Incidental Mutation 'R4323:Esr1'
| ID |
323922 |
| 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 |
041094-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R4323 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
4561989-4955633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4951307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 562
(V562M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067086]
[ENSMUST00000105589]
[ENSMUST00000105590]
|
| AlphaFold |
P19785 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067086
AA Change: V562M
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070070
Gene: ENSMUSG00000019768
AA Change: V562M
| 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 |
possibly damaging
Transcript: ENSMUST00000105589
AA Change: V562M
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101214
Gene: ENSMUSG00000019768
AA Change: V562M
| 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: V562M
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101215
Gene: ENSMUSG00000019768
AA Change: V562M
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
95% (59/62) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,548 (GRCm39) |
Y414C |
probably damaging |
Het |
| Akr1b1 |
T |
C |
6: 34,287,862 (GRCm39) |
T166A |
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,711,686 (GRCm39) |
S94L |
probably damaging |
Het |
| B4galt3 |
G |
T |
1: 171,103,515 (GRCm39) |
M68I |
possibly damaging |
Het |
| Bpnt1 |
A |
C |
1: 185,088,786 (GRCm39) |
H312P |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,027 (GRCm39) |
V724A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,946,831 (GRCm39) |
C1022F |
probably damaging |
Het |
| Cwf19l2 |
T |
G |
9: 3,430,452 (GRCm39) |
F261L |
probably damaging |
Het |
| Fap |
T |
C |
2: 62,333,716 (GRCm39) |
H643R |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,648,232 (GRCm39) |
M769L |
probably benign |
Het |
| Fgfr1 |
A |
G |
8: 26,063,915 (GRCm39) |
N814S |
probably benign |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
C |
16: 84,619,744 (GRCm39) |
|
probably benign |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,746,603 (GRCm39) |
I14T |
probably benign |
Het |
| Mitf |
A |
G |
6: 97,968,910 (GRCm39) |
Y10C |
probably benign |
Het |
| Mpo |
T |
C |
11: 87,686,865 (GRCm39) |
S165P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,884,696 (GRCm39) |
S486P |
probably benign |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,537,969 (GRCm39) |
V205I |
possibly damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,767 (GRCm39) |
|
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,802,608 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,118 (GRCm39) |
L218P |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,487,529 (GRCm39) |
I521T |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,735,270 (GRCm39) |
I618T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Sp8 |
A |
G |
12: 118,812,171 (GRCm39) |
I9V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,434,407 (GRCm39) |
M352L |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,349 (GRCm39) |
M66T |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,159 (GRCm39) |
N32K |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,879,348 (GRCm39) |
T1486S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,153 (GRCm39) |
N281S |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 108,025,938 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- CCCAAGTGCCTTTGGAGTTG -3'
(R):5'- CATGACATGGGTAAAATGTTGCAG -3'
Sequencing Primer
(F):5'- AAGAATTTCAGCCGTCCTGG -3'
(R):5'- TTGCAGGGATTCTCAGAACC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation