Incidental Mutation 'R5729:Sra1'
ID |
452686 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sra1
|
Ensembl Gene |
ENSMUSG00000006050 |
Gene Name |
steroid receptor RNA activator 1 |
Synonyms |
Srap |
MMRRC Submission |
043346-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5729 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
36800240-36803364 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
A to T
at 36800496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 |
probably benign
Transcript: ENSMUST00000006209
|
SMART Domains |
Protein: ENSMUSP00000006209 Gene: ENSMUSG00000006050
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 |
noncoding transcript
Transcript: ENSMUST00000174125
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173875
|
SMART Domains |
Protein: ENSMUSP00000133360 Gene: ENSMUSG00000006050
Domain | Start | End | E-Value | Type |
Pfam:SRA1
|
72 |
217 |
1.1e-70 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173482
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
97% (62/64) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss2 |
A |
T |
1: 177,623,824 (GRCm39) |
V46E |
possibly damaging |
Het |
Aldoart2 |
T |
C |
12: 55,612,690 (GRCm39) |
V205A |
probably benign |
Het |
Atp1a2 |
A |
G |
1: 172,120,938 (GRCm39) |
S45P |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,411,851 (GRCm39) |
K29E |
possibly damaging |
Het |
AU040320 |
T |
A |
4: 126,724,208 (GRCm39) |
D428E |
probably damaging |
Het |
Bend7 |
T |
C |
2: 4,768,085 (GRCm39) |
L347P |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,140,037 (GRCm39) |
L9* |
probably null |
Het |
Ccdc103 |
A |
T |
11: 102,773,904 (GRCm39) |
I50F |
probably damaging |
Het |
Cdc5l |
T |
C |
17: 45,737,495 (GRCm39) |
I88V |
probably benign |
Het |
Cracr2a |
T |
C |
6: 127,584,199 (GRCm39) |
V86A |
possibly damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dgkd |
C |
T |
1: 87,864,054 (GRCm39) |
Q90* |
probably null |
Het |
Dnajc21 |
A |
T |
15: 10,449,682 (GRCm39) |
D446E |
probably benign |
Het |
Fam13a |
T |
G |
6: 58,916,292 (GRCm39) |
R648S |
probably damaging |
Het |
Gabrg2 |
A |
G |
11: 41,858,450 (GRCm39) |
V226A |
probably damaging |
Het |
Gm5499 |
A |
T |
17: 87,385,944 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Irf2bp1 |
G |
T |
7: 18,739,172 (GRCm39) |
E271* |
probably null |
Het |
Krt86 |
T |
G |
15: 101,374,429 (GRCm39) |
V274G |
probably benign |
Het |
Lats2 |
A |
T |
14: 57,960,192 (GRCm39) |
C151S |
probably benign |
Het |
Mapk3 |
A |
T |
7: 126,363,979 (GRCm39) |
T254S |
probably benign |
Het |
Mat2b |
A |
T |
11: 40,573,373 (GRCm39) |
M202K |
probably damaging |
Het |
Mos |
A |
G |
4: 3,870,971 (GRCm39) |
Y282H |
probably benign |
Het |
Myo3b |
A |
G |
2: 69,936,083 (GRCm39) |
K108R |
probably damaging |
Het |
Naa16 |
A |
G |
14: 79,593,220 (GRCm39) |
Y417H |
probably damaging |
Het |
Oat |
A |
T |
7: 132,159,984 (GRCm39) |
I412N |
probably damaging |
Het |
Or4d11 |
A |
T |
19: 12,013,272 (GRCm39) |
I278N |
probably damaging |
Het |
Pcdh1 |
A |
T |
18: 38,335,999 (GRCm39) |
V73D |
probably damaging |
Het |
Pigv |
A |
T |
4: 133,392,134 (GRCm39) |
Y345* |
probably null |
Het |
Pitpnc1 |
G |
T |
11: 107,228,264 (GRCm39) |
F34L |
probably benign |
Het |
Plxnd1 |
A |
G |
6: 115,942,838 (GRCm39) |
L1282P |
probably damaging |
Het |
Ppp1r3a |
T |
C |
6: 14,719,762 (GRCm39) |
D384G |
probably benign |
Het |
Ppp2ca |
G |
A |
11: 52,008,856 (GRCm39) |
E119K |
probably damaging |
Het |
Psg29 |
A |
T |
7: 16,944,459 (GRCm39) |
N323I |
probably damaging |
Het |
Rasa4 |
T |
C |
5: 136,122,016 (GRCm39) |
V108A |
probably benign |
Het |
Rbm14 |
A |
G |
19: 4,852,577 (GRCm39) |
|
probably benign |
Het |
Rfc1 |
A |
T |
5: 65,434,795 (GRCm39) |
V657E |
probably damaging |
Het |
Rhcg |
A |
T |
7: 79,250,371 (GRCm39) |
N237K |
probably damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,397,617 (GRCm39) |
Q1302R |
probably benign |
Het |
Rragc |
A |
G |
4: 123,818,645 (GRCm39) |
M287V |
possibly damaging |
Het |
Scn7a |
A |
G |
2: 66,572,301 (GRCm39) |
|
probably null |
Het |
Sema6a |
C |
T |
18: 47,414,410 (GRCm39) |
C506Y |
probably damaging |
Het |
Senp1 |
G |
T |
15: 97,964,412 (GRCm39) |
H267Q |
possibly damaging |
Het |
Skor2 |
A |
G |
18: 76,946,578 (GRCm39) |
E100G |
unknown |
Het |
Slc38a11 |
A |
T |
2: 65,147,365 (GRCm39) |
C371S |
probably benign |
Het |
Snai3 |
G |
A |
8: 123,181,629 (GRCm39) |
A276V |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Spag6 |
C |
T |
2: 18,720,525 (GRCm39) |
T99I |
probably benign |
Het |
Spop |
A |
G |
11: 95,376,675 (GRCm39) |
I243V |
possibly damaging |
Het |
Stag3 |
T |
A |
5: 138,288,485 (GRCm39) |
S140T |
possibly damaging |
Het |
Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
Tbc1d2b |
G |
C |
9: 90,089,925 (GRCm39) |
A868G |
probably benign |
Het |
Tead2 |
A |
G |
7: 44,870,166 (GRCm39) |
|
probably benign |
Het |
Tmem53 |
C |
A |
4: 117,125,669 (GRCm39) |
H261N |
probably damaging |
Het |
Ube4a |
A |
T |
9: 44,844,627 (GRCm39) |
S932T |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,381,339 (GRCm39) |
D827E |
probably damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,334,733 (GRCm39) |
E309G |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,758,806 (GRCm39) |
S1026G |
probably benign |
Het |
Zfp646 |
G |
A |
7: 127,484,626 (GRCm39) |
A1760T |
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 |
|
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 |
|
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'- AGTAGTGTCCATGGAGCAGG -3'
(R):5'- ACCGATCACTCATGGTTGAC -3'
Sequencing Primer
(F):5'- GACATCAGAATGGCTCATCTTTC -3'
(R):5'- TTGACCATGTGACTGAGGTC -3'
|
Posted On |
2017-01-03 |