Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Esr1'

567518

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

045409-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4561989-4955633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4889259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 386 (A386T)

Ref Sequence

ENSEMBL: ENSMUSP00000070070 (fasta)

Gene Model

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

AlphaFold

P19785

Predicted Effect

probably damaging
Transcript: ENSMUST00000067086
AA Change: A386T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000070070
Gene: ENSMUSG00000019768
AA Change: A386T

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: A386T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101213
Gene: ENSMUSG00000019768
AA Change: A386T

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: A386T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101214
Gene: ENSMUSG00000019768
AA Change: A386T

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: A386T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101215
Gene: ENSMUSG00000019768
AA Change: A386T

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: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,771,094 (GRCm39)	Q192L	possibly damaging	Het
Abat	G	A	16: 8,423,457 (GRCm39)	R250Q	probably null	Het
Abcg3	A	C	5: 105,114,632 (GRCm39)	F295C	probably benign	Het
Abl1	T	C	2: 31,690,604 (GRCm39)	S708P	possibly damaging	Het
Acap2	A	T	16: 30,926,972 (GRCm39)	Y489*	probably null	Het
Akr1c6	A	T	13: 4,486,354 (GRCm39)	M54L	probably benign	Het
Arhgap5	A	T	12: 52,589,270 (GRCm39)		probably null	Het
Asap1	A	G	15: 63,971,379 (GRCm39)		probably null	Het
Atrnl1	A	T	19: 57,630,856 (GRCm39)	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,795,485 (GRCm39)		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,795,460 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,451 (GRCm39)		probably benign	Het
Bmi1	T	C	2: 18,689,230 (GRCm39)	S305P	probably benign	Het
Bpifc	T	A	10: 85,798,891 (GRCm39)	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,993 (GRCm39)	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,519,914 (GRCm39)	D428V	probably damaging	Het
Card14	A	C	11: 119,217,005 (GRCm39)	Q363P	probably null	Het
Cdca2	A	T	14: 67,950,673 (GRCm39)	L86H	probably damaging	Het
Cdh22	G	T	2: 164,954,214 (GRCm39)	S769*	probably null	Het
Cdhr17	A	G	5: 17,075,246 (GRCm39)	Y872C	possibly damaging	Het
Cep164	T	C	9: 45,686,664 (GRCm39)	E690G	probably damaging	Het
Cluh	A	G	11: 74,560,285 (GRCm39)	H1304R	probably benign	Het
Daxx	C	A	17: 34,129,435 (GRCm39)	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,636,127 (GRCm39)	M1117V	possibly damaging	Het
Entpd3	T	A	9: 120,389,821 (GRCm39)		probably null	Het
Etv5	G	A	16: 22,220,487 (GRCm39)	P300L	probably benign	Het
Exoc3l	A	T	8: 106,020,340 (GRCm39)	L195Q	probably damaging	Het
Exog	T	C	9: 119,274,069 (GRCm39)	L18P	unknown	Het
Fgfr1	T	A	8: 26,052,331 (GRCm39)	V219D	probably benign	Het
Gna14	A	T	19: 16,511,113 (GRCm39)	Q54L		Het
Gnb5	T	C	9: 75,221,570 (GRCm39)	L48P	probably benign	Het
Gpbp1	A	G	13: 111,589,924 (GRCm39)	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,149,884 (GRCm39)	D48E	probably damaging	Het
Hrc	T	A	7: 44,985,227 (GRCm39)	L126*	probably null	Het
Hspa8	T	G	9: 40,714,704 (GRCm39)	D333E	probably benign	Het
Igsf3	T	A	3: 101,338,895 (GRCm39)	V403D	probably benign	Het
Itga10	C	A	3: 96,555,475 (GRCm39)	A143D	probably damaging	Het
Kdr	T	A	5: 76,104,985 (GRCm39)	I1082F	probably damaging	Het
Klk1b11	A	T	7: 43,428,254 (GRCm39)	I242F	probably damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Map1b	G	A	13: 99,570,163 (GRCm39)	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880 (GRCm39)	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,439,615 (GRCm39)	T358S	probably damaging	Het
Msantd5l	A	C	11: 51,145,474 (GRCm39)	W38G	probably damaging	Het
Mttp	T	C	3: 137,800,783 (GRCm39)	D759G	probably damaging	Het
Mup17	T	A	4: 61,511,929 (GRCm39)	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,541,697 (GRCm39)	A79S	probably damaging	Het
Myo9a	T	A	9: 59,778,436 (GRCm39)	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,469 (GRCm39)		probably null	Het
Ncf1	A	T	5: 134,250,615 (GRCm39)	S402T	probably benign	Het
Ndufb10	T	C	17: 24,941,188 (GRCm39)	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,721,409 (GRCm39)	T163M	possibly damaging	Het
Nol4	A	T	18: 22,903,801 (GRCm39)	H172Q		Het
Nup205	T	A	6: 35,202,904 (GRCm39)	D1370E	possibly damaging	Het
Or1e32	A	C	11: 73,705,112 (GRCm39)	N265K	probably damaging	Het
Or51ab3	T	A	7: 103,201,892 (GRCm39)	I300N	probably damaging	Het
Or5b97	A	G	19: 12,878,637 (GRCm39)	F169S	probably damaging	Het
Pkd1l2	A	G	8: 117,750,773 (GRCm39)	V1746A	probably benign	Het
Plin2	T	A	4: 86,586,628 (GRCm39)	I68F	probably benign	Het
Proc	A	T	18: 32,268,952 (GRCm39)	M11K	probably benign	Het
Rif1	T	C	2: 51,995,631 (GRCm39)	V950A	probably benign	Het
Rmc1	A	G	18: 12,317,972 (GRCm39)	K362E	probably benign	Het
Rnf208	C	A	2: 25,133,587 (GRCm39)	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,571,011 (GRCm39)	Y269*	probably null	Het
Senp7	T	C	16: 56,006,445 (GRCm39)	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,419,269 (GRCm39)	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,099,121 (GRCm39)	H383N	probably benign	Het
Slc12a5	G	A	2: 164,834,360 (GRCm39)	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,616,482 (GRCm39)	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,188,103 (GRCm39)	I199L	probably damaging	Het
Styxl2	G	A	1: 165,926,300 (GRCm39)	T1104I	possibly damaging	Het
Tle4	A	T	19: 14,495,155 (GRCm39)	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,081,651 (GRCm39)	S271*	probably null	Het
Tnks2	G	A	19: 36,856,839 (GRCm39)	V855I	probably benign	Het
Trank1	T	C	9: 111,196,194 (GRCm39)	L1406S	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Trim25	A	T	11: 88,906,608 (GRCm39)	N448I	probably benign	Het
Trim31	T	A	17: 37,218,194 (GRCm39)	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,214,138 (GRCm39)	V502E	possibly damaging	Het
Usp10	A	C	8: 120,668,344 (GRCm39)	D215A	possibly damaging	Het
Usp33	T	G	3: 152,066,026 (GRCm39)	L102*	probably null	Het
Wdr12	A	T	1: 60,121,734 (GRCm39)	C272*	probably null	Het
Xndc1	A	C	7: 101,727,938 (GRCm39)		probably null	Het
Zkscan2	T	C	7: 123,089,276 (GRCm39)	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,841,885 (GRCm39)	T822S	probably benign	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
R0479:Esr1	UTSW	10	4,947,911 (GRCm39)	missense	probably damaging	1.00
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
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'- GCTTAGGCATCTACTGTATTGC -3'
(R):5'- ACTCTTTGACAGTCCATGGAC -3'

Sequencing Primer
(F):5'- GGCATCTACTGTATTGCCATTTATAG -3'
(R):5'- GTCCATGGACTATCAGATAGATGACC -3'

Posted On

2019-06-26