Mutagenetix > Incidental Mutation

Incidental Mutation 'R6888:Esr1'

537061

Institutional Source

Beutler Lab

Gene Symbol

Esr1

Ensembl Gene

ENSMUSG00000019768

Gene Name

estrogen receptor 1 (alpha)

Synonyms

ERalpha, ERa, ER[a], Estra, Nr3a1, ESR, ER-alpha, Estr

MMRRC Submission

044982-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R6888 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4611593-5005614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4857076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 331 (I331V)

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: I331V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070070
Gene: ENSMUSG00000019768
AA Change: I331V

Domain	Start	End	E-Value	Type
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: I331V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101213
Gene: ENSMUSG00000019768
AA Change: I331V

Domain	Start	End	E-Value	Type
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: I331V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101214
Gene: ENSMUSG00000019768
AA Change: I331V

Domain	Start	End	E-Value	Type
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: I331V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101215
Gene: ENSMUSG00000019768
AA Change: I331V

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	G	2: 91,421,894	Y41H	probably damaging	Het
Actg1	T	C	11: 120,347,315	Y190C	probably damaging	Het
Adgrv1	A	G	13: 81,508,669	I2902T	probably damaging	Het
AI429214	G	A	8: 36,993,833	G45D	possibly damaging	Het
Ambra1	A	G	2: 91,769,027	D164G	probably damaging	Het
Ap3b1	A	T	13: 94,408,791	Q184L	probably benign	Het
Arhgef17	T	C	7: 100,930,820	D307G	possibly damaging	Het
AY761185	A	T	8: 20,944,555	Y52*	probably null	Het
Bfsp1	A	G	2: 143,826,719	S647P	probably benign	Het
C130073F10Rik	A	G	4: 101,890,256	V192A	probably benign	Het
Cacna1g	T	A	11: 94,459,207	D604V	probably benign	Het
Ccdc170	T	C	10: 4,546,854	V458A	possibly damaging	Het
Ccdc187	G	A	2: 26,289,734	R238W	probably damaging	Het
Cdh1	A	G	8: 106,658,314	S380G	probably benign	Het
Cdk5rap3	T	C	11: 96,916,192	H4R	probably benign	Het
Cftr	G	A	6: 18,313,730		probably null	Het
Dnajc16	A	G	4: 141,776,992	V219A	probably benign	Het
Drd3	A	T	16: 43,817,139	I266F	probably benign	Het
Dut	A	G	2: 125,257,124	D177G	probably benign	Het
Fam129c	G	T	8: 71,603,739	R361L	probably benign	Het
Gm11110	A	G	17: 57,102,143		probably benign	Het
Grm7	G	T	6: 111,358,353	G575V	possibly damaging	Het
Heatr3	A	G	8: 88,170,884	Y531C	probably damaging	Het
Igfn1	A	G	1: 135,982,480	V122A	probably benign	Het
Igsf21	T	C	4: 140,034,743	D208G	probably benign	Het
Kntc1	T	C	5: 123,811,310	Y1915H	probably damaging	Het
Lamc1	A	T	1: 153,262,492	D205E	probably damaging	Het
Limch1	C	T	5: 67,021,926	T713I	probably benign	Het
Lrp1b	A	G	2: 41,471,126	I555T	probably benign	Het
Lrp2	A	T	2: 69,524,141	F448I	probably damaging	Het
March6	T	C	15: 31,459,233	K896E	probably benign	Het
Mpp6	T	G	6: 50,180,277		probably null	Het
Mroh4	T	C	15: 74,613,249	Y469C	possibly damaging	Het
Nos3	T	C	5: 24,383,335	V1060A	possibly damaging	Het
Nr1h4	A	G	10: 89,456,542	I406T	probably damaging	Het
Odf2l	T	C	3: 145,148,618		probably null	Het
Olfr1162	A	G	2: 88,050,264	M120T	probably damaging	Het
Olfr1387	A	T	11: 49,460,260	T194S	probably damaging	Het
Pbx2	A	G	17: 34,594,107	Y119C	possibly damaging	Het
Pdcd6ip	C	A	9: 113,671,837	A526S	probably benign	Het
Prx	G	A	7: 27,519,634	D1187N	possibly damaging	Het
Ptpro	G	A	6: 137,380,200	V230I	probably benign	Het
Rtn3	C	T	19: 7,457,249	M440I	probably benign	Het
Sar1b	T	C	11: 51,788,192	I96T	probably damaging	Het
Sds	T	C	5: 120,480,900		probably null	Het
Secisbp2	A	G	13: 51,679,941	T706A	probably benign	Het
Sorcs3	A	T	19: 48,693,824	M433L	possibly damaging	Het
Sppl2a	A	G	2: 126,904,992	V472A	probably damaging	Het
Tbc1d9	A	G	8: 83,271,588	E1258G	possibly damaging	Het
Tbxas1	C	A	6: 38,952,074		probably benign	Het
Tg	T	C	15: 66,696,246	I1333T	probably damaging	Het
Tmem108	C	T	9: 103,499,716	G178D	probably damaging	Het
Tmem174	A	G	13: 98,637,061	L87P	probably damaging	Het
Tmppe	T	A	9: 114,404,701	S23T	probably damaging	Het
Ttn	G	A	2: 76,761,103	T21074I	probably benign	Het
Tub	A	G	7: 109,029,298	M338V	probably null	Het
Vmn1r160	A	T	7: 22,872,106	R295*	probably null	Het
Vps52	T	C	17: 33,963,206	V518A	probably benign	Het
Wdr59	A	G	8: 111,451,043	V909A	probably benign	Het
Wnk1	T	C	6: 119,948,781	T1241A	probably benign	Het
Zfp882	G	A	8: 71,914,286	C319Y	probably benign	Het
Znfx1	A	T	2: 167,038,940	I308N	possibly damaging	Het

Other mutations in Esr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02938:Esr1	APN	10	4783872	missense	probably damaging	1.00
IGL03232:Esr1	APN	10	4969270	missense	probably damaging	1.00
bertha	UTSW	10	4746763	nonsense	probably null
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
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
R8218:Esr1	UTSW	10	4746808	critical splice donor site	probably null
R8553:Esr1	UTSW	10	4997847	missense	probably damaging	1.00
R8801:Esr1	UTSW	10	4966270	missense	unknown
R8904:Esr1	UTSW	10	4746654	missense	possibly damaging	0.95
R8924:Esr1	UTSW	10	4857176	nonsense	probably null
R9261:Esr1	UTSW	10	4969271	missense	probably damaging	0.97
R9314:Esr1	UTSW	10	4966181	missense	possibly damaging	0.84
R9339:Esr1	UTSW	10	4746798	missense	probably damaging	0.99
R9351:Esr1	UTSW	10	4746763	nonsense	probably null
R9388:Esr1	UTSW	10	4969179	missense	probably benign	0.05
R9722:Esr1	UTSW	10	5001215	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- TCTGCATTTTCAGGCATACGG -3'
(R):5'- CAGCTGACTGTTGAAAGTTATTCAC -3'

Sequencing Primer
(F):5'- TTTTCAGGCATACGGAAAGACC -3'
(R):5'- ATGAACCAGCTCCCTATC -3'

Posted On

2018-10-18