Incidental Mutation 'IGL02396:Esrra'
| ID |
294343 |
| 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 # |
IGL02396
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6888345-6899182 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 6889373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 339
(V339L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025906
(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 benign
Transcript: ENSMUST00000025906
AA Change: V339L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955
AA Change: V339L
| 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 |
noncoding transcript
Transcript: ENSMUST00000172869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173635
|
| SMART Domains |
Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955
| 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 |
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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
C |
T |
14: 54,882,256 (GRCm39) |
|
probably benign |
Het |
| Bhmt1b |
A |
G |
18: 87,774,780 (GRCm39) |
E101G |
possibly damaging |
Het |
| Bmp3 |
C |
A |
5: 99,020,578 (GRCm39) |
Q334K |
possibly damaging |
Het |
| Bnc2 |
G |
T |
4: 84,194,246 (GRCm39) |
S1026R |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,993,245 (GRCm39) |
G836S |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,768,149 (GRCm39) |
|
probably benign |
Het |
| Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
| Ccdc38 |
A |
G |
10: 93,409,994 (GRCm39) |
N271S |
possibly damaging |
Het |
| Ccdc81 |
T |
G |
7: 89,530,857 (GRCm39) |
I362L |
probably benign |
Het |
| Cdhr3 |
T |
A |
12: 33,095,195 (GRCm39) |
I625F |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,569,865 (GRCm39) |
R1568S |
probably benign |
Het |
| Cpeb4 |
T |
A |
11: 31,875,441 (GRCm39) |
S547T |
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,743,237 (GRCm39) |
N1075K |
probably damaging |
Het |
| Ghr |
A |
T |
15: 3,487,480 (GRCm39) |
M1K |
probably null |
Het |
| Gm4987 |
T |
A |
X: 45,544,991 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
G |
T |
2: 32,188,656 (GRCm39) |
|
probably benign |
Het |
| Gys1 |
T |
A |
7: 45,089,012 (GRCm39) |
I137N |
probably damaging |
Het |
| Hs3st5 |
A |
T |
10: 36,704,699 (GRCm39) |
M1L |
probably benign |
Het |
| Hsd3b5 |
T |
A |
3: 98,529,343 (GRCm39) |
T96S |
probably benign |
Het |
| Ighv6-3 |
T |
C |
12: 114,355,356 (GRCm39) |
D111G |
probably damaging |
Het |
| Immp1l |
T |
A |
2: 105,767,351 (GRCm39) |
I70N |
probably damaging |
Het |
| Ints4 |
G |
A |
7: 97,187,107 (GRCm39) |
V866I |
possibly damaging |
Het |
| Large2 |
G |
T |
2: 92,196,668 (GRCm39) |
Y529* |
probably null |
Het |
| Maf1 |
C |
A |
15: 76,237,457 (GRCm39) |
Y166* |
probably null |
Het |
| Manba |
T |
A |
3: 135,250,525 (GRCm39) |
M384K |
probably damaging |
Het |
| Mapk4 |
C |
A |
18: 74,067,068 (GRCm39) |
|
probably null |
Het |
| Mc5r |
T |
C |
18: 68,472,537 (GRCm39) |
S299P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,700,120 (GRCm39) |
N1404K |
probably damaging |
Het |
| Milr1 |
C |
A |
11: 106,656,065 (GRCm39) |
Y212* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,114,978 (GRCm39) |
S1115P |
probably damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,218,049 (GRCm39) |
|
probably benign |
Het |
| Or4f61 |
C |
A |
2: 111,922,812 (GRCm39) |
C78F |
probably benign |
Het |
| Osbpl7 |
T |
G |
11: 96,946,377 (GRCm39) |
L158R |
probably damaging |
Het |
| Psmd4 |
A |
T |
3: 94,943,221 (GRCm39) |
L61Q |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,381,554 (GRCm39) |
N310I |
possibly damaging |
Het |
| Rpl21-ps6 |
A |
G |
17: 56,222,400 (GRCm39) |
|
noncoding transcript |
Het |
| Slc31a2 |
T |
C |
4: 62,215,310 (GRCm39) |
I119T |
probably damaging |
Het |
| Srgap2 |
C |
A |
1: 131,220,413 (GRCm39) |
C187F |
probably damaging |
Het |
| Tekt5 |
C |
A |
16: 10,196,931 (GRCm39) |
A307S |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,775,432 (GRCm39) |
V1916A |
unknown |
Het |
| Wee1 |
T |
G |
7: 109,741,300 (GRCm39) |
V641G |
probably damaging |
Het |
| Zfand6 |
G |
A |
7: 84,267,111 (GRCm39) |
P157L |
probably damaging |
Het |
|
| Other mutations in Esrra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01415:Esrra
|
APN |
19 |
6,890,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:Esrra
|
APN |
19 |
6,891,190 (GRCm39) |
missense |
probably benign |
0.38 |
|
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 |
2015-04-16 |
Incidental Mutation