Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Sra1'

488849

Institutional Source

Beutler Lab

Gene Symbol

Sra1

Ensembl Gene

ENSMUSG00000006050

Gene Name

steroid receptor RNA activator 1

Synonyms

Srap

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36800240-36803364 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36800628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 193 (M193T)

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: M183T

SMART Domains

Protein: ENSMUSP00000006209
Gene: ENSMUSG00000006050
AA Change: M183T

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 damaging
Transcript: ENSMUST00000173875
AA Change: M193T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133360
Gene: ENSMUSG00000006050
AA Change: M193T

Domain	Start	End	E-Value	Type
Pfam:SRA1	72	217	1.1e-70	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174125

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 85,980,664 (GRCm39)		probably null	Het
Abca8b	A	G	11: 109,864,634 (GRCm39)	V316A	probably benign	Het
Acad10	A	T	5: 121,760,096 (GRCm39)	V999D	probably damaging	Het
Acot8	A	G	2: 164,644,985 (GRCm39)	V66A	probably benign	Het
Ankrd11	T	C	8: 123,619,400 (GRCm39)	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,885,730 (GRCm39)	F405S	probably damaging	Het
Asmt	G	A	X: 169,108,398 (GRCm39)	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,114,805 (GRCm39)	V327I	probably damaging	Het
Brdt	A	G	5: 107,525,865 (GRCm39)	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,353,087 (GRCm39)	C313S	probably damaging	Het
Camk2d	T	C	3: 126,599,507 (GRCm39)	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794 (GRCm39)	H58L	probably damaging	Het
Ccdc78	C	A	17: 26,008,039 (GRCm39)	P317T	probably benign	Het
Cdc16	T	G	8: 13,817,573 (GRCm39)	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 117,321,717 (GRCm39)	N270I	probably damaging	Het
Cfap221	T	A	1: 119,912,546 (GRCm39)	I114F	possibly damaging	Het
Dmxl1	A	G	18: 50,045,833 (GRCm39)	E2414G	possibly damaging	Het
Dnaaf9	T	C	2: 130,620,393 (GRCm39)	I247V	probably benign	Het
Dnah1	C	A	14: 31,022,927 (GRCm39)	R1070L	probably benign	Het
Dnah14	T	C	1: 181,493,982 (GRCm39)	S1713P	probably benign	Het
Dock10	C	A	1: 80,553,621 (GRCm39)	G602*	probably null	Het
Ep400	A	T	5: 110,904,569 (GRCm39)	V10D	possibly damaging	Het
Epas1	T	C	17: 87,136,857 (GRCm39)	C807R	probably benign	Het
Esrrb	C	T	12: 86,552,673 (GRCm39)	P200L	probably benign	Het
Fbxw26	T	C	9: 109,561,691 (GRCm39)	I168V	probably benign	Het
Fsip2	A	T	2: 82,824,112 (GRCm39)	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,788,762 (GRCm39)	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,520,438 (GRCm39)	T43P	probably damaging	Het
Gm5134	A	T	10: 75,831,673 (GRCm39)	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,270,266 (GRCm39)	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,455,765 (GRCm39)	Y216*	probably null	Het
Grm5	T	A	7: 87,675,809 (GRCm39)	M441K	probably damaging	Het
Heatr6	A	G	11: 83,656,962 (GRCm39)	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,892,391 (GRCm39)	K201N	probably damaging	Het
Igsf10	T	A	3: 59,239,077 (GRCm39)	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,685,057 (GRCm39)	D131V	probably damaging	Het
Imp4	A	G	1: 34,479,177 (GRCm39)	E19G	probably benign	Het
Kcnk18	T	C	19: 59,224,039 (GRCm39)	*395Q	probably null	Het
Kdm6b	A	T	11: 69,295,852 (GRCm39)	L805Q	unknown	Het
Lgr4	T	A	2: 109,837,588 (GRCm39)	L427*	probably null	Het
Myt1l	G	A	12: 29,882,380 (GRCm39)	S525N	unknown	Het
Nasp	G	A	4: 116,468,274 (GRCm39)	T237I	probably benign	Het
Nell2	G	T	15: 95,371,442 (GRCm39)	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,562,455 (GRCm39)	G107R	probably damaging	Het
Nsun4	A	G	4: 115,897,403 (GRCm39)	S203P	probably damaging	Het
Or1m1	T	G	9: 18,666,865 (GRCm39)	D22A	probably benign	Het
Or7g35	T	C	9: 19,496,184 (GRCm39)	V117A	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pde10a	T	C	17: 9,147,949 (GRCm39)	V366A	probably damaging	Het
Pdxk	T	A	10: 78,279,625 (GRCm39)	D250V	probably benign	Het
Pih1d1	T	A	7: 44,808,468 (GRCm39)	I179N	probably damaging	Het
Plaa	T	A	4: 94,472,229 (GRCm39)	I294F	probably damaging	Het
Pmel	C	A	10: 128,551,804 (GRCm39)	P213T	probably damaging	Het
Pom121l2	A	T	13: 22,166,472 (GRCm39)	R248*	probably null	Het
Pou2f1	T	C	1: 165,703,002 (GRCm39)		probably benign	Het
Ppm1j	G	A	3: 104,688,695 (GRCm39)	R98H	probably damaging	Het
Prkdc	C	T	16: 15,589,937 (GRCm39)	P2600L	probably damaging	Het
Prom1	T	C	5: 44,186,991 (GRCm39)	N422S	probably benign	Het
Pspn	C	T	17: 57,306,467 (GRCm39)	C154Y	probably damaging	Het
Ptdss1	T	C	13: 67,120,701 (GRCm39)		probably null	Het
Rapgef1	A	G	2: 29,626,678 (GRCm39)	Y993C	probably damaging	Het
Scrn2	A	C	11: 96,923,679 (GRCm39)	T219P	probably benign	Het
Sec23ip	T	G	7: 128,380,208 (GRCm39)	S874R	probably damaging	Het
Septin4	G	A	11: 87,476,072 (GRCm39)		probably null	Het
Slc15a3	C	T	19: 10,834,615 (GRCm39)	L499F	probably damaging	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Srsf4	G	T	4: 131,627,605 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,002,750 (GRCm39)	D8055G	probably damaging	Het
Syne4	T	A	7: 30,015,988 (GRCm39)		probably null	Het
Tbc1d24	C	A	17: 24,427,203 (GRCm39)	G253V	probably damaging	Het
Tbck	T	A	3: 132,437,976 (GRCm39)	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030 (GRCm39)	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,619,031 (GRCm39)	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,214,072 (GRCm39)	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,283,113 (GRCm39)	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,314,364 (GRCm39)	F206L	probably benign	Het
Zfp346	A	G	13: 55,263,387 (GRCm39)	K156R	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
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'- ACCAATAGTCTCCCTGGTGG -3'
(R):5'- TCCCATTGATGGCTGAATTGG -3'

Sequencing Primer
(F):5'- CCAATAGTCTCCCTGGTGGTAAAAAG -3'
(R):5'- CTGAATTGGTGGCAAGGTTTTAAC -3'

Posted On

2017-10-10