Incidental Mutation 'IGL01645:Sra1'
| ID |
102637 |
| 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 # |
IGL01645
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36800240-36803364 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 36804526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 476
(F476C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001415]
[ENSMUST00000173875]
|
| AlphaFold |
Q80VJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001415
AA Change: F476C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001415
Gene: ENSMUSG00000006050
AA Change: F476C
| 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 |
noncoding transcript
Transcript: ENSMUST00000173202
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173482
|
| 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 |
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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
T |
7: 45,764,477 (GRCm39) |
C1156Y |
possibly damaging |
Het |
| Armh4 |
T |
C |
14: 50,011,011 (GRCm39) |
E232G |
probably damaging |
Het |
| Atp8b1 |
G |
A |
18: 64,679,184 (GRCm39) |
H766Y |
probably benign |
Het |
| Cacna2d1 |
C |
A |
5: 16,217,389 (GRCm39) |
|
probably null |
Het |
| Card11 |
T |
A |
5: 140,863,778 (GRCm39) |
T987S |
probably benign |
Het |
| Dennd2b |
T |
A |
7: 109,126,841 (GRCm39) |
K540* |
probably null |
Het |
| Dmxl2 |
A |
T |
9: 54,286,017 (GRCm39) |
Y2723N |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 118,150,733 (GRCm39) |
I342F |
possibly damaging |
Het |
| Dnajc10 |
A |
G |
2: 80,170,871 (GRCm39) |
H454R |
possibly damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,394,763 (GRCm39) |
T592A |
probably benign |
Het |
| Eea1 |
T |
A |
10: 95,825,451 (GRCm39) |
S49T |
probably damaging |
Het |
| Esd |
T |
A |
14: 74,987,159 (GRCm39) |
N294K |
probably benign |
Het |
| Fmo3 |
A |
G |
1: 162,791,575 (GRCm39) |
V234A |
possibly damaging |
Het |
| Folh1 |
A |
G |
7: 86,391,435 (GRCm39) |
F420L |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,026,389 (GRCm39) |
N301S |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,126,069 (GRCm39) |
|
noncoding transcript |
Het |
| Gorab |
A |
T |
1: 163,214,000 (GRCm39) |
L310Q |
possibly damaging |
Het |
| Gsdme |
A |
G |
6: 50,228,316 (GRCm39) |
Y51H |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,012 (GRCm39) |
L96P |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,450,560 (GRCm39) |
I1964T |
possibly damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,440,053 (GRCm39) |
L410P |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,395,090 (GRCm39) |
R112G |
probably benign |
Het |
| Mrgpra6 |
T |
C |
7: 46,835,681 (GRCm39) |
T247A |
probably benign |
Het |
| Mroh4 |
A |
G |
15: 74,483,207 (GRCm39) |
|
probably benign |
Het |
| Mycbpap |
T |
C |
11: 94,394,293 (GRCm39) |
|
probably null |
Het |
| Myoz2 |
T |
A |
3: 122,827,881 (GRCm39) |
K12N |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,268,491 (GRCm39) |
S343G |
probably benign |
Het |
| Or1d2 |
T |
C |
11: 74,256,359 (GRCm39) |
I288T |
possibly damaging |
Het |
| P3h1 |
T |
G |
4: 119,093,980 (GRCm39) |
F212V |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,614,656 (GRCm39) |
D265G |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,361,934 (GRCm39) |
T992I |
possibly damaging |
Het |
| Prss58 |
T |
C |
6: 40,874,244 (GRCm39) |
D144G |
probably damaging |
Het |
| Pth2 |
T |
A |
7: 44,830,764 (GRCm39) |
L29Q |
possibly damaging |
Het |
| Rab1b |
A |
C |
19: 5,154,962 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,464,834 (GRCm39) |
C190* |
probably null |
Het |
| Scn9a |
T |
C |
2: 66,317,986 (GRCm39) |
K1501E |
possibly damaging |
Het |
| Selenoi |
A |
G |
5: 30,462,821 (GRCm39) |
|
probably benign |
Het |
| Slc11a2 |
T |
C |
15: 100,286,999 (GRCm39) |
N558S |
probably benign |
Het |
| Sox10 |
T |
C |
15: 79,040,539 (GRCm39) |
I173V |
probably benign |
Het |
| Tmem119 |
T |
A |
5: 113,933,409 (GRCm39) |
K131* |
probably null |
Het |
| Trim12c |
T |
A |
7: 103,994,261 (GRCm39) |
K198* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,681,904 (GRCm39) |
|
probably benign |
Het |
| Unc119b |
C |
T |
5: 115,265,371 (GRCm39) |
V154I |
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,654,069 (GRCm39) |
S108R |
probably damaging |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,547 (GRCm39) |
C138* |
probably null |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,614 (GRCm39) |
I47V |
probably benign |
Het |
| Wnt3 |
C |
T |
11: 103,703,204 (GRCm39) |
A229V |
probably benign |
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 |
|
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 |
2014-01-21 |
Incidental Mutation