Mutagenetix > Incidental Mutation

Incidental Mutation 'R2087:Ncoa6'

231503

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

040092-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155232585-155315741 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 155248079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1742 (R1742*)

Ref Sequence

ENSEMBL: ENSMUSP00000105295 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000043126
AA Change: R1742*

SMART Domains

Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369
AA Change: R1742*

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
AA Change: R1742*

SMART Domains

Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369
AA Change: R1742*

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

Validation Efficiency

95% (57/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	A	19: 24,042,364 (GRCm39)		noncoding transcript	Het
Adamts8	G	A	9: 30,873,408 (GRCm39)	R871Q	probably damaging	Het
Ank1	T	C	8: 23,583,827 (GRCm39)	L310S	probably damaging	Het
Atp2a3	A	G	11: 72,871,274 (GRCm39)	T592A	probably damaging	Het
Bpifb6	A	G	2: 153,747,998 (GRCm39)	D219G	possibly damaging	Het
Catsper4	T	C	4: 133,953,916 (GRCm39)	N81S	probably damaging	Het
Ccdc14	T	C	16: 34,516,015 (GRCm39)		probably null	Het
Ces1c	A	C	8: 93,834,230 (GRCm39)	N353K	probably benign	Het
Chrna6	T	A	8: 27,897,155 (GRCm39)	M241L	probably benign	Het
Chtf8	T	A	8: 107,612,568 (GRCm39)	R124*	probably null	Het
Cpt1b	A	G	15: 89,306,411 (GRCm39)	V296A	probably benign	Het
Cryl1	G	A	14: 57,513,402 (GRCm39)	S273L	possibly damaging	Het
Ctps1	T	C	4: 120,420,012 (GRCm39)	D134G	probably benign	Het
Cyp4f18	T	C	8: 72,754,832 (GRCm39)	M138V	probably benign	Het
Dnajb12	A	G	10: 59,726,667 (GRCm39)	K107R	possibly damaging	Het
Epha1	C	T	6: 42,340,502 (GRCm39)	D590N	probably benign	Het
Fndc3b	A	G	3: 27,505,703 (GRCm39)	V855A	probably benign	Het
Ganc	A	G	2: 120,287,738 (GRCm39)	Y822C	probably damaging	Het
Hook2	A	G	8: 85,729,320 (GRCm39)	D622G	probably damaging	Het
Kcnj8	T	A	6: 142,511,422 (GRCm39)	N395I	probably benign	Het
Kdm4b	T	C	17: 56,696,564 (GRCm39)	S427P	possibly damaging	Het
Krt12	A	G	11: 99,309,459 (GRCm39)	F267S	probably damaging	Het
Lrrn2	T	G	1: 132,865,489 (GRCm39)	F185V	probably damaging	Het
Mecom	A	G	3: 30,006,963 (GRCm39)	S764P	probably benign	Het
Mfsd14b	C	G	13: 65,215,796 (GRCm39)	G386R	probably damaging	Het
Mrm2	A	G	5: 140,314,155 (GRCm39)	S227P	probably damaging	Het
Mug1	A	G	6: 121,833,250 (GRCm39)	N285S	probably benign	Het
Nalcn	T	C	14: 123,518,557 (GRCm39)	T1661A	probably benign	Het
Nln	T	A	13: 104,173,877 (GRCm39)	H548L	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or2r3	A	T	6: 42,448,985 (GRCm39)	N42K	probably damaging	Het
Or56b34	T	A	7: 104,937,393 (GRCm39)	I31N	probably benign	Het
Pgm5	T	C	19: 24,710,927 (GRCm39)	Y425C	probably damaging	Het
Pld2	A	G	11: 70,433,786 (GRCm39)	D242G	probably damaging	Het
Plekhm1	A	G	11: 103,287,851 (GRCm39)		probably null	Het
Ptdss1	T	C	13: 67,124,881 (GRCm39)		probably benign	Het
Pyroxd2	G	T	19: 42,722,209 (GRCm39)	L415I	probably benign	Het
Rapgef6	A	G	11: 54,522,075 (GRCm39)	T291A	probably damaging	Het
Rb1	A	G	14: 73,517,692 (GRCm39)	I238T	probably benign	Het
Rp1	G	A	1: 4,418,575 (GRCm39)	H846Y	probably damaging	Het
Rpgrip1	T	A	14: 52,374,079 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,049,313 (GRCm39)	D258G	unknown	Het
Ska1	A	T	18: 74,339,920 (GRCm39)	C9S	probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc43a1	G	A	2: 84,680,175 (GRCm39)	R107Q	probably damaging	Het
Slc44a3	T	A	3: 121,319,319 (GRCm39)	N141Y	probably damaging	Het
Slit1	A	T	19: 41,625,922 (GRCm39)	D613E	probably benign	Het
Spata22	A	T	11: 73,231,079 (GRCm39)	Y111F	probably benign	Het
Tchh	C	A	3: 93,351,225 (GRCm39)	R222S	unknown	Het
Tekt3	A	G	11: 62,985,523 (GRCm39)	D443G	possibly damaging	Het
Tns2	A	T	15: 102,015,554 (GRCm39)	Q144L	possibly damaging	Het
Troap	T	C	15: 98,976,698 (GRCm39)	V274A	possibly damaging	Het
Ugt1a8	A	G	1: 88,015,995 (GRCm39)	Y136C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,458 (GRCm39)	M604L	probably benign	Het
Vps13b	T	A	15: 35,597,639 (GRCm39)	W1060R	probably damaging	Het
Wdfy3	A	G	5: 102,042,926 (GRCm39)	S1942P	probably damaging	Het
Wdr90	G	A	17: 26,065,577 (GRCm39)	T1596I	probably damaging	Het
Zc3h4	A	G	7: 16,150,865 (GRCm39)	E69G	possibly damaging	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
R0079:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
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	155,257,621 (GRCm39)	missense	probably damaging	0.96
R0285:Ncoa6	UTSW	2	155,250,211 (GRCm39)	frame shift	probably null
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
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

PCR Primer
(F):5'- AGGAGCCTGGACTATTGGTC -3'
(R):5'- TATGAAAGGATCACAGCCAAGC -3'

Sequencing Primer
(F):5'- GCCTGGACTATTGGTCAAAAGG -3'
(R):5'- GATCACAGCCAAGCACAATTCCTG -3'

Posted On

2014-09-18