Mutagenetix > Incidental Mutation

Incidental Mutation 'R4976:Ncoa3'

382631

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

042571-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165834557-165915162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 165889820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 68 (D68E)

Ref Sequence

ENSEMBL: ENSMUSP00000104875 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000088095
AA Change: D68E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: D68E

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 damaging
Transcript: ENSMUST00000109252
AA Change: D68E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: D68E

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 90.4%

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,387 (GRCm39)	Y113*	probably null	Het
Abcc2	C	T	19: 43,789,074 (GRCm39)	T243M	probably benign	Het
Actr6	A	T	10: 89,561,717 (GRCm39)	L143Q	probably damaging	Het
Adamts18	A	G	8: 114,425,642 (GRCm39)	Y1207H	probably benign	Het
Adamts2	A	G	11: 50,628,193 (GRCm39)	I298V	possibly damaging	Het
Adamts6	T	A	13: 104,433,998 (GRCm39)	S142R	probably damaging	Het
Adat2	A	T	10: 13,432,650 (GRCm39)	N51Y	probably damaging	Het
Alg6	G	A	4: 99,638,965 (GRCm39)		probably null	Het
Aoc3	T	A	11: 101,221,800 (GRCm39)	L12Q	probably damaging	Het
Aox3	G	A	1: 58,227,683 (GRCm39)		probably null	Het
Atp2b2	T	A	6: 113,736,122 (GRCm39)	I986F	probably damaging	Het
Axin1	G	T	17: 26,413,045 (GRCm39)	Q779H	probably benign	Het
Axin1	A	T	17: 26,413,044 (GRCm39)	Q779L	probably benign	Het
Bltp3a	T	C	17: 28,103,000 (GRCm39)	S345P	probably damaging	Het
Btaf1	T	C	19: 36,963,979 (GRCm39)	V850A	probably benign	Het
Camsap2	A	G	1: 136,232,124 (GRCm39)	V157A	probably damaging	Het
Ccdc191	T	C	16: 43,763,868 (GRCm39)	V443A	probably benign	Het
Cd1d1	T	A	3: 86,905,958 (GRCm39)	M106L	probably benign	Het
Cenpe	A	G	3: 134,940,637 (GRCm39)	D632G	probably damaging	Het
Cnih2	T	A	19: 5,143,957 (GRCm39)		probably null	Het
Crnkl1	G	T	2: 145,765,796 (GRCm39)	Q425K	possibly damaging	Het
Crnn	T	A	3: 93,055,990 (GRCm39)	S259T	probably benign	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctc1	G	T	11: 68,918,152 (GRCm39)	G425C	probably damaging	Het
Dctn4	T	A	18: 60,689,464 (GRCm39)	I445N	probably benign	Het
Dnah7a	A	T	1: 53,737,851 (GRCm39)	D27E	probably benign	Het
Dock10	A	T	1: 80,545,711 (GRCm39)		probably null	Het
Dst	A	T	1: 34,235,050 (GRCm39)	K3710*	probably null	Het
Ecel1	T	A	1: 87,078,861 (GRCm39)	Y526F	probably benign	Het
Elp6	C	T	9: 110,143,141 (GRCm39)	P118L	probably damaging	Het
Enpp2	T	A	15: 54,733,701 (GRCm39)	R420*	probably null	Het
Ep400	A	G	5: 110,846,678 (GRCm39)	F1480L	unknown	Het
Ep400	T	C	5: 110,868,622 (GRCm39)	E934G	unknown	Het
Epb41	A	C	4: 131,664,747 (GRCm39)		probably benign	Het
Epha5	A	T	5: 84,232,683 (GRCm39)	V777E	probably damaging	Het
Erp44	A	T	4: 48,208,797 (GRCm39)	M221K	probably benign	Het
Esp36	T	C	17: 38,728,177 (GRCm39)	T35A	possibly damaging	Het
Flvcr1	T	C	1: 190,757,692 (GRCm39)	Q158R	probably damaging	Het
Fsip2	A	T	2: 82,818,535 (GRCm39)	D4756V	probably damaging	Het
Fzd10	T	A	5: 128,679,178 (GRCm39)	Y299*	probably null	Het
Gabrg1	C	A	5: 70,931,754 (GRCm39)	V330L	possibly damaging	Het
Gata4	A	T	14: 63,441,138 (GRCm39)	N87K	probably damaging	Het
Gdpd3	A	T	7: 126,366,454 (GRCm39)	N97I	probably damaging	Het
Gm28042	G	A	2: 119,865,124 (GRCm39)	A250T	probably damaging	Het
Golim4	T	C	3: 75,785,950 (GRCm39)		probably null	Het
Gpr183	G	T	14: 122,192,275 (GRCm39)	T82N	possibly damaging	Het
Hsd17b4	T	C	18: 50,293,202 (GRCm39)	L247S	probably damaging	Het
Hsdl1	T	A	8: 120,292,606 (GRCm39)	Y203F	possibly damaging	Het
Igkv17-121	A	G	6: 68,014,068 (GRCm39)	K40R	probably benign	Het
Igsf3	T	A	3: 101,346,677 (GRCm39)		probably null	Het
Ints1	C	A	5: 139,738,566 (GRCm39)	G110C	probably damaging	Het
Klhdc8b	A	T	9: 108,328,386 (GRCm39)	V22E	probably damaging	Het
Kmt2d	G	A	15: 98,745,075 (GRCm39)		probably benign	Het
Kpna2	C	T	11: 106,882,295 (GRCm39)	G204S	probably damaging	Het
Ktn1	G	A	14: 47,907,756 (GRCm39)		probably null	Het
Ldah	G	A	12: 8,277,237 (GRCm39)	A58T	probably benign	Het
Lmx1a	G	T	1: 167,619,123 (GRCm39)	A161S	possibly damaging	Het
Lrig1	T	C	6: 94,602,043 (GRCm39)	Y270C	probably damaging	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Ltbp1	T	C	17: 75,628,090 (GRCm39)		probably null	Het
Luzp1	A	G	4: 136,270,708 (GRCm39)	D977G	possibly damaging	Het
Mbd4	T	C	6: 115,827,685 (GRCm39)	T43A	possibly damaging	Het
Meak7	A	C	8: 120,494,882 (GRCm39)	L292R	probably damaging	Het
Meltf	T	C	16: 31,713,532 (GRCm39)	S592P	probably benign	Het
Mrgpra4	A	G	7: 47,631,466 (GRCm39)	L45P	probably damaging	Het
Mrpl39	A	G	16: 84,531,293 (GRCm39)		probably null	Het
Myocd	T	C	11: 65,112,876 (GRCm39)	T79A	probably benign	Het
Myt1l	A	G	12: 29,882,302 (GRCm39)	E499G	unknown	Het
Ncan	C	T	8: 70,567,675 (GRCm39)	E146K	probably damaging	Het
Nt5m	T	A	11: 59,765,381 (GRCm39)	Y136*	probably null	Het
Or10h5	C	T	17: 33,434,728 (GRCm39)	A200T	probably benign	Het
Or4c12	A	T	2: 89,774,147 (GRCm39)	I104N	possibly damaging	Het
Or51m1	A	T	7: 103,578,944 (GRCm39)	I305F	probably benign	Het
Or5p66	A	C	7: 107,885,818 (GRCm39)	C172G	probably damaging	Het
Or7g21	G	A	9: 19,032,797 (GRCm39)	C179Y	probably damaging	Het
Pak6	A	T	2: 118,525,029 (GRCm39)	I552F	probably damaging	Het
Pcyox1	T	A	6: 86,365,708 (GRCm39)	K502M	probably damaging	Het
Phyhipl	A	T	10: 70,404,904 (GRCm39)	D56E	probably damaging	Het
Ppp2r2a	A	T	14: 67,254,086 (GRCm39)	S361T	possibly damaging	Het
Prim1	A	T	10: 127,851,131 (GRCm39)	D5V	probably damaging	Het
Prl7a1	A	T	13: 27,817,564 (GRCm39)	H233Q	possibly damaging	Het
Prpf40a	A	G	2: 53,034,861 (GRCm39)	F776L	probably damaging	Het
Psmb1	T	C	17: 15,718,524 (GRCm39)	M1V	probably null	Het
Reln	T	A	5: 22,176,868 (GRCm39)	N1933Y	probably benign	Het
Retsat	T	A	6: 72,578,609 (GRCm39)	M107K	probably damaging	Het
Rhbdl1	C	T	17: 26,054,002 (GRCm39)	W289*	probably null	Het
Rlf	G	A	4: 121,004,652 (GRCm39)	H1443Y	probably damaging	Het
Rpgrip1l	T	C	8: 92,007,444 (GRCm39)	E382G	probably damaging	Het
Rprd2	T	A	3: 95,673,661 (GRCm39)	T497S	probably damaging	Het
Rps6kc1	T	C	1: 190,530,924 (GRCm39)	T936A	probably damaging	Het
Scgb1b10	A	G	7: 31,800,609 (GRCm39)	Q66R	possibly damaging	Het
Scrib	C	T	15: 75,923,602 (GRCm39)		probably null	Het
Setbp1	T	A	18: 79,129,927 (GRCm39)	T102S	probably damaging	Het
Shox2	T	C	3: 66,881,008 (GRCm39)		probably benign	Het
Skp1	C	A	11: 52,134,458 (GRCm39)	T63N	probably benign	Het
Slc10a6	C	T	5: 103,754,470 (GRCm39)	V354M	probably benign	Het
Slc35f3	T	C	8: 127,116,020 (GRCm39)		probably null	Het
Slc8b1	T	A	5: 120,663,740 (GRCm39)	L320*	probably null	Het
Snap29	T	A	16: 17,237,132 (GRCm39)	L81Q	probably damaging	Het
Sorl1	A	G	9: 41,894,299 (GRCm39)	I1837T	probably benign	Het
Spmip4	T	A	6: 50,566,164 (GRCm39)		probably null	Het
Tacr3	A	G	3: 134,638,033 (GRCm39)	T397A	probably benign	Het
Tcte1	T	C	17: 45,845,854 (GRCm39)	F153L	probably damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tmprss4	A	G	9: 45,084,706 (GRCm39)	S433P	possibly damaging	Het
Tpcn1	T	C	5: 120,698,387 (GRCm39)	H45R	probably benign	Het
Vps13d	A	G	4: 144,832,468 (GRCm39)	S2813P	possibly damaging	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Zbed6	T	C	1: 133,585,832 (GRCm39)	T502A	probably benign	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	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
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
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'- AATATGGGGCGGATTCTGC -3'
(R):5'- GAACATCGGTCTTCTGCCAATTC -3'

Sequencing Primer
(F):5'- AATATGGGGCGGATTCTGCTTTAAG -3'
(R):5'- AGCTGGTCAACTCATGGGAC -3'

Posted On

2016-04-27