Mutagenetix > Incidental Mutation

Incidental Mutation 'R4674:Ncoa3'

348676

Institutional Source

Beutler Lab

Gene Symbol

Ncoa3

Ensembl Gene

ENSMUSG00000027678

Gene Name

nuclear receptor coactivator 3

Synonyms

2010305B15Rik, AIB1, KAT13B, RAC3, TRAM1, TRAM-1, bHLHe42, pCIP, Src3

MMRRC Submission

041929-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4674 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165834557-165915162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 165901731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1035 (S1035P)

Ref Sequence

ENSEMBL: ENSMUSP00000104875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088095] [ENSMUST00000109252]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088095
AA Change: S1035P

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

SMART Domains

Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: S1035P

Domain	Start	End	E-Value	Type
HLH	32	89	5.63e-9	SMART
PAS	113	179	1.16e-11	SMART
Pfam:PAS_11	261	372	1.6e-34	PFAM
Pfam:NCOA_u2	451	564	7.1e-46	PFAM
low complexity region	586	599	N/A	INTRINSIC
Pfam:SRC-1	608	696	1.6e-32	PFAM
Pfam:DUF4927	714	801	2e-32	PFAM
coiled coil region	960	997	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	1056	1104	2.1e-27	PFAM
low complexity region	1180	1197	N/A	INTRINSIC
low complexity region	1221	1233	N/A	INTRINSIC
low complexity region	1243	1263	N/A	INTRINSIC
DUF1518	1270	1327	1.08e-21	SMART
low complexity region	1384	1398	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109252
AA Change: S1035P

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

SMART Domains

Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: S1035P

Domain	Start	End	E-Value	Type
HLH	32	89	5.63e-9	SMART
PAS	113	179	1.16e-11	SMART
Pfam:PAS_11	261	372	4.1e-34	PFAM
low complexity region	438	467	N/A	INTRINSIC
low complexity region	502	522	N/A	INTRINSIC
low complexity region	527	535	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
Pfam:SRC-1	608	696	3.5e-28	PFAM
coiled coil region	960	997	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	1056	1106	6.6e-29	PFAM
low complexity region	1180	1197	N/A	INTRINSIC
low complexity region	1218	1232	N/A	INTRINSIC
low complexity region	1242	1262	N/A	INTRINSIC
DUF1518	1269	1326	1.08e-21	SMART
low complexity region	1383	1397	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139658

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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 is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010]
PHENOTYPE: Nullizygous mice exhibit growth defects and reduced serum IGF-1 levels and may show impaired proliferative responses to various factors, delayed mammary gland growth and puberty, reproductive dysfunction, susceptibility to endotoxin shock, altered lymphopoiesis, and protection against obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,860,615 (GRCm39)	I112T	probably benign	Het
Acvr1b	T	C	15: 101,100,939 (GRCm39)	I367T	possibly damaging	Het
Akr1b8	G	A	6: 34,333,359 (GRCm39)		probably null	Het
Ash1l	T	C	3: 88,979,783 (GRCm39)	V2769A	possibly damaging	Het
Asxl3	A	T	18: 22,650,795 (GRCm39)	D928V	probably damaging	Het
Atp1a4	A	T	1: 172,085,223 (GRCm39)	V66E	possibly damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Cbx2	T	A	11: 118,919,935 (GRCm39)	I500N	probably damaging	Het
Ccdc82	A	T	9: 13,252,260 (GRCm39)	H184L	probably benign	Het
Cd84	A	T	1: 171,700,887 (GRCm39)	H216L	possibly damaging	Het
Ceacam15	T	C	7: 16,407,410 (GRCm39)	T36A	probably benign	Het
Cebpd	A	G	16: 15,705,385 (GRCm39)	D66G	probably damaging	Het
Clec1b	C	A	6: 129,377,097 (GRCm39)	L47I	probably damaging	Het
Cracr2b	A	G	7: 141,043,451 (GRCm39)	D43G	probably damaging	Het
Crbn	T	A	6: 106,767,932 (GRCm39)	Q173L	possibly damaging	Het
Cspg4	T	C	9: 56,805,489 (GRCm39)	V2100A	probably damaging	Het
Cyp46a1	T	C	12: 108,324,345 (GRCm39)	L374P	probably damaging	Het
Dhx16	T	A	17: 36,196,831 (GRCm39)	V607E	probably damaging	Het
Dido1	A	G	2: 180,329,352 (GRCm39)	S357P	probably damaging	Het
Dnah6	T	A	6: 73,169,405 (GRCm39)	I399F	probably benign	Het
Dock10	T	C	1: 80,584,337 (GRCm39)	E123G	possibly damaging	Het
Dstyk	A	G	1: 132,391,128 (GRCm39)	D843G	probably benign	Het
Efcab12	C	A	6: 115,800,610 (GRCm39)	V138F	probably damaging	Het
Egf	A	G	3: 129,511,689 (GRCm39)	F493L	probably damaging	Het
Ephx1	A	G	1: 180,822,256 (GRCm39)	F220S	probably damaging	Het
Exoc6	T	C	19: 37,597,530 (GRCm39)	F644L	probably damaging	Het
F13b	A	G	1: 139,429,542 (GRCm39)	Y20C	unknown	Het
Fam184b	T	A	5: 45,740,230 (GRCm39)	K319*	probably null	Het
Flrt2	T	A	12: 95,747,462 (GRCm39)	L600*	probably null	Het
Gbgt1	T	C	2: 28,388,453 (GRCm39)	F46S	possibly damaging	Het
Gli2	T	C	1: 118,763,759 (GRCm39)	E1464G	probably damaging	Het
Hdac9	A	G	12: 34,423,959 (GRCm39)	V501A	possibly damaging	Het
Heca	T	C	10: 17,791,057 (GRCm39)	H333R	probably benign	Het
Hirip3	G	A	7: 126,463,834 (GRCm39)		probably null	Het
Igsf8	G	A	1: 172,146,479 (GRCm39)	W51*	probably null	Het
Kif21a	C	A	15: 90,824,748 (GRCm39)	R1342L	possibly damaging	Het
Krt73	T	C	15: 101,710,510 (GRCm39)	N75D	probably benign	Het
Macf1	T	A	4: 123,366,190 (GRCm39)	Y1292F	probably benign	Het
Macroh2a1	A	C	13: 56,230,997 (GRCm39)	C297G	possibly damaging	Het
Mapk14	A	G	17: 28,963,996 (GRCm39)		probably null	Het
Mgat5	T	A	1: 127,318,495 (GRCm39)	V330D	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,580,682 (GRCm39)	F188L	probably damaging	Het
Ndn	T	A	7: 61,998,570 (GRCm39)	W139R	probably damaging	Het
Nes	T	C	3: 87,879,102 (GRCm39)	V198A	possibly damaging	Het
Or4c107	G	T	2: 88,789,216 (GRCm39)	M135I	probably damaging	Het
Or4c35	A	G	2: 89,808,250 (GRCm39)	I43V	possibly damaging	Het
Or51ab3	T	G	7: 103,201,183 (GRCm39)	L64V	probably damaging	Het
Or52p1	T	A	7: 104,267,631 (GRCm39)	C248*	probably null	Het
Or5b111	T	A	19: 13,291,178 (GRCm39)	H157L	probably benign	Het
Or5p72	T	C	7: 108,022,309 (GRCm39)	V177A	possibly damaging	Het
Pcf11	G	A	7: 92,308,985 (GRCm39)		probably benign	Het
Pde1a	TCC	TC	2: 79,728,525 (GRCm39)		probably benign	Het
Pipox	T	G	11: 77,784,596 (GRCm39)	Q4P	probably benign	Het
Pla2g4c	C	T	7: 13,077,439 (GRCm39)	T327I	probably null	Het
Plppr1	C	T	4: 49,323,384 (GRCm39)	R225W	probably damaging	Het
Pnpla6	T	A	8: 3,571,412 (GRCm39)	V145D	probably damaging	Het
Pnpla7	T	C	2: 24,942,329 (GRCm39)	Y83H	probably damaging	Het
Rif1	T	A	2: 51,996,954 (GRCm39)	L970Q	probably null	Het
Rimklb	C	A	6: 122,433,242 (GRCm39)	E303*	probably null	Het
Rpl13a	A	T	7: 44,776,242 (GRCm39)		probably benign	Het
Rttn	T	A	18: 89,029,135 (GRCm39)		probably null	Het
Sf3b3	G	A	8: 111,571,137 (GRCm39)	R10W	probably damaging	Het
Skint4	G	A	4: 111,975,430 (GRCm39)	C130Y	probably damaging	Het
Snap91	A	G	9: 86,674,070 (GRCm39)	S593P	possibly damaging	Het
Ssb	A	G	2: 69,699,194 (GRCm39)	Q209R	probably benign	Het
Stap1	A	T	5: 86,229,044 (GRCm39)	I71L	probably benign	Het
Syna	C	A	5: 134,587,209 (GRCm39)	R580L	probably damaging	Het
Tacc2	T	A	7: 130,226,591 (GRCm39)	M1111K	possibly damaging	Het
Tanc2	T	C	11: 105,758,306 (GRCm39)	L689P	probably damaging	Het
Tasor2	T	C	13: 3,623,686 (GRCm39)	E1406G	possibly damaging	Het
Tcstv7b	T	C	13: 120,702,362 (GRCm39)	W53R	probably damaging	Het
Tdrd5	A	C	1: 156,105,005 (GRCm39)	C463W	probably damaging	Het
Tet1	A	G	10: 62,674,627 (GRCm39)	F1150L	probably damaging	Het
Tia1	T	A	6: 86,397,382 (GRCm39)	F118L	probably damaging	Het
Trav3-1	A	T	14: 52,818,460 (GRCm39)	T45S	possibly damaging	Het
Uaca	A	T	9: 60,761,711 (GRCm39)	Y235F	possibly damaging	Het
Ube4b	T	C	4: 149,415,827 (GRCm39)	N44S	possibly damaging	Het
Vmn2r93	T	A	17: 18,525,255 (GRCm39)	H304Q	probably benign	Het
Wdr18	A	G	10: 79,801,069 (GRCm39)	I161V	probably benign	Het
Zfp112	A	G	7: 23,826,399 (GRCm39)	H789R	probably damaging	Het
Zfp873	A	G	10: 81,895,814 (GRCm39)	T182A	possibly damaging	Het
Zscan2	T	A	7: 80,525,150 (GRCm39)	S290R	probably damaging	Het
Zup1	A	T	10: 33,824,980 (GRCm39)	D167E	possibly damaging	Het

Other mutations in Ncoa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Ncoa3	APN	2	165,893,529 (GRCm39)	splice site	probably null
IGL01068:Ncoa3	APN	2	165,894,715 (GRCm39)	missense	probably damaging	1.00
IGL01300:Ncoa3	APN	2	165,910,381 (GRCm39)	missense	probably benign	0.41
IGL01336:Ncoa3	APN	2	165,896,443 (GRCm39)	missense	probably benign
IGL01533:Ncoa3	APN	2	165,896,945 (GRCm39)	missense	probably benign	0.03
IGL01658:Ncoa3	APN	2	165,893,222 (GRCm39)	splice site	probably benign
IGL02053:Ncoa3	APN	2	165,896,754 (GRCm39)	missense	probably damaging	1.00
IGL02138:Ncoa3	APN	2	165,897,182 (GRCm39)	missense	probably benign
IGL02167:Ncoa3	APN	2	165,912,056 (GRCm39)	missense	probably damaging	1.00
IGL02217:Ncoa3	APN	2	165,897,266 (GRCm39)	missense	probably damaging	1.00
IGL02312:Ncoa3	APN	2	165,899,120 (GRCm39)	missense	probably benign	0.10
IGL02381:Ncoa3	APN	2	165,894,737 (GRCm39)	missense	probably damaging	1.00
IGL02568:Ncoa3	APN	2	165,911,277 (GRCm39)	missense	probably damaging	1.00
IGL02658:Ncoa3	APN	2	165,893,313 (GRCm39)	missense	probably benign	0.01
IGL02806:Ncoa3	APN	2	165,894,352 (GRCm39)	missense	probably benign	0.25
R0054:Ncoa3	UTSW	2	165,897,098 (GRCm39)	missense	possibly damaging	0.67
R0054:Ncoa3	UTSW	2	165,897,098 (GRCm39)	missense	possibly damaging	0.67
R0240:Ncoa3	UTSW	2	165,896,320 (GRCm39)	missense	probably benign
R0240:Ncoa3	UTSW	2	165,896,320 (GRCm39)	missense	probably benign
R0333:Ncoa3	UTSW	2	165,896,211 (GRCm39)	missense	probably damaging	1.00
R0379:Ncoa3	UTSW	2	165,896,422 (GRCm39)	missense	probably damaging	0.97
R0411:Ncoa3	UTSW	2	165,910,463 (GRCm39)	missense	probably benign	0.31
R0734:Ncoa3	UTSW	2	165,911,111 (GRCm39)	unclassified	probably benign
R1434:Ncoa3	UTSW	2	165,897,430 (GRCm39)	missense	probably benign	0.01
R1491:Ncoa3	UTSW	2	165,897,182 (GRCm39)	missense	probably benign
R1721:Ncoa3	UTSW	2	165,911,221 (GRCm39)	missense	possibly damaging	0.55
R1895:Ncoa3	UTSW	2	165,901,097 (GRCm39)	missense	possibly damaging	0.68
R1896:Ncoa3	UTSW	2	165,890,384 (GRCm39)	missense	probably benign	0.36
R1946:Ncoa3	UTSW	2	165,901,097 (GRCm39)	missense	possibly damaging	0.68
R2406:Ncoa3	UTSW	2	165,897,279 (GRCm39)	missense	probably damaging	1.00
R3800:Ncoa3	UTSW	2	165,901,639 (GRCm39)	missense	possibly damaging	0.58
R3825:Ncoa3	UTSW	2	165,896,718 (GRCm39)	missense	possibly damaging	0.83
R4377:Ncoa3	UTSW	2	165,896,417 (GRCm39)	missense	possibly damaging	0.50
R4706:Ncoa3	UTSW	2	165,889,799 (GRCm39)	missense	probably damaging	1.00
R4751:Ncoa3	UTSW	2	165,911,823 (GRCm39)	missense	possibly damaging	0.81
R4954:Ncoa3	UTSW	2	165,907,706 (GRCm39)	missense	probably benign
R4976:Ncoa3	UTSW	2	165,889,820 (GRCm39)	missense	probably damaging	1.00
R4992:Ncoa3	UTSW	2	165,911,859 (GRCm39)	missense	probably benign	0.39
R5100:Ncoa3	UTSW	2	165,892,017 (GRCm39)	missense	probably damaging	1.00
R5578:Ncoa3	UTSW	2	165,896,248 (GRCm39)	missense	probably benign	0.00
R5932:Ncoa3	UTSW	2	165,912,045 (GRCm39)	splice site	probably null
R6051:Ncoa3	UTSW	2	165,900,685 (GRCm39)	missense	probably damaging	1.00
R6370:Ncoa3	UTSW	2	165,907,825 (GRCm39)	missense	probably benign	0.00
R6372:Ncoa3	UTSW	2	165,901,267 (GRCm39)	missense	possibly damaging	0.94
R6373:Ncoa3	UTSW	2	165,901,267 (GRCm39)	missense	possibly damaging	0.94
R7438:Ncoa3	UTSW	2	165,910,449 (GRCm39)	missense	probably damaging	1.00
R7660:Ncoa3	UTSW	2	165,911,241 (GRCm39)	missense	probably benign	0.00
R7738:Ncoa3	UTSW	2	165,891,987 (GRCm39)	missense	probably damaging	1.00
R7752:Ncoa3	UTSW	2	165,907,688 (GRCm39)	nonsense	probably null
R7970:Ncoa3	UTSW	2	165,893,277 (GRCm39)	missense	probably benign	0.01
R8829:Ncoa3	UTSW	2	165,892,068 (GRCm39)	missense	probably damaging	1.00
R9133:Ncoa3	UTSW	2	165,910,381 (GRCm39)	missense	possibly damaging	0.92
R9625:Ncoa3	UTSW	2	165,899,130 (GRCm39)	missense	probably benign
X0018:Ncoa3	UTSW	2	165,896,722 (GRCm39)	missense	possibly damaging	0.58
Z1177:Ncoa3	UTSW	2	165,890,428 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTCAAATGAGTAAGCTGTCC -3'
(R):5'- GGAAGTCTTGAAGGCTGAACTG -3'

Sequencing Primer
(F):5'- GAAATTCACTCTGTAGACCAGGCTG -3'
(R):5'- AACTGTAGTTCTGCCTCCTCC -3'

Posted On

2015-10-08