Mutagenetix > Incidental Mutation

Incidental Mutation 'R1538:Ncoa1'

169725

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

039577-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1538 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

4247362-4477182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4270748 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1107 (Q1107R)

Ref Sequence

ENSEMBL: ENSMUSP00000151358 (fasta)

Gene Model

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

AlphaFold

P70365

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085814
AA Change: Q1107R

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: Q1107R

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 benign
Transcript: ENSMUST00000217674

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217794
AA Change: Q1107R

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

unknown
Transcript: ENSMUST00000218191
AA Change: Q118R

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220434
AA Change: Q1107R

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.6%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 138,065,401	R117L	probably benign	Het
4930447C04Rik	G	A	12: 72,881,346	A537V	possibly damaging	Het
4930579F01Rik	A	C	3: 138,183,756	D33E	probably damaging	Het
9530053A07Rik	A	T	7: 28,155,492	I1848F	probably damaging	Het
Acnat1	T	C	4: 49,447,835	K249E	possibly damaging	Het
Ankrd13a	T	C	5: 114,804,234	I526T	possibly damaging	Het
Aplp1	C	A	7: 30,436,027	E535D	probably benign	Het
Armc8	T	A	9: 99,505,290	H425L	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Asprv1	C	T	6: 86,628,636	Q155*	probably null	Het
Atl1	A	G	12: 69,926,188	Q94R	probably benign	Het
Atp2a2	A	G	5: 122,457,377	L970P	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Bod1l	A	G	5: 41,816,429	M2514T	probably benign	Het
Cacfd1	T	A	2: 27,018,939	D97E	probably benign	Het
Cacna1e	A	G	1: 154,561,758	L344P	probably damaging	Het
Cacna2d2	C	A	9: 107,517,416	R596S	probably damaging	Het
Catip	C	A	1: 74,364,652	S176*	probably null	Het
Cdcp1	G	A	9: 123,173,588	S806L	probably damaging	Het
Cdk6	A	T	5: 3,520,675	I289L	probably benign	Het
Cers3	C	T	7: 66,781,823	T182I	probably damaging	Het
Cfap46	T	A	7: 139,683,008	N43I	probably null	Het
Clec4n	A	T	6: 123,230,033	R5S	possibly damaging	Het
Cnr2	G	T	4: 135,916,701	S30I	probably benign	Het
Col18a1	C	T	10: 77,071,336	G870E	probably damaging	Het
Cpne6	T	C	14: 55,515,220	V289A	possibly damaging	Het
Crym	G	A	7: 120,197,715	L141F	probably benign	Het
Cxxc5	T	C	18: 35,858,569	S8P	unknown	Het
Dido1	A	C	2: 180,684,970	S453R	possibly damaging	Het
Dnah2	A	C	11: 69,477,202	S1770R	probably benign	Het
Dnah7a	A	G	1: 53,495,989	V2704A	possibly damaging	Het
Eml5	T	C	12: 98,794,276	N1738S	probably damaging	Het
Eri3	A	G	4: 117,582,639	T138A	possibly damaging	Het
Ext2	C	T	2: 93,707,287	E585K	probably damaging	Het
Fam35a	C	G	14: 34,268,876	Q24H	probably damaging	Het
Fam84b	A	G	15: 60,823,649	C83R	probably damaging	Het
Fbxw19	T	A	9: 109,494,988	S38C	probably damaging	Het
Fmo6	G	A	1: 162,926,106	P156S	probably damaging	Het
Frem3	T	C	8: 80,612,710	L544P	probably damaging	Het
Frem3	A	T	8: 80,613,135	I686F	probably benign	Het
Gabra1	T	C	11: 42,140,350	Y251C	probably benign	Het
Gemin4	G	T	11: 76,211,161	Q925K	probably benign	Het
Gm18856	T	A	13: 13,964,689		probably benign	Het
Gnb1	A	T	4: 155,551,714	T164S	probably benign	Het
Gpx6	A	G	13: 21,313,652	D31G	possibly damaging	Het
Gzmd	A	C	14: 56,130,345	I157S	probably benign	Het
Il31ra	T	A	13: 112,547,466	N43I	possibly damaging	Het
Irak3	T	C	10: 120,165,130	T297A	probably benign	Het
Kank2	T	C	9: 21,774,631	D649G	probably damaging	Het
Kif3b	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	2: 153,317,462		probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klhl18	A	G	9: 110,446,747	F111S	probably damaging	Het
Lrp5	A	G	19: 3,647,585	S319P	possibly damaging	Het
Marc1	T	C	1: 184,802,002	E223G	probably damaging	Het
Mettl15	T	C	2: 109,131,665		probably null	Het
Ncoa7	T	G	10: 30,694,211	M251L	probably damaging	Het
Nos2	A	T	11: 78,956,570	M1023L	probably benign	Het
Nup107	T	C	10: 117,790,494	K25E	probably damaging	Het
Olfr1491	A	T	19: 13,705,496	Y223F	probably damaging	Het
Olfr177	T	A	16: 58,872,898	N84I	probably damaging	Het
Olfr482	T	A	7: 108,095,286	I95F	probably damaging	Het
Olfr591	A	G	7: 103,172,986	I217T	probably damaging	Het
Olfr711	A	T	7: 106,971,983	Y120*	probably null	Het
Olfr776	T	C	10: 129,261,213	I84T	probably damaging	Het
Parm1	G	A	5: 91,594,447	E225K	possibly damaging	Het
Pdzd2	A	C	15: 12,372,961	S2363A	probably damaging	Het
Piezo1	A	G	8: 122,491,403	L1199P	probably damaging	Het
Prpsap1	A	T	11: 116,479,708	M141K	probably benign	Het
Prss29	A	T	17: 25,320,283	M1L	possibly damaging	Het
Pter	T	A	2: 12,978,606	S141T	probably benign	Het
Ptpru	A	T	4: 131,774,351	D1181E	probably damaging	Het
Rab3ip	T	A	10: 116,939,254	Q66H	probably damaging	Het
Rgs12	A	T	5: 35,021,167	T779S	probably damaging	Het
Rgs22	A	G	15: 36,048,776	F786S	probably damaging	Het
Rnasel	A	T	1: 153,760,794	D640V	possibly damaging	Het
Rp1	T	C	1: 4,345,676	T1738A	probably damaging	Het
Sacs	T	C	14: 61,210,059	S3185P	probably damaging	Het
Scnn1a	T	A	6: 125,338,893	D321E	possibly damaging	Het
Sec31b	G	C	19: 44,518,586	L1014V	probably benign	Het
Serpinb10	A	G	1: 107,540,960	Y111C	probably damaging	Het
Siglecg	A	G	7: 43,417,889	K627E	possibly damaging	Het
Sigmar1	T	C	4: 41,740,845	I95V	probably benign	Het
Sirpb1b	T	A	3: 15,548,759	T88S	possibly damaging	Het
Spire2	T	G	8: 123,358,156	L245R	probably damaging	Het
Stard9	C	A	2: 120,696,711	P1150T	probably benign	Het
Stat6	C	A	10: 127,653,256	T380N	probably damaging	Het
Sult3a1	G	A	10: 33,870,170	G162E	probably benign	Het
Surf4	T	C	2: 26,933,698		probably null	Het
Tacc2	T	C	7: 130,625,419	M1278T	probably benign	Het
Tacr2	T	A	10: 62,261,327		probably null	Het
Tcaf1	A	T	6: 42,678,989	V351E	probably damaging	Het
Tmcc2	A	G	1: 132,380,980	S59P	probably damaging	Het
Tmem17	G	A	11: 22,517,266	S60N	possibly damaging	Het
Tmem63b	C	G	17: 45,678,978	R88P	possibly damaging	Het
Tmprss7	A	T	16: 45,679,390	I307N	probably benign	Het
Treml2	A	T	17: 48,302,758	T73S	possibly damaging	Het
Trrap	A	G	5: 144,837,202	H2876R	possibly damaging	Het
Tyw3	A	G	3: 154,596,869	I53T	probably damaging	Het
Ugp2	A	G	11: 21,333,791	I92T	possibly damaging	Het
Vmn2r66	A	T	7: 84,994,958	M748K	possibly damaging	Het
Vmn2r82	T	C	10: 79,356,744	S52P	possibly damaging	Het
Wdr37	A	T	13: 8,836,792	S320T	probably benign	Het
Zbtb16	A	T	9: 48,832,283	M243K	probably benign	Het
Zfr	C	T	15: 12,150,243	T432I	possibly damaging	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
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
R2259:Ncoa1	UTSW	12	4315819	missense	probably damaging	1.00
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'- AAGTGTGAGAAAGCATCCATCCCG -3'
(R):5'- AGTTTCAGATGCAGTGTGAGTGCC -3'

Sequencing Primer
(F):5'- TCCCGAATAGGCTAATTCACTC -3'
(R):5'- CAACGATTATCTGATTGACAGTGGG -3'

Posted On

2014-04-13