Incidental Mutation 'IGL02478:Sra1'
ID |
295058 |
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 # |
IGL02478
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
36800240-36803364 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36801845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 82
(S82P)
|
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: S74P
|
SMART Domains |
Protein: ENSMUSP00000006209 Gene: ENSMUSG00000006050 AA Change: S74P
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: S82P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000133360 Gene: ENSMUSG00000006050 AA Change: S82P
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
C |
A |
5: 8,856,018 (GRCm39) |
A42E |
probably damaging |
Het |
Agmo |
T |
A |
12: 37,451,985 (GRCm39) |
F247L |
probably damaging |
Het |
Arap1 |
C |
A |
7: 101,049,332 (GRCm39) |
|
probably null |
Het |
Arid1a |
T |
C |
4: 133,408,585 (GRCm39) |
D1974G |
unknown |
Het |
Asxl3 |
C |
T |
18: 22,656,070 (GRCm39) |
A1360V |
possibly damaging |
Het |
Celsr1 |
T |
A |
15: 85,825,337 (GRCm39) |
T1599S |
possibly damaging |
Het |
Chrdl2 |
T |
C |
7: 99,670,190 (GRCm39) |
|
probably null |
Het |
Csmd3 |
T |
C |
15: 47,701,794 (GRCm39) |
|
probably benign |
Het |
Dis3l |
C |
T |
9: 64,222,055 (GRCm39) |
E452K |
probably benign |
Het |
Dnajc2 |
A |
T |
5: 21,981,788 (GRCm39) |
H45Q |
probably damaging |
Het |
Eps8 |
G |
A |
6: 137,499,840 (GRCm39) |
P213L |
probably benign |
Het |
Erbb3 |
T |
A |
10: 128,407,227 (GRCm39) |
R978* |
probably null |
Het |
Exoc2 |
A |
T |
13: 31,111,403 (GRCm39) |
C142S |
probably benign |
Het |
Fam184b |
T |
C |
5: 45,695,039 (GRCm39) |
E735G |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,123,864 (GRCm39) |
V174A |
probably damaging |
Het |
Fat4 |
T |
C |
3: 38,942,364 (GRCm39) |
L419P |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,814,736 (GRCm39) |
V3490L |
probably benign |
Het |
Ftcd |
A |
T |
10: 76,417,255 (GRCm39) |
R255* |
probably null |
Het |
Galc |
T |
C |
12: 98,179,391 (GRCm39) |
N506S |
possibly damaging |
Het |
Gm20441 |
G |
T |
10: 75,608,644 (GRCm39) |
A26E |
probably damaging |
Het |
Gm21969 |
T |
G |
4: 139,367,999 (GRCm39) |
|
probably null |
Het |
Ifitm3 |
T |
A |
7: 140,589,787 (GRCm39) |
M89L |
possibly damaging |
Het |
Ift25 |
T |
A |
4: 107,132,449 (GRCm39) |
S79T |
probably benign |
Het |
Inmt |
T |
C |
6: 55,150,355 (GRCm39) |
E94G |
probably damaging |
Het |
Insrr |
G |
A |
3: 87,716,719 (GRCm39) |
G649D |
probably benign |
Het |
Ivd |
T |
C |
2: 118,692,572 (GRCm39) |
L24P |
probably benign |
Het |
Kcnc1 |
A |
G |
7: 46,084,593 (GRCm39) |
N506D |
probably benign |
Het |
Krt39 |
T |
A |
11: 99,411,723 (GRCm39) |
D121V |
probably benign |
Het |
Lcp1 |
A |
G |
14: 75,461,536 (GRCm39) |
I510V |
probably benign |
Het |
Mkx |
C |
T |
18: 7,002,418 (GRCm39) |
V43M |
probably damaging |
Het |
Mmp2 |
A |
G |
8: 93,579,235 (GRCm39) |
N108S |
possibly damaging |
Het |
Mob1b |
T |
C |
5: 88,903,947 (GRCm39) |
|
probably benign |
Het |
Morc3 |
A |
G |
16: 93,661,844 (GRCm39) |
|
probably benign |
Het |
Myh13 |
T |
G |
11: 67,260,204 (GRCm39) |
S1881A |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,558,717 (GRCm39) |
E843G |
probably benign |
Het |
Ngef |
A |
G |
1: 87,408,301 (GRCm39) |
|
probably benign |
Het |
Or14c40 |
T |
A |
7: 86,313,344 (GRCm39) |
I158N |
probably damaging |
Het |
Osm |
A |
G |
11: 4,189,507 (GRCm39) |
Y97C |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,816,792 (GRCm39) |
L4556Q |
unknown |
Het |
Pcyox1l |
T |
C |
18: 61,830,780 (GRCm39) |
D364G |
probably benign |
Het |
Plekha6 |
T |
A |
1: 133,211,031 (GRCm39) |
V467E |
probably benign |
Het |
Qrsl1 |
A |
T |
10: 43,758,158 (GRCm39) |
S312T |
probably damaging |
Het |
Ripk1 |
T |
A |
13: 34,194,572 (GRCm39) |
L70Q |
probably damaging |
Het |
Rnaseh1 |
A |
T |
12: 28,705,662 (GRCm39) |
Y162F |
probably damaging |
Het |
Ror2 |
T |
A |
13: 53,275,703 (GRCm39) |
T195S |
probably damaging |
Het |
Sh3bp2 |
T |
C |
5: 34,709,006 (GRCm39) |
L33P |
probably damaging |
Het |
Skil |
T |
A |
3: 31,151,968 (GRCm39) |
C163* |
probably null |
Het |
Slc25a37 |
A |
T |
14: 69,486,883 (GRCm39) |
N133K |
probably benign |
Het |
Slitrk3 |
A |
C |
3: 72,958,046 (GRCm39) |
V242G |
probably damaging |
Het |
Synj2 |
A |
G |
17: 6,088,199 (GRCm39) |
N1417D |
probably benign |
Het |
Tas2r122 |
A |
G |
6: 132,688,578 (GRCm39) |
V105A |
possibly damaging |
Het |
Tasor2 |
T |
C |
13: 3,624,661 (GRCm39) |
E1763G |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,018,624 (GRCm39) |
N1261S |
probably benign |
Het |
Vmn2r69 |
A |
G |
7: 85,055,889 (GRCm39) |
S750P |
probably damaging |
Het |
Wdr95 |
A |
G |
5: 149,519,786 (GRCm39) |
T568A |
probably benign |
Het |
Zfp319 |
T |
A |
8: 96,055,721 (GRCm39) |
I161F |
possibly 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 |
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 |
2015-04-16 |