Mutagenetix > Incidental Mutation

Incidental Mutation 'R1895:Ncoa3'

209715

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

039915-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165834557-165915162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 165901097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 896 (N896K)

Ref Sequence

ENSEMBL: ENSMUSP00000104875 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088095
AA Change: N896K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: N896K

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

possibly damaging
Transcript: ENSMUST00000109252
AA Change: N896K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: N896K

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: ENSMUST00000139658

Meta Mutation Damage Score

0.0671

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.2%
20x: 86.6%

Validation Efficiency

96% (100/104)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,039,551 (GRCm39)	S253P	probably damaging	Het
Adgrb1	A	G	15: 74,412,314 (GRCm39)	D431G	probably damaging	Het
Adgrv1	C	T	13: 81,522,368 (GRCm39)	C5923Y	probably damaging	Het
Akr1b10	T	A	6: 34,365,805 (GRCm39)	I110N	probably damaging	Het
Apba2	T	C	7: 64,394,378 (GRCm39)		probably null	Het
Arhgef12	G	T	9: 42,917,152 (GRCm39)	Q396K	probably damaging	Het
Arpc1b	A	G	5: 145,059,443 (GRCm39)	T56A	probably null	Het
Atoh1	T	C	6: 64,706,443 (GRCm39)	V46A	probably benign	Het
AU015836	T	C	X: 93,012,985 (GRCm39)		probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Capn13	T	C	17: 73,657,520 (GRCm39)	E240G	possibly damaging	Het
Cdh8	T	C	8: 100,006,189 (GRCm39)	T133A	possibly damaging	Het
Cep295	T	C	9: 15,243,399 (GRCm39)	T1686A	possibly damaging	Het
Col4a3	A	T	1: 82,656,829 (GRCm39)	K749N	unknown	Het
Col6a3	T	A	1: 90,731,433 (GRCm39)	M1000L	probably benign	Het
Coq8b	G	A	7: 26,939,299 (GRCm39)	V150I	possibly damaging	Het
Dmxl1	G	T	18: 50,088,981 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,835,494 (GRCm39)	D990G	probably benign	Het
Dpp7	G	T	2: 25,243,691 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,973,677 (GRCm39)	N364S	possibly damaging	Het
Epb41l5	T	C	1: 119,476,902 (GRCm39)	D718G	possibly damaging	Het
F930017D23Rik	G	A	10: 43,469,440 (GRCm39)		noncoding transcript	Het
Fam20a	T	C	11: 109,564,380 (GRCm39)	K458E	probably benign	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Fut2	A	G	7: 45,300,748 (GRCm39)	F8S	probably damaging	Het
Gad2	A	T	2: 22,575,440 (GRCm39)	T515S	probably benign	Het
Glmn	T	C	5: 107,718,110 (GRCm39)	D269G	probably benign	Het
Gpatch4	A	G	3: 87,959,409 (GRCm39)	Y106C	probably damaging	Het
Grm3	A	G	5: 9,562,123 (GRCm39)	W576R	probably damaging	Het
Hdac7	T	C	15: 97,694,767 (GRCm39)	D701G	probably damaging	Het
Hectd2	T	A	19: 36,591,860 (GRCm39)	I687K	probably damaging	Het
Hmcn2	T	C	2: 31,295,647 (GRCm39)	S2619P	probably damaging	Het
Ilf3	T	A	9: 21,316,063 (GRCm39)		probably benign	Het
Kdm4b	T	A	17: 56,704,340 (GRCm39)	V272E	probably damaging	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kif11	G	A	19: 37,375,847 (GRCm39)	R220K	probably damaging	Het
Kmt2c	A	T	5: 25,520,152 (GRCm39)	V1986E	probably benign	Het
Lrp11	T	C	10: 7,499,540 (GRCm39)	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,555,159 (GRCm39)	D320V	unknown	Het
Map4k5	A	T	12: 69,892,529 (GRCm39)	D133E	probably damaging	Het
Megf11	A	T	9: 64,586,558 (GRCm39)	D461V	probably damaging	Het
Muc5b	A	C	7: 141,411,382 (GRCm39)	T1443P	unknown	Het
Mxi1	G	A	19: 53,358,775 (GRCm39)	R236H	probably benign	Het
Nav1	A	T	1: 135,386,396 (GRCm39)	W1211R	probably damaging	Het
Nmt2	T	A	2: 3,323,672 (GRCm39)	I355N	probably benign	Het
Nxpe5	T	C	5: 138,249,785 (GRCm39)	V525A	probably damaging	Het
Oas1f	A	T	5: 120,993,648 (GRCm39)	T287S	probably benign	Het
Or1n1b	A	T	2: 36,780,458 (GRCm39)	M134K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,487 (GRCm39)	S167P	probably benign	Het
Or6ae1	T	A	7: 139,742,726 (GRCm39)	I46F	possibly damaging	Het
Or7a38	T	A	10: 78,752,758 (GRCm39)	I28N	probably damaging	Het
Or8b3	T	A	9: 38,314,182 (GRCm39)	M1K	probably null	Het
Pakap	T	C	4: 57,638,068 (GRCm39)	V35A	probably benign	Het
Panx1	A	G	9: 14,918,822 (GRCm39)	C346R	probably benign	Het
Plekha7	T	C	7: 115,744,209 (GRCm39)	E764G	probably damaging	Het
Plet1	A	G	9: 50,415,652 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,489,188 (GRCm39)	S707G	probably damaging	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Pramel31	T	A	4: 144,088,435 (GRCm39)	V77E	probably benign	Het
Prob1	T	A	18: 35,785,942 (GRCm39)	T771S	possibly damaging	Het
Rasa3	A	G	8: 13,681,768 (GRCm39)		probably benign	Het
Ror2	T	C	13: 53,285,885 (GRCm39)	I110V	probably damaging	Het
Sec24d	A	T	3: 123,147,043 (GRCm39)	H667L	probably benign	Het
Sema3d	A	G	5: 12,623,810 (GRCm39)	Q573R	probably damaging	Het
Serpinb2	T	A	1: 107,452,337 (GRCm39)	V305D	probably damaging	Het
Slc11a2	G	A	15: 100,301,775 (GRCm39)	R249C	probably benign	Het
Slc14a1	T	C	18: 78,152,912 (GRCm39)	I276V	possibly damaging	Het
Snx19	T	A	9: 30,343,620 (GRCm39)	N593K	probably damaging	Het
Ssh2	C	G	11: 77,340,571 (GRCm39)	D574E	probably damaging	Het
Stil	T	C	4: 114,881,072 (GRCm39)	S539P	probably benign	Het
Syt4	T	C	18: 31,577,141 (GRCm39)	K71R	probably damaging	Het
Tenm4	A	T	7: 96,385,015 (GRCm39)	H524L	probably damaging	Het
Tex30	C	T	1: 44,130,564 (GRCm39)	G68D	probably damaging	Het
Tm4sf19	A	G	16: 32,226,500 (GRCm39)	Y138C	probably damaging	Het
Tmem43	A	T	6: 91,463,891 (GRCm39)	I389F	probably benign	Het
Trpm1	A	T	7: 63,873,556 (GRCm39)	N488Y	probably damaging	Het
Tshz1	A	T	18: 84,031,558 (GRCm39)	L950Q	probably damaging	Het
Vmn1r16	T	C	6: 57,299,885 (GRCm39)	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,272,815 (GRCm39)	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,231,133 (GRCm39)	E487K	probably 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
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
R4976:Ncoa3	UTSW	2	165,889,820 (GRCm39)	missense	probably damaging	1.00
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'- TATCCCGTTGGTTCAGAACACC -3'
(R):5'- CACCTGGCAGTCGATTAGAACG -3'

Sequencing Primer
(F):5'- GTTGGTTCAGAACACCTTTCTAAC -3'
(R):5'- CTGGCAGTCGATTAGAACGAAGTG -3'

Posted On

2014-06-30