Incidental Mutation 'R5122:Sra1'
| ID |
393376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sra1
|
| Ensembl Gene |
ENSMUSG00000006050 |
| Gene Name |
steroid receptor RNA activator 1 |
| Synonyms |
Srap |
| MMRRC Submission |
042710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5122 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
36800240-36803364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36800647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 187
(T187A)
|
| 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: T177A
|
| SMART Domains |
Protein: ENSMUSP00000006209
Gene: ENSMUSG00000006050
AA Change: T177A
| 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 |
probably benign
Transcript: ENSMUST00000173482
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173875
AA Change: T187A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133360
Gene: ENSMUSG00000006050
AA Change: T187A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRA1
|
72 |
217 |
1.1e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174125
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
C |
7: 78,750,409 (GRCm39) |
S1727P |
probably damaging |
Het |
| Actr8 |
A |
T |
14: 29,704,672 (GRCm39) |
K57N |
possibly damaging |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,088,906 (GRCm39) |
|
probably null |
Het |
| Bmp2k |
A |
G |
5: 97,234,874 (GRCm39) |
|
probably benign |
Het |
| Cd274 |
A |
G |
19: 29,357,965 (GRCm39) |
H219R |
possibly damaging |
Het |
| Cdc16 |
A |
T |
8: 13,814,570 (GRCm39) |
Y118F |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Chchd3 |
T |
C |
6: 32,945,240 (GRCm39) |
R89G |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,343,474 (GRCm39) |
V658M |
probably damaging |
Het |
| Cpt1b |
A |
G |
15: 89,308,226 (GRCm39) |
S160P |
probably benign |
Het |
| Crym |
T |
C |
7: 119,794,718 (GRCm39) |
N167S |
probably benign |
Het |
| Dhx16 |
T |
A |
17: 36,194,202 (GRCm39) |
Y438N |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,439,155 (GRCm39) |
R536G |
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,061,454 (GRCm39) |
D382G |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,596,114 (GRCm39) |
G1547D |
probably damaging |
Het |
| Eml3 |
T |
A |
19: 8,915,060 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,816,036 (GRCm39) |
P2799S |
probably damaging |
Het |
| Ephb6 |
T |
C |
6: 41,590,338 (GRCm39) |
V30A |
probably benign |
Het |
| Fam53b |
T |
A |
7: 132,380,991 (GRCm39) |
|
probably benign |
Het |
| Fcrl1 |
A |
G |
3: 87,293,081 (GRCm39) |
K246R |
probably benign |
Het |
| Focad |
G |
A |
4: 88,325,602 (GRCm39) |
|
probably null |
Het |
| Glipr1l2 |
T |
C |
10: 111,942,961 (GRCm39) |
I272T |
possibly damaging |
Het |
| Gm8104 |
A |
G |
14: 42,966,550 (GRCm39) |
I101V |
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,724,028 (GRCm39) |
I773V |
probably damaging |
Het |
| Hyal1 |
A |
T |
9: 107,455,268 (GRCm39) |
T193S |
probably benign |
Het |
| Igkv10-94 |
C |
A |
6: 68,681,655 (GRCm39) |
G62* |
probably null |
Het |
| Itsn1 |
A |
G |
16: 91,690,732 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
A |
G |
4: 98,644,804 (GRCm39) |
S983P |
probably damaging |
Het |
| Krtap16-1 |
C |
A |
11: 99,876,523 (GRCm39) |
V294F |
probably damaging |
Het |
| Lama3 |
T |
G |
18: 12,672,823 (GRCm39) |
V866G |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,256,461 (GRCm39) |
R1268* |
probably null |
Het |
| Lrriq1 |
C |
T |
10: 103,023,314 (GRCm39) |
V984I |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,346,085 (GRCm39) |
V4136G |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,670,593 (GRCm39) |
E419D |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,324,518 (GRCm39) |
Y473C |
probably damaging |
Het |
| Nod2 |
G |
T |
8: 89,390,748 (GRCm39) |
D330Y |
probably damaging |
Het |
| Nt5c2 |
C |
T |
19: 46,878,360 (GRCm39) |
C458Y |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,662,976 (GRCm39) |
I681T |
probably damaging |
Het |
| Or10a5 |
C |
A |
7: 106,636,055 (GRCm39) |
S231* |
probably null |
Het |
| Papolg |
C |
T |
11: 23,817,501 (GRCm39) |
|
probably null |
Het |
| Parn |
A |
G |
16: 13,472,311 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
T |
C |
7: 101,880,598 (GRCm39) |
F42S |
probably damaging |
Het |
| Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
| Pofut2 |
G |
C |
10: 77,104,399 (GRCm39) |
R392P |
probably damaging |
Het |
| Prpf18 |
T |
C |
2: 4,648,520 (GRCm39) |
D102G |
probably damaging |
Het |
| Rreb1 |
T |
A |
13: 38,114,744 (GRCm39) |
I701N |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,052,194 (GRCm39) |
K45R |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,361,032 (GRCm39) |
|
probably null |
Het |
| Slf1 |
T |
A |
13: 77,198,106 (GRCm39) |
M723L |
probably benign |
Het |
| Spata31e5 |
A |
G |
1: 28,819,141 (GRCm39) |
S47P |
probably benign |
Het |
| Stk17b |
A |
C |
1: 53,815,717 (GRCm39) |
N27K |
probably damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,963,172 (GRCm39) |
Y295N |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 89,000,306 (GRCm39) |
V353A |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,718,749 (GRCm39) |
T2991S |
possibly damaging |
Het |
| Urb1 |
G |
A |
16: 90,548,983 (GRCm39) |
R2242* |
probably null |
Het |
| Vasp |
T |
C |
7: 18,998,697 (GRCm39) |
N20S |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
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 |
|
IGL01390:Sra1
|
APN |
18 |
36,803,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCAATAGTCTCCCTGGTG -3'
(R):5'- CCCATTGATGGCTGAATTGG -3'
Sequencing Primer
(F):5'- CCAATAGTCTCCCTGGTGGTAAAAAG -3'
(R):5'- CTGAATTGGTGGCAAGGTTTTAAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation