Mutagenetix > Incidental Mutation

Incidental Mutation 'R0479:Esr1'

43291

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

038679-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R0479 (G1)

Quality Score

201

Status

Validated (trace)

Chromosome

Chromosomal Location

4561989-4955633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4947911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 488 (D488G)

Ref Sequence

ENSEMBL: ENSMUSP00000101215 (fasta)

Gene Model

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

AlphaFold

P19785

Predicted Effect

probably damaging
Transcript: ENSMUST00000067086
AA Change: D488G

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

SMART Domains

Protein: ENSMUSP00000070070
Gene: ENSMUSG00000019768
AA Change: D488G

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: ENSMUST00000105589
AA Change: D488G

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

SMART Domains

Protein: ENSMUSP00000101214
Gene: ENSMUSG00000019768
AA Change: D488G

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: D488G

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

SMART Domains

Protein: ENSMUSP00000101215
Gene: ENSMUSG00000019768
AA Change: D488G

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: ENSMUST00000127934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137012

Meta Mutation Damage Score

0.5547

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

98% (105/107)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,159,712 (GRCm39)	V269A	probably benign	Het
Acsl1	G	A	8: 46,984,109 (GRCm39)	G543R	probably damaging	Het
Adam18	T	C	8: 25,141,838 (GRCm39)	N244D	probably benign	Het
Adgra3	C	T	5: 50,147,607 (GRCm39)	V478M	probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Arhgef10	A	T	8: 15,041,070 (GRCm39)	E723V	probably damaging	Het
Arid3a	C	A	10: 79,787,128 (GRCm39)	N519K	possibly damaging	Het
Atrn	T	A	2: 130,841,085 (GRCm39)	Y1162*	probably null	Het
Cacng5	T	A	11: 107,768,777 (GRCm39)	N172Y	probably benign	Het
Cct8	C	T	16: 87,284,594 (GRCm39)	V198M	probably damaging	Het
Cep192	G	A	18: 67,991,089 (GRCm39)	S1857N	probably damaging	Het
Cherp	A	T	8: 73,216,991 (GRCm39)	D657E	possibly damaging	Het
Clca3a2	T	G	3: 144,796,610 (GRCm39)	D199A	probably damaging	Het
Cops7b	A	G	1: 86,532,798 (GRCm39)	T219A	probably benign	Het
Crb1	C	T	1: 139,126,352 (GRCm39)	M1392I	probably damaging	Het
Csf3r	A	C	4: 125,937,616 (GRCm39)	E833D	probably damaging	Het
Cutc	A	G	19: 43,756,655 (GRCm39)	E247G	probably damaging	Het
Cyp2c38	A	G	19: 39,451,449 (GRCm39)	L17P	probably damaging	Het
D5Ertd615e	T	A	5: 45,320,796 (GRCm39)		noncoding transcript	Het
Ddx60	G	T	8: 62,422,691 (GRCm39)	G643W	probably damaging	Het
Depdc1a	C	T	3: 159,226,497 (GRCm39)	T268I	probably damaging	Het
Dgke	T	C	11: 88,943,296 (GRCm39)	E231G	probably benign	Het
Dhrs7b	T	A	11: 60,746,513 (GRCm39)		probably benign	Het
Dll3	A	G	7: 28,000,974 (GRCm39)	V27A	probably damaging	Het
Dnmt3c	T	A	2: 153,556,861 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,176,861 (GRCm39)	F1461L	probably damaging	Het
Enpep	A	G	3: 129,106,323 (GRCm39)	V301A	possibly damaging	Het
Eny2	T	A	15: 44,299,000 (GRCm39)		probably null	Het
Ets1	A	G	9: 32,641,476 (GRCm39)	K110E	probably damaging	Het
Eya2	T	A	2: 165,557,876 (GRCm39)	Y157*	probably null	Het
F830045P16Rik	T	G	2: 129,314,608 (GRCm39)	D223A	possibly damaging	Het
Fbh1	A	G	2: 11,763,230 (GRCm39)	Y475H	probably damaging	Het
Fbxo39	T	C	11: 72,208,419 (GRCm39)	I257T	probably damaging	Het
Fkbp10	T	C	11: 100,306,740 (GRCm39)	V23A	probably damaging	Het
Foxp3	A	G	X: 7,453,583 (GRCm39)	I128V	possibly damaging	Het
Fzd7	T	C	1: 59,522,867 (GRCm39)	F250S	probably damaging	Het
Gaa	A	G	11: 119,172,062 (GRCm39)	T722A	possibly damaging	Het
Gemin5	A	G	11: 58,030,377 (GRCm39)	V816A	probably benign	Het
Glb1l3	T	A	9: 26,740,389 (GRCm39)	T314S	probably benign	Het
H2-Ab1	A	G	17: 34,483,942 (GRCm39)	E101G	possibly damaging	Het
Hydin	A	C	8: 111,325,720 (GRCm39)	T4710P	probably damaging	Het
Ica1	C	T	6: 8,754,627 (GRCm39)	V48M	probably damaging	Het
Ica1	T	C	6: 8,754,683 (GRCm39)	Y29C	probably damaging	Het
Ints7	T	A	1: 191,346,666 (GRCm39)		probably null	Het
Iqub	T	C	6: 24,505,809 (GRCm39)	E33G	probably benign	Het
Itgb1bp2	T	A	X: 100,492,806 (GRCm39)	C10S	probably damaging	Het
Katnip	T	C	7: 125,442,518 (GRCm39)	L809S	probably benign	Het
Kcnd1	T	A	X: 7,697,461 (GRCm39)	I391N	possibly damaging	Het
Kdm8	T	C	7: 125,051,812 (GRCm39)	L135P	probably damaging	Het
Ksr1	T	C	11: 78,916,109 (GRCm39)	D574G	probably damaging	Het
Lama5	C	T	2: 179,826,250 (GRCm39)	R2331H	probably benign	Het
Larp1	C	A	11: 57,933,646 (GRCm39)	N357K	possibly damaging	Het
Lgi3	C	T	14: 70,771,992 (GRCm39)		probably benign	Het
Lmbrd1	T	A	1: 24,785,878 (GRCm39)		probably benign	Het
Methig1	A	T	15: 100,272,825 (GRCm39)	K53*	probably null	Het
Mfap3	T	A	11: 57,420,469 (GRCm39)	I150N	probably damaging	Het
Mug1	A	T	6: 121,817,186 (GRCm39)	Q85L	probably benign	Het
Npl	A	G	1: 153,391,155 (GRCm39)	V200A	probably damaging	Het
Nuf2	A	T	1: 169,326,503 (GRCm39)		probably benign	Het
Obscn	A	G	11: 59,003,533 (GRCm39)	V1255A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5h18	C	T	16: 58,847,491 (GRCm39)	V260M	possibly damaging	Het
Or8b51	T	C	9: 38,569,478 (GRCm39)	D70G	probably damaging	Het
P2rx1	T	C	11: 72,903,787 (GRCm39)	V283A	probably damaging	Het
Pex2	C	A	3: 5,626,355 (GRCm39)	L151F	probably damaging	Het
Pias1	A	G	9: 62,800,400 (GRCm39)		probably benign	Het
Pmfbp1	A	T	8: 110,257,105 (GRCm39)		probably benign	Het
Pogz	A	G	3: 94,783,947 (GRCm39)	K545E	possibly damaging	Het
Ppp3cb	T	C	14: 20,553,309 (GRCm39)		probably null	Het
Prl	G	A	13: 27,248,911 (GRCm39)	D189N	probably damaging	Het
Prpf6	A	G	2: 181,292,920 (GRCm39)	N794S	probably benign	Het
Prr36	G	A	8: 4,263,930 (GRCm39)	Q579*	probably null	Het
Ptprq	A	T	10: 107,479,855 (GRCm39)	Y1138*	probably null	Het
Rabepk	A	T	2: 34,675,592 (GRCm39)	H179Q	probably damaging	Het
Rest	T	C	5: 77,430,598 (GRCm39)	S1006P	probably damaging	Het
Rimklb	A	C	6: 122,441,175 (GRCm39)		probably benign	Het
Rnpepl1	T	C	1: 92,846,587 (GRCm39)		probably benign	Het
Ro60	A	T	1: 143,633,489 (GRCm39)	D536E	possibly damaging	Het
Sacs	T	A	14: 61,428,928 (GRCm39)	L329Q	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Setd5	A	T	6: 113,091,994 (GRCm39)	I272F	probably damaging	Het
Sgk1	G	T	10: 21,872,209 (GRCm39)	A262S	probably benign	Het
Skint2	G	A	4: 112,481,238 (GRCm39)	V34I	possibly damaging	Het
Skint5	G	C	4: 113,512,869 (GRCm39)	Q888E	unknown	Het
Slc4a3	T	C	1: 75,528,472 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,047,519 (GRCm39)	E133G	probably damaging	Het
Spryd3	G	A	15: 102,038,835 (GRCm39)	R129*	probably null	Het
Stag1	T	A	9: 100,810,144 (GRCm39)	N782K	probably benign	Het
Stam	T	C	2: 14,122,306 (GRCm39)	L132P	probably damaging	Het
Stard9	T	A	2: 120,528,077 (GRCm39)	S1445T	probably damaging	Het
Syt5	C	T	7: 4,546,108 (GRCm39)	R94Q	probably benign	Het
Tbc1d23	A	T	16: 56,992,177 (GRCm39)	H594Q	probably damaging	Het
Tecta	T	A	9: 42,249,235 (GRCm39)	I1871F	probably damaging	Het
Tek	A	G	4: 94,692,549 (GRCm39)	D219G	probably benign	Het
Thrb	T	C	14: 18,033,643 (GRCm38)	F469L	probably damaging	Het
Tyr	T	C	7: 87,142,429 (GRCm39)	S44G	possibly damaging	Het
Usp20	T	A	2: 30,907,487 (GRCm39)	V673E	probably benign	Het
Usp28	T	C	9: 48,948,513 (GRCm39)	S873P	probably damaging	Het
Usp43	C	T	11: 67,788,100 (GRCm39)	V306M	possibly damaging	Het
Wdr17	G	T	8: 55,104,456 (GRCm39)		probably null	Het
Wsb2	T	G	5: 117,514,744 (GRCm39)		probably benign	Het
Xkrx	A	T	X: 133,051,715 (GRCm39)	L312Q	probably damaging	Het

Other mutations in Esr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R1648: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'- TGATCATGCCACCATTATGGCTGC -3'
(R):5'- TGCCCTGCTTTGGCTATCATACAG -3'

Sequencing Primer
(F):5'- TTAGACACAAGAGGCTATCCTG -3'
(R):5'- CTGCTTTGGCTATCATACAGAGTTG -3'

Posted On

2013-05-23