Mutagenetix > Incidental Mutations

Incidental Mutation 'R7438:Ncoa3'

576714

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R7438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165992636-166073242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166068529 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1288 (F1288L)

Ref Sequence

ENSEMBL: ENSMUSP00000085416 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000088095
AA Change: F1288L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: F1288L

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: F1287L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: F1287L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (88/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,616,446	S425G	probably benign	Het
Adam29	A	G	8: 55,871,574	I615T	probably damaging	Het
Arap2	A	T	5: 62,749,475	I67N	probably damaging	Het
Asxl2	C	T	12: 3,427,108		probably benign	Het
Atp13a4	C	T	16: 29,441,196	G607D		Het
Atp2c2	G	A	8: 119,748,197	V514M	probably damaging	Het
Baiap3	A	G	17: 25,249,108	C311R	possibly damaging	Het
Becn1	A	C	11: 101,294,226	S137R	probably benign	Het
C1qtnf6	G	T	15: 78,525,374	T91K	probably benign	Het
C8a	T	C	4: 104,861,429	K110E	probably damaging	Het
Camta2	A	G	11: 70,683,888		probably null	Het
Capn8	T	A	1: 182,598,675	Y192N	probably damaging	Het
Ccdc170	C	T	10: 4,558,512	Q579*	probably null	Het
Cenpa	G	T	5: 30,666,948		probably benign	Het
Cltc	A	G	11: 86,725,228	V404A	probably benign	Het
Cyp3a11	A	T	5: 145,865,900	L261Q	probably benign	Het
Daw1	T	A	1: 83,192,715	S249R	probably benign	Het
Dchs1	T	A	7: 105,754,948	I2796F	probably benign	Het
Dis3l2	T	C	1: 86,745,500		probably null	Het
Dnah5	A	T	15: 28,346,952	D2527V	probably damaging	Het
Dsg4	G	A	18: 20,466,628	R767Q	probably damaging	Het
Edaradd	A	G	13: 12,478,457	I118T	probably damaging	Het
Fam60a	A	G	6: 148,933,102	Y10H	probably benign	Het
Fam83h	A	G	15: 76,004,426	F354S	possibly damaging	Het
Fat3	A	G	9: 15,988,482	V3085A	probably benign	Het
Fer	A	G	17: 64,133,521	D711G	possibly damaging	Het
G6pc	G	T	11: 101,376,677	V318F	probably benign	Het
Gal3st1	C	A	11: 3,998,227	H145N	probably benign	Het
Gm13088	T	C	4: 143,655,560	I189V	probably damaging	Het
Helz	C	T	11: 107,662,030	P1211S	probably damaging	Het
Herc1	A	G	9: 66,394,756	I667V	probably benign	Het
Herc2	T	A	7: 56,103,718		probably null	Het
Hivep1	C	T	13: 42,154,911	T209I	probably damaging	Het
Hsph1	A	G	5: 149,619,020	Y678H	probably damaging	Het
Ift122	C	T	6: 115,926,302	R1176C	probably benign	Het
Ighv1-23	T	C	12: 114,764,475	D109G	probably damaging	Het
Itgb3	T	C	11: 104,643,577	V420A	possibly damaging	Het
Kcnk13	C	A	12: 100,061,726	N353K	probably damaging	Het
Kif21a	A	G	15: 90,993,796	F270L	probably benign	Het
Kit	T	A	5: 75,639,000	V464D	probably benign	Het
Klhl36	G	A	8: 119,870,175	W205*	probably null	Het
Krt17	A	G	11: 100,258,465	Y260H	probably damaging	Het
Lats1	C	T	10: 7,712,942	Q1108*	probably null	Het
Lrch1	G	A	14: 74,757,037	T709I	possibly damaging	Het
Lrrc58	C	A	16: 37,868,691	Q66K	probably benign	Het
Mei1	G	A	15: 82,115,481	A664T		Het
Mtmr6	C	T	14: 60,300,304	T546M	probably benign	Het
Nwd1	G	T	8: 72,707,830	V1352L	probably benign	Het
Olfr1283	T	A	2: 111,369,362	H243Q	probably damaging	Het
Olfr199	A	T	16: 59,216,398	C72S	probably benign	Het
Ovol3	C	T	7: 30,235,221		probably null	Het
Palb2	C	A	7: 122,117,331	V843L	probably damaging	Het
Pds5a	T	A	5: 65,652,535		probably null	Het
Per1	A	G	11: 69,104,735	S714G	possibly damaging	Het
Plch2	G	A	4: 155,000,460	R442C	probably damaging	Het
Pon2	A	T	6: 5,289,080	S26R	probably benign	Het
Ppp1r9a	A	T	6: 5,115,378	N834Y	probably damaging	Het
Rbm46	C	T	3: 82,842,488	W483*	probably null	Het
Rnd1	A	T	15: 98,673,901	V88E	probably damaging	Het
Sbno2	T	A	10: 80,069,575	T142S	unknown	Het
Scn9a	C	T	2: 66,547,187	V384M	possibly damaging	Het
Sertad4	T	A	1: 192,846,710	H266L	possibly damaging	Het
Setd5	T	A	6: 113,115,082	M288K	possibly damaging	Het
Sfxn4	T	A	19: 60,857,361	N66Y	probably damaging	Het
Skint6	T	A	4: 113,238,228	N78I	probably damaging	Het
Sltm	G	T	9: 70,573,466	G200V	unknown	Het
Smg1	A	G	7: 118,195,893	I477T	unknown	Het
Supv3l1	C	T	10: 62,430,470		probably null	Het
Syne2	A	G	12: 76,015,563	R4220G	probably benign	Het
Tbr1	A	T	2: 61,804,817	H37L	possibly damaging	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,368,229		probably benign	Het
Tmem231	G	T	8: 111,918,408	S155R	probably damaging	Het
Trem3	A	G	17: 48,258,470	*184W	probably null	Het
Trim33	T	A	3: 103,346,640		probably benign	Het
Tsen2	G	A	6: 115,559,982	W233*	probably null	Het
Ttc21a	T	A	9: 119,945,539	N286K	probably damaging	Het
Tulp4	A	T	17: 6,198,708	M194L	probably benign	Het
Ube3b	A	C	5: 114,418,626	D1006A	probably damaging	Het
Ube3b	C	A	5: 114,415,284	R906S	possibly damaging	Het
Vipas39	A	T	12: 87,241,931		probably null	Het
Wdr35	T	A	12: 9,022,785	Y920N	probably damaging	Het
Zan	T	G	5: 137,425,562	I2692L	unknown	Het
Zfp142	C	A	1: 74,585,520	E48D	probably benign	Het
Zfp598	T	C	17: 24,677,530	Y194H	probably damaging	Het
Zfp85	T	C	13: 67,748,945	N336S	probably benign	Het
Zfyve27	A	T	19: 42,189,520		probably null	Het
Zp3	T	C	5: 135,982,705	S126P	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
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
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'- TGTGTCTCTTGGCTACCAGC -3'
(R):5'- AGTGTCCAGAGATATCACATGGG -3'

Sequencing Primer
(F):5'- GGCTTTCTTTAATGCCCAAATGG -3'
(R):5'- TGGGAACACACACTCCTTG -3'

Posted On

2019-10-07