Mutagenetix > Incidental Mutation

Incidental Mutation 'R0079:Ncoa6'

65755

Institutional Source

Beutler Lab

Gene Symbol

Ncoa6

Ensembl Gene

ENSMUSG00000038369

Gene Name

nuclear receptor coactivator 6

Synonyms

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

MMRRC Submission

038366-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0079 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

155232585-155315741 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TGC to TGCGC at 155250211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118113 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000043126

SMART Domains

Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369

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 null
Transcript: ENSMUST00000109670

SMART Domains

Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369

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 null
Transcript: ENSMUST00000123293

SMART Domains

Protein: ENSMUSP00000118113
Gene: ENSMUSG00000038369

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: ENSMUST00000146942

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

78% (155/199)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,057,183 (GRCm39)	T105S	possibly damaging	Het
Abca13	G	A	11: 9,243,493 (GRCm39)	M1785I	probably benign	Het
Adamts3	G	C	5: 89,840,912 (GRCm39)	P804A	probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ank2	G	T	3: 126,728,264 (GRCm39)	D776E	probably benign	Het
Cep152	T	A	2: 125,460,373 (GRCm39)	K193M	possibly damaging	Het
Cep55	C	T	19: 38,048,769 (GRCm39)	L142F	probably benign	Het
Chd5	A	G	4: 152,470,206 (GRCm39)	Y1884C	probably damaging	Het
Clasp1	T	C	1: 118,471,034 (GRCm39)	L890P	probably damaging	Het
Cul9	C	A	17: 46,848,589 (GRCm39)	E716*	probably null	Het
Cytip	T	A	2: 58,050,006 (GRCm39)	D21V	probably benign	Het
Denr	T	G	5: 124,062,908 (GRCm39)	F137C	probably damaging	Het
Dhrs3	A	T	4: 144,646,618 (GRCm39)	S197C	probably damaging	Het
Egr4	A	T	6: 85,489,751 (GRCm39)	M103K	probably damaging	Het
Eif4enif1	C	T	11: 3,192,676 (GRCm39)	Q835*	probably null	Het
Gckr	A	G	5: 31,463,883 (GRCm39)	I268V	probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Hpd	T	C	5: 123,319,544 (GRCm39)	Y8C	probably damaging	Het
Il12rb2	A	T	6: 67,338,889 (GRCm39)	F16I	probably benign	Het
Ildr2	A	T	1: 166,135,289 (GRCm39)	Y347F	probably damaging	Het
Kcnv1	T	C	15: 44,976,729 (GRCm39)	D186G	probably damaging	Het
Khdrbs2	A	G	1: 32,558,996 (GRCm39)		probably null	Het
L1cam	G	T	X: 72,913,364 (GRCm39)	P16H	probably damaging	Het
Lyn	A	G	4: 3,746,768 (GRCm39)	H161R	probably damaging	Het
Mctp2	T	A	7: 71,863,864 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mitf	A	C	6: 97,973,401 (GRCm39)	M220L	probably benign	Het
Mrpl21	T	C	19: 3,334,807 (GRCm39)	Y50H	possibly damaging	Het
Myh1	T	A	11: 67,104,237 (GRCm39)	L968Q	probably damaging	Het
Myo3b	A	G	2: 69,925,502 (GRCm39)	K18E	possibly damaging	Het
Nlrp2	T	A	7: 5,330,729 (GRCm39)	T556S	possibly damaging	Het
Nsmf	T	C	2: 24,949,096 (GRCm39)		probably benign	Het
Nsun7	C	T	5: 66,452,856 (GRCm39)	P558S	probably benign	Het
Or10h5	G	A	17: 33,435,079 (GRCm39)	R80C	probably benign	Het
Or1e34	T	G	11: 73,778,563 (GRCm39)	I212L	probably benign	Het
Or56a3	T	C	7: 104,735,135 (GRCm39)	S71P	probably damaging	Het
Or5d40	A	T	2: 88,015,698 (GRCm39)	Y159F	possibly damaging	Het
Phf19	T	C	2: 34,785,966 (GRCm39)	N501S	probably benign	Het
Ranbp17	A	C	11: 33,450,682 (GRCm39)	I85S	probably damaging	Het
Robo1	A	G	16: 72,730,230 (GRCm39)		probably benign	Het
Sntg1	A	G	1: 8,749,286 (GRCm39)		probably benign	Het
Snx15	A	G	19: 6,173,943 (GRCm39)	L58P	probably damaging	Het
Spink5	G	T	18: 44,110,831 (GRCm39)	C134F	probably damaging	Het
Strip2	T	C	6: 29,920,532 (GRCm39)		probably null	Het
Taf1d	C	T	9: 15,221,240 (GRCm39)	A182V	probably benign	Het
Tenm3	A	G	8: 48,796,380 (GRCm39)	V475A	possibly damaging	Het
Tent4b	T	A	8: 88,926,631 (GRCm39)	Y14N	possibly damaging	Het
Tgds	A	T	14: 118,353,647 (GRCm39)	H223Q	possibly damaging	Het
Thoc2	G	T	X: 40,952,985 (GRCm39)	S230Y	probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Trak2	A	T	1: 58,965,883 (GRCm39)	L97Q	probably damaging	Het
Trnau1ap	A	G	4: 132,041,656 (GRCm39)	Y145H	probably damaging	Het
Vars2	A	T	17: 35,970,048 (GRCm39)	D780E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,735 (GRCm39)	S46T	possibly damaging	Het
Vmn1r20	A	T	6: 57,408,777 (GRCm39)	R34S	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdr64	T	C	1: 175,622,668 (GRCm39)	M805T	probably benign	Het
Xdh	G	A	17: 74,198,213 (GRCm39)	R1225C	probably damaging	Het
Zfp341	T	A	2: 154,466,914 (GRCm39)	Y94*	probably null	Het
Zfp641	T	C	15: 98,186,970 (GRCm39)	N218D	probably benign	Het
Zscan22	T	C	7: 12,638,014 (GRCm39)		probably null	Het

Other mutations in Ncoa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Ncoa6	APN	2	155,248,128 (GRCm39)	missense	probably damaging	0.99
IGL00849:Ncoa6	APN	2	155,263,608 (GRCm39)	missense	possibly damaging	0.89
IGL00933:Ncoa6	APN	2	155,257,317 (GRCm39)	missense	probably damaging	1.00
IGL00981:Ncoa6	APN	2	155,248,099 (GRCm39)	missense	probably damaging	0.98
IGL01420:Ncoa6	APN	2	155,249,507 (GRCm39)	missense	probably damaging	1.00
IGL02160:Ncoa6	APN	2	155,263,003 (GRCm39)	missense	possibly damaging	0.65
IGL03049:Ncoa6	APN	2	155,260,934 (GRCm39)	missense	probably damaging	1.00
IGL03194:Ncoa6	APN	2	155,257,788 (GRCm39)	missense	possibly damaging	0.94
IGL03269:Ncoa6	APN	2	155,248,409 (GRCm39)	missense	probably damaging	0.97
IGL03299:Ncoa6	APN	2	155,249,207 (GRCm39)	missense	probably damaging	0.97
IGL03306:Ncoa6	APN	2	155,247,427 (GRCm39)	missense	probably benign	0.30
alcoa	UTSW	2	155,244,584 (GRCm39)	unclassified	probably benign
Aluminum	UTSW	2	155,241,613 (GRCm39)	critical splice acceptor site	probably null
balboa	UTSW	2	155,248,869 (GRCm39)	missense	probably benign	0.05
mauna_loa	UTSW	2	155,257,147 (GRCm39)	missense	probably damaging	0.99
PIT4466001:Ncoa6	UTSW	2	155,247,577 (GRCm39)	missense	probably benign
R0011:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
R0014:Ncoa6	UTSW	2	155,279,963 (GRCm39)	missense	possibly damaging	0.86
R0080:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
R0081:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
R0164:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
R0166:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
R0172:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
R0173:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
R0245:Ncoa6	UTSW	2	155,233,131 (GRCm39)	missense	probably benign	0.00
R0284:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
R0285:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
R0285:Ncoa6	UTSW	2	155,257,621 (GRCm39)	missense	probably damaging	0.96
R0288:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
R0539:Ncoa6	UTSW	2	155,257,617 (GRCm39)	missense	probably benign	0.08
R0652:Ncoa6	UTSW	2	155,233,131 (GRCm39)	missense	probably benign	0.00
R0781:Ncoa6	UTSW	2	155,253,440 (GRCm39)	splice site	probably benign
R1053:Ncoa6	UTSW	2	155,275,960 (GRCm39)	missense	probably damaging	1.00
R1110:Ncoa6	UTSW	2	155,253,440 (GRCm39)	splice site	probably benign
R1420:Ncoa6	UTSW	2	155,263,073 (GRCm39)	nonsense	probably null
R1521:Ncoa6	UTSW	2	155,257,142 (GRCm39)	missense	possibly damaging	0.78
R1541:Ncoa6	UTSW	2	155,257,224 (GRCm39)	missense	probably benign	0.35
R1677:Ncoa6	UTSW	2	155,244,584 (GRCm39)	unclassified	probably benign
R1858:Ncoa6	UTSW	2	155,263,559 (GRCm39)	missense	probably benign	0.13
R1954:Ncoa6	UTSW	2	155,248,741 (GRCm39)	missense	possibly damaging	0.94
R1955:Ncoa6	UTSW	2	155,248,741 (GRCm39)	missense	possibly damaging	0.94
R2040:Ncoa6	UTSW	2	155,248,000 (GRCm39)	missense	probably damaging	0.98
R2087:Ncoa6	UTSW	2	155,248,079 (GRCm39)	nonsense	probably null
R2159:Ncoa6	UTSW	2	155,249,633 (GRCm39)	missense	probably damaging	1.00
R2278:Ncoa6	UTSW	2	155,249,570 (GRCm39)	missense	possibly damaging	0.94
R2696:Ncoa6	UTSW	2	155,279,935 (GRCm39)	missense	probably benign	0.45
R2891:Ncoa6	UTSW	2	155,279,881 (GRCm39)	missense	possibly damaging	0.86
R3618:Ncoa6	UTSW	2	155,249,709 (GRCm39)	missense	possibly damaging	0.95
R3747:Ncoa6	UTSW	2	155,253,561 (GRCm39)	missense	probably benign	0.01
R3778:Ncoa6	UTSW	2	155,263,115 (GRCm39)	missense	probably damaging	1.00
R3784:Ncoa6	UTSW	2	155,249,677 (GRCm39)	missense	probably damaging	1.00
R3802:Ncoa6	UTSW	2	155,247,484 (GRCm39)	missense	probably benign
R3820:Ncoa6	UTSW	2	155,248,858 (GRCm39)	missense	probably damaging	1.00
R3821:Ncoa6	UTSW	2	155,248,858 (GRCm39)	missense	probably damaging	1.00
R3822:Ncoa6	UTSW	2	155,248,858 (GRCm39)	missense	probably damaging	1.00
R3870:Ncoa6	UTSW	2	155,257,477 (GRCm39)	splice site	probably null
R4037:Ncoa6	UTSW	2	155,249,290 (GRCm39)	missense	probably damaging	0.98
R4488:Ncoa6	UTSW	2	155,249,396 (GRCm39)	missense	possibly damaging	0.94
R4719:Ncoa6	UTSW	2	155,233,081 (GRCm39)	unclassified	probably benign
R4732:Ncoa6	UTSW	2	155,263,221 (GRCm39)	missense	probably damaging	1.00
R4733:Ncoa6	UTSW	2	155,263,221 (GRCm39)	missense	probably damaging	1.00
R4829:Ncoa6	UTSW	2	155,257,147 (GRCm39)	missense	probably damaging	0.99
R4835:Ncoa6	UTSW	2	155,249,053 (GRCm39)	missense	possibly damaging	0.46
R4883:Ncoa6	UTSW	2	155,248,687 (GRCm39)	missense	probably benign	0.29
R4967:Ncoa6	UTSW	2	155,263,252 (GRCm39)	missense	possibly damaging	0.80
R5021:Ncoa6	UTSW	2	155,248,869 (GRCm39)	missense	probably benign	0.05
R5234:Ncoa6	UTSW	2	155,279,933 (GRCm39)	missense	probably benign	0.01
R5356:Ncoa6	UTSW	2	155,263,112 (GRCm39)	missense	probably damaging	0.99
R5358:Ncoa6	UTSW	2	155,248,907 (GRCm39)	missense	probably damaging	0.97
R5375:Ncoa6	UTSW	2	155,275,915 (GRCm39)	missense	probably benign	0.16
R5412:Ncoa6	UTSW	2	155,249,701 (GRCm39)	missense	possibly damaging	0.95
R5579:Ncoa6	UTSW	2	155,248,597 (GRCm39)	missense	probably damaging	1.00
R5618:Ncoa6	UTSW	2	155,279,817 (GRCm39)	missense	possibly damaging	0.86
R5641:Ncoa6	UTSW	2	155,263,756 (GRCm39)	missense	probably benign	0.22
R5757:Ncoa6	UTSW	2	155,253,528 (GRCm39)	missense	probably damaging	1.00
R5761:Ncoa6	UTSW	2	155,250,061 (GRCm39)	missense	probably benign	0.11
R5778:Ncoa6	UTSW	2	155,248,688 (GRCm39)	missense	probably benign	0.01
R5852:Ncoa6	UTSW	2	155,247,419 (GRCm39)	missense	possibly damaging	0.88
R5940:Ncoa6	UTSW	2	155,257,785 (GRCm39)	missense	probably damaging	0.98
R6155:Ncoa6	UTSW	2	155,249,368 (GRCm39)	missense	probably damaging	1.00
R6374:Ncoa6	UTSW	2	155,263,076 (GRCm39)	missense	probably damaging	1.00
R6389:Ncoa6	UTSW	2	155,237,736 (GRCm39)	missense	probably damaging	0.98
R6669:Ncoa6	UTSW	2	155,241,613 (GRCm39)	critical splice acceptor site	probably null
R7097:Ncoa6	UTSW	2	155,279,983 (GRCm39)	missense	probably benign	0.01
R7385:Ncoa6	UTSW	2	155,249,721 (GRCm39)	missense	probably damaging	1.00
R7963:Ncoa6	UTSW	2	155,247,916 (GRCm39)	missense	probably benign	0.30
R8356:Ncoa6	UTSW	2	155,248,172 (GRCm39)	missense	possibly damaging	0.59
R8698:Ncoa6	UTSW	2	155,257,041 (GRCm39)	missense	possibly damaging	0.94
R8859:Ncoa6	UTSW	2	155,248,388 (GRCm39)	missense	possibly damaging	0.63
R8870:Ncoa6	UTSW	2	155,263,078 (GRCm39)	missense	probably damaging	0.99
R9041:Ncoa6	UTSW	2	155,257,450 (GRCm39)	missense	possibly damaging	0.89
R9062:Ncoa6	UTSW	2	155,263,348 (GRCm39)	missense	probably benign	0.42
R9088:Ncoa6	UTSW	2	155,249,726 (GRCm39)	missense	probably damaging	0.98
R9225:Ncoa6	UTSW	2	155,249,441 (GRCm39)	missense	possibly damaging	0.95
R9445:Ncoa6	UTSW	2	155,250,063 (GRCm39)	missense	probably benign	0.01
R9497:Ncoa6	UTSW	2	155,248,238 (GRCm39)	missense	probably damaging	0.97
R9514:Ncoa6	UTSW	2	155,248,133 (GRCm39)	missense	probably benign	0.19
R9656:Ncoa6	UTSW	2	155,274,846 (GRCm39)	missense	probably damaging	1.00
R9720:Ncoa6	UTSW	2	155,250,304 (GRCm39)	missense	probably damaging	0.98
R9732:Ncoa6	UTSW	2	155,244,636 (GRCm39)	missense	probably damaging	0.99
RF033:Ncoa6	UTSW	2	155,263,651 (GRCm39)	small deletion	probably benign
RF040:Ncoa6	UTSW	2	155,263,651 (GRCm39)	small deletion	probably benign
RF048:Ncoa6	UTSW	2	155,263,632 (GRCm39)	small deletion	probably benign
X0017:Ncoa6	UTSW	2	155,248,460 (GRCm39)	missense	probably benign	0.05
Z1176:Ncoa6	UTSW	2	155,263,222 (GRCm39)	missense	probably damaging	0.99
Z1177:Ncoa6	UTSW	2	155,263,138 (GRCm39)	missense	probably damaging	1.00
Z1177:Ncoa6	UTSW	2	155,248,062 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

Posted On

2013-08-19