Mutagenetix > Incidental Mutation

Incidental Mutation 'R7438:Ncoa3'

576714

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

045514-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R7438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165834557-165915162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 165910449 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 118,853,858 (GRCm39)	S425G	probably benign	Het
Adam29	A	G	8: 56,324,609 (GRCm39)	I615T	probably damaging	Het
Arap2	A	T	5: 62,906,818 (GRCm39)	I67N	probably damaging	Het
Asxl2	C	T	12: 3,477,108 (GRCm39)		probably benign	Het
Atp13a4	C	T	16: 29,260,014 (GRCm39)	G607D		Het
Atp2c2	G	A	8: 120,474,936 (GRCm39)	V514M	probably damaging	Het
Baiap3	A	G	17: 25,468,082 (GRCm39)	C311R	possibly damaging	Het
Becn1	A	C	11: 101,185,052 (GRCm39)	S137R	probably benign	Het
C1qtnf6	G	T	15: 78,409,574 (GRCm39)	T91K	probably benign	Het
C8a	T	C	4: 104,718,626 (GRCm39)	K110E	probably damaging	Het
Camta2	A	G	11: 70,574,714 (GRCm39)		probably null	Het
Capn8	T	A	1: 182,426,240 (GRCm39)	Y192N	probably damaging	Het
Ccdc170	C	T	10: 4,508,512 (GRCm39)	Q579*	probably null	Het
Cenpa	G	T	5: 30,824,292 (GRCm39)		probably benign	Het
Cltc	A	G	11: 86,616,054 (GRCm39)	V404A	probably benign	Het
Cyp3a11	A	T	5: 145,802,710 (GRCm39)	L261Q	probably benign	Het
Daw1	T	A	1: 83,170,436 (GRCm39)	S249R	probably benign	Het
Dchs1	T	A	7: 105,404,155 (GRCm39)	I2796F	probably benign	Het
Dis3l2	T	C	1: 86,673,222 (GRCm39)		probably null	Het
Dnah5	A	T	15: 28,347,098 (GRCm39)	D2527V	probably damaging	Het
Dsg4	G	A	18: 20,599,685 (GRCm39)	R767Q	probably damaging	Het
Edaradd	A	G	13: 12,493,338 (GRCm39)	I118T	probably damaging	Het
Fam83h	A	G	15: 75,876,275 (GRCm39)	F354S	possibly damaging	Het
Fat3	A	G	9: 15,899,778 (GRCm39)	V3085A	probably benign	Het
Fer	A	G	17: 64,440,516 (GRCm39)	D711G	possibly damaging	Het
G6pc1	G	T	11: 101,267,503 (GRCm39)	V318F	probably benign	Het
Gal3st1	C	A	11: 3,948,227 (GRCm39)	H145N	probably benign	Het
Helz	C	T	11: 107,552,856 (GRCm39)	P1211S	probably damaging	Het
Herc1	A	G	9: 66,302,038 (GRCm39)	I667V	probably benign	Het
Herc2	T	A	7: 55,753,466 (GRCm39)		probably null	Het
Hivep1	C	T	13: 42,308,387 (GRCm39)	T209I	probably damaging	Het
Hsph1	A	G	5: 149,542,485 (GRCm39)	Y678H	probably damaging	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ighv1-23	T	C	12: 114,728,095 (GRCm39)	D109G	probably damaging	Het
Itgb3	T	C	11: 104,534,403 (GRCm39)	V420A	possibly damaging	Het
Kcnk13	C	A	12: 100,027,985 (GRCm39)	N353K	probably damaging	Het
Kif21a	A	G	15: 90,877,999 (GRCm39)	F270L	probably benign	Het
Kit	T	A	5: 75,799,660 (GRCm39)	V464D	probably benign	Het
Klhl36	G	A	8: 120,596,914 (GRCm39)	W205*	probably null	Het
Krt17	A	G	11: 100,149,291 (GRCm39)	Y260H	probably damaging	Het
Lats1	C	T	10: 7,588,706 (GRCm39)	Q1108*	probably null	Het
Lrch1	G	A	14: 74,994,477 (GRCm39)	T709I	possibly damaging	Het
Lrrc58	C	A	16: 37,689,053 (GRCm39)	Q66K	probably benign	Het
Mei1	G	A	15: 81,999,682 (GRCm39)	A664T		Het
Mtmr6	C	T	14: 60,537,753 (GRCm39)	T546M	probably benign	Het
Nwd1	G	T	8: 73,434,458 (GRCm39)	V1352L	probably benign	Het
Or4k77	T	A	2: 111,199,707 (GRCm39)	H243Q	probably damaging	Het
Or5ac17	A	T	16: 59,036,761 (GRCm39)	C72S	probably benign	Het
Ovol3	C	T	7: 29,934,646 (GRCm39)		probably null	Het
Palb2	C	A	7: 121,716,554 (GRCm39)	V843L	probably damaging	Het
Pds5a	T	A	5: 65,809,878 (GRCm39)		probably null	Het
Per1	A	G	11: 68,995,561 (GRCm39)	S714G	possibly damaging	Het
Plch2	G	A	4: 155,084,917 (GRCm39)	R442C	probably damaging	Het
Pon2	A	T	6: 5,289,080 (GRCm39)	S26R	probably benign	Het
Ppp1r9a	A	T	6: 5,115,378 (GRCm39)	N834Y	probably damaging	Het
Pramel22	T	C	4: 143,382,130 (GRCm39)	I189V	probably damaging	Het
Rbm46	C	T	3: 82,749,795 (GRCm39)	W483*	probably null	Het
Rnd1	A	T	15: 98,571,782 (GRCm39)	V88E	probably damaging	Het
Sbno2	T	A	10: 79,905,409 (GRCm39)	T142S	unknown	Het
Scn9a	C	T	2: 66,377,531 (GRCm39)	V384M	possibly damaging	Het
Sertad4	T	A	1: 192,529,018 (GRCm39)	H266L	possibly damaging	Het
Setd5	T	A	6: 113,092,043 (GRCm39)	M288K	possibly damaging	Het
Sfxn4	T	A	19: 60,845,799 (GRCm39)	N66Y	probably damaging	Het
Sinhcaf	A	G	6: 148,834,600 (GRCm39)	Y10H	probably benign	Het
Skint6	T	A	4: 113,095,425 (GRCm39)	N78I	probably damaging	Het
Sltm	G	T	9: 70,480,748 (GRCm39)	G200V	unknown	Het
Smg1	A	G	7: 117,795,116 (GRCm39)	I477T	unknown	Het
Supv3l1	C	T	10: 62,266,249 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,062,337 (GRCm39)	R4220G	probably benign	Het
Tbr1	A	T	2: 61,635,161 (GRCm39)	H37L	possibly damaging	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,345,211 (GRCm39)		probably benign	Het
Tmem231	G	T	8: 112,645,040 (GRCm39)	S155R	probably damaging	Het
Trem3	A	G	17: 48,565,498 (GRCm39)	*184W	probably null	Het
Trim33	T	A	3: 103,253,956 (GRCm39)		probably benign	Het
Tsen2	G	A	6: 115,536,943 (GRCm39)	W233*	probably null	Het
Ttc21a	T	A	9: 119,774,605 (GRCm39)	N286K	probably damaging	Het
Tulp4	A	T	17: 6,248,983 (GRCm39)	M194L	probably benign	Het
Ube3b	C	A	5: 114,553,345 (GRCm39)	R906S	possibly damaging	Het
Ube3b	A	C	5: 114,556,687 (GRCm39)	D1006A	probably damaging	Het
Vipas39	A	T	12: 87,288,705 (GRCm39)		probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Zan	T	G	5: 137,423,824 (GRCm39)	I2692L	unknown	Het
Zfp142	C	A	1: 74,624,679 (GRCm39)	E48D	probably benign	Het
Zfp598	T	C	17: 24,896,504 (GRCm39)	Y194H	probably damaging	Het
Zfp85	T	C	13: 67,897,064 (GRCm39)	N336S	probably benign	Het
Zfyve27	A	T	19: 42,177,959 (GRCm39)		probably null	Het
Zp3	T	C	5: 136,011,559 (GRCm39)	S126P	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
R1895:Ncoa3	UTSW	2	165,901,097 (GRCm39)	missense	possibly damaging	0.68
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
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'- TGTGTCTCTTGGCTACCAGC -3'
(R):5'- AGTGTCCAGAGATATCACATGGG -3'

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

Posted On

2019-10-07