Mutagenetix > Incidental Mutations

Incidental Mutation 'R5940:Ncoa6'

462466

Institutional Source

Beutler Lab

Gene Symbol

Ncoa6

Ensembl Gene

ENSMUSG00000038369

Gene Name

nuclear receptor coactivator 6

Synonyms

PRIP, ASC-2, NRC, AIB3, RAP250, ASC2

MMRRC Submission

044132-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5940 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155390656-155473894 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155415865 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 586 (M586K)

Ref Sequence

ENSEMBL: ENSMUSP00000118113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043126] [ENSMUST00000109669] [ENSMUST00000109670] [ENSMUST00000123293]

Predicted Effect

probably damaging
Transcript: ENSMUST00000043126
AA Change: M586K

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

SMART Domains

Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369
AA Change: M586K

Domain	Start	End	E-Value	Type
Pfam:Nucleic_acid_bd	47	190	3.3e-55	PFAM
coiled coil region	256	296	N/A	INTRINSIC
low complexity region	375	383	N/A	INTRINSIC
internal_repeat_1	450	597	3.31e-5	PROSPERO
low complexity region	615	630	N/A	INTRINSIC
internal_repeat_1	636	793	3.31e-5	PROSPERO
low complexity region	844	860	N/A	INTRINSIC
low complexity region	909	931	N/A	INTRINSIC
low complexity region	986	998	N/A	INTRINSIC
low complexity region	1002	1046	N/A	INTRINSIC
low complexity region	1126	1139	N/A	INTRINSIC
low complexity region	1258	1273	N/A	INTRINSIC
low complexity region	1328	1351	N/A	INTRINSIC
low complexity region	1543	1564	N/A	INTRINSIC
low complexity region	1578	1599	N/A	INTRINSIC
low complexity region	1607	1618	N/A	INTRINSIC
low complexity region	1808	1825	N/A	INTRINSIC
low complexity region	1894	1908	N/A	INTRINSIC
low complexity region	2043	2053	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109669

SMART Domains

Protein: ENSMUSP00000105294
Gene: ENSMUSG00000038369

Domain	Start	End	E-Value	Type
Pfam:Nucleic_acid_bd	45	195	2.6e-61	PFAM
SCOP:d1lsha3	239	321	5e-3	SMART
low complexity region	375	383	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109670
AA Change: M586K

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

SMART Domains

Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369
AA Change: M586K

Domain	Start	End	E-Value	Type
Pfam:Nucleic_acid_bd	45	195	3.6e-60	PFAM
coiled coil region	256	296	N/A	INTRINSIC
low complexity region	375	383	N/A	INTRINSIC
internal_repeat_1	450	597	3.31e-5	PROSPERO
low complexity region	615	630	N/A	INTRINSIC
internal_repeat_1	636	793	3.31e-5	PROSPERO
low complexity region	844	860	N/A	INTRINSIC
low complexity region	909	931	N/A	INTRINSIC
low complexity region	986	998	N/A	INTRINSIC
low complexity region	1002	1046	N/A	INTRINSIC
low complexity region	1126	1139	N/A	INTRINSIC
low complexity region	1258	1273	N/A	INTRINSIC
low complexity region	1328	1351	N/A	INTRINSIC
low complexity region	1543	1564	N/A	INTRINSIC
low complexity region	1578	1599	N/A	INTRINSIC
low complexity region	1607	1618	N/A	INTRINSIC
low complexity region	1808	1825	N/A	INTRINSIC
low complexity region	1894	1908	N/A	INTRINSIC
low complexity region	2043	2053	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000123293
AA Change: M586K

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

SMART Domains

Protein: ENSMUSP00000118113
Gene: ENSMUSG00000038369
AA Change: M586K

Domain	Start	End	E-Value	Type
Pfam:Nucleic_acid_bd	45	195	2.4e-60	PFAM
coiled coil region	256	296	N/A	INTRINSIC
low complexity region	375	383	N/A	INTRINSIC
low complexity region	564	573	N/A	INTRINSIC
low complexity region	615	630	N/A	INTRINSIC
low complexity region	844	860	N/A	INTRINSIC
low complexity region	909	931	N/A	INTRINSIC
low complexity region	986	998	N/A	INTRINSIC
low complexity region	1002	1046	N/A	INTRINSIC
low complexity region	1126	1139	N/A	INTRINSIC
low complexity region	1258	1273	N/A	INTRINSIC
low complexity region	1328	1351	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141928

Meta Mutation Damage Score

0.0722

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (88/92)

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit retarded embryonic growth and defects of the placenta, heart, liver, and nervous system. Mutants die around midgestation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,893,288		probably benign	Het
1110008L16Rik	T	A	12: 55,304,874	W323R	probably damaging	Het
1500015O10Rik	C	T	1: 43,737,241	R41*	probably null	Het
3425401B19Rik	T	C	14: 32,662,688	Y440C	possibly damaging	Het
5430419D17Rik	A	T	7: 131,238,263	D638V	probably damaging	Het
Aasdh	G	T	5: 76,882,898	S618R	probably benign	Het
Alpk1	T	G	3: 127,670,946	T1228P	probably benign	Het
Ank3	T	C	10: 69,920,486	V850A	probably benign	Het
Apeh	A	T	9: 108,091,899		probably null	Het
Ash1l	C	T	3: 88,984,036	T1074I	probably damaging	Het
C3	G	A	17: 57,210,244	S1297F	possibly damaging	Het
Cchcr1	G	A	17: 35,524,993	R284Q	probably damaging	Het
Cd93	A	T	2: 148,442,232	I398N	probably benign	Het
Chrd	G	T	16: 20,734,586	R226L	probably null	Het
Clvs1	A	T	4: 9,449,443	N344I	possibly damaging	Het
Cyp4v3	A	T	8: 45,321,784	I111N	probably damaging	Het
Cysltr2	T	A	14: 73,029,949	Y107F	probably damaging	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
Defb47	A	T	14: 63,000,910	E28D	probably benign	Het
Dnajc30	T	A	5: 135,064,559	Y103*	probably null	Het
Drap1	T	C	19: 5,423,000	T160A	probably benign	Het
Dsp	A	G	13: 38,196,026	E2249G	possibly damaging	Het
E2f8	T	A	7: 48,871,077	I499F	probably benign	Het
Ebf1	T	A	11: 44,621,221	Y116N	probably damaging	Het
Ect2	C	A	3: 27,115,465	E746D	probably benign	Het
Enpep	T	A	3: 129,312,578	Y333F	probably damaging	Het
Fat4	T	C	3: 38,889,649	V897A	probably benign	Het
Gja3	T	A	14: 57,035,860	S352C	probably damaging	Het
Gm884	T	C	11: 103,613,886	S243G	probably benign	Het
Gpr153	C	A	4: 152,283,375	P561Q	probably benign	Het
Hlcs	T	C	16: 94,134,712	M574V	probably damaging	Het
Hmcn1	A	G	1: 150,657,222	V3070A	probably benign	Het
Hsd3b2	G	T	3: 98,711,971	N219K	probably benign	Het
Htra3	T	C	5: 35,652,980	I453V	possibly damaging	Het
Klrc1	A	T	6: 129,674,935	M220K	possibly damaging	Het
Kntc1	T	G	5: 123,786,195	I1048S	probably benign	Het
Macf1	T	A	4: 123,432,881	D2822V	probably damaging	Het
Mcu	T	A	10: 59,456,732	I42F	possibly damaging	Het
Mkln1	T	A	6: 31,489,372	D521E	probably damaging	Het
Ms4a13	T	C	19: 11,192,966	N5D	possibly damaging	Het
Msh3	T	G	13: 92,249,843	N838T	probably damaging	Het
Msl2	T	A	9: 101,101,091	C221*	probably null	Het
Ncapd2	A	G	6: 125,168,869	S1310P	probably benign	Het
Ndel1	C	T	11: 68,822,571		probably benign	Het
Ndst4	T	C	3: 125,561,419		probably benign	Het
Nes	T	G	3: 87,975,952	V506G	probably damaging	Het
Nrg1	T	C	8: 31,849,344	K200E	probably damaging	Het
Nt5c1b	A	G	12: 10,375,515	K295E	probably damaging	Het
Olfr1085	A	T	2: 86,658,050	M136K	probably damaging	Het
Olfr1278	G	A	2: 111,292,384	V39M	possibly damaging	Het
Olfr1487	T	A	19: 13,619,153		probably null	Het
Olfr750	T	A	14: 51,070,722	I224L	probably damaging	Het
Olfr878	C	T	9: 37,919,437	T260I	probably damaging	Het
Olfr919	G	T	9: 38,697,711	Y218*	probably null	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pde1a	A	G	2: 79,887,839		probably null	Het
Pds5a	A	G	5: 65,643,985		probably benign	Het
Plbd1	A	T	6: 136,613,721		probably benign	Het
Plod2	T	A	9: 92,591,397	V292E	probably benign	Het
Polg	A	G	7: 79,454,071	V879A	possibly damaging	Het
Ppargc1a	C	T	5: 51,473,911	A459T	probably damaging	Het
Psip1	T	C	4: 83,476,322	E83G	probably damaging	Het
Rhbdf1	T	C	11: 32,209,847	D843G	probably benign	Het
Rnpepl1	G	T	1: 92,917,712	C451F	probably damaging	Het
Rrp1	T	C	10: 78,405,415	D206G	probably damaging	Het
Setbp1	A	T	18: 78,755,488	D1492E	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc16a6	C	T	11: 109,473,196		probably benign	Homo
Slc7a6os	A	G	8: 106,210,805	S37P	probably damaging	Het
Tenm4	T	A	7: 96,845,895	S1140T	probably damaging	Het
Thoc6	C	A	17: 23,670,341	R115L	probably benign	Het
Tmem63c	C	T	12: 87,075,172	H385Y	probably benign	Het
Trpm8	G	T	1: 88,351,415	E649*	probably null	Het
Usf1	A	G	1: 171,417,779	E253G	possibly damaging	Het
Vps13d	T	C	4: 145,074,975	T443A	probably benign	Het
Wdr86	T	C	5: 24,722,662	Y93C	probably damaging	Het
Zfp597	A	T	16: 3,865,821	I357N	probably damaging	Het
Zfp709	A	G	8: 71,890,220	I497V	possibly damaging	Het
Zxdc	T	C	6: 90,370,325	S223P	probably damaging	Het

Other mutations in Ncoa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Ncoa6	APN	2	155406208	missense	probably damaging	0.99
IGL00849:Ncoa6	APN	2	155421688	missense	possibly damaging	0.89
IGL00933:Ncoa6	APN	2	155415397	missense	probably damaging	1.00
IGL00981:Ncoa6	APN	2	155406179	missense	probably damaging	0.98
IGL01420:Ncoa6	APN	2	155407587	missense	probably damaging	1.00
IGL02160:Ncoa6	APN	2	155421083	missense	possibly damaging	0.65
IGL03049:Ncoa6	APN	2	155419014	missense	probably damaging	1.00
IGL03194:Ncoa6	APN	2	155415868	missense	possibly damaging	0.94
IGL03269:Ncoa6	APN	2	155406489	missense	probably damaging	0.97
IGL03299:Ncoa6	APN	2	155407287	missense	probably damaging	0.97
IGL03306:Ncoa6	APN	2	155405507	missense	probably benign	0.30
alcoa	UTSW	2	155402664	unclassified	probably benign
Aluminum	UTSW	2	155399693	critical splice acceptor site	probably null
balboa	UTSW	2	155406949	missense	probably benign	0.05
mauna_loa	UTSW	2	155415227	missense	probably damaging	0.99
PIT4466001:Ncoa6	UTSW	2	155405657	missense	probably benign
R0011:Ncoa6	UTSW	2	155408291	frame shift	probably null
R0014:Ncoa6	UTSW	2	155438043	missense	possibly damaging	0.86
R0079:Ncoa6	UTSW	2	155408291	frame shift	probably null
R0080:Ncoa6	UTSW	2	155408291	frame shift	probably null
R0081:Ncoa6	UTSW	2	155408291	frame shift	probably null
R0164:Ncoa6	UTSW	2	155408291	frame shift	probably null
R0166:Ncoa6	UTSW	2	155408291	frame shift	probably null
R0172:Ncoa6	UTSW	2	155408291	frame shift	probably null
R0173:Ncoa6	UTSW	2	155408291	frame shift	probably null
R0245:Ncoa6	UTSW	2	155391211	missense	probably benign	0.00
R0284:Ncoa6	UTSW	2	155408291	frame shift	probably null
R0285:Ncoa6	UTSW	2	155408291	frame shift	probably null
R0285:Ncoa6	UTSW	2	155415701	missense	probably damaging	0.96
R0288:Ncoa6	UTSW	2	155408291	frame shift	probably null
R0539:Ncoa6	UTSW	2	155415697	missense	probably benign	0.08
R0652:Ncoa6	UTSW	2	155391211	missense	probably benign	0.00
R0781:Ncoa6	UTSW	2	155411520	splice site	probably benign
R1053:Ncoa6	UTSW	2	155434040	missense	probably damaging	1.00
R1110:Ncoa6	UTSW	2	155411520	splice site	probably benign
R1420:Ncoa6	UTSW	2	155421153	nonsense	probably null
R1521:Ncoa6	UTSW	2	155415222	missense	possibly damaging	0.78
R1541:Ncoa6	UTSW	2	155415304	missense	probably benign	0.35
R1677:Ncoa6	UTSW	2	155402664	unclassified	probably benign
R1858:Ncoa6	UTSW	2	155421639	missense	probably benign	0.13
R1954:Ncoa6	UTSW	2	155406821	missense	possibly damaging	0.94
R1955:Ncoa6	UTSW	2	155406821	missense	possibly damaging	0.94
R2040:Ncoa6	UTSW	2	155406080	missense	probably damaging	0.98
R2087:Ncoa6	UTSW	2	155406159	nonsense	probably null
R2159:Ncoa6	UTSW	2	155407713	missense	probably damaging	1.00
R2278:Ncoa6	UTSW	2	155407650	missense	possibly damaging	0.94
R2696:Ncoa6	UTSW	2	155438015	missense	probably benign	0.45
R2891:Ncoa6	UTSW	2	155437961	missense	possibly damaging	0.86
R3618:Ncoa6	UTSW	2	155407789	missense	possibly damaging	0.95
R3747:Ncoa6	UTSW	2	155411641	missense	probably benign	0.01
R3778:Ncoa6	UTSW	2	155421195	missense	probably damaging	1.00
R3784:Ncoa6	UTSW	2	155407757	missense	probably damaging	1.00
R3802:Ncoa6	UTSW	2	155405564	missense	probably benign
R3820:Ncoa6	UTSW	2	155406938	missense	probably damaging	1.00
R3821:Ncoa6	UTSW	2	155406938	missense	probably damaging	1.00
R3822:Ncoa6	UTSW	2	155406938	missense	probably damaging	1.00
R3870:Ncoa6	UTSW	2	155415557	unclassified	probably null
R4037:Ncoa6	UTSW	2	155407370	missense	probably damaging	0.98
R4488:Ncoa6	UTSW	2	155407476	missense	possibly damaging	0.94
R4719:Ncoa6	UTSW	2	155391161	unclassified	probably benign
R4732:Ncoa6	UTSW	2	155421301	missense	probably damaging	1.00
R4733:Ncoa6	UTSW	2	155421301	missense	probably damaging	1.00
R4829:Ncoa6	UTSW	2	155415227	missense	probably damaging	0.99
R4835:Ncoa6	UTSW	2	155407133	missense	possibly damaging	0.46
R4883:Ncoa6	UTSW	2	155406767	missense	probably benign	0.29
R4967:Ncoa6	UTSW	2	155421332	missense	possibly damaging	0.80
R5021:Ncoa6	UTSW	2	155406949	missense	probably benign	0.05
R5234:Ncoa6	UTSW	2	155438013	missense	probably benign	0.01
R5356:Ncoa6	UTSW	2	155421192	missense	probably damaging	0.99
R5358:Ncoa6	UTSW	2	155406987	missense	probably damaging	0.97
R5375:Ncoa6	UTSW	2	155433995	missense	probably benign	0.16
R5412:Ncoa6	UTSW	2	155407781	missense	possibly damaging	0.95
R5579:Ncoa6	UTSW	2	155406677	missense	probably damaging	1.00
R5618:Ncoa6	UTSW	2	155437897	missense	possibly damaging	0.86
R5641:Ncoa6	UTSW	2	155421836	missense	probably benign	0.22
R5757:Ncoa6	UTSW	2	155411608	missense	probably damaging	1.00
R5761:Ncoa6	UTSW	2	155408141	missense	probably benign	0.11
R5778:Ncoa6	UTSW	2	155406768	missense	probably benign	0.01
R5852:Ncoa6	UTSW	2	155405499	missense	possibly damaging	0.88
R6155:Ncoa6	UTSW	2	155407448	missense	probably damaging	1.00
R6374:Ncoa6	UTSW	2	155421156	missense	probably damaging	1.00
R6389:Ncoa6	UTSW	2	155395816	missense	probably damaging	0.98
R6669:Ncoa6	UTSW	2	155399693	critical splice acceptor site	probably null
R7097:Ncoa6	UTSW	2	155438063	missense	probably benign	0.01
R7385:Ncoa6	UTSW	2	155407801	missense	probably damaging	1.00
RF033:Ncoa6	UTSW	2	155421731	small deletion	probably benign
RF040:Ncoa6	UTSW	2	155421731	small deletion	probably benign
RF048:Ncoa6	UTSW	2	155421712	small deletion	probably benign
X0017:Ncoa6	UTSW	2	155406540	missense	probably benign	0.05
Z1176:Ncoa6	UTSW	2	155421302	missense	probably damaging	0.99
Z1177:Ncoa6	UTSW	2	155406142	missense	possibly damaging	0.67
Z1177:Ncoa6	UTSW	2	155421218	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGCTGGGCCCTTGAAAGG -3'
(R):5'- CAGAAAGTGTGTTAAACATGTGC -3'

Sequencing Primer
(F):5'- CAAAGTTCCTTGTTGCTGGGCC -3'
(R):5'- TGTTAAACATGTGCATTTATGTTGG -3'

Posted On

2017-02-28