Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02167:Ncoa3'

282752

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

Is this an essential gene?

Probably essential (E-score: 0.937) question?

Stock #

IGL02167

Quality Score

Status

Chromosome

Chromosomal Location

165992636-166073242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166070136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1401 (Y1401C)

Ref Sequence

ENSEMBL: ENSMUSP00000104875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088086] [ENSMUST00000088095] [ENSMUST00000109249] [ENSMUST00000109252] [ENSMUST00000146497]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088086

SMART Domains

Protein: ENSMUSP00000085405
Gene: ENSMUSG00000006800

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Sulfatase	44	375	2.8e-50	PFAM
low complexity region	512	523	N/A	INTRINSIC
Pfam:DUF3740	533	669	5.6e-47	PFAM
low complexity region	702	720	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000088095
AA Change: Y1402C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: Y1402C

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: ENSMUST00000109249

SMART Domains

Protein: ENSMUSP00000104872
Gene: ENSMUSG00000006800

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Sulfatase	44	375	2.8e-50	PFAM
low complexity region	512	523	N/A	INTRINSIC
Pfam:DUF3740	532	670	1.3e-46	PFAM
low complexity region	702	720	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109252
AA Change: Y1401C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: Y1401C

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: ENSMUST00000125503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143996

Predicted Effect

probably benign
Transcript: ENSMUST00000146497

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,122,722		probably benign	Het
Cacna1f	T	C	X: 7,616,019	Y581H	probably damaging	Het
Camsap1	C	T	2: 25,934,300	R1416H	probably damaging	Het
Ccdc117	T	C	11: 5,531,333	E266G	possibly damaging	Het
Ccdc9	A	T	7: 16,284,359	L8*	probably null	Het
Cited2	T	C	10: 17,724,270	S109P	probably benign	Het
Cnot4	T	C	6: 35,056,224	D286G	possibly damaging	Het
Col5a1	T	C	2: 28,018,556	I52T	probably benign	Het
Cry2	T	C	2: 92,433,821	N68S	possibly damaging	Het
Cul4a	T	C	8: 13,122,826	F153S	probably damaging	Het
Ddr1	T	C	17: 35,690,071	S261G	possibly damaging	Het
Depdc5	G	A	5: 32,903,801	R324Q	probably damaging	Het
Dmgdh	A	G	13: 93,720,627		probably benign	Het
Epha8	A	T	4: 136,931,094	M990K	probably damaging	Het
Gpr137c	G	T	14: 45,279,955	G383C	probably damaging	Het
Hydin	T	A	8: 110,418,423	I802N	possibly damaging	Het
Ifne	A	G	4: 88,879,828	Y118H	possibly damaging	Het
Kansl2	T	C	15: 98,533,515		probably benign	Het
Lig4	T	A	8: 9,971,821	N653I	probably benign	Het
Nagk	A	G	6: 83,801,106	D246G	probably damaging	Het
Nav1	A	G	1: 135,470,961	S628P	probably damaging	Het
Ndufa9	A	G	6: 126,844,785		probably benign	Het
Nynrin	G	T	14: 55,863,335	R194L	probably damaging	Het
Olfr1115	G	A	2: 87,252,198	C87Y	probably benign	Het
Olfr17	A	T	7: 107,097,661	R65S	probably benign	Het
Olfr45	T	A	7: 140,691,751	V282D	probably damaging	Het
Orc2	A	T	1: 58,483,639		probably benign	Het
Oxgr1	T	A	14: 120,021,930	R288S	probably damaging	Het
Prkcg	T	C	7: 3,322,581		probably null	Het
Prox1	T	C	1: 190,161,280	N323D	probably benign	Het
Prrt1	A	C	17: 34,631,855	E215A	possibly damaging	Het
Rab2b	T	C	14: 52,268,696	D103G	probably damaging	Het
Sardh	G	T	2: 27,191,975	N846K	probably damaging	Het
Slc38a8	T	A	8: 119,487,360	T248S	probably benign	Het
Slc6a18	T	C	13: 73,666,472		probably null	Het
Smcp	T	C	3: 92,584,199	T114A	unknown	Het
Tmem8	T	C	17: 26,119,071	S450P	probably damaging	Het
Trpv1	A	G	11: 73,254,797	N754D	probably damaging	Het
Txnrd1	A	T	10: 82,881,911	H243L	probably benign	Het
Wdfy3	T	C	5: 101,961,157	M125V	probably damaging	Het
Wnk2	T	C	13: 49,071,125		probably null	Het
Wrn	T	C	8: 33,317,555	M292V	probably damaging	Het
Zbtb17	T	C	4: 141,461,829	L20P	possibly damaging	Het
Zfp608	T	C	18: 54,988,224	H97R	probably damaging	Het
Zfp68	T	A	5: 138,606,367	M565L	probably benign	Het
Zfp687	T	C	3: 95,010,530	T644A	probably benign	Het
Zfp777	C	T	6: 48,044,526	G54D	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
IGL01068:Ncoa3	APN	2	166052795	missense	probably damaging	1.00
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
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
X0018:Ncoa3	UTSW	2	166054802	missense	possibly damaging	0.58
Z1177:Ncoa3	UTSW	2	166048508	missense	probably damaging	1.00

Posted On

2015-04-16