Incidental Mutation 'IGL03126:Esrrg'
ID410176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esrrg
Ensembl Gene ENSMUSG00000026610
Gene Nameestrogen-related receptor gamma
SynonymsERR3, estrogen-related receptor 3, NR3B3, Errg
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03126
Quality Score
Status
Chromosome1
Chromosomal Location187608791-188214885 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 187997987 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027906] [ENSMUST00000110938] [ENSMUST00000110939] [ENSMUST00000127489]
Predicted Effect probably benign
Transcript: ENSMUST00000027906
SMART Domains Protein: ENSMUSP00000027906
Gene: ENSMUSG00000026610

DomainStartEndE-ValueType
low complexity region 57 70 N/A INTRINSIC
ZnF_C4 125 196 4.04e-40 SMART
Blast:HOLI 203 233 5e-6 BLAST
HOLI 270 428 1.64e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110938
SMART Domains Protein: ENSMUSP00000106563
Gene: ENSMUSG00000026610

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
ZnF_C4 102 173 4.04e-40 SMART
Blast:HOLI 180 210 4e-6 BLAST
HOLI 247 405 1.64e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110939
SMART Domains Protein: ENSMUSP00000106564
Gene: ENSMUSG00000026610

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
ZnF_C4 102 173 4.04e-40 SMART
Blast:HOLI 180 210 4e-6 BLAST
HOLI 247 405 1.64e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127489
SMART Domains Protein: ENSMUSP00000119286
Gene: ENSMUSG00000026610

DomainStartEndE-ValueType
low complexity region 34 47 N/A INTRINSIC
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 member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]
PHENOTYPE: Nullizygous mutations lead to postnatal lethality. Homozygotes for a null allele show reduced birth weight, fasting hyperlactatemia, altered electrocardiograms and mitochondrial function, and agenesis of the renal papilla. Surviving homozygotes for a different null allele exhibit hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,481,027 N562S probably benign Het
4930402H24Rik A T 2: 130,791,995 probably null Het
Abi1 A G 2: 22,953,467 V316A probably benign Het
Acsm1 A T 7: 119,633,180 Q100L possibly damaging Het
Akr1c21 T C 13: 4,577,458 Y184H possibly damaging Het
Anks3 T C 16: 4,958,027 T104A probably damaging Het
Bcl2l2 A G 14: 54,884,767 Y129C probably damaging Het
Cenpf T A 1: 189,659,010 K875I probably damaging Het
Cntnap1 T C 11: 101,176,301 V15A probably benign Het
Elmo3 C A 8: 105,306,381 R66S probably damaging Het
Epn1 C A 7: 5,095,685 A370E probably benign Het
Fam129b C T 2: 32,876,386 R13W possibly damaging Het
Fgd5 T G 6: 92,065,164 L1034R probably damaging Het
Fpgs A G 2: 32,683,123 V567A possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Hist1h3c T C 13: 23,745,442 K19R possibly damaging Het
Hsd17b14 T C 7: 45,556,079 F38S possibly damaging Het
Ikbkap A G 4: 56,779,717 S565P probably benign Het
Larp1 T C 11: 58,050,877 V712A possibly damaging Het
Mep1b T C 18: 21,088,560 F189S probably damaging Het
Mill1 T C 7: 18,255,907 V38A probably benign Het
Npy4r T C 14: 34,146,333 I333V probably benign Het
Numa1 G T 7: 102,000,667 E1202* probably null Het
Olfr231 A G 1: 174,117,710 I102T probably benign Het
Olfr401 C T 11: 74,121,784 A165V probably benign Het
Oxr1 A T 15: 41,820,249 Q356L possibly damaging Het
Prdx2 T C 8: 84,971,569 F130L probably damaging Het
Rasa1 A T 13: 85,256,396 S248R possibly damaging Het
Rgs19 A G 2: 181,691,321 S49P probably benign Het
Rinl A G 7: 28,795,650 probably benign Het
Serpinb11 T C 1: 107,379,924 F362L probably damaging Het
Slamf8 T C 1: 172,584,169 H253R possibly damaging Het
Tet3 C A 6: 83,376,787 R829L probably damaging Het
Trappc8 A G 18: 20,863,595 L420P probably damaging Het
Ube2u A T 4: 100,550,002 *353Y probably null Het
Wbp1l A C 19: 46,644,399 D46A probably damaging Het
Zbtb21 A G 16: 97,951,745 V474A probably damaging Het
Other mutations in Esrrg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Esrrg APN 1 188210910 missense probably damaging 1.00
IGL01635:Esrrg APN 1 188198600 missense probably damaging 1.00
IGL01642:Esrrg APN 1 188210915 missense probably benign 0.01
IGL02740:Esrrg APN 1 188198741 missense probably benign 0.04
IGL03391:Esrrg APN 1 188150223 missense possibly damaging 0.70
R0395:Esrrg UTSW 1 188198635 missense probably damaging 1.00
R0645:Esrrg UTSW 1 188043341 missense probably benign 0.00
R1593:Esrrg UTSW 1 188066385 missense possibly damaging 0.94
R1700:Esrrg UTSW 1 188043653 missense probably damaging 1.00
R1855:Esrrg UTSW 1 188211098 missense probably damaging 1.00
R3552:Esrrg UTSW 1 188150190 missense probably benign 0.05
R3605:Esrrg UTSW 1 188211102 missense possibly damaging 0.74
R4384:Esrrg UTSW 1 188043711 missense probably damaging 1.00
R5255:Esrrg UTSW 1 188146358 missense probably damaging 1.00
R5443:Esrrg UTSW 1 188043425 missense possibly damaging 0.78
R5511:Esrrg UTSW 1 188211107 missense probably damaging 1.00
R5516:Esrrg UTSW 1 188198730 missense possibly damaging 0.56
R5543:Esrrg UTSW 1 188150254 missense probably damaging 0.96
R5686:Esrrg UTSW 1 188150198 missense probably benign 0.24
R5990:Esrrg UTSW 1 188198798 missense probably damaging 1.00
R6030:Esrrg UTSW 1 188198707 missense probably benign 0.04
R6030:Esrrg UTSW 1 188198707 missense probably benign 0.04
R7058:Esrrg UTSW 1 188150306 missense probably damaging 1.00
Z1088:Esrrg UTSW 1 188150218 missense probably benign 0.04
Posted On2016-08-02