Incidental Mutation 'R6161:Sra1'
ID |
489897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sra1
|
Ensembl Gene |
ENSMUSG00000006050 |
Gene Name |
steroid receptor RNA activator 1 |
Synonyms |
Srap |
MMRRC Submission |
044308-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6161 (G1)
|
Quality Score |
190.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
36800240-36803364 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 36803336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 9
(A9V)
|
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: A1V
|
SMART Domains |
Protein: ENSMUSP00000006209 Gene: ENSMUSG00000006050 AA Change: A1V
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 damaging
Transcript: ENSMUST00000173875
AA Change: A9V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133360 Gene: ENSMUSG00000006050 AA Change: A9V
Domain | Start | End | E-Value | Type |
Pfam:SRA1
|
72 |
217 |
1.1e-70 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000173482
AA Change: A1V
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174125
|
Meta Mutation Damage Score |
0.3427 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
Validation Efficiency |
100% (54/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,139,934 (GRCm39) |
K1533M |
probably damaging |
Het |
Aldh1l2 |
C |
T |
10: 83,356,202 (GRCm39) |
V63I |
probably benign |
Het |
Atr |
A |
G |
9: 95,747,372 (GRCm39) |
H218R |
probably benign |
Het |
Atxn7l1 |
T |
A |
12: 33,408,662 (GRCm39) |
S275T |
possibly damaging |
Het |
Cacna1c |
T |
C |
6: 119,034,263 (GRCm39) |
K88R |
probably damaging |
Het |
Ccl7 |
T |
C |
11: 81,937,412 (GRCm39) |
Y49H |
probably damaging |
Het |
Cers5 |
A |
G |
15: 99,636,544 (GRCm39) |
|
probably null |
Het |
Chuk |
T |
C |
19: 44,071,076 (GRCm39) |
E543G |
probably damaging |
Het |
Dip2c |
T |
C |
13: 9,697,043 (GRCm39) |
V1318A |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,206,512 (GRCm39) |
H475R |
probably benign |
Het |
Fat3 |
A |
G |
9: 16,288,818 (GRCm39) |
L235P |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,211,721 (GRCm39) |
C892* |
probably null |
Het |
Fbxw8 |
T |
C |
5: 118,230,740 (GRCm39) |
T354A |
possibly damaging |
Het |
Fsip2 |
A |
C |
2: 82,817,601 (GRCm39) |
T4445P |
possibly damaging |
Het |
Gpld1 |
A |
T |
13: 25,155,397 (GRCm39) |
Q344L |
probably benign |
Het |
Hao1 |
A |
T |
2: 134,347,545 (GRCm39) |
D253E |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,246,266 (GRCm39) |
D745G |
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,793,397 (GRCm39) |
T658A |
probably benign |
Het |
Klhl35 |
A |
G |
7: 99,122,544 (GRCm39) |
|
probably benign |
Het |
Lnx2 |
C |
T |
5: 146,978,836 (GRCm39) |
|
probably null |
Het |
Map3k5 |
T |
C |
10: 19,876,321 (GRCm39) |
V160A |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,698,469 (GRCm39) |
I517F |
possibly damaging |
Het |
Mc4r |
A |
T |
18: 66,992,251 (GRCm39) |
Y287* |
probably null |
Het |
Mthfr |
A |
G |
4: 148,126,211 (GRCm39) |
D94G |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,559,114 (GRCm39) |
I2393T |
unknown |
Het |
Mybbp1a |
G |
T |
11: 72,336,838 (GRCm39) |
V557L |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,536,183 (GRCm39) |
W256R |
probably damaging |
Het |
Nacad |
G |
A |
11: 6,550,902 (GRCm39) |
S763L |
probably benign |
Het |
Nebl |
A |
G |
2: 17,735,641 (GRCm39) |
V11A |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,358,743 (GRCm39) |
C1363S |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,909,105 (GRCm39) |
N772D |
probably benign |
Het |
Nqo2 |
G |
A |
13: 34,163,634 (GRCm39) |
V98M |
probably damaging |
Het |
Pak4 |
A |
G |
7: 28,264,692 (GRCm39) |
I70T |
possibly damaging |
Het |
Pbx2 |
A |
G |
17: 34,812,574 (GRCm39) |
K2E |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,255,202 (GRCm39) |
T352A |
probably benign |
Het |
Polr1g |
G |
A |
7: 19,091,558 (GRCm39) |
T183I |
possibly damaging |
Het |
Pop1 |
T |
C |
15: 34,526,456 (GRCm39) |
Y684H |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,205,721 (GRCm39) |
V212A |
probably damaging |
Het |
Rpap2 |
A |
G |
5: 107,768,536 (GRCm39) |
E458G |
probably damaging |
Het |
Sin3a |
T |
C |
9: 57,002,708 (GRCm39) |
V200A |
possibly damaging |
Het |
Sla |
T |
C |
15: 66,654,447 (GRCm39) |
T280A |
probably null |
Het |
Slc22a26 |
A |
T |
19: 7,763,812 (GRCm39) |
I406K |
possibly damaging |
Het |
Slc24a1 |
T |
C |
9: 64,844,545 (GRCm39) |
N606S |
unknown |
Het |
Slc39a10 |
G |
A |
1: 46,866,567 (GRCm39) |
T443M |
probably damaging |
Het |
Smg1 |
A |
T |
7: 117,762,553 (GRCm39) |
|
probably benign |
Het |
Stard4 |
A |
G |
18: 33,342,109 (GRCm39) |
V47A |
probably damaging |
Het |
Stat4 |
A |
T |
1: 52,113,836 (GRCm39) |
D182V |
possibly damaging |
Het |
Syt1 |
A |
G |
10: 108,467,668 (GRCm39) |
F210L |
probably damaging |
Het |
Ube2q1 |
T |
A |
3: 89,688,667 (GRCm39) |
|
probably null |
Het |
Vmn1r159 |
C |
T |
7: 22,542,612 (GRCm39) |
C140Y |
possibly damaging |
Het |
Wnt8a |
T |
C |
18: 34,678,599 (GRCm39) |
F138L |
possibly damaging |
Het |
Zfp623 |
T |
A |
15: 75,820,470 (GRCm39) |
D475E |
probably benign |
Het |
Zfp646 |
C |
T |
7: 127,477,897 (GRCm39) |
R25W |
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 |
|
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 |
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'- CTCTTAGTAAGGGGAGTGCG -3'
(R):5'- TTTGCTTCTGAGAGCAAACAAGG -3'
Sequencing Primer
(F):5'- AGTCTGAGTCTGGAGCCCGTAG -3'
(R):5'- CTGAGAGCAAACAAGGAGACATTTAG -3'
|
Posted On |
2017-10-10 |