Incidental Mutation 'IGL02153:Esrra'
| ID |
282129 |
| 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 # |
IGL02153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6888345-6899182 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6891190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 190
(T190I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025904]
[ENSMUST00000025906]
[ENSMUST00000088257]
[ENSMUST00000116551]
[ENSMUST00000173091]
[ENSMUST00000173635]
[ENSMUST00000174786]
|
| 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: T190I
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955
AA Change: T190I
| 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 |
noncoding transcript
Transcript: ENSMUST00000172869
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173635
AA Change: T47I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955
AA Change: T47I
| 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: ENSMUST00000173308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183724
|
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
C |
2: 152,283,161 (GRCm39) |
I275T |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,683,122 (GRCm39) |
K521* |
probably null |
Het |
| Csn3 |
A |
T |
5: 88,077,956 (GRCm39) |
N154I |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,180,670 (GRCm39) |
S1716P |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,846,304 (GRCm39) |
S18T |
probably benign |
Het |
| F13b |
T |
C |
1: 139,444,115 (GRCm39) |
I483T |
probably damaging |
Het |
| Foxb1 |
T |
A |
9: 69,666,985 (GRCm39) |
M182L |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,809,065 (GRCm39) |
F1795L |
probably benign |
Het |
| Gkn2 |
G |
A |
6: 87,350,390 (GRCm39) |
|
probably null |
Het |
| Gm8439 |
G |
A |
4: 120,466,787 (GRCm39) |
A93T |
unknown |
Het |
| Ift22 |
T |
C |
5: 136,940,550 (GRCm39) |
S72P |
probably benign |
Het |
| Kcnmb2 |
A |
G |
3: 32,232,993 (GRCm39) |
K24E |
probably damaging |
Het |
| Kcnq3 |
C |
A |
15: 65,897,040 (GRCm39) |
V287L |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,006,340 (GRCm39) |
M1262L |
probably benign |
Het |
| Mb21d2 |
A |
G |
16: 28,748,240 (GRCm39) |
I59T |
probably benign |
Het |
| Mogat2 |
A |
T |
7: 98,872,761 (GRCm39) |
M141K |
possibly damaging |
Het |
| Mtdh |
C |
T |
15: 34,131,396 (GRCm39) |
L409F |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,372,537 (GRCm39) |
Q2724* |
probably null |
Het |
| Myo15a |
T |
G |
11: 60,389,223 (GRCm39) |
L2040R |
probably damaging |
Het |
| Nodal |
C |
T |
10: 61,260,324 (GRCm39) |
T325I |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,215,674 (GRCm39) |
T1194S |
probably damaging |
Het |
| Pcdhb13 |
A |
C |
18: 37,576,738 (GRCm39) |
D372A |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,934,015 (GRCm39) |
N292K |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,776,793 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
T |
C |
2: 135,229,773 (GRCm39) |
I1131T |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,688,772 (GRCm39) |
D132V |
probably damaging |
Het |
| Plxnb2 |
C |
A |
15: 89,050,016 (GRCm39) |
E502* |
probably null |
Het |
| Prox2 |
T |
C |
12: 85,134,703 (GRCm39) |
N526S |
probably damaging |
Het |
| Rdm1 |
T |
A |
11: 101,519,280 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
C |
T |
3: 79,567,427 (GRCm39) |
E308K |
probably benign |
Het |
| Sgca |
T |
C |
11: 94,854,110 (GRCm39) |
T120A |
probably damaging |
Het |
| Sh3tc1 |
G |
A |
5: 35,860,696 (GRCm39) |
R1054W |
probably damaging |
Het |
| Smarcal1 |
C |
T |
1: 72,672,214 (GRCm39) |
|
probably benign |
Het |
| Spata45 |
T |
A |
1: 190,771,958 (GRCm39) |
M60K |
probably benign |
Het |
| St8sia6 |
T |
C |
2: 13,661,716 (GRCm39) |
M372V |
probably damaging |
Het |
| Tas2r126 |
T |
G |
6: 42,411,598 (GRCm39) |
S44A |
probably benign |
Het |
| Tcea3 |
T |
A |
4: 136,000,945 (GRCm39) |
|
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,668,949 (GRCm39) |
E1157G |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,546,857 (GRCm39) |
I840V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,728,685 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,187,471 (GRCm39) |
Y3846* |
probably null |
Het |
| Usp47 |
G |
A |
7: 111,703,256 (GRCm39) |
D1171N |
probably benign |
Het |
| Vmn2r114 |
G |
A |
17: 23,510,782 (GRCm39) |
T566I |
probably benign |
Het |
| Wdr35 |
G |
A |
12: 9,058,535 (GRCm39) |
R575Q |
probably null |
Het |
| Xkr5 |
A |
T |
8: 18,983,683 (GRCm39) |
C454S |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation