Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Ncoa6'

515675

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

044538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155232585-155315741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155237736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2024 (S2024P)

Ref Sequence

ENSEMBL: ENSMUSP00000105295 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043126
AA Change: S2024P

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

SMART Domains

Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369
AA Change: S2024P

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: S2024P

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

SMART Domains

Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369
AA Change: S2024P

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

noncoding transcript
Transcript: ENSMUST00000143909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146942

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,198,959 (GRCm39)	Q78P	probably benign	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Cntd1	A	T	11: 101,176,577 (GRCm39)	I225F	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,575,879 (GRCm39)	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Gm13941	T	C	2: 110,928,734 (GRCm39)	Q108R	unknown	Het
Hcn3	C	T	3: 89,058,240 (GRCm39)	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Ism2	T	C	12: 87,329,145 (GRCm39)	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,245,524 (GRCm39)	Y265H	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Prr11	G	A	11: 86,989,564 (GRCm39)	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,087,274 (GRCm39)	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp1007	G	A	5: 109,823,885 (GRCm39)	P522S	possibly damaging	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	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
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
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'- TGCTAACGAACTGACAGTGGAC -3'
(R):5'- CTGAATCCCTGGGCTTGAATAG -3'

Sequencing Primer
(F):5'- CACAGAGACTTGACAGGAACTTCTG -3'
(R):5'- CCCTTAACCTTCTTGGAAAC -3'

Posted On

2018-05-04