Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01068:Ncoa3'

50407

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncoa3

Ensembl Gene

ENSMUSG00000027678

Gene Name

nuclear receptor coactivator 3

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

IGL01068

Quality Score

Status

Chromosome

Chromosomal Location

165992636-166073242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166052795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 333 (S333P)

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: S333P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: S333P

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: S333P

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

SMART Domains

Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: S333P

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,504,175		probably benign	Het
Adgra1	A	G	7: 139,845,625	E18G	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Atg16l1	C	T	1: 87,774,824	S269L	probably damaging	Het
Atp8a1	A	G	5: 67,667,337	V853A	probably benign	Het
Bicral	T	C	17: 46,825,391	I298V	probably damaging	Het
Cad	A	G	5: 31,061,770		probably benign	Het
Chd9	A	T	8: 91,042,116	Y2448F	probably benign	Het
Clstn3	A	G	6: 124,462,139	L16S	probably damaging	Het
Cmtr2	G	A	8: 110,222,869	V604M	possibly damaging	Het
Ctcf	A	T	8: 105,681,485		probably benign	Het
Eif2ak2	A	G	17: 78,865,371	I295T	probably damaging	Het
Foxm1	G	A	6: 128,370,967	R284H	possibly damaging	Het
Gabra2	T	C	5: 70,962,072	I362M	probably benign	Het
Hivep1	C	A	13: 42,159,984	P1900Q	probably benign	Het
Klhl25	G	T	7: 75,866,149	E268*	probably null	Het
Klk1b16	T	C	7: 44,140,678	L124P	probably damaging	Het
Ltf	A	T	9: 111,035,812		probably null	Het
Mpped2	T	A	2: 106,864,746	H248Q	probably damaging	Het
Mrpl1	T	A	5: 96,224,036		probably benign	Het
Mthfd1l	T	A	10: 4,028,428	S429R	probably damaging	Het
Myl2	G	A	5: 122,106,704	V146I	probably benign	Het
Myo10	T	A	15: 25,739,309	I527N	possibly damaging	Het
Olfr1297	T	G	2: 111,621,340	T245P	probably damaging	Het
Olfr350	T	G	2: 36,850,270	S75A	probably damaging	Het
Oxct1	T	C	15: 4,053,764	F155S	probably damaging	Het
P4ha1	T	C	10: 59,339,335	V39A	probably damaging	Het
Padi6	G	T	4: 140,730,953	T514N	possibly damaging	Het
Pgm1	G	A	5: 64,107,796	V387I	probably damaging	Het
Ppt1	G	A	4: 122,844,007	C46Y	probably damaging	Het
Rnf225	T	C	7: 12,928,900		probably benign	Het
Rpl26	T	C	11: 68,902,398	Y42H	probably benign	Het
Rundc1	A	G	11: 101,434,142	N558S	probably damaging	Het
Sema3e	T	G	5: 14,233,718		probably null	Het
Slc8a1	T	C	17: 81,388,942	I888V	probably benign	Het
Thsd7b	T	C	1: 129,596,146	C306R	probably damaging	Het
Tmem209	A	C	6: 30,502,086	L197R	probably benign	Het
Tmem38b	T	G	4: 53,849,024	V119G	probably damaging	Het
Trpc1	T	C	9: 95,726,494	D82G	probably damaging	Het
Zfp292	A	G	4: 34,806,763	F2094L	probably damaging	Het
Zfp638	C	T	6: 83,934,994	R453W	probably damaging	Het

Other mutations in Ncoa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Ncoa3	APN	2	166051609	splice site	probably null
IGL01300:Ncoa3	APN	2	166068461	missense	probably benign	0.41
IGL01336:Ncoa3	APN	2	166054523	missense	probably benign
IGL01533:Ncoa3	APN	2	166055025	missense	probably benign	0.03
IGL01658:Ncoa3	APN	2	166051302	splice site	probably benign
IGL02053:Ncoa3	APN	2	166054834	missense	probably damaging	1.00
IGL02138:Ncoa3	APN	2	166055262	missense	probably benign
IGL02167:Ncoa3	APN	2	166070136	missense	probably damaging	1.00
IGL02217:Ncoa3	APN	2	166055346	missense	probably damaging	1.00
IGL02312:Ncoa3	APN	2	166057200	missense	probably benign	0.10
IGL02381:Ncoa3	APN	2	166052817	missense	probably damaging	1.00
IGL02568:Ncoa3	APN	2	166069357	missense	probably damaging	1.00
IGL02658:Ncoa3	APN	2	166051393	missense	probably benign	0.01
IGL02806:Ncoa3	APN	2	166052432	missense	probably benign	0.25
R0054:Ncoa3	UTSW	2	166055178	missense	possibly damaging	0.67
R0054:Ncoa3	UTSW	2	166055178	missense	possibly damaging	0.67
R0240:Ncoa3	UTSW	2	166054400	missense	probably benign
R0240:Ncoa3	UTSW	2	166054400	missense	probably benign
R0333:Ncoa3	UTSW	2	166054291	missense	probably damaging	1.00
R0379:Ncoa3	UTSW	2	166054502	missense	probably damaging	0.97
R0411:Ncoa3	UTSW	2	166068543	missense	probably benign	0.31
R0734:Ncoa3	UTSW	2	166069191	unclassified	probably benign
R1434:Ncoa3	UTSW	2	166055510	missense	probably benign	0.01
R1491:Ncoa3	UTSW	2	166055262	missense	probably benign
R1721:Ncoa3	UTSW	2	166069301	missense	possibly damaging	0.55
R1895:Ncoa3	UTSW	2	166059177	missense	possibly damaging	0.68
R1896:Ncoa3	UTSW	2	166048464	missense	probably benign	0.36
R1946:Ncoa3	UTSW	2	166059177	missense	possibly damaging	0.68
R2406:Ncoa3	UTSW	2	166055359	missense	probably damaging	1.00
R3800:Ncoa3	UTSW	2	166059719	missense	possibly damaging	0.58
R3825:Ncoa3	UTSW	2	166054798	missense	possibly damaging	0.83
R4377:Ncoa3	UTSW	2	166054497	missense	possibly damaging	0.50
R4674:Ncoa3	UTSW	2	166059811	missense	probably benign
R4706:Ncoa3	UTSW	2	166047879	missense	probably damaging	1.00
R4751:Ncoa3	UTSW	2	166069903	missense	possibly damaging	0.81
R4954:Ncoa3	UTSW	2	166065786	missense	probably benign
R4976:Ncoa3	UTSW	2	166047900	missense	probably damaging	1.00
R4992:Ncoa3	UTSW	2	166069939	missense	probably benign	0.39
R5100:Ncoa3	UTSW	2	166050097	missense	probably damaging	1.00
R5578:Ncoa3	UTSW	2	166054328	missense	probably benign	0.00
R5932:Ncoa3	UTSW	2	166070125	splice site	probably null
R6051:Ncoa3	UTSW	2	166058765	missense	probably damaging	1.00
R6370:Ncoa3	UTSW	2	166065905	missense	probably benign	0.00
R6372:Ncoa3	UTSW	2	166059347	missense	possibly damaging	0.94
R6373:Ncoa3	UTSW	2	166059347	missense	possibly damaging	0.94
R7438:Ncoa3	UTSW	2	166068529	missense	probably damaging	1.00
R7660:Ncoa3	UTSW	2	166069321	missense	probably benign	0.00
R7738:Ncoa3	UTSW	2	166050067	missense	probably damaging	1.00
R7752:Ncoa3	UTSW	2	166065768	nonsense	probably null
R7970:Ncoa3	UTSW	2	166051357	missense	probably benign	0.01
R8829:Ncoa3	UTSW	2	166050148	missense	probably damaging	1.00
R9133:Ncoa3	UTSW	2	166068461	missense	possibly damaging	0.92
R9625:Ncoa3	UTSW	2	166057210	missense	probably benign
X0018:Ncoa3	UTSW	2	166054802	missense	possibly damaging	0.58
Z1177:Ncoa3	UTSW	2	166048508	missense	probably damaging	1.00

Posted On

2013-06-21