Incidental Mutation 'IGL02938:Esr1'
ID364413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esr1
Ensembl Gene ENSMUSG00000019768
Gene Nameestrogen receptor 1 (alpha)
SynonymsERalpha, ERa, ER[a], Estra, Nr3a1, ESR, ER-alpha, Estr
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.884) question?
Stock #IGL02938
Quality Score
Status
Chromosome10
Chromosomal Location4611593-5005614 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4783872 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 224 (M224K)
Ref Sequence ENSEMBL: ENSMUSP00000101213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067086] [ENSMUST00000105588] [ENSMUST00000105589] [ENSMUST00000105590]
Predicted Effect possibly damaging
Transcript: ENSMUST00000067086
AA Change: M224K

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000070070
Gene: ENSMUSG00000019768
AA Change: M224K

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 damaging
Transcript: ENSMUST00000105588
AA Change: M224K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101213
Gene: ENSMUSG00000019768
AA Change: M224K

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 possibly damaging
Transcript: ENSMUST00000105589
AA Change: M224K

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101214
Gene: ENSMUSG00000019768
AA Change: M224K

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: M224K

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101215
Gene: ENSMUSG00000019768
AA Change: M224K

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: ENSMUST00000127145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138828
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149195
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,362,229 T1152A possibly damaging Het
Adgra3 T C 5: 49,961,317 D963G probably benign Het
Adrm1 T A 2: 180,175,602 D287E probably damaging Het
Agxt A G 1: 93,145,109 D396G probably damaging Het
Ankle1 C T 8: 71,406,252 A43V probably damaging Het
Apc A G 18: 34,315,228 I1692V probably damaging Het
Arhgef18 T C 8: 3,450,802 V588A probably benign Het
Ccdc62 T A 5: 123,934,184 V4E probably benign Het
Cdh16 A T 8: 104,616,929 probably benign Het
Cr2 A T 1: 195,166,388 C276S probably damaging Het
Cyp2c29 T A 19: 39,287,123 D2E probably damaging Het
Ddx31 T A 2: 28,859,023 V277E possibly damaging Het
Defa35 C T 8: 21,065,914 probably benign Het
Dhx9 A T 1: 153,464,630 D707E probably benign Het
Dnmt1 A G 9: 20,941,373 S28P probably benign Het
Dock5 A T 14: 67,757,218 probably benign Het
Dpp6 T C 5: 27,723,367 probably benign Het
Egln1 A G 8: 124,914,015 probably null Het
Flt1 A G 5: 147,678,299 I279T possibly damaging Het
Fzd6 T C 15: 39,033,890 I478T probably benign Het
Glb1l3 A G 9: 26,826,759 V368A probably benign Het
Gltpd2 T C 11: 70,519,811 F5S probably damaging Het
Helz G A 11: 107,686,438 E1872K unknown Het
Irak3 A G 10: 120,182,524 probably null Het
Itsn2 A T 12: 4,697,216 I1206F probably damaging Het
Lingo3 A T 10: 80,835,154 V314E probably benign Het
Lrrc8a C T 2: 30,255,686 R171W probably damaging Het
Lsg1 T C 16: 30,571,206 T364A probably benign Het
Mks1 T C 11: 87,862,652 probably null Het
Mov10l1 T A 15: 88,988,526 F89Y probably damaging Het
Myo1b A C 1: 51,801,178 probably null Het
Myo1h T C 5: 114,358,939 Y819H probably damaging Het
Nedd1 G A 10: 92,689,657 Q597* probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1431 A G 19: 12,209,682 T39A probably benign Het
Pbrm1 T C 14: 31,067,804 S792P probably damaging Het
Pccb T C 9: 100,984,396 N457S probably benign Het
Plekho2 T C 9: 65,558,620 E162G possibly damaging Het
Pou1f1 A T 16: 65,523,544 T40S probably benign Het
Pwwp2b T C 7: 139,256,143 V500A probably damaging Het
Pygo1 C T 9: 72,944,738 A69V probably damaging Het
Slc18a3 A C 14: 32,463,815 Y204D probably damaging Het
Stab2 A G 10: 86,871,921 V261A possibly damaging Het
Tacc2 A T 7: 130,728,941 K208N probably damaging Het
Tbc1d4 T C 14: 101,501,100 D403G probably damaging Het
Tbc1d9 T A 8: 83,269,067 probably benign Het
Tdrkh T C 3: 94,429,350 probably benign Het
Tktl2 T A 8: 66,512,330 L180H probably damaging Het
Tm4sf19 T A 16: 32,405,915 L27Q probably damaging Het
Tmtc2 A G 10: 105,413,296 V192A probably damaging Het
Ttn C A 2: 76,712,984 M33219I probably damaging Het
Vmn1r52 A T 6: 90,179,313 M200L possibly damaging Het
Vmn2r114 T A 17: 23,291,289 H739L probably benign Het
Wdr20rt T C 12: 65,225,918 F52L probably benign Het
Zbtb38 C T 9: 96,687,174 G619D probably benign Het
Zfyve19 T C 2: 119,211,518 V156A probably benign Het
Other mutations in Esr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Esr1 APN 10 4997890 missense probably benign 0.00
IGL01886:Esr1 APN 10 4856861 missense probably damaging 0.98
IGL02174:Esr1 APN 10 4998003 missense probably damaging 1.00
IGL02625:Esr1 APN 10 5001346 missense probably benign 0.00
IGL03232:Esr1 APN 10 4969270 missense probably damaging 1.00
cybernetic UTSW 10 4783874 missense probably damaging 1.00
terminatrix UTSW 10 4746760 missense probably damaging 1.00
R0280:Esr1 UTSW 10 4856951 missense probably benign 0.05
R0280:Esr1 UTSW 10 4939289 missense probably damaging 0.99
R0479:Esr1 UTSW 10 4997911 missense probably damaging 1.00
R0943:Esr1 UTSW 10 4746781 missense probably damaging 1.00
R1437:Esr1 UTSW 10 4712571 small deletion probably benign
R1581:Esr1 UTSW 10 4997905 missense probably damaging 1.00
R1644:Esr1 UTSW 10 5001380 missense probably benign 0.00
R1647:Esr1 UTSW 10 5001260 missense possibly damaging 0.76
R1648:Esr1 UTSW 10 5001260 missense possibly damaging 0.76
R1791:Esr1 UTSW 10 4783913 missense probably damaging 1.00
R1955:Esr1 UTSW 10 4857125 missense probably damaging 1.00
R2870:Esr1 UTSW 10 4997890 missense probably damaging 0.98
R2870:Esr1 UTSW 10 4997890 missense probably damaging 0.98
R4323:Esr1 UTSW 10 5001307 missense possibly damaging 0.48
R4727:Esr1 UTSW 10 5001418 missense probably benign 0.00
R5009:Esr1 UTSW 10 4712394 missense probably damaging 1.00
R5578:Esr1 UTSW 10 4969164 missense probably damaging 1.00
R5610:Esr1 UTSW 10 5001221 missense probably damaging 1.00
R5836:Esr1 UTSW 10 4712817 missense probably benign 0.02
R5938:Esr1 UTSW 10 4966245 intron probably benign
R6030:Esr1 UTSW 10 4746622 missense possibly damaging 0.93
R6030:Esr1 UTSW 10 4746622 missense possibly damaging 0.93
R6173:Esr1 UTSW 10 4746760 missense probably damaging 1.00
R6575:Esr1 UTSW 10 4966301 intron probably benign
R6888:Esr1 UTSW 10 4857076 missense probably benign 0.00
R7271:Esr1 UTSW 10 4783874 missense probably damaging 1.00
R7310:Esr1 UTSW 10 4939259 missense probably damaging 1.00
R7552:Esr1 UTSW 10 4856903 missense probably damaging 1.00
X0011:Esr1 UTSW 10 4712571 small deletion probably benign
X0018:Esr1 UTSW 10 5001325 missense probably benign
Z1088:Esr1 UTSW 10 4712667 missense possibly damaging 0.49
Posted On2015-12-18