Incidental Mutation 'IGL01390:Sra1'
| ID |
79171 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sra1
|
| Ensembl Gene |
ENSMUSG00000006050 |
| Gene Name |
steroid receptor RNA activator 1 |
| Synonyms |
Srap |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36800240-36803364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36803134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 37
(L37P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001415]
[ENSMUST00000036765]
[ENSMUST00000142977]
[ENSMUST00000173875]
|
| AlphaFold |
Q80VJ2 |
| PDB Structure |
Solution structure of mouse Steroid receptor RNA activator 1 (SRA1) protein [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001415
|
| SMART Domains |
Protein: ENSMUSP00000001415
Gene: ENSMUSG00000006050
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
30 |
61 |
1.72e-7 |
SMART |
|
low complexity region
|
85 |
100 |
N/A |
INTRINSIC |
|
PTB
|
114 |
260 |
7.64e-37 |
SMART |
|
PTB
|
286 |
420 |
4.07e-32 |
SMART |
|
low complexity region
|
444 |
468 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000006209
AA Change: L29P
|
| SMART Domains |
Protein: ENSMUSP00000006209
Gene: ENSMUSG00000006050
AA Change: L29P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRA1
|
65 |
208 |
1e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036765
|
| SMART Domains |
Protein: ENSMUSP00000039298
Gene: ENSMUSG00000090264
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:eIF_4EBP
|
3 |
101 |
4.8e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140061
|
| SMART Domains |
Protein: ENSMUSP00000121811
Gene: ENSMUSG00000024483
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
375 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142977
|
| SMART Domains |
Protein: ENSMUSP00000120290
Gene: ENSMUSG00000024483
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
|
ANK
|
207 |
236 |
2.11e2 |
SMART |
|
ANK
|
240 |
269 |
3.31e-1 |
SMART |
|
ANK
|
274 |
303 |
5.24e-4 |
SMART |
|
ANK
|
307 |
336 |
7.64e-6 |
SMART |
|
ANK
|
340 |
369 |
2.7e-6 |
SMART |
|
ANK
|
374 |
403 |
3.23e-4 |
SMART |
|
ANK
|
407 |
436 |
1.61e-4 |
SMART |
|
ANK
|
440 |
469 |
5.16e-3 |
SMART |
|
ANK
|
473 |
502 |
4.16e-7 |
SMART |
|
ANK
|
507 |
536 |
1.68e-2 |
SMART |
|
ANK
|
537 |
566 |
7.02e-5 |
SMART |
|
ANK
|
570 |
599 |
7.95e-4 |
SMART |
|
ANK
|
603 |
632 |
4.56e-4 |
SMART |
|
ANK
|
637 |
666 |
9.64e-3 |
SMART |
|
ANK
|
670 |
699 |
6.71e-2 |
SMART |
|
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
|
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
|
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
|
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
|
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
|
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
|
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
|
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
|
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
|
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
|
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
|
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
|
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
|
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
|
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
|
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
|
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
|
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
|
low complexity region
|
2334 |
2346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173202
|
| Predicted Effect |
silent
Transcript: ENSMUST00000173482
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173875
AA Change: L37P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133360
Gene: ENSMUSG00000006050
AA Change: L37P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRA1
|
72 |
217 |
1.1e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174125
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Both long non-coding and protein-coding RNAs are transcribed from this gene, and they represent alternatively spliced transcript variants. This gene was initially defined as a non-coding RNA, which is a coactivator for several nuclear receptors (NRs) and is associated with breast cancer. It has now been found that this gene is involved in the regulation of many NR and non-NR activities, including metabolism, adipogenesis and chromatin organization. The long non-coding RNA transcripts interact with a variety of proteins, including the protein encoded by this gene. The encoded protein acts as a transcriptional repressor by binding to the non-coding RNA. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous null mice are protected against diet-induced obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0a1 |
A |
G |
11: 100,934,628 (GRCm39) |
K565R |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,665,548 (GRCm39) |
T158A |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,411,686 (GRCm39) |
D3685G |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,346,776 (GRCm39) |
I236T |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,714,341 (GRCm39) |
V1803A |
probably damaging |
Het |
| Epb41 |
T |
C |
4: 131,731,048 (GRCm39) |
I178V |
probably benign |
Het |
| Gm10110 |
C |
A |
14: 90,135,677 (GRCm39) |
|
noncoding transcript |
Het |
| H2ac6 |
T |
C |
13: 23,867,499 (GRCm39) |
|
probably benign |
Het |
| Hoxb7 |
A |
C |
11: 96,177,837 (GRCm39) |
N95T |
probably benign |
Het |
| Ikzf2 |
C |
A |
1: 69,609,801 (GRCm39) |
C116F |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,218,679 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
C |
T |
6: 55,874,983 (GRCm39) |
P311L |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,017,700 (GRCm39) |
Y649H |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,679,998 (GRCm39) |
|
probably benign |
Het |
| Msi1 |
T |
A |
5: 115,576,780 (GRCm39) |
D137E |
possibly damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,984 (GRCm39) |
I46V |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,150,376 (GRCm39) |
Y507C |
probably benign |
Het |
| Prl7d1 |
A |
G |
13: 27,894,149 (GRCm39) |
V140A |
possibly damaging |
Het |
| Rb1 |
T |
A |
14: 73,532,439 (GRCm39) |
I132F |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,447,339 (GRCm39) |
|
probably benign |
Het |
| Rpl18a |
G |
T |
8: 71,348,154 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 55,026,588 (GRCm39) |
I1274V |
probably benign |
Het |
| Slc9a3 |
A |
C |
13: 74,298,880 (GRCm39) |
I100L |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,778,570 (GRCm39) |
Y996N |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,076,369 (GRCm39) |
Q440R |
possibly damaging |
Het |
| Tacc3 |
C |
T |
5: 33,825,405 (GRCm39) |
|
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,448 (GRCm39) |
Y87F |
probably benign |
Het |
| Tbl2 |
T |
C |
5: 135,185,217 (GRCm39) |
|
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,115,889 (GRCm39) |
S410F |
probably damaging |
Het |
|
| Other mutations in Sra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Sra1
|
APN |
18 |
36,801,792 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01645:Sra1
|
APN |
18 |
36,804,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02478:Sra1
|
APN |
18 |
36,801,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02578:Sra1
|
APN |
18 |
36,803,150 (GRCm39) |
nonsense |
probably null |
|
|
R0218:Sra1
|
UTSW |
18 |
36,809,662 (GRCm39) |
unclassified |
probably benign |
|
|
R0243:Sra1
|
UTSW |
18 |
36,808,759 (GRCm39) |
nonsense |
probably null |
|
|
R0432:Sra1
|
UTSW |
18 |
36,810,556 (GRCm39) |
missense |
probably benign |
|
|
R0834:Sra1
|
UTSW |
18 |
36,801,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1886:Sra1
|
UTSW |
18 |
36,801,830 (GRCm39) |
missense |
probably benign |
|
|
R2105:Sra1
|
UTSW |
18 |
36,808,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2911:Sra1
|
UTSW |
18 |
36,809,238 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4951:Sra1
|
UTSW |
18 |
36,809,494 (GRCm39) |
nonsense |
probably null |
|
|
R5034:Sra1
|
UTSW |
18 |
36,812,048 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5091:Sra1
|
UTSW |
18 |
36,803,012 (GRCm39) |
intron |
probably benign |
|
|
R5122:Sra1
|
UTSW |
18 |
36,800,647 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5656:Sra1
|
UTSW |
18 |
36,811,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5722:Sra1
|
UTSW |
18 |
36,808,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Sra1
|
UTSW |
18 |
36,803,226 (GRCm39) |
intron |
probably benign |
|
|
R5729:Sra1
|
UTSW |
18 |
36,800,496 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5937:Sra1
|
UTSW |
18 |
36,804,652 (GRCm39) |
splice site |
probably null |
|
|
R6145:Sra1
|
UTSW |
18 |
36,800,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6161:Sra1
|
UTSW |
18 |
36,803,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7423:Sra1
|
UTSW |
18 |
36,800,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8074:Sra1
|
UTSW |
18 |
36,808,064 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8100:Sra1
|
UTSW |
18 |
36,809,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8483:Sra1
|
UTSW |
18 |
36,800,879 (GRCm39) |
missense |
probably benign |
|
|
R9040:Sra1
|
UTSW |
18 |
36,808,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9044:Sra1
|
UTSW |
18 |
36,800,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9428:Sra1
|
UTSW |
18 |
36,810,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Sra1
|
UTSW |
18 |
36,803,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation