Incidental Mutation 'R0280:Esr1'
ID 37468
Institutional Source Beutler Lab
Gene Symbol Esr1
Ensembl Gene ENSMUSG00000019768
Gene Name estrogen receptor 1 (alpha)
Synonyms ESR, ER[a], ERalpha, ER-alpha, ERa, Nr3a1, Estr, Estra
MMRRC Submission 038502-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R0280 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 4561989-4955633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4806951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 289 (D289G)
Ref Sequence ENSEMBL: ENSMUSP00000101213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067086] [ENSMUST00000105588] [ENSMUST00000105589] [ENSMUST00000105590]
AlphaFold P19785
Predicted Effect probably benign
Transcript: ENSMUST00000067086
AA Change: D289G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000070070
Gene: ENSMUSG00000019768
AA Change: D289G

DomainStartEndE-ValueType
Pfam:Oest_recep 42 185 8.1e-57 PFAM
ZnF_C4 186 257 1.93e-37 SMART
HOLI 352 522 1.23e-35 SMART
Blast:HOLI 523 554 4e-11 BLAST
Pfam:ESR1_C 556 599 1.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105588
AA Change: D289G

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000101213
Gene: ENSMUSG00000019768
AA Change: D289G

DomainStartEndE-ValueType
Pfam:Oest_recep 42 185 1.7e-57 PFAM
ZnF_C4 186 257 1.93e-37 SMART
HOLI 352 493 4.19e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105589
AA Change: D289G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101214
Gene: ENSMUSG00000019768
AA Change: D289G

DomainStartEndE-ValueType
Pfam:Oest_recep 42 185 2.3e-64 PFAM
ZnF_C4 186 257 1.93e-37 SMART
HOLI 352 522 1.23e-35 SMART
Blast:HOLI 523 554 4e-11 BLAST
Pfam:ESR1_C 556 599 1.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105590
AA Change: D289G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101215
Gene: ENSMUSG00000019768
AA Change: D289G

DomainStartEndE-ValueType
Pfam:Oest_recep 42 185 8.1e-57 PFAM
ZnF_C4 186 257 1.93e-37 SMART
HOLI 352 522 1.23e-35 SMART
Blast:HOLI 523 554 4e-11 BLAST
Pfam:ESR1_C 556 599 1.1e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149195
Meta Mutation Damage Score 0.0847 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 96% (55/57)
MGI Phenotype FUNCTION: This gene encodes an estrogen receptor, a member of the nuclear hormone family of intracellular receptors. The encoded protein, activated by the sex hormone estrogen, is a transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Similar genes in human have been implicated in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for targeted null mutations have reduced skeletal growth and are infertile. Females exhibit hypoplastic uteri and nonovulatory ovaries, while males produce few sperm of low motility and fertilizing capacity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam18 C T 8: 25,164,070 (GRCm39) G38R probably benign Het
Ankrd16 T G 2: 11,786,312 (GRCm39) V187G probably damaging Het
Ccdc110 A T 8: 46,396,487 (GRCm39) N793Y probably benign Het
Ccdc170 T C 10: 4,508,663 (GRCm39) I629T possibly damaging Het
Clcn6 A G 4: 148,093,172 (GRCm39) L836P probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crocc T C 4: 140,755,737 (GRCm39) E1097G probably damaging Het
Csmd1 A T 8: 16,321,616 (GRCm39) V494E probably damaging Het
Drg1 A T 11: 3,206,537 (GRCm39) probably null Het
Dscam T C 16: 96,840,206 (GRCm39) K134E possibly damaging Het
Dyrk1b T C 7: 27,883,737 (GRCm39) Y198H probably damaging Het
Evi5l T C 8: 4,243,133 (GRCm39) V339A probably damaging Het
Fat4 A T 3: 38,944,965 (GRCm39) Q1286L probably benign Het
Fcsk A T 8: 111,621,380 (GRCm39) V188D probably damaging Het
Frem1 T C 4: 82,887,681 (GRCm39) H1118R probably damaging Het
Fut9 C T 4: 25,619,852 (GRCm39) D321N probably benign Het
Gaa T G 11: 119,175,373 (GRCm39) V917G probably damaging Het
Gm973 GCC GC 1: 59,583,839 (GRCm39) probably null Het
Kidins220 A G 12: 25,060,140 (GRCm39) T767A probably damaging Het
Kif7 A G 7: 79,348,571 (GRCm39) S1257P probably benign Het
Ltn1 A G 16: 87,194,726 (GRCm39) L1391P probably damaging Het
Mast3 A G 8: 71,236,439 (GRCm39) Y681H probably damaging Het
Mast3 A G 8: 71,240,564 (GRCm39) V291A possibly damaging Het
Metrn C T 17: 26,014,109 (GRCm39) R239H probably benign Het
Mphosph10 C A 7: 64,026,451 (GRCm39) K666N possibly damaging Het
Mtbp C T 15: 55,449,857 (GRCm39) T433I probably benign Het
Mtmr2 A G 9: 13,710,545 (GRCm39) K365E probably damaging Het
Nanog A G 6: 122,690,357 (GRCm39) D229G probably damaging Het
Nkapd1 T C 9: 50,520,679 (GRCm39) T123A probably damaging Het
Npepps T C 11: 97,131,840 (GRCm39) N338S possibly damaging Het
Nphp4 T A 4: 152,636,393 (GRCm39) probably benign Het
Odad4 A T 11: 100,441,091 (GRCm39) K107N probably damaging Het
Or4g16 T C 2: 111,137,417 (GRCm39) F289S possibly damaging Het
Plcl2 A G 17: 50,914,062 (GRCm39) E357G probably damaging Het
Polb A T 8: 23,130,408 (GRCm39) Y173N probably damaging Het
R3hdm1 T A 1: 128,090,512 (GRCm39) S74T probably benign Het
Raet1d T A 10: 22,246,782 (GRCm39) C37S probably damaging Het
Reln G A 5: 22,432,511 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,541,197 (GRCm39) S369G probably damaging Het
Sgf29 A G 7: 126,270,743 (GRCm39) E108G probably benign Het
Sh3tc1 A G 5: 35,863,361 (GRCm39) L942P probably damaging Het
Slc22a27 A T 19: 7,874,187 (GRCm39) L188* probably null Het
Slc9a3 T A 13: 74,307,543 (GRCm39) I445N probably damaging Het
Sufu A T 19: 46,439,112 (GRCm39) probably benign Het
Tomm40 G A 7: 19,447,676 (GRCm39) T118I probably damaging Het
Ttn C T 2: 76,570,823 (GRCm39) R26690H probably damaging Het
Vmn2r16 A G 5: 109,488,005 (GRCm39) I293V possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Vsig8 A G 1: 172,389,105 (GRCm39) D119G probably benign Het
Other mutations in Esr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Esr1 APN 10 4,997,890 (GRCm38) missense probably benign 0.00
IGL01886:Esr1 APN 10 4,806,861 (GRCm39) missense probably damaging 0.98
IGL02174:Esr1 APN 10 4,948,003 (GRCm39) missense probably damaging 1.00
IGL02625:Esr1 APN 10 4,951,346 (GRCm39) missense probably benign 0.00
IGL02938:Esr1 APN 10 4,733,872 (GRCm39) missense probably damaging 1.00
IGL03232:Esr1 APN 10 4,919,270 (GRCm39) missense probably damaging 1.00
bertha UTSW 10 4,696,763 (GRCm39) nonsense probably null
cybernetic UTSW 10 4,733,874 (GRCm39) missense probably damaging 1.00
terminatrix UTSW 10 4,696,760 (GRCm39) missense probably damaging 1.00
R0280:Esr1 UTSW 10 4,889,289 (GRCm39) missense probably damaging 0.99
R0479:Esr1 UTSW 10 4,947,911 (GRCm39) missense probably damaging 1.00
R0943:Esr1 UTSW 10 4,696,781 (GRCm39) missense probably damaging 1.00
R1437:Esr1 UTSW 10 4,662,571 (GRCm39) small deletion probably benign
R1581:Esr1 UTSW 10 4,947,905 (GRCm39) missense probably damaging 1.00
R1644:Esr1 UTSW 10 4,951,380 (GRCm39) missense probably benign 0.00
R1647:Esr1 UTSW 10 4,951,260 (GRCm39) missense possibly damaging 0.76
R1648:Esr1 UTSW 10 4,951,260 (GRCm39) missense possibly damaging 0.76
R1791:Esr1 UTSW 10 4,733,913 (GRCm39) missense probably damaging 1.00
R1955:Esr1 UTSW 10 4,807,125 (GRCm39) missense probably damaging 1.00
R2870:Esr1 UTSW 10 4,947,890 (GRCm39) missense probably damaging 0.98
R2870:Esr1 UTSW 10 4,947,890 (GRCm39) missense probably damaging 0.98
R4323:Esr1 UTSW 10 4,951,307 (GRCm39) missense possibly damaging 0.48
R4727:Esr1 UTSW 10 4,951,418 (GRCm39) missense probably benign 0.00
R5009:Esr1 UTSW 10 4,662,394 (GRCm39) missense probably damaging 1.00
R5578:Esr1 UTSW 10 4,919,164 (GRCm39) missense probably damaging 1.00
R5610:Esr1 UTSW 10 4,951,221 (GRCm39) missense probably damaging 1.00
R5836:Esr1 UTSW 10 4,662,817 (GRCm39) missense probably benign 0.02
R5938:Esr1 UTSW 10 4,916,245 (GRCm39) intron probably benign
R6030:Esr1 UTSW 10 4,696,622 (GRCm39) missense possibly damaging 0.93
R6030:Esr1 UTSW 10 4,696,622 (GRCm39) missense possibly damaging 0.93
R6173:Esr1 UTSW 10 4,696,760 (GRCm39) missense probably damaging 1.00
R6575:Esr1 UTSW 10 4,916,301 (GRCm39) intron probably benign
R6888:Esr1 UTSW 10 4,807,076 (GRCm39) missense probably benign 0.00
R7271:Esr1 UTSW 10 4,733,874 (GRCm39) missense probably damaging 1.00
R7310:Esr1 UTSW 10 4,889,259 (GRCm39) missense probably damaging 1.00
R7552:Esr1 UTSW 10 4,806,903 (GRCm39) missense probably damaging 1.00
R8218:Esr1 UTSW 10 4,696,808 (GRCm39) critical splice donor site probably null
R8553:Esr1 UTSW 10 4,947,847 (GRCm39) missense probably damaging 1.00
R8801:Esr1 UTSW 10 4,916,270 (GRCm39) missense unknown
R8904:Esr1 UTSW 10 4,696,654 (GRCm39) missense possibly damaging 0.95
R8924:Esr1 UTSW 10 4,807,176 (GRCm39) nonsense probably null
R9261:Esr1 UTSW 10 4,919,271 (GRCm39) missense probably damaging 0.97
R9314:Esr1 UTSW 10 4,916,181 (GRCm39) missense possibly damaging 0.84
R9339:Esr1 UTSW 10 4,696,798 (GRCm39) missense probably damaging 0.99
R9351:Esr1 UTSW 10 4,696,763 (GRCm39) nonsense probably null
R9388:Esr1 UTSW 10 4,919,179 (GRCm39) missense probably benign 0.05
R9722:Esr1 UTSW 10 4,951,215 (GRCm39) missense probably benign 0.00
X0011:Esr1 UTSW 10 4,662,571 (GRCm39) small deletion probably benign
X0018:Esr1 UTSW 10 4,951,325 (GRCm39) missense probably benign
Z1088:Esr1 UTSW 10 4,662,667 (GRCm39) missense possibly damaging 0.49
Predicted Primers PCR Primer
(F):5'- AAGTGCCACAAATCAATGCTGTTCC -3'
(R):5'- AGGCTTCACTGAAGGGTCTAGAAGG -3'

Sequencing Primer
(F):5'- GCGCTATTATCTTGGAAGACAG -3'
(R):5'- CTGAAGGGTCTAGAAGGATCATATTC -3'
Posted On 2013-05-23