Mutagenetix > Incidental Mutation

Incidental Mutation 'R4037:Ncoa6'

313743

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

040964-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4037 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155232585-155315741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155249290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 1338 (S1338L)

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 damaging
Transcript: ENSMUST00000043126
AA Change: S1338L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369
AA Change: S1338L

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 damaging
Transcript: ENSMUST00000109670
AA Change: S1338L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369
AA Change: S1338L

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: S1338L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118113
Gene: ENSMUSG00000038369
AA Change: S1338L

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

93% (37/40)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	G	15: 64,597,319 (GRCm39)	F881L	probably benign	Het
Capn6	A	G	X: 142,590,859 (GRCm39)	W291R	probably damaging	Het
Cdc27	T	C	11: 104,398,033 (GRCm39)	I776V	probably damaging	Het
Cpne5	C	T	17: 29,378,087 (GRCm39)	R564H	unknown	Het
Crnkl1	T	A	2: 145,774,247 (GRCm39)	D72V	possibly damaging	Het
Dcc	A	G	18: 72,483,468 (GRCm39)	L17P	possibly damaging	Het
Dhcr24	T	C	4: 106,431,075 (GRCm39)	F255L	probably benign	Het
Eef2kmt	A	T	16: 5,063,135 (GRCm39)	V335D	probably damaging	Het
Efcc1	C	T	6: 87,708,490 (GRCm39)	Q206*	probably null	Het
Glb1l3	A	C	9: 26,740,343 (GRCm39)	M329R	probably damaging	Het
Gpr137c	C	A	14: 45,457,687 (GRCm39)	L80I	probably damaging	Het
Hcls1	A	G	16: 36,776,987 (GRCm39)	T226A	possibly damaging	Het
Hmcn1	T	A	1: 150,648,253 (GRCm39)	T678S	probably benign	Het
Hspa2	T	C	12: 76,452,542 (GRCm39)	V412A	probably damaging	Het
Hspb8	A	G	5: 116,547,403 (GRCm39)	V193A	probably benign	Het
Man1c1	C	T	4: 134,320,650 (GRCm39)	D217N	probably damaging	Het
Metrn	T	C	17: 26,013,984 (GRCm39)	T281A	probably benign	Het
Mmachc	T	A	4: 116,563,215 (GRCm39)	T47S	probably damaging	Het
Ogfrl1	T	C	1: 23,418,045 (GRCm39)		probably benign	Het
Or4a73	C	T	2: 89,421,379 (GRCm39)	V27I	probably benign	Het
Or4c113	A	G	2: 88,885,032 (GRCm39)	V246A	probably damaging	Het
Pax4	A	G	6: 28,443,882 (GRCm39)	I241T	probably benign	Het
Prkaa2	T	C	4: 104,908,444 (GRCm39)	N144D	probably damaging	Het
Rims1	T	C	1: 22,514,793 (GRCm39)	S537G	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ruvbl1	T	A	6: 88,450,117 (GRCm39)	M96K	probably damaging	Het
Sdk2	T	C	11: 113,685,881 (GRCm39)	I1880V	probably damaging	Het
Sis	T	C	3: 72,835,935 (GRCm39)	N885D	probably benign	Het
Skint5	G	T	4: 113,743,011 (GRCm39)	T352K	unknown	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc36a2	T	C	11: 55,055,101 (GRCm39)	D318G	probably benign	Het
Slc38a4	G	A	15: 96,894,923 (GRCm39)	A531V	probably benign	Het
Stat3	C	T	11: 100,783,951 (GRCm39)	G658R	probably damaging	Het
Tnfrsf11a	A	G	1: 105,755,464 (GRCm39)		probably null	Het
Tnk2	G	T	16: 32,489,614 (GRCm39)	A298S	probably damaging	Het
Vmn1r218	T	C	13: 23,320,971 (GRCm39)	V26A	possibly damaging	Het
Wipf3	G	A	6: 54,458,813 (GRCm39)	G56D	probably 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
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
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'- GGGATTCTGAGGATTAAGCCC -3'
(R):5'- TAGGGGCTTTGATCAACAGGG -3'

Sequencing Primer
(F):5'- GCCCAGTATTGTTAGGAAAGCTTC -3'
(R):5'- GGGCTTTGATCAACAGGGCTTAAATC -3'

Posted On

2015-04-30