Mutagenetix > Incidental Mutation

Incidental Mutation 'R3608:Ncoa1'

269165

Institutional Source

Beutler Lab

Gene Symbol

Ncoa1

Ensembl Gene

ENSMUSG00000020647

Gene Name

nuclear receptor coactivator 1

Synonyms

KAT13A, steroid receptor coactivator-1, SRC-a/NCoA-1, SRC1, SRC-1, bHLHe74

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4297362-4527182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4328186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 884 (N884S)

Ref Sequence

ENSEMBL: ENSMUSP00000151358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217674] [ENSMUST00000217794] [ENSMUST00000220434]

AlphaFold

P70365

Predicted Effect

probably benign
Transcript: ENSMUST00000085814
AA Change: N884S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: N884S

Domain	Start	End	E-Value	Type
HLH	29	86	1.73e-9	SMART
PAS	111	178	1.32e-10	SMART
Pfam:PAS_11	259	370	8e-37	PFAM
low complexity region	419	441	N/A	INTRINSIC
Pfam:NCOA_u2	468	591	1.3e-29	PFAM
Pfam:SRC-1	632	712	3.5e-26	PFAM
low complexity region	724	736	N/A	INTRINSIC
PDB:3RVF\|B	747	767	1e-6	PDB
low complexity region	777	785	N/A	INTRINSIC
low complexity region	869	880	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	930	977	2.3e-23	PFAM
low complexity region	1059	1080	N/A	INTRINSIC
low complexity region	1125	1137	N/A	INTRINSIC
DUF1518	1155	1211	7.47e-16	SMART
DUF1518	1218	1274	1.14e-11	SMART
low complexity region	1303	1315	N/A	INTRINSIC
low complexity region	1333	1354	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217674
AA Change: N773S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000217794
AA Change: N884S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000218191

Predicted Effect

probably benign
Transcript: ENSMUST00000220434
AA Change: N884S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show osteopenia, increased serum sex hormone levels, altered bone remodeling and skeletal responses to sex hormones, and obesity. Homozygotes for another null allele show thyroid and steroid hormone resistance, delayed Purkinje cell development, and behavioral deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B3gnt4	C	A	5: 123,648,838 (GRCm39)	R68S	probably damaging	Het
Brf1	A	G	12: 112,924,894 (GRCm39)	L610P	probably benign	Het
Cacna1e	T	A	1: 154,291,831 (GRCm39)	R1783S	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
CK137956	A	T	4: 127,845,119 (GRCm39)	I208N	probably damaging	Het
Col17a1	G	A	19: 47,668,844 (GRCm39)	L127F	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dlgap4	C	T	2: 156,590,332 (GRCm39)		probably benign	Het
Ect2l	A	T	10: 18,018,688 (GRCm39)	N619K	possibly damaging	Het
Hamp2	T	C	7: 30,623,539 (GRCm39)	T8A	probably benign	Het
Lamb1	T	A	12: 31,337,909 (GRCm39)	N407K	probably damaging	Het
Lrrc32	C	T	7: 98,148,393 (GRCm39)	T391M	probably benign	Het
Mroh2a	G	T	1: 88,172,717 (GRCm39)	A829S	probably damaging	Het
Neil1	T	C	9: 57,051,485 (GRCm39)	T278A	probably damaging	Het
Pcnx2	T	C	8: 126,614,840 (GRCm39)	T204A	probably benign	Het
Psmc3	T	A	2: 90,884,925 (GRCm39)	D30E	probably benign	Het
Rtkn	T	A	6: 83,127,016 (GRCm39)	C328S	probably damaging	Het
Speer4f2	C	A	5: 17,579,492 (GRCm39)	T97K	probably benign	Het
Srd5a2	A	G	17: 74,334,026 (GRCm39)	V131A	probably benign	Het
Tm9sf4	A	G	2: 153,020,897 (GRCm39)	H35R	probably benign	Het
Ubr2	G	T	17: 47,255,449 (GRCm39)	D1412E	probably damaging	Het
Vmn2r95	G	A	17: 18,660,235 (GRCm39)	V216I	possibly damaging	Het
Ypel1	A	T	16: 16,910,154 (GRCm39)	C126*	probably null	Het

Other mutations in Ncoa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Ncoa1	APN	12	4,328,218 (GRCm39)	missense	probably benign
IGL01335:Ncoa1	APN	12	4,347,520 (GRCm39)	missense	probably benign	0.31
IGL02111:Ncoa1	APN	12	4,324,944 (GRCm39)	start codon destroyed	probably null
IGL02863:Ncoa1	APN	12	4,347,513 (GRCm39)	missense	probably benign	0.00
IGL02967:Ncoa1	APN	12	4,345,294 (GRCm39)	missense	probably damaging	1.00
IGL03007:Ncoa1	APN	12	4,389,114 (GRCm39)	missense	possibly damaging	0.92
IGL03031:Ncoa1	APN	12	4,324,818 (GRCm39)	missense	possibly damaging	0.76
IGL03048:Ncoa1	UTSW	12	4,317,922 (GRCm39)	missense	probably damaging	0.96
IGL03147:Ncoa1	UTSW	12	4,309,342 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Ncoa1	UTSW	12	4,373,005 (GRCm39)	missense	probably benign	0.19
PIT4402001:Ncoa1	UTSW	12	4,344,987 (GRCm39)	missense	probably benign	0.00
R0002:Ncoa1	UTSW	12	4,340,885 (GRCm39)	missense	probably benign	0.00
R0011:Ncoa1	UTSW	12	4,372,896 (GRCm39)	missense	possibly damaging	0.94
R0389:Ncoa1	UTSW	12	4,345,976 (GRCm39)	missense	probably benign	0.05
R0467:Ncoa1	UTSW	12	4,317,687 (GRCm39)	missense	possibly damaging	0.49
R0480:Ncoa1	UTSW	12	4,389,105 (GRCm39)	missense	probably damaging	1.00
R0541:Ncoa1	UTSW	12	4,373,033 (GRCm39)	missense	probably damaging	1.00
R0671:Ncoa1	UTSW	12	4,299,758 (GRCm39)	splice site	probably null
R1387:Ncoa1	UTSW	12	4,324,790 (GRCm39)	missense	probably benign	0.01
R1426:Ncoa1	UTSW	12	4,320,737 (GRCm39)	splice site	probably benign
R1538:Ncoa1	UTSW	12	4,320,748 (GRCm39)	missense	possibly damaging	0.94
R1577:Ncoa1	UTSW	12	4,345,196 (GRCm39)	missense	probably damaging	0.99
R1902:Ncoa1	UTSW	12	4,389,049 (GRCm39)	missense	possibly damaging	0.78
R1905:Ncoa1	UTSW	12	4,345,433 (GRCm39)	missense	probably damaging	1.00
R2026:Ncoa1	UTSW	12	4,317,647 (GRCm39)	missense	probably benign	0.19
R2259:Ncoa1	UTSW	12	4,365,819 (GRCm39)	missense	probably damaging	1.00
R2317:Ncoa1	UTSW	12	4,325,189 (GRCm39)	missense	probably damaging	0.99
R4042:Ncoa1	UTSW	12	4,317,871 (GRCm39)	missense	probably damaging	0.99
R4688:Ncoa1	UTSW	12	4,365,781 (GRCm39)	missense	probably benign	0.26
R4763:Ncoa1	UTSW	12	4,325,297 (GRCm39)	missense	probably damaging	1.00
R4878:Ncoa1	UTSW	12	4,325,004 (GRCm39)	missense	probably damaging	1.00
R5062:Ncoa1	UTSW	12	4,309,333 (GRCm39)	missense	probably damaging	0.99
R5531:Ncoa1	UTSW	12	4,303,746 (GRCm39)	missense	probably benign
R6393:Ncoa1	UTSW	12	4,328,181 (GRCm39)	missense	probably benign	0.00
R6711:Ncoa1	UTSW	12	4,372,904 (GRCm39)	missense	probably benign	0.26
R7066:Ncoa1	UTSW	12	4,372,934 (GRCm39)	missense	possibly damaging	0.90
R7109:Ncoa1	UTSW	12	4,372,978 (GRCm39)	missense	possibly damaging	0.63
R7170:Ncoa1	UTSW	12	4,299,722 (GRCm39)	missense	probably benign	0.32
R7395:Ncoa1	UTSW	12	4,345,188 (GRCm39)	missense	not run
R7453:Ncoa1	UTSW	12	4,309,307 (GRCm39)	missense	probably damaging	1.00
R7556:Ncoa1	UTSW	12	4,320,794 (GRCm39)	missense	probably damaging	0.98
R7821:Ncoa1	UTSW	12	4,346,221 (GRCm39)	missense	probably benign	0.00
R7872:Ncoa1	UTSW	12	4,328,186 (GRCm39)	missense	probably benign	0.00
R7885:Ncoa1	UTSW	12	4,389,044 (GRCm39)	missense	probably damaging	1.00
R7936:Ncoa1	UTSW	12	4,385,873 (GRCm39)	missense	possibly damaging	0.53
R7940:Ncoa1	UTSW	12	4,363,095 (GRCm39)	missense	possibly damaging	0.50
R8126:Ncoa1	UTSW	12	4,340,951 (GRCm39)	missense	probably damaging	1.00
R8176:Ncoa1	UTSW	12	4,317,858 (GRCm39)	missense	possibly damaging	0.90
R8492:Ncoa1	UTSW	12	4,313,473 (GRCm39)	missense	probably damaging	1.00
R8510:Ncoa1	UTSW	12	4,309,303 (GRCm39)	missense	probably benign
R8772:Ncoa1	UTSW	12	4,372,940 (GRCm39)	missense	possibly damaging	0.63
R9082:Ncoa1	UTSW	12	4,346,106 (GRCm39)	missense	probably benign	0.02
R9094:Ncoa1	UTSW	12	4,345,494 (GRCm39)	missense	possibly damaging	0.86
R9238:Ncoa1	UTSW	12	4,325,177 (GRCm39)	missense	possibly damaging	0.95
R9434:Ncoa1	UTSW	12	4,365,755 (GRCm39)	missense	probably benign
R9491:Ncoa1	UTSW	12	4,340,912 (GRCm39)	missense	probably benign	0.20
R9542:Ncoa1	UTSW	12	4,325,178 (GRCm39)	missense	possibly damaging	0.57
R9625:Ncoa1	UTSW	12	4,345,643 (GRCm39)	missense	probably damaging	1.00
Z1177:Ncoa1	UTSW	12	4,356,514 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATACTCGTGCACACTGGGATC -3'
(R):5'- GCACTTTCAGAGAGCTGCTAC -3'

Sequencing Primer
(F):5'- ATCCAGTCTGGGGAGGGTAGC -3'
(R):5'- GAAATCCTGCTCTCCTGT -3'

Posted On

2015-02-19