Mutagenetix > Incidental Mutation

Incidental Mutation 'R6155:Ncoa6'

489501

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

044302-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155390656-155473894 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155407448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1312 (D1312G)

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: D1312G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369
AA Change: D1312G

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: D1312G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369
AA Change: D1312G

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: D1312G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118113
Gene: ENSMUSG00000038369
AA Change: D1312G

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

0.0629

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 104,963,644 (GRCm38)	Y319C	probably benign	Het
Actn4	A	C	7: 28,896,141 (GRCm38)	I763S	probably damaging	Het
Actr8	G	A	14: 29,978,589 (GRCm38)		probably null	Het
Adrb1	T	C	19: 56,722,904 (GRCm38)	L178P	probably damaging	Het
Afap1	A	G	5: 35,935,609 (GRCm38)	Y19C	unknown	Het
Ankrd36	A	G	11: 5,687,442 (GRCm38)	E1337G	probably benign	Het
Arl4a	A	C	12: 40,036,520 (GRCm38)	V76G	probably damaging	Het
B230118H07Rik	A	T	2: 101,576,010 (GRCm38)		probably null	Het
Bmp1	A	T	14: 70,508,007 (GRCm38)	I246K	probably damaging	Het
Camk4	A	T	18: 32,939,447 (GRCm38)	T18S	unknown	Het
Cep152	T	C	2: 125,581,700 (GRCm38)	H927R	probably benign	Het
Clca3a2	A	G	3: 144,819,357 (GRCm38)	I38T	probably damaging	Het
Clec2g	A	C	6: 128,980,273 (GRCm38)	T54P	probably damaging	Het
Cox20	A	G	1: 178,321,797 (GRCm38)	E31G	possibly damaging	Het
Crispld1	T	A	1: 17,753,017 (GRCm38)	H407Q	probably benign	Het
Csmd1	T	C	8: 15,903,231 (GRCm38)	I3417V	probably benign	Het
Dhtkd1	A	C	2: 5,910,359 (GRCm38)	H700Q	probably null	Het
Dnah10	G	A	5: 124,770,599 (GRCm38)	V1516M	probably damaging	Het
Dnah10	A	G	5: 124,785,175 (GRCm38)	T2165A	probably damaging	Het
Dock2	C	G	11: 34,294,123 (GRCm38)	M1072I	probably benign	Het
F11	T	A	8: 45,252,082 (GRCm38)	T141S	probably damaging	Het
Gabra6	T	A	11: 42,316,523 (GRCm38)	I245F	probably damaging	Het
Gm13101	T	A	4: 143,965,142 (GRCm38)	H337L	probably benign	Het
Gm8909	G	A	17: 36,167,507 (GRCm38)	A211V	possibly damaging	Het
Herc1	T	A	9: 66,433,423 (GRCm38)	C1685S	possibly damaging	Het
Il20	G	T	1: 130,910,740 (GRCm38)	D73E	probably damaging	Het
Ireb2	C	A	9: 54,886,527 (GRCm38)	P247Q	probably damaging	Het
Kcng3	T	C	17: 83,588,378 (GRCm38)	I220V	probably benign	Het
Lce1j	T	G	3: 92,789,072 (GRCm38)	Q133P	unknown	Het
Lgals9	C	T	11: 78,963,505 (GRCm38)	A287T	probably benign	Het
Lrrc52	A	G	1: 167,466,727 (GRCm38)		probably benign	Het
Map3k5	A	T	10: 20,118,441 (GRCm38)	H1027L	probably benign	Het
Morc3	A	G	16: 93,862,425 (GRCm38)	D407G	possibly damaging	Het
Myom1	T	C	17: 71,108,695 (GRCm38)		probably null	Het
Ncapg2	T	C	12: 116,438,011 (GRCm38)	F673S	possibly damaging	Het
Nkx1-1	A	T	5: 33,431,051 (GRCm38)	F298I	probably damaging	Het
Npas2	G	A	1: 39,287,476 (GRCm38)	R14Q	probably damaging	Het
Npas4	C	T	19: 4,986,870 (GRCm38)	C422Y	probably damaging	Het
Olfr1230	A	G	2: 89,296,421 (GRCm38)	L283S	probably damaging	Het
Olfr1381	T	A	11: 49,552,584 (GRCm38)	I279N	possibly damaging	Het
Olfr481	T	C	7: 108,081,286 (GRCm38)	V164A	probably benign	Het
Olfr749	T	C	14: 50,736,619 (GRCm38)	D181G	probably benign	Het
Pcdhga4	T	C	18: 37,686,493 (GRCm38)	I365T	probably damaging	Het
Pear1	T	A	3: 87,759,568 (GRCm38)	T37S	probably damaging	Het
Pkn2	A	T	3: 142,853,693 (GRCm38)	F24I	probably benign	Het
Plcb3	G	A	19: 6,966,165 (GRCm38)	A122V	probably damaging	Het
Pnliprp1	T	C	19: 58,730,133 (GRCm38)		probably null	Het
Psmb3	T	A	11: 97,712,452 (GRCm38)	F164I	probably damaging	Het
Ptch2	T	A	4: 117,096,908 (GRCm38)	F45Y	probably damaging	Het
Ptpn23	C	A	9: 110,387,781 (GRCm38)		probably benign	Het
Pusl1	A	G	4: 155,890,548 (GRCm38)	S199P	probably damaging	Het
Rasgrp2	C	A	19: 6,402,501 (GRCm38)	L35I	probably damaging	Het
Rictor	T	C	15: 6,793,977 (GRCm38)	L1545P	probably benign	Het
Rtn4r	A	T	16: 18,151,394 (GRCm38)	M229L	probably benign	Het
Ruvbl1	A	T	6: 88,479,125 (GRCm38)		probably null	Het
Slc35b3	A	T	13: 38,944,596 (GRCm38)	S30T	probably damaging	Het
Sorcs3	T	C	19: 48,398,697 (GRCm38)	V207A	possibly damaging	Het
Sox13	A	G	1: 133,393,267 (GRCm38)	S2P	probably damaging	Het
Sptbn1	A	C	11: 30,137,403 (GRCm38)	L999R	probably damaging	Het
Taf4	A	G	2: 179,913,524 (GRCm38)	V1015A	probably damaging	Het
Top3b	T	C	16: 16,891,509 (GRCm38)	L687P	probably damaging	Het
Tpp2	T	A	1: 43,956,489 (GRCm38)	V268E	probably damaging	Het
Ttc6	T	C	12: 57,737,616 (GRCm38)	Y1824H	possibly damaging	Het
Txk	A	G	5: 72,700,726 (GRCm38)	Y360H	probably damaging	Het
Vmn2r57	T	C	7: 41,428,690 (GRCm38)	I115V	probably benign	Het
Vmn2r98	T	C	17: 19,065,881 (GRCm38)	S214P	possibly damaging	Het
Zbtb48	T	C	4: 152,022,038 (GRCm38)		probably null	Het
Zzz3	A	G	3: 152,427,682 (GRCm38)	I126V	possibly damaging	Het

Other mutations in Ncoa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Ncoa6	APN	2	155,406,208 (GRCm38)	missense	probably damaging	0.99
IGL00849:Ncoa6	APN	2	155,421,688 (GRCm38)	missense	possibly damaging	0.89
IGL00933:Ncoa6	APN	2	155,415,397 (GRCm38)	missense	probably damaging	1.00
IGL00981:Ncoa6	APN	2	155,406,179 (GRCm38)	missense	probably damaging	0.98
IGL01420:Ncoa6	APN	2	155,407,587 (GRCm38)	missense	probably damaging	1.00
IGL02160:Ncoa6	APN	2	155,421,083 (GRCm38)	missense	possibly damaging	0.65
IGL03049:Ncoa6	APN	2	155,419,014 (GRCm38)	missense	probably damaging	1.00
IGL03194:Ncoa6	APN	2	155,415,868 (GRCm38)	missense	possibly damaging	0.94
IGL03269:Ncoa6	APN	2	155,406,489 (GRCm38)	missense	probably damaging	0.97
IGL03299:Ncoa6	APN	2	155,407,287 (GRCm38)	missense	probably damaging	0.97
IGL03306:Ncoa6	APN	2	155,405,507 (GRCm38)	missense	probably benign	0.30
alcoa	UTSW	2	155,402,664 (GRCm38)	unclassified	probably benign
Aluminum	UTSW	2	155,399,693 (GRCm38)	critical splice acceptor site	probably null
balboa	UTSW	2	155,406,949 (GRCm38)	missense	probably benign	0.05
mauna_loa	UTSW	2	155,415,227 (GRCm38)	missense	probably damaging	0.99
PIT4466001:Ncoa6	UTSW	2	155,405,657 (GRCm38)	missense	probably benign
R0011:Ncoa6	UTSW	2	155,408,291 (GRCm38)	frame shift	probably null
R0014:Ncoa6	UTSW	2	155,438,043 (GRCm38)	missense	possibly damaging	0.86
R0079:Ncoa6	UTSW	2	155,408,291 (GRCm38)	frame shift	probably null
R0080:Ncoa6	UTSW	2	155,408,291 (GRCm38)	frame shift	probably null
R0081:Ncoa6	UTSW	2	155,408,291 (GRCm38)	frame shift	probably null
R0164:Ncoa6	UTSW	2	155,408,291 (GRCm38)	frame shift	probably null
R0166:Ncoa6	UTSW	2	155,408,291 (GRCm38)	frame shift	probably null
R0172:Ncoa6	UTSW	2	155,408,291 (GRCm38)	frame shift	probably null
R0173:Ncoa6	UTSW	2	155,408,291 (GRCm38)	frame shift	probably null
R0245:Ncoa6	UTSW	2	155,391,211 (GRCm38)	missense	probably benign	0.00
R0284:Ncoa6	UTSW	2	155,408,291 (GRCm38)	frame shift	probably null
R0285:Ncoa6	UTSW	2	155,415,701 (GRCm38)	missense	probably damaging	0.96
R0285:Ncoa6	UTSW	2	155,408,291 (GRCm38)	frame shift	probably null
R0288:Ncoa6	UTSW	2	155,408,291 (GRCm38)	frame shift	probably null
R0539:Ncoa6	UTSW	2	155,415,697 (GRCm38)	missense	probably benign	0.08
R0652:Ncoa6	UTSW	2	155,391,211 (GRCm38)	missense	probably benign	0.00
R0781:Ncoa6	UTSW	2	155,411,520 (GRCm38)	splice site	probably benign
R1053:Ncoa6	UTSW	2	155,434,040 (GRCm38)	missense	probably damaging	1.00
R1110:Ncoa6	UTSW	2	155,411,520 (GRCm38)	splice site	probably benign
R1420:Ncoa6	UTSW	2	155,421,153 (GRCm38)	nonsense	probably null
R1521:Ncoa6	UTSW	2	155,415,222 (GRCm38)	missense	possibly damaging	0.78
R1541:Ncoa6	UTSW	2	155,415,304 (GRCm38)	missense	probably benign	0.35
R1677:Ncoa6	UTSW	2	155,402,664 (GRCm38)	unclassified	probably benign
R1858:Ncoa6	UTSW	2	155,421,639 (GRCm38)	missense	probably benign	0.13
R1954:Ncoa6	UTSW	2	155,406,821 (GRCm38)	missense	possibly damaging	0.94
R1955:Ncoa6	UTSW	2	155,406,821 (GRCm38)	missense	possibly damaging	0.94
R2040:Ncoa6	UTSW	2	155,406,080 (GRCm38)	missense	probably damaging	0.98
R2087:Ncoa6	UTSW	2	155,406,159 (GRCm38)	nonsense	probably null
R2159:Ncoa6	UTSW	2	155,407,713 (GRCm38)	missense	probably damaging	1.00
R2278:Ncoa6	UTSW	2	155,407,650 (GRCm38)	missense	possibly damaging	0.94
R2696:Ncoa6	UTSW	2	155,438,015 (GRCm38)	missense	probably benign	0.45
R2891:Ncoa6	UTSW	2	155,437,961 (GRCm38)	missense	possibly damaging	0.86
R3618:Ncoa6	UTSW	2	155,407,789 (GRCm38)	missense	possibly damaging	0.95
R3747:Ncoa6	UTSW	2	155,411,641 (GRCm38)	missense	probably benign	0.01
R3778:Ncoa6	UTSW	2	155,421,195 (GRCm38)	missense	probably damaging	1.00
R3784:Ncoa6	UTSW	2	155,407,757 (GRCm38)	missense	probably damaging	1.00
R3802:Ncoa6	UTSW	2	155,405,564 (GRCm38)	missense	probably benign
R3820:Ncoa6	UTSW	2	155,406,938 (GRCm38)	missense	probably damaging	1.00
R3821:Ncoa6	UTSW	2	155,406,938 (GRCm38)	missense	probably damaging	1.00
R3822:Ncoa6	UTSW	2	155,406,938 (GRCm38)	missense	probably damaging	1.00
R3870:Ncoa6	UTSW	2	155,415,557 (GRCm38)	splice site	probably null
R4037:Ncoa6	UTSW	2	155,407,370 (GRCm38)	missense	probably damaging	0.98
R4488:Ncoa6	UTSW	2	155,407,476 (GRCm38)	missense	possibly damaging	0.94
R4719:Ncoa6	UTSW	2	155,391,161 (GRCm38)	unclassified	probably benign
R4732:Ncoa6	UTSW	2	155,421,301 (GRCm38)	missense	probably damaging	1.00
R4733:Ncoa6	UTSW	2	155,421,301 (GRCm38)	missense	probably damaging	1.00
R4829:Ncoa6	UTSW	2	155,415,227 (GRCm38)	missense	probably damaging	0.99
R4835:Ncoa6	UTSW	2	155,407,133 (GRCm38)	missense	possibly damaging	0.46
R4883:Ncoa6	UTSW	2	155,406,767 (GRCm38)	missense	probably benign	0.29
R4967:Ncoa6	UTSW	2	155,421,332 (GRCm38)	missense	possibly damaging	0.80
R5021:Ncoa6	UTSW	2	155,406,949 (GRCm38)	missense	probably benign	0.05
R5234:Ncoa6	UTSW	2	155,438,013 (GRCm38)	missense	probably benign	0.01
R5356:Ncoa6	UTSW	2	155,421,192 (GRCm38)	missense	probably damaging	0.99
R5358:Ncoa6	UTSW	2	155,406,987 (GRCm38)	missense	probably damaging	0.97
R5375:Ncoa6	UTSW	2	155,433,995 (GRCm38)	missense	probably benign	0.16
R5412:Ncoa6	UTSW	2	155,407,781 (GRCm38)	missense	possibly damaging	0.95
R5579:Ncoa6	UTSW	2	155,406,677 (GRCm38)	missense	probably damaging	1.00
R5618:Ncoa6	UTSW	2	155,437,897 (GRCm38)	missense	possibly damaging	0.86
R5641:Ncoa6	UTSW	2	155,421,836 (GRCm38)	missense	probably benign	0.22
R5757:Ncoa6	UTSW	2	155,411,608 (GRCm38)	missense	probably damaging	1.00
R5761:Ncoa6	UTSW	2	155,408,141 (GRCm38)	missense	probably benign	0.11
R5778:Ncoa6	UTSW	2	155,406,768 (GRCm38)	missense	probably benign	0.01
R5852:Ncoa6	UTSW	2	155,405,499 (GRCm38)	missense	possibly damaging	0.88
R5940:Ncoa6	UTSW	2	155,415,865 (GRCm38)	missense	probably damaging	0.98
R6374:Ncoa6	UTSW	2	155,421,156 (GRCm38)	missense	probably damaging	1.00
R6389:Ncoa6	UTSW	2	155,395,816 (GRCm38)	missense	probably damaging	0.98
R6669:Ncoa6	UTSW	2	155,399,693 (GRCm38)	critical splice acceptor site	probably null
R7097:Ncoa6	UTSW	2	155,438,063 (GRCm38)	missense	probably benign	0.01
R7385:Ncoa6	UTSW	2	155,407,801 (GRCm38)	missense	probably damaging	1.00
R7963:Ncoa6	UTSW	2	155,405,996 (GRCm38)	missense	probably benign	0.30
R8356:Ncoa6	UTSW	2	155,406,252 (GRCm38)	missense	possibly damaging	0.59
R8698:Ncoa6	UTSW	2	155,415,121 (GRCm38)	missense	possibly damaging	0.94
R8859:Ncoa6	UTSW	2	155,406,468 (GRCm38)	missense	possibly damaging	0.63
R8870:Ncoa6	UTSW	2	155,421,158 (GRCm38)	missense	probably damaging	0.99
R9041:Ncoa6	UTSW	2	155,415,530 (GRCm38)	missense	possibly damaging	0.89
R9062:Ncoa6	UTSW	2	155,421,428 (GRCm38)	missense	probably benign	0.42
R9088:Ncoa6	UTSW	2	155,407,806 (GRCm38)	missense	probably damaging	0.98
R9225:Ncoa6	UTSW	2	155,407,521 (GRCm38)	missense	possibly damaging	0.95
R9445:Ncoa6	UTSW	2	155,408,143 (GRCm38)	missense	probably benign	0.01
R9497:Ncoa6	UTSW	2	155,406,318 (GRCm38)	missense	probably damaging	0.97
R9514:Ncoa6	UTSW	2	155,406,213 (GRCm38)	missense	probably benign	0.19
R9656:Ncoa6	UTSW	2	155,432,926 (GRCm38)	missense	probably damaging	1.00
R9720:Ncoa6	UTSW	2	155,408,384 (GRCm38)	missense	probably damaging	0.98
R9732:Ncoa6	UTSW	2	155,402,716 (GRCm38)	missense	probably damaging	0.99
RF033:Ncoa6	UTSW	2	155,421,731 (GRCm38)	small deletion	probably benign
RF040:Ncoa6	UTSW	2	155,421,731 (GRCm38)	small deletion	probably benign
RF048:Ncoa6	UTSW	2	155,421,712 (GRCm38)	small deletion	probably benign
X0017:Ncoa6	UTSW	2	155,406,540 (GRCm38)	missense	probably benign	0.05
Z1176:Ncoa6	UTSW	2	155,421,302 (GRCm38)	missense	probably damaging	0.99
Z1177:Ncoa6	UTSW	2	155,421,218 (GRCm38)	missense	probably damaging	1.00
Z1177:Ncoa6	UTSW	2	155,406,142 (GRCm38)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TAGGCAGCTCCATGTTCTGC -3'
(R):5'- TCTCCAGAGAGACTCAATGCTTCC -3'

Sequencing Primer
(F):5'- TTCTGCAACATGGTTGTGC -3'
(R):5'- AGAGAGACTCAATGCTTCCATAGC -3'

Posted On

2017-10-10