Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01886:Esr1'

179133

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Esr1

Ensembl Gene

ENSMUSG00000019768

Gene Name

estrogen receptor 1 (alpha)

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.926) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

4611593-5005614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4856861 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 259 (I259K)

Ref Sequence

ENSEMBL: ENSMUSP00000101213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067086] [ENSMUST00000105588] [ENSMUST00000105589] [ENSMUST00000105590]

AlphaFold

P19785

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067086
AA Change: I259K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070070
Gene: ENSMUSG00000019768
AA Change: I259K

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 damaging
Transcript: ENSMUST00000105588
AA Change: I259K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101213
Gene: ENSMUSG00000019768
AA Change: I259K

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

possibly damaging
Transcript: ENSMUST00000105589
AA Change: I259K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101214
Gene: ENSMUSG00000019768
AA Change: I259K

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

possibly damaging
Transcript: ENSMUST00000105590
AA Change: I259K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101215
Gene: ENSMUSG00000019768
AA Change: I259K

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,659,158	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,730,265	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613	N768K	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Clec7a	A	T	6: 129,463,177		probably benign	Het
Cyp3a13	G	A	5: 137,898,820	P411S	probably damaging	Het
Elavl2	A	G	4: 91,264,093	V129A	probably damaging	Het
Ercc6	T	A	14: 32,569,580	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262	K8I	probably damaging	Het
Filip1l	A	G	16: 57,571,250	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814	I891F	probably damaging	Het
Kat7	T	C	11: 95,306,133	T27A	probably benign	Het
Kdm1a	A	G	4: 136,561,016		probably null	Het
Kifc5b	T	C	17: 26,932,117	V663A	probably damaging	Het
Lama1	T	G	17: 67,807,797	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984	V279I	probably benign	Het
Mast3	A	T	8: 70,782,139	L774Q	possibly damaging	Het
Med27	C	A	2: 29,413,482	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,169,090		probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	T	C	2: 52,183,845		probably benign	Het
Nlrp1a	T	C	11: 71,123,501	T308A	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,509	Y99C	probably damaging	Het
Olfr926	G	T	9: 38,877,548	C124F	probably damaging	Het
Orc1	T	A	4: 108,603,957		probably null	Het
Pnkp	G	A	7: 44,862,207	A76T	probably damaging	Het
Polr3h	T	C	15: 81,917,390	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,304,447	M62K	unknown	Het
Prpf8	C	A	11: 75,495,744	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,342,042	N778K	probably damaging	Het
Riok3	T	A	18: 12,139,385	N204K	probably damaging	Het
Shank3	A	G	15: 89,531,663	K650E	probably damaging	Het
Sim1	T	A	10: 50,984,315	S758T	probably damaging	Het
Slu7	T	G	11: 43,439,260	N171K	probably damaging	Het
Sult6b2	A	G	6: 142,790,126		probably null	Het
Taf6l	C	T	19: 8,778,086		probably null	Het
Ubtfl1	G	A	9: 18,409,721	V182M	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Esr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Esr1	APN	10	4997890	missense	probably benign	0.00
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
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
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
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 On

2014-05-07