Mutagenetix > Incidental Mutations

Incidental Mutation 'R1955:Esr1'

217691

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

039969-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R1955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4611593-5005614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4857125 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 347 (M347K)

Ref Sequence

ENSEMBL: ENSMUSP00000101215 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000067086
AA Change: M347K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070070
Gene: ENSMUSG00000019768
AA Change: M347K

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: M347K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101213
Gene: ENSMUSG00000019768
AA Change: M347K

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 damaging
Transcript: ENSMUST00000105589
AA Change: M347K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101214
Gene: ENSMUSG00000019768
AA Change: M347K

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 damaging
Transcript: ENSMUST00000105590
AA Change: M347K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101215
Gene: ENSMUSG00000019768
AA Change: M347K

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

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	A	1: 53,163,241	K128N	probably benign	Het
4930430F08Rik	A	G	10: 100,577,304	V91A	probably damaging	Het
Acadm	A	C	3: 153,929,551	F309V	probably damaging	Het
Adam6b	C	A	12: 113,491,816	A751E	probably benign	Het
Adcy9	A	G	16: 4,418,659	I296T	possibly damaging	Het
Arhgap45	A	G	10: 80,026,492	E471G	probably benign	Het
Atcay	T	C	10: 81,214,793	D96G	possibly damaging	Het
B3galt4	T	A	17: 33,950,632	R211*	probably null	Het
Bpi	T	C	2: 158,274,715	I344T	probably damaging	Het
Btnl4	T	C	17: 34,472,930	K233E	possibly damaging	Het
Cars2	A	T	8: 11,550,286	Y68N	probably damaging	Het
Cd207	T	A	6: 83,671,775	R302W	probably benign	Het
Cdc5l	T	C	17: 45,426,516		probably null	Het
Chaf1a	C	T	17: 56,047,540	T270I	unknown	Het
Col4a1	C	T	8: 11,208,228		probably null	Het
Col7a1	G	T	9: 108,955,664	V187L	unknown	Het
Cry1	G	A	10: 85,144,178	T422I	probably benign	Het
Csgalnact1	C	T	8: 68,372,667	V392I	probably benign	Het
Cyp2c38	A	G	19: 39,404,687	L312P	probably damaging	Het
Ddx20	G	A	3: 105,679,562	T489M	possibly damaging	Het
Decr1	A	T	4: 15,924,256	N221K	probably benign	Het
Dennd4a	A	T	9: 64,852,467	T285S	probably benign	Het
Dgka	A	G	10: 128,730,189		probably null	Het
Dmd	A	T	X: 83,878,557	M1478L	probably benign	Het
Dvl1	G	A	4: 155,858,029	R584Q	possibly damaging	Het
Dync1li1	A	T	9: 114,721,746	S450C	probably damaging	Het
Ehbp1l1	A	G	19: 5,710,669	V1558A	possibly damaging	Het
F2	T	A	2: 91,633,095	H148L	probably benign	Het
Fezf2	T	C	14: 12,342,644	N407S	probably benign	Het
Fscn3	T	A	6: 28,430,236	M135K	possibly damaging	Het
Ganab	T	G	19: 8,911,616	Y560*	probably null	Het
Garem2	T	C	5: 30,108,270	V44A	probably benign	Het
Gja4	A	G	4: 127,312,449	W174R	probably damaging	Het
Gja5	A	T	3: 97,051,641	H338L	probably benign	Het
Gm43517	A	G	12: 49,389,889		probably benign	Het
Gm5434	A	G	12: 36,090,596		probably benign	Het
Iqch	A	T	9: 63,548,016	D166E	probably benign	Het
Kifc5b	T	A	17: 26,926,297		probably null	Het
Kmt2b	A	T	7: 30,575,351	M1976K	possibly damaging	Het
Leng1	A	T	7: 3,665,416	V11D	probably damaging	Het
Lrit3	A	G	3: 129,800,481	V149A	probably benign	Het
Lrpap1	A	G	5: 35,102,412	L114P	probably damaging	Het
Marveld3	T	A	8: 109,959,748	D162V	probably benign	Het
Mon2	A	T	10: 123,038,483	I320N	probably damaging	Het
Morc2b	T	C	17: 33,137,490	Y436C	probably damaging	Het
Myo7a	A	T	7: 98,054,921	V1928D	probably damaging	Het
Ncoa6	A	G	2: 155,406,821	V1521A	possibly damaging	Het
Nexmif	A	G	X: 104,083,953	S1453P	possibly damaging	Het
Nudt16l1	A	G	16: 4,940,325	M182V	probably benign	Het
Obp2b	A	T	2: 25,738,551	I106L	probably benign	Het
Olfr1129	T	A	2: 87,576,005	L307Q	probably damaging	Het
Olfr1239	T	A	2: 89,418,411	M1L	probably damaging	Het
Olfr186	T	A	16: 59,027,411	R165S	probably damaging	Het
Olfr902	T	C	9: 38,449,688	I272T	probably benign	Het
Parl	T	A	16: 20,302,327	M1L	possibly damaging	Het
Pde7a	G	A	3: 19,227,799	A429V	probably damaging	Het
Pkd1l2	T	A	8: 117,043,361	M1119L	probably benign	Het
Plch1	C	T	3: 63,755,267	V272I	probably damaging	Het
Plekha4	G	A	7: 45,553,906	G740D	probably damaging	Het
Pnliprp1	A	G	19: 58,734,972	D265G	possibly damaging	Het
Pola1	A	C	X: 93,597,261	V384G	probably damaging	Het
Pon3	T	A	6: 5,230,774	D251V	probably benign	Het
Pot1b	A	G	17: 55,674,067	C316R	possibly damaging	Het
Prkaca	T	A	8: 83,988,317	V116E	probably damaging	Het
Prpf6	T	G	2: 181,632,077	M338R	probably benign	Het
Rasgef1c	A	G	11: 49,975,715	H382R	possibly damaging	Het
Rps25	C	T	9: 44,410,008	T113I	probably benign	Het
Serpinb1b	G	T	13: 33,085,439	A52S	probably benign	Het
Sh3yl1	A	G	12: 30,922,333	K34E	possibly damaging	Het
Siah2	C	T	3: 58,676,097	R256Q	probably damaging	Het
Slc24a2	A	G	4: 87,073,244	L404P	probably damaging	Het
Slc28a2	G	A	2: 122,447,866	C122Y	probably benign	Het
Slc4a8	T	C	15: 100,807,376	I821T	probably damaging	Het
Slc5a3	T	C	16: 92,077,874	V273A	possibly damaging	Het
Spag7	T	C	11: 70,665,018	Q61R	probably benign	Het
Syt7	A	T	19: 10,418,038	I71F	probably damaging	Het
Tars2	T	C	3: 95,747,454	N413S	probably damaging	Het
Tex14	T	A	11: 87,509,621	L413Q	probably damaging	Het
Tjp3	T	C	10: 81,277,999	E475G	probably damaging	Het
Tmem131l	A	G	3: 83,961,544	S175P	probably damaging	Het
Tmem144	C	T	3: 79,826,857	V180M	probably benign	Het
Tmem200c	A	T	17: 68,840,961	I180F	probably damaging	Het
Tmem232	G	T	17: 65,484,487	H129N	probably benign	Het
Tmprss11g	T	A	5: 86,498,532	I59F	probably damaging	Het
Tmprss2	T	A	16: 97,567,177		probably null	Het
Tor1aip2	T	A	1: 156,051,842		probably benign	Het
Trim61	T	C	8: 65,013,392	I406V	possibly damaging	Het
Trpv5	T	C	6: 41,657,937	D486G	probably damaging	Het
Try5	T	C	6: 41,311,769	E64G	probably benign	Het
Txlnb	A	G	10: 17,799,420	E107G	probably damaging	Het
Uckl1	T	C	2: 181,570,527	Q332R	probably benign	Het
Ugt2b1	T	C	5: 86,917,713	Y489C	probably damaging	Het
Ugt2b5	T	A	5: 87,127,772	M407L	probably benign	Het
Vmn1r191	A	T	13: 22,178,815	S256R	possibly damaging	Het
Vps13b	T	G	15: 35,925,408		probably null	Het
Vps13d	A	G	4: 145,156,143	F960S	probably damaging	Het
Xab2	T	A	8: 3,616,094	D227V	probably damaging	Het
Xaf1	A	T	11: 72,306,606	D136V	possibly damaging	Het
Zan	A	G	5: 137,389,283	S4889P	unknown	Het
Zfp78	A	G	7: 6,378,559	T203A	probably benign	Het
Zfp821	T	C	8: 109,721,242	S72P	probably 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
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
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
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'- ATGAGGGCTGCCAACCTTTG -3'
(R):5'- ACGGGCCAAAATTAGCATGTC -3'

Sequencing Primer
(F):5'- GGCCAAGCCCTCTTGTGATTAAG -3'
(R):5'- TCCTAGTTTCAAGAGAAATACAGCGG -3'

Posted On

2014-08-01