Mutagenetix > Incidental Mutation

Incidental Mutation 'R0240:Ncoa3'

59288

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

038478-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0240 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

165834557-165915162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165896320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 408 (T408A)

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: T408A

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

SMART Domains

Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: T408A

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: T408A

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

SMART Domains

Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: T408A

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: ENSMUST00000153507

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (112/112)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,506,920 (GRCm39)	L71P	probably damaging	Het
Adamts2	A	T	11: 50,666,201 (GRCm39)	D399V	probably damaging	Het
Adck2	T	A	6: 39,560,752 (GRCm39)	V380E	probably benign	Het
Alg11	T	A	8: 22,555,468 (GRCm39)	V243D	possibly damaging	Het
Ankrd27	T	A	7: 35,318,864 (GRCm39)	L585Q	probably damaging	Het
Armh4	A	G	14: 50,005,859 (GRCm39)		probably benign	Het
Atp7a	T	A	X: 105,153,447 (GRCm39)	N1117K	probably damaging	Het
Bltp3a	T	A	17: 28,114,844 (GRCm39)		probably benign	Het
Cacna1b	G	A	2: 24,528,669 (GRCm39)		probably benign	Het
Cacna1d	T	A	14: 29,818,926 (GRCm39)	M1210L	probably benign	Het
Cacna1s	T	C	1: 136,001,234 (GRCm39)		probably benign	Het
Chd7	T	C	4: 8,852,670 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,559,315 (GRCm39)	S1858T	probably benign	Het
Cotl1	C	T	8: 120,567,063 (GRCm39)	W26*	probably null	Het
Csmd3	T	C	15: 47,492,635 (GRCm39)	T3000A	probably benign	Het
Dcp1a	T	A	14: 30,206,551 (GRCm39)		probably benign	Het
Ddhd2	A	T	8: 26,229,617 (GRCm39)		probably null	Het
Dnah8	T	C	17: 30,984,653 (GRCm39)	I3117T	probably damaging	Het
Dnm3	G	T	1: 162,181,194 (GRCm39)	Q162K	probably benign	Het
Dpy19l2	G	T	9: 24,569,876 (GRCm39)	A359D	probably damaging	Het
Ece1	T	A	4: 137,676,746 (GRCm39)		probably benign	Het
Eif4g3	A	G	4: 137,897,873 (GRCm39)	K1025R	probably damaging	Het
Eml2	C	A	7: 18,918,797 (GRCm39)	Y82*	probably null	Het
Eml6	A	G	11: 29,742,367 (GRCm39)	V1057A	possibly damaging	Het
Eral1	A	G	11: 77,966,884 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,220,976 (GRCm39)	S911P	probably benign	Het
Fbxo8	A	G	8: 57,043,296 (GRCm39)		probably benign	Het
Flrt1	A	T	19: 7,074,475 (GRCm39)		probably benign	Het
Fndc7	A	G	3: 108,766,235 (GRCm39)		probably benign	Het
G3bp1	G	A	11: 55,382,854 (GRCm39)	G139D	probably damaging	Het
Gabra6	C	T	11: 42,205,774 (GRCm39)	V351I	probably benign	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Ganab	A	G	19: 8,890,177 (GRCm39)	D702G	possibly damaging	Het
Hdac10	T	C	15: 89,010,085 (GRCm39)	E291G	possibly damaging	Het
Hectd3	T	G	4: 116,859,810 (GRCm39)	V749G	probably damaging	Het
Kash5	C	T	7: 44,849,675 (GRCm39)	A83T	probably benign	Het
Kcnh1	T	A	1: 192,187,648 (GRCm39)	I703N	probably benign	Het
Kcnma1	G	A	14: 23,544,647 (GRCm39)	T505I	probably damaging	Het
Kctd11	A	G	11: 69,770,640 (GRCm39)	C133R	probably damaging	Het
Lama3	A	T	18: 12,672,880 (GRCm39)		probably null	Het
Lamb3	T	C	1: 193,017,335 (GRCm39)	L842P	probably damaging	Het
Ldlr	T	C	9: 21,649,295 (GRCm39)		probably benign	Het
Lipk	G	A	19: 34,024,210 (GRCm39)	R336H	probably benign	Het
Lrrc24	T	A	15: 76,607,409 (GRCm39)	D58V	probably damaging	Het
Lrsam1	A	G	2: 32,845,197 (GRCm39)	L106P	probably damaging	Het
Milr1	G	A	11: 106,645,722 (GRCm39)	W88*	probably null	Het
Mmp10	A	G	9: 7,506,544 (GRCm39)	D340G	probably damaging	Het
Mybpc1	T	A	10: 88,391,600 (GRCm39)	Y285F	possibly damaging	Het
Nefm	T	A	14: 68,358,583 (GRCm39)	K484*	probably null	Het
Nfasc	A	G	1: 132,529,721 (GRCm39)	S814P	probably damaging	Het
Nlrp4a	T	C	7: 26,161,941 (GRCm39)	V863A	probably benign	Het
Nos1	C	T	5: 118,005,948 (GRCm39)	P223S	probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Or13c7	T	A	4: 43,854,512 (GRCm39)	S68T	probably damaging	Het
Or4c108	A	T	2: 88,803,740 (GRCm39)	L165Q	probably damaging	Het
Or5an6	A	T	19: 12,372,327 (GRCm39)	E233D	probably benign	Het
Or8k41	A	G	2: 86,313,730 (GRCm39)	S119P	possibly damaging	Het
Osbpl5	T	C	7: 143,295,406 (GRCm39)		probably null	Het
Otog	C	A	7: 45,913,456 (GRCm39)		probably null	Het
Pacs1	A	T	19: 5,206,402 (GRCm39)	I261N	possibly damaging	Het
Pbx1	G	A	1: 168,031,051 (GRCm39)	T189I	possibly damaging	Het
Pcnx1	T	C	12: 81,993,792 (GRCm39)	I908T	possibly damaging	Het
Pdxdc1	A	T	16: 13,697,309 (GRCm39)	W124R	probably damaging	Het
Phex	C	A	X: 155,969,214 (GRCm39)	D587Y	probably damaging	Het
Plcb3	A	T	19: 6,940,363 (GRCm39)	D435E	probably benign	Het
Plce1	A	C	19: 38,717,330 (GRCm39)	K1373T	probably damaging	Het
Prkcd	G	A	14: 30,324,045 (GRCm39)	A311V	probably damaging	Het
Ptpn3	A	T	4: 57,232,374 (GRCm39)	S421T	probably benign	Het
Ptprs	T	C	17: 56,743,087 (GRCm39)		probably null	Het
Qrich1	A	G	9: 108,411,333 (GRCm39)	D286G	probably damaging	Het
Rcc1	C	A	4: 132,060,226 (GRCm39)	G393V	probably damaging	Het
Reln	T	C	5: 22,311,043 (GRCm39)	N290S	probably benign	Het
Rgl1	T	C	1: 152,430,175 (GRCm39)		probably benign	Het
Rhpn1	C	T	15: 75,585,971 (GRCm39)	T628I	probably benign	Het
Rilp	A	G	11: 75,401,747 (GRCm39)	R176G	probably benign	Het
Riok3	C	T	18: 12,288,284 (GRCm39)	A487V	probably benign	Het
Rnf224	T	C	2: 25,126,219 (GRCm39)	T45A	probably damaging	Het
Rpa1	A	G	11: 75,219,513 (GRCm39)	V137A	probably benign	Het
Rps6ka1	C	A	4: 133,575,842 (GRCm39)	Q693H	probably benign	Het
Scn2a	G	T	2: 65,566,118 (GRCm39)	V1381F	probably benign	Het
Scp2	T	A	4: 107,955,275 (GRCm39)	H112L	probably benign	Het
Sdk1	T	C	5: 141,984,502 (GRCm39)	W696R	probably damaging	Het
Slc26a7	C	A	4: 14,532,651 (GRCm39)	V408F	probably damaging	Het
Slc28a2	T	A	2: 122,285,008 (GRCm39)	I332N	probably benign	Het
Slc37a3	A	G	6: 39,314,172 (GRCm39)	V480A	probably benign	Het
Slc45a4	T	A	15: 73,453,755 (GRCm39)	E674D	probably benign	Het
Smpd3	T	C	8: 106,991,788 (GRCm39)	E255G	probably damaging	Het
Snx29	C	T	16: 11,478,417 (GRCm39)	R658W	probably damaging	Het
Sppl2a	A	T	2: 126,762,256 (GRCm39)	M275K	probably benign	Het
Stac	T	C	9: 111,464,089 (GRCm39)	N59S	probably damaging	Het
Stk25	A	T	1: 93,554,782 (GRCm39)	L131Q	probably damaging	Het
Tep1	C	T	14: 51,100,486 (GRCm39)		probably benign	Het
Thbs1	C	A	2: 117,944,874 (GRCm39)	N229K	probably damaging	Het
Tmx2	A	T	2: 84,506,186 (GRCm39)	H89Q	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tradd	T	C	8: 105,985,924 (GRCm39)	N209S	possibly damaging	Het
Trappc3l	A	T	10: 33,974,928 (GRCm39)	R119*	probably null	Het
Trmt1l	G	A	1: 151,333,205 (GRCm39)		probably benign	Het
Ublcp1	G	T	11: 44,349,104 (GRCm39)	Y243*	probably null	Het
Usp24	C	A	4: 106,271,601 (GRCm39)	C2158*	probably null	Het
Usp34	A	T	11: 23,383,206 (GRCm39)	K2088N	probably damaging	Het
Vmn1r53	G	C	6: 90,200,925 (GRCm39)	S133C	probably damaging	Het
Vmn2r52	A	G	7: 9,893,327 (GRCm39)	V604A	probably damaging	Het
Vmn2r93	A	G	17: 18,525,061 (GRCm39)	K240E	probably benign	Het
Wdr13	T	G	X: 7,994,284 (GRCm39)	D242A	probably damaging	Het
Wwp1	C	T	4: 19,641,734 (GRCm39)		probably null	Het
Zan	G	A	5: 137,396,624 (GRCm39)	H4311Y	unknown	Het
Zc3h12c	C	A	9: 52,055,383 (GRCm39)	R123L	possibly damaging	Het
Zfp125	A	T	12: 20,950,562 (GRCm39)		noncoding transcript	Het
Zfp318	C	T	17: 46,707,739 (GRCm39)	P266S	probably benign	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
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
R4674:Ncoa3	UTSW	2	165,901,731 (GRCm39)	missense	probably benign
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'- TAGCCCCAGAATTGGGTTTCCCAC -3'
(R):5'- TGTTCTGCTGGTTGGGACCAAGAC -3'

Sequencing Primer
(F):5'- CTAGTGTCTGCTCCTGGACAG -3'
(R):5'- AAGACCAGGACTGCCGTG -3'

Posted On

2013-07-11