Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Ncoa1'

243672

Institutional Source

Beutler Lab

Gene Symbol

Ncoa1

Ensembl Gene

ENSMUSG00000020647

Gene Name

nuclear receptor coactivator 1

Synonyms

bHLHe74, SRC-a/NCoA-1, KAT13A, SRC-1, SRC1, steroid receptor coactivator-1

MMRRC Submission

040259-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4247362-4477182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 4315819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 82 (H82Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217674] [ENSMUST00000217794] [ENSMUST00000219275] [ENSMUST00000220434]

AlphaFold

P70365

Predicted Effect

probably damaging
Transcript: ENSMUST00000085814
AA Change: H193Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: H193Q

Domain	Start	End	E-Value	Type
HLH	29	86	1.73e-9	SMART
PAS	111	178	1.32e-10	SMART
Pfam:PAS_11	259	370	8e-37	PFAM
low complexity region	419	441	N/A	INTRINSIC
Pfam:NCOA_u2	468	591	1.3e-29	PFAM
Pfam:SRC-1	632	712	3.5e-26	PFAM
low complexity region	724	736	N/A	INTRINSIC
PDB:3RVF\|B	747	767	1e-6	PDB
low complexity region	777	785	N/A	INTRINSIC
low complexity region	869	880	N/A	INTRINSIC
Pfam:Nuc_rec_co-act	930	977	2.3e-23	PFAM
low complexity region	1059	1080	N/A	INTRINSIC
low complexity region	1125	1137	N/A	INTRINSIC
DUF1518	1155	1211	7.47e-16	SMART
DUF1518	1218	1274	1.14e-11	SMART
low complexity region	1303	1315	N/A	INTRINSIC
low complexity region	1333	1354	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000217674
AA Change: H82Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217794
AA Change: H193Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000219275

Predicted Effect

probably damaging
Transcript: ENSMUST00000220434
AA Change: H193Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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 acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show osteopenia, increased serum sex hormone levels, altered bone remodeling and skeletal responses to sex hormones, and obesity. Homozygotes for another null allele show thyroid and steroid hormone resistance, delayed Purkinje cell development, and behavioral deficits. [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
Adgrd1	T	G	5: 129,112,311	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,476,342	N247T	probably damaging	Het
Atp10b	A	G	11: 43,172,745	D169G	probably damaging	Het
Atp10b	G	A	11: 43,189,613	V239M	probably damaging	Het
Cflar	C	T	1: 58,729,121	T121I	probably benign	Het
Clca3b	T	C	3: 144,846,381	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,335,272	I62N	probably damaging	Het
Col11a2	A	G	17: 34,039,677	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,309,035	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,204,711	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,197,586	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,844,977		probably null	Het
Dlg4	T	C	11: 70,031,370	I143T	probably damaging	Het
E2f7	T	G	10: 110,746,343	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,245,308	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,455,783	I1017L	probably damaging	Het
Eln	C	A	5: 134,729,654	A126S	unknown	Het
Exoc7	T	C	11: 116,306,411	S35G	probably damaging	Het
Fam187a	A	G	11: 102,885,298		probably benign	Het
Fam196a	T	A	7: 134,917,667	E378V	probably damaging	Het
Fkbp6	C	T	5: 135,337,614		probably null	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Fmn2	T	A	1: 174,502,932	L296H	unknown	Het
Galnt14	C	A	17: 73,494,266	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107	C396R	probably benign	Het
Gigyf1	C	A	5: 137,520,332	A215E	possibly damaging	Het
Glb1	C	T	9: 114,443,032	Q246*	probably null	Het
Gm11565	T	G	11: 99,915,018	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,896,295	Y172C	probably damaging	Het
Ift52	A	G	2: 163,028,093	N159S	probably benign	Het
Insrr	A	G	3: 87,800,452	D67G	probably damaging	Het
Irf2	A	G	8: 46,837,833	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,841,314	H187R	probably damaging	Het
Kdm2b	C	T	5: 122,882,416	G90S	probably damaging	Het
Kif7	C	T	7: 79,711,589	G118D	probably damaging	Het
Klhl38	G	C	15: 58,314,978	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,881,142		probably benign	Het
Lama2	A	G	10: 27,031,127	L2346S	probably benign	Het
Marveld2	A	G	13: 100,612,470	S34P	probably benign	Het
Mettl7a1	A	T	15: 100,313,168	I174F	probably benign	Het
Mllt6	T	C	11: 97,664,976	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,791,008	N72S	probably benign	Het
Myo7a	T	G	7: 98,069,499	D1388A	probably damaging	Het
Ncapd3	A	G	9: 27,056,072	D568G	probably benign	Het
Npbwr1	C	A	1: 5,916,658	L212F	probably damaging	Het
Nptx1	T	G	11: 119,543,316	I315L	probably benign	Het
Npy2r	G	T	3: 82,541,354	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,535,029	D24E	probably damaging	Het
Olfr1350	A	T	7: 6,570,023	I11F	probably damaging	Het
Olfr295	T	A	7: 86,585,884	V203D	possibly damaging	Het
Olfr933	T	C	9: 38,976,000	V108A	probably benign	Het
Pde2a	A	T	7: 101,484,567	D85V	probably damaging	Het
Phf3	A	G	1: 30,804,343	V1845A	probably benign	Het
Plch1	T	A	3: 63,697,977	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,541,484		probably benign	Het
Polq	T	C	16: 37,062,097	V1541A	probably benign	Het
Psmd3	T	A	11: 98,690,964	M305K	probably benign	Het
Pura	T	C	18: 36,287,750	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 185,221,859	W43R	probably damaging	Het
Repin1	A	G	6: 48,596,530	Q128R	probably benign	Het
Rnf208	G	A	2: 25,243,644	V117I	probably damaging	Het
Rpe65	A	G	3: 159,615,571	Y340C	probably damaging	Het
Ryr1	C	A	7: 29,019,741	V4414L	unknown	Het
Sephs2	T	C	7: 127,273,477	E148G	possibly damaging	Het
Spns2	T	A	11: 72,457,268	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,943,916	P1090S	probably benign	Het
Tasp1	A	T	2: 139,951,506	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,591,430	I664T	possibly damaging	Het
Tg	T	C	15: 66,683,898	V813A	probably benign	Het
Tmem132c	T	C	5: 127,504,924	L401P	probably benign	Het
Tmem138	T	C	19: 10,571,603	N101S	probably benign	Het
Tmem242	G	T	17: 5,433,470	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,774,164	R277H	probably benign	Het
Tnni3	T	A	7: 4,519,406	I182F	probably benign	Het
Trim30a	T	A	7: 104,411,504	D355V	probably damaging	Het
Trim35	C	T	14: 66,309,262	R493*	probably null	Het
Trip10	G	C	17: 57,255,135	V254L	probably benign	Het
Tshz2	A	T	2: 169,886,406	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,128,184	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,917,799	M237K	probably benign	Het
Usp8	A	G	2: 126,758,568	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,940,911	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,953,860	N2891S	probably benign	Het
Xpo5	C	T	17: 46,240,896	Q1050*	probably null	Het
Zfp407	G	T	18: 84,209,793	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,900,633	R2188*	probably null	Het

Other mutations in Ncoa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Ncoa1	APN	12	4278218	missense	probably benign
IGL01335:Ncoa1	APN	12	4297520	missense	probably benign	0.31
IGL02111:Ncoa1	APN	12	4274944	start codon destroyed	probably null
IGL02863:Ncoa1	APN	12	4297513	missense	probably benign	0.00
IGL02967:Ncoa1	APN	12	4295294	missense	probably damaging	1.00
IGL03007:Ncoa1	APN	12	4339114	missense	possibly damaging	0.92
IGL03031:Ncoa1	APN	12	4274818	missense	possibly damaging	0.76
IGL03048:Ncoa1	UTSW	12	4267922	missense	probably damaging	0.96
IGL03147:Ncoa1	UTSW	12	4259342	missense	probably damaging	1.00
PIT1430001:Ncoa1	UTSW	12	4323005	missense	probably benign	0.19
PIT4402001:Ncoa1	UTSW	12	4294987	missense	probably benign	0.00
R0002:Ncoa1	UTSW	12	4290885	missense	probably benign	0.00
R0011:Ncoa1	UTSW	12	4322896	missense	possibly damaging	0.94
R0389:Ncoa1	UTSW	12	4295976	missense	probably benign	0.05
R0467:Ncoa1	UTSW	12	4267687	missense	possibly damaging	0.49
R0480:Ncoa1	UTSW	12	4339105	missense	probably damaging	1.00
R0541:Ncoa1	UTSW	12	4323033	missense	probably damaging	1.00
R0671:Ncoa1	UTSW	12	4249758	splice site	probably null
R1387:Ncoa1	UTSW	12	4274790	missense	probably benign	0.01
R1426:Ncoa1	UTSW	12	4270737	splice site	probably benign
R1538:Ncoa1	UTSW	12	4270748	missense	possibly damaging	0.94
R1577:Ncoa1	UTSW	12	4295196	missense	probably damaging	0.99
R1902:Ncoa1	UTSW	12	4339049	missense	possibly damaging	0.78
R1905:Ncoa1	UTSW	12	4295433	missense	probably damaging	1.00
R2026:Ncoa1	UTSW	12	4267647	missense	probably benign	0.19
R2317:Ncoa1	UTSW	12	4275189	missense	probably damaging	0.99
R3608:Ncoa1	UTSW	12	4278186	missense	probably benign	0.00
R4042:Ncoa1	UTSW	12	4267871	missense	probably damaging	0.99
R4688:Ncoa1	UTSW	12	4315781	missense	probably benign	0.26
R4763:Ncoa1	UTSW	12	4275297	missense	probably damaging	1.00
R4878:Ncoa1	UTSW	12	4275004	missense	probably damaging	1.00
R5062:Ncoa1	UTSW	12	4259333	missense	probably damaging	0.99
R5531:Ncoa1	UTSW	12	4253746	missense	probably benign
R6393:Ncoa1	UTSW	12	4278181	missense	probably benign	0.00
R6711:Ncoa1	UTSW	12	4322904	missense	probably benign	0.26
R7066:Ncoa1	UTSW	12	4322934	missense	possibly damaging	0.90
R7109:Ncoa1	UTSW	12	4322978	missense	possibly damaging	0.63
R7170:Ncoa1	UTSW	12	4249722	missense	probably benign	0.32
R7395:Ncoa1	UTSW	12	4295188	missense	not run
R7453:Ncoa1	UTSW	12	4259307	missense	probably damaging	1.00
R7556:Ncoa1	UTSW	12	4270794	missense	probably damaging	0.98
R7821:Ncoa1	UTSW	12	4296221	missense	probably benign	0.00
R7872:Ncoa1	UTSW	12	4278186	missense	probably benign	0.00
R7885:Ncoa1	UTSW	12	4339044	missense	probably damaging	1.00
R7936:Ncoa1	UTSW	12	4335873	missense	possibly damaging	0.53
R7940:Ncoa1	UTSW	12	4313095	missense	possibly damaging	0.50
R8126:Ncoa1	UTSW	12	4290951	missense	probably damaging	1.00
R8176:Ncoa1	UTSW	12	4267858	missense	possibly damaging	0.90
R8492:Ncoa1	UTSW	12	4263473	missense	probably damaging	1.00
R8510:Ncoa1	UTSW	12	4259303	missense	probably benign
R8772:Ncoa1	UTSW	12	4322940	missense	possibly damaging	0.63
R9082:Ncoa1	UTSW	12	4296106	missense	probably benign	0.02
R9094:Ncoa1	UTSW	12	4295494	missense	possibly damaging	0.86
R9238:Ncoa1	UTSW	12	4275177	missense	possibly damaging	0.95
R9434:Ncoa1	UTSW	12	4315755	missense	probably benign
R9491:Ncoa1	UTSW	12	4290912	missense	probably benign	0.20
R9542:Ncoa1	UTSW	12	4275178	missense	possibly damaging	0.57
R9625:Ncoa1	UTSW	12	4295643	missense	probably damaging	1.00
Z1177:Ncoa1	UTSW	12	4306514	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATTATCTCAGGAAGATAGCATGCAA -3'
(R):5'- GGTTGTTAACATCCCTTCTGTTT -3'

Sequencing Primer
(F):5'- GATAGCATGCAATCATTTTCTCCTG -3'
(R):5'- CTTCTGCTACATAGGCAGCTAGAG -3'

Posted On

2014-10-16