Incidental Mutation 'IGL02621:Esrrb'
ID |
300845 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Esrrb
|
Ensembl Gene |
ENSMUSG00000021255 |
Gene Name |
estrogen related receptor, beta |
Synonyms |
ERRb, Estrrb, ERR2, Err2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02621
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
86407891-86568402 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86468735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 16
(N16S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021680]
[ENSMUST00000110203]
[ENSMUST00000110204]
[ENSMUST00000116402]
|
AlphaFold |
Q61539 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021680
|
SMART Domains |
Protein: ENSMUSP00000021680 Gene: ENSMUSG00000021255
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
ZnF_C4
|
100 |
171 |
7.03e-40 |
SMART |
Blast:HOLI
|
178 |
208 |
3e-9 |
BLAST |
HOLI
|
245 |
403 |
6.36e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110203
AA Change: N16S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105832 Gene: ENSMUSG00000021255 AA Change: N16S
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
67 |
N/A |
INTRINSIC |
ZnF_C4
|
121 |
192 |
7.03e-40 |
SMART |
HOLI
|
266 |
377 |
6.61e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110204
AA Change: N16S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105833 Gene: ENSMUSG00000021255 AA Change: N16S
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
67 |
N/A |
INTRINSIC |
ZnF_C4
|
121 |
192 |
7.03e-40 |
SMART |
Blast:HOLI
|
199 |
229 |
3e-9 |
BLAST |
HOLI
|
266 |
424 |
6.36e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116402
|
SMART Domains |
Protein: ENSMUSP00000112103 Gene: ENSMUSG00000021255
Domain | Start | End | E-Value | Type |
low complexity region
|
36 |
51 |
N/A |
INTRINSIC |
ZnF_C4
|
105 |
176 |
7.03e-40 |
SMART |
Blast:HOLI
|
183 |
213 |
3e-9 |
BLAST |
HOLI
|
250 |
408 |
6.36e-38 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar protein in mouse plays an essential role in placental development. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos around E9.5 or E10.5 as a result of failure of the chorion to develop and subsequent placental defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002L01Rik |
C |
A |
12: 3,476,688 (GRCm39) |
|
probably benign |
Het |
2210408I21Rik |
T |
C |
13: 77,408,150 (GRCm39) |
I159T |
possibly damaging |
Het |
Agpat3 |
T |
A |
10: 78,120,900 (GRCm39) |
I93F |
probably damaging |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Atr |
G |
A |
9: 95,790,453 (GRCm39) |
A1598T |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,095,633 (GRCm39) |
|
probably benign |
Het |
Clk1 |
T |
C |
1: 58,453,614 (GRCm39) |
D324G |
probably damaging |
Het |
Cntnap4 |
A |
T |
8: 113,537,355 (GRCm39) |
D742V |
probably damaging |
Het |
Grm1 |
A |
T |
10: 10,564,755 (GRCm39) |
Y1184* |
probably null |
Het |
Hint1 |
G |
T |
11: 54,761,011 (GRCm39) |
|
probably benign |
Het |
Itch |
A |
T |
2: 155,014,504 (GRCm39) |
|
probably null |
Het |
Lmod3 |
T |
C |
6: 97,215,796 (GRCm39) |
|
probably benign |
Het |
Map3k4 |
C |
A |
17: 12,482,900 (GRCm39) |
A606S |
probably damaging |
Het |
Mapk4 |
A |
T |
18: 74,103,346 (GRCm39) |
S54R |
probably damaging |
Het |
Megf11 |
A |
G |
9: 64,601,214 (GRCm39) |
D807G |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,325,326 (GRCm39) |
T398A |
possibly damaging |
Het |
Nme8 |
T |
G |
13: 19,859,818 (GRCm39) |
K28N |
probably damaging |
Het |
Pamr1 |
A |
G |
2: 102,464,688 (GRCm39) |
N279S |
probably benign |
Het |
Pcca |
A |
T |
14: 122,922,391 (GRCm39) |
D384V |
probably damaging |
Het |
Prkag1 |
A |
T |
15: 98,711,909 (GRCm39) |
I239N |
probably damaging |
Het |
Psme4 |
A |
G |
11: 30,798,131 (GRCm39) |
T1375A |
probably benign |
Het |
Ptk2 |
A |
C |
15: 73,077,994 (GRCm39) |
L1024R |
probably damaging |
Het |
Rere |
G |
A |
4: 150,698,269 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
G |
2: 65,579,223 (GRCm39) |
|
probably benign |
Het |
Sema5a |
T |
A |
15: 32,538,802 (GRCm39) |
|
probably benign |
Het |
Shoc1 |
A |
T |
4: 59,062,668 (GRCm39) |
W863R |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,097,879 (GRCm39) |
W9R |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,187,741 (GRCm39) |
M533L |
probably benign |
Het |
Ttll4 |
T |
A |
1: 74,726,643 (GRCm39) |
S720T |
probably damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,780 (GRCm39) |
R212S |
probably damaging |
Het |
Vmn2r114 |
T |
C |
17: 23,529,494 (GRCm39) |
I203V |
probably damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
|
Other mutations in Esrrb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0083:Esrrb
|
UTSW |
12 |
86,561,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R0194:Esrrb
|
UTSW |
12 |
86,517,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R0666:Esrrb
|
UTSW |
12 |
86,552,676 (GRCm39) |
missense |
probably benign |
0.01 |
R0834:Esrrb
|
UTSW |
12 |
86,517,071 (GRCm39) |
missense |
probably benign |
0.14 |
R0946:Esrrb
|
UTSW |
12 |
86,552,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R1108:Esrrb
|
UTSW |
12 |
86,552,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R1619:Esrrb
|
UTSW |
12 |
86,561,274 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1674:Esrrb
|
UTSW |
12 |
86,561,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R2139:Esrrb
|
UTSW |
12 |
86,468,740 (GRCm39) |
critical splice donor site |
probably null |
|
R4592:Esrrb
|
UTSW |
12 |
86,565,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R5377:Esrrb
|
UTSW |
12 |
86,565,783 (GRCm39) |
nonsense |
probably null |
|
R5807:Esrrb
|
UTSW |
12 |
86,561,175 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5871:Esrrb
|
UTSW |
12 |
86,552,661 (GRCm39) |
missense |
probably benign |
0.29 |
R6145:Esrrb
|
UTSW |
12 |
86,552,673 (GRCm39) |
missense |
probably benign |
|
R6467:Esrrb
|
UTSW |
12 |
86,561,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R7098:Esrrb
|
UTSW |
12 |
86,517,189 (GRCm39) |
missense |
probably benign |
0.01 |
R7289:Esrrb
|
UTSW |
12 |
86,517,331 (GRCm39) |
critical splice donor site |
probably null |
|
R8283:Esrrb
|
UTSW |
12 |
86,468,732 (GRCm39) |
missense |
probably benign |
|
R8444:Esrrb
|
UTSW |
12 |
86,552,595 (GRCm39) |
missense |
probably benign |
0.29 |
R8712:Esrrb
|
UTSW |
12 |
86,565,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R8791:Esrrb
|
UTSW |
12 |
86,517,056 (GRCm39) |
missense |
probably damaging |
0.98 |
R8794:Esrrb
|
UTSW |
12 |
86,517,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R8812:Esrrb
|
UTSW |
12 |
86,535,324 (GRCm39) |
missense |
probably benign |
0.23 |
R9369:Esrrb
|
UTSW |
12 |
86,517,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |