,890,197 (GRCm39) missense probably damaging 1.00
R1546:Esrra UTSW 19 6,897,665 (GRCm39) missense probably benign 0.07
R1848:Esrra UTSW 19 6,889,378 (GRCm39) missense probably benign 0.05
R2397:Esrra UTSW 19 6,897,544 (GRCm39) missense probably damaging 1.00
R4853:Esrra UTSW 19 6,897,440 (GRCm39) missense probably damaging 1.00
R5580:Esrra UTSW 19 6,897,755 (GRCm39) start codon destroyed probably null 0.01
R5587:Esrra UTSW 19 6,897,575 (GRCm39) missense probably benign
R6270:Esrra UTSW 19 6,891,488 (GRCm39) splice site probably null
R6612:Esrra UTSW 19 6,889,220 (GRCm39) missense probably benign 0.01
R6807:Esrra UTSW 19 6,889,142 (GRCm39) missense probably benign 0.14
R7288:Esrra UTSW 19 6,890,139 (GRCm39) nonsense probably null
R7599:Esrra UTSW 19 6,891,214 (GRCm39) missense possibly damaging 0.91
R9242:Esrra UTSW 19 6,889,863 (GRCm39) missense probably benign 0.05
Posted On 2013-11-05