Incidental Mutation 'R1648:Esr1'
ID 174037
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 039684-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R1648 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 4561989-4955633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4951260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 546 (E546G)
Ref Sequence ENSEMBL: ENSMUSP00000101215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067086] [ENSMUST00000105589] [ENSMUST00000105590]
AlphaFold P19785
Predicted Effect possibly damaging
Transcript: ENSMUST00000067086
AA Change: E546G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070070
Gene: ENSMUSG00000019768
AA Change: E546G

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 possibly damaging
Transcript: ENSMUST00000105589
AA Change: E546G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101214
Gene: ENSMUSG00000019768
AA Change: E546G

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 possibly damaging
Transcript: ENSMUST00000105590
AA Change: E546G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101215
Gene: ENSMUSG00000019768
AA Change: E546G

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: ENSMUST00000127934
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137012
Meta Mutation Damage Score 0.9130 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,181 (GRCm39) N1457D probably benign Het
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Akap6 A T 12: 53,188,789 (GRCm39) K2068* probably null Het
Alms1 T C 6: 85,655,384 (GRCm39) L3310P probably damaging Het
Ankrd27 T A 7: 35,303,278 (GRCm39) D219E probably benign Het
Atp10a T C 7: 58,434,575 (GRCm39) V283A probably damaging Het
Atp11a C T 8: 12,897,495 (GRCm39) S270L probably damaging Het
Casp3 T C 8: 47,091,109 (GRCm39) S254P probably benign Het
Cep104 G A 4: 154,063,553 (GRCm39) probably null Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Cfap58 A G 19: 47,943,844 (GRCm39) E348G probably benign Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Cyp2a22 T C 7: 26,631,793 (GRCm39) S488G probably damaging Het
D130040H23Rik C A 8: 69,755,633 (GRCm39) H363Q probably benign Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Ddx20 T C 3: 105,586,504 (GRCm39) I614V probably benign Het
Ehbp1 G A 11: 22,046,000 (GRCm39) T558I probably damaging Het
Eif2ak3 T A 6: 70,860,615 (GRCm39) V397D possibly damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gemin5 A T 11: 58,038,805 (GRCm39) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Kif17 A G 4: 137,997,206 (GRCm39) Y43C probably damaging Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt7 A C 15: 101,310,448 (GRCm39) S32R probably damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Luzp2 T A 7: 54,914,018 (GRCm39) probably null Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Myo1h G T 5: 114,474,336 (GRCm39) L458F probably damaging Het
Neto1 A T 18: 86,518,179 (GRCm39) Y528F probably damaging Het
Nlrp9b T A 7: 19,760,469 (GRCm39) C187S possibly damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Odc1 T C 12: 17,598,538 (GRCm39) probably benign Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Plcxd3 A T 15: 4,405,291 (GRCm39) I33F probably benign Het
Postn A G 3: 54,283,522 (GRCm39) T534A probably damaging Het
Prkd2 T A 7: 16,591,732 (GRCm39) F588I possibly damaging Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Rinl C T 7: 28,497,057 (GRCm39) A519V probably damaging Het
Rpgrip1l A C 8: 91,979,517 (GRCm39) V975G probably damaging Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Rtkn T C 6: 83,112,975 (GRCm39) S16P probably damaging Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdf4 G A 4: 156,083,886 (GRCm39) A119T probably damaging Het
Sgpp1 T A 12: 75,762,990 (GRCm39) H397L possibly damaging Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Smcp A T 3: 92,491,788 (GRCm39) C20S unknown Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tmem132c T A 5: 127,540,120 (GRCm39) probably benign Het
Tmem170b A T 13: 41,759,738 (GRCm39) Q16L probably null Het
Tmem30a A G 9: 79,700,311 (GRCm39) F61S probably damaging Het
Tnfsf13b T C 8: 10,081,534 (GRCm39) M232T probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Tusc3 C A 8: 39,513,721 (GRCm39) S64* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp607a T C 7: 27,578,493 (GRCm39) V521A probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R probably damaging 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
R0280:Esr1 UTSW 10 4,806,951 (GRCm39) missense probably benign 0.05
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
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'- CCAAGTGCCTTTGGAGTTGCTCATC -3'
(R):5'- GGCCACTCATACTAGAAAGCCACTG -3'

Sequencing Primer
(F):5'- TGGAGTTGCTCATCCTCCC -3'
(R):5'- TTGCAGGGATTCTCAGAACC -3'
Posted On 2014-04-24