Mutagenetix > Incidental Mutations

Incidental Mutation 'R1896:Ncoa3'

211961

Institutional Source

Beutler Lab

Gene Symbol

Ncoa3

Ensembl Gene

ENSMUSG00000027678

Gene Name

nuclear receptor coactivator 3

Synonyms

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

MMRRC Submission

039916-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R1896 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165992636-166073242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166048464 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 90 (I90N)

Ref Sequence

ENSEMBL: ENSMUSP00000104875 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000088095
AA Change: I90N

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: I90N

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: I90N

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: I90N

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: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008F13Rik	C	T	2: 156,865,332	P64S	probably damaging	Het
1810046K07Rik	A	G	9: 51,291,798	S19P	probably damaging	Het
4932438A13Rik	C	T	3: 36,908,231	Q494*	probably null	Het
Abo	C	A	2: 26,843,597	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,280,294	V277G	probably damaging	Het
Adam23	G	A	1: 63,545,572	A380T	probably benign	Het
Art2b	A	G	7: 101,580,029	V221A	probably benign	Het
Bcam	A	G	7: 19,766,715	S153P	probably damaging	Het
C1qtnf1	G	T	11: 118,443,757	G21V	probably damaging	Het
Car13	T	C	3: 14,645,175	I59T	probably benign	Het
Cep97	T	C	16: 55,927,744	N108D	probably damaging	Het
Cog3	T	A	14: 75,742,344	E182D	probably benign	Het
Endou	A	G	15: 97,712,992	Y404H	probably damaging	Het
F12	T	C	13: 55,420,727	Y373C	probably damaging	Het
Fam221b	T	C	4: 43,660,375	T405A	probably damaging	Het
Fetub	A	G	16: 22,932,295	R131G	probably damaging	Het
Foxp2	A	T	6: 15,379,768		probably benign	Het
Ggt5	T	C	10: 75,604,726	V227A	probably damaging	Het
Gipr	A	G	7: 19,164,071	S79P	probably benign	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gm13089	C	G	4: 143,698,144	G243A	probably benign	Het
Gphn	A	G	12: 78,412,354	D72G	possibly damaging	Het
Gzmk	A	G	13: 113,172,893	S208P	probably damaging	Het
Itpkc	T	C	7: 27,208,380	D633G	probably damaging	Het
Jarid2	T	C	13: 44,884,882		probably null	Het
Kif21b	C	A	1: 136,147,845	R237S	possibly damaging	Het
Lama1	G	A	17: 67,791,223	R1805H	probably benign	Het
Lpin3	C	T	2: 160,905,298	P815S	probably damaging	Het
Lrp1	T	A	10: 127,559,998	I2468F	possibly damaging	Het
Nav1	T	C	1: 135,460,737	N1118S	probably benign	Het
Notch3	T	C	17: 32,143,428	T1408A	probably benign	Het
Nwd2	A	G	5: 63,805,410	D779G	probably benign	Het
Obox6	A	T	7: 15,834,845	H35Q	possibly damaging	Het
Pkd1l3	C	A	8: 109,624,199	P559T	possibly damaging	Het
Prex1	T	A	2: 166,586,654	I716F	probably benign	Het
Psap	C	T	10: 60,295,046	Q219*	probably null	Het
Shisa5	T	A	9: 109,056,040	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,375,772	L21P	probably benign	Het
Slc4a4	A	G	5: 89,046,308	T172A	probably damaging	Het
Sned1	C	T	1: 93,265,047	P352L	probably benign	Het
Sox4	T	C	13: 28,952,144	Y293C	probably damaging	Het
Srgap3	T	A	6: 112,738,997	H654L	probably benign	Het
Stra6	A	T	9: 58,151,883	M510L	probably benign	Het
Syna	C	A	5: 134,559,152	M314I	probably benign	Het
Taf5l	A	G	8: 124,003,413	L144P	probably damaging	Het
Tll2	A	G	19: 41,113,059	F379L	probably benign	Het
Traf3ip3	A	G	1: 193,175,734	V492A	probably benign	Het
Uba2	A	G	7: 34,151,030	F364S	probably damaging	Het
Unc50	T	A	1: 37,437,242	L161Q	probably damaging	Het
Ush2a	T	C	1: 188,550,009	V1907A	probably benign	Het
Uso1	A	T	5: 92,201,133		probably null	Het
Utf1	C	A	7: 139,944,300	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,790,718	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,716,772	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,255,056	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,247,039	R335L	probably damaging	Het
Zbtb26	A	G	2: 37,436,335	S230P	possibly damaging	Het
Zfp74	A	T	7: 29,935,144	C380S	probably damaging	Het
Zfyve1	A	C	12: 83,555,614	V469G	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
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
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
X0018:Ncoa3	UTSW	2	166054802	missense	possibly damaging	0.58
Z1177:Ncoa3	UTSW	2	166048508	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGCTAGTGAGTGTTCTGC -3'
(R):5'- GGGTAGAAACTATCTCCTCATTTCC -3'

Sequencing Primer
(F):5'- AGTGAGTGTTCTGCATGTATATGTAC -3'
(R):5'- GAAACTATCTCCTCATTTCCAATCTC -3'

Posted On

2014-06-30