Incidental Mutation 'IGL01415:Esrra'
ID |
80208 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Esrra
|
Ensembl Gene |
ENSMUSG00000024955 |
Gene Name |
estrogen related receptor, alpha |
Synonyms |
ERRalpha, Err1, Nr3b1, Estrra |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01415
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
6888345-6899182 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 6890100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Cysteine
at position 98
(W98C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025904]
[ENSMUST00000025906]
[ENSMUST00000088257]
[ENSMUST00000116551]
[ENSMUST00000149261]
[ENSMUST00000173635]
[ENSMUST00000174786]
[ENSMUST00000173091]
|
AlphaFold |
O08580 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025904
|
SMART Domains |
Protein: ENSMUSP00000025904 Gene: ENSMUSG00000024953
Domain | Start | End | E-Value | Type |
Pfam:Redoxin
|
53 |
206 |
1e-31 |
PFAM |
Pfam:AhpC-TSA
|
54 |
189 |
8.4e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025906
AA Change: W241C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025906 Gene: ENSMUSG00000024955 AA Change: W241C
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
5 |
21 |
6.74e-5 |
PROSPERO |
low complexity region
|
52 |
67 |
N/A |
INTRINSIC |
ZnF_C4
|
76 |
147 |
2.16e-40 |
SMART |
low complexity region
|
169 |
187 |
N/A |
INTRINSIC |
internal_repeat_1
|
202 |
218 |
6.74e-5 |
PROSPERO |
HOLI
|
229 |
391 |
9.21e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088257
|
SMART Domains |
Protein: ENSMUSP00000085591 Gene: ENSMUSG00000038812
Domain | Start | End | E-Value | Type |
Pfam:Trm112p
|
2 |
112 |
1.3e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116551
|
SMART Domains |
Protein: ENSMUSP00000112250 Gene: ENSMUSG00000038812
Domain | Start | End | E-Value | Type |
Pfam:Trm112p
|
2 |
112 |
1.3e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145300
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149261
|
SMART Domains |
Protein: ENSMUSP00000135084 Gene: ENSMUSG00000024953
Domain | Start | End | E-Value | Type |
Pfam:Redoxin
|
56 |
210 |
1.1e-31 |
PFAM |
Pfam:AhpC-TSA
|
57 |
192 |
6.8e-17 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173635
AA Change: W98C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134587 Gene: ENSMUSG00000024955 AA Change: W98C
Domain | Start | End | E-Value | Type |
PDB:1LO1|A
|
1 |
21 |
6e-7 |
PDB |
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
Pfam:Hormone_recep
|
65 |
158 |
4.7e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183724
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172869
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174786
|
SMART Domains |
Protein: ENSMUSP00000134000 Gene: ENSMUSG00000038812
Domain | Start | End | E-Value | Type |
Pfam:Trm112p
|
2 |
101 |
5.6e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173091
|
SMART Domains |
Protein: ENSMUSP00000134521 Gene: ENSMUSG00000024953
Domain | Start | End | E-Value | Type |
Pfam:Redoxin
|
53 |
99 |
3.3e-11 |
PFAM |
Pfam:AhpC-TSA
|
54 |
100 |
9.3e-8 |
PFAM |
Pfam:Redoxin
|
97 |
163 |
1.8e-7 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mice for one mutation were viable but showed reduced weight gain associated with decreased peripheral fat deposition. Mutant mice were resistant to high-fat diet induced obesity. Another targeted mutation resulted in no significant abnormalities in homozygotes. [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 |
Ankrd44 |
T |
C |
1: 54,792,087 (GRCm39) |
H316R |
probably damaging |
Het |
Arfgef2 |
G |
A |
2: 166,709,275 (GRCm39) |
M1117I |
probably damaging |
Het |
Cdc42bpg |
A |
G |
19: 6,360,881 (GRCm39) |
D213G |
probably damaging |
Het |
Cfap69 |
G |
A |
5: 5,696,979 (GRCm39) |
P106S |
probably damaging |
Het |
Chkb |
A |
T |
15: 89,312,987 (GRCm39) |
L30H |
probably damaging |
Het |
Cit |
A |
G |
5: 116,079,962 (GRCm39) |
K758E |
possibly damaging |
Het |
Clstn3 |
G |
A |
6: 124,415,781 (GRCm39) |
Q634* |
probably null |
Het |
Efcab15 |
T |
C |
11: 103,091,754 (GRCm39) |
Q42R |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,892,058 (GRCm39) |
|
probably benign |
Het |
Gcnt3 |
G |
T |
9: 69,941,739 (GRCm39) |
H276Q |
probably benign |
Het |
Gm16506 |
A |
G |
14: 43,961,630 (GRCm39) |
Y206H |
probably benign |
Het |
Gvin3 |
C |
T |
7: 106,202,258 (GRCm39) |
|
noncoding transcript |
Het |
Hkdc1 |
T |
A |
10: 62,229,638 (GRCm39) |
N680Y |
probably damaging |
Het |
Ighe |
A |
C |
12: 113,235,011 (GRCm39) |
L383R |
unknown |
Het |
Lgals9 |
T |
G |
11: 78,863,977 (GRCm39) |
D56A |
probably damaging |
Het |
Marveld3 |
G |
A |
8: 110,688,705 (GRCm39) |
T12I |
possibly damaging |
Het |
Nab2 |
A |
T |
10: 127,500,972 (GRCm39) |
L40Q |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,439,798 (GRCm39) |
E323G |
probably benign |
Het |
Nubpl |
T |
A |
12: 52,317,853 (GRCm39) |
V182E |
possibly damaging |
Het |
Or2ag15 |
A |
G |
7: 106,340,706 (GRCm39) |
V145A |
probably benign |
Het |
Or4c11 |
T |
A |
2: 88,695,864 (GRCm39) |
M305K |
probably benign |
Het |
Or6b3 |
A |
G |
1: 92,438,974 (GRCm39) |
Y259H |
probably damaging |
Het |
Peg3 |
A |
G |
7: 6,714,652 (GRCm39) |
I190T |
probably damaging |
Het |
Plcl1 |
G |
A |
1: 55,735,555 (GRCm39) |
V299M |
possibly damaging |
Het |
Ppp4r1 |
G |
A |
17: 66,120,522 (GRCm39) |
E219K |
probably damaging |
Het |
Sh3d19 |
G |
A |
3: 86,005,492 (GRCm39) |
A280T |
probably benign |
Het |
Srebf2 |
A |
G |
15: 82,061,663 (GRCm39) |
I370V |
probably benign |
Het |
Tfb2m |
A |
G |
1: 179,359,695 (GRCm39) |
|
probably benign |
Het |
Ttll7 |
T |
G |
3: 146,615,354 (GRCm39) |
S273A |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,074,944 (GRCm39) |
N1401D |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
Zfand4 |
G |
A |
6: 116,291,830 (GRCm39) |
R588Q |
probably benign |
Het |
|
Other mutations in Esrra |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02153:Esrra
|
APN |
19 |
6,891,190 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02396:Esrra
|
APN |
19 |
6,889,373 (GRCm39) |
missense |
probably benign |
|
IGL02642:Esrra
|
APN |
19 |
6,890,218 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1463:Esrra
|
UTSW |
19 |
6,889,823 (GRCm39) |
missense |
probably benign |
|
R1484:Esrra
|
UTSW |
19 |
6,890,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R1546:Esrra
|
UTSW |
19 |
6,897,665 (GRCm39) |
missense |
probably benign |
0.07 |
R1848:Esrra
|
UTSW |
19 |
6,889,378 (GRCm39) |
missense |
probably benign |
0.05 |
R2397:Esrra
|
UTSW |
19 |
6,897,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R4853:Esrra
|
UTSW |
19 |
6,897,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R5580:Esrra
|
UTSW |
19 |
6,897,755 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R5587:Esrra
|
UTSW |
19 |
6,897,575 (GRCm39) |
missense |
probably benign |
|
R6270:Esrra
|
UTSW |
19 |
6,891,488 (GRCm39) |
splice site |
probably null |
|
R6612:Esrra
|
UTSW |
19 |
6,889,220 (GRCm39) |
missense |
probably benign |
0.01 |
R6807:Esrra
|
UTSW |
19 |
6,889,142 (GRCm39) |
missense |
probably benign |
0.14 |
R7288:Esrra
|
UTSW |
19 |
6,890,139 (GRCm39) |
nonsense |
probably null |
|
R7599:Esrra
|
UTSW |
19 |
6,891,214 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9242:Esrra
|
UTSW |
19 |
6,889,863 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2013-11-05 |