Mutagenetix > Incidental Mutation

Incidental Mutation 'R9656:Ncoa6'

727304

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9656 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155232585-155315741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155274846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 135 (I135T)

Ref Sequence

ENSEMBL: ENSMUSP00000045386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043126] [ENSMUST00000109669] [ENSMUST00000109670] [ENSMUST00000123293]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043126
AA Change: I135T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369
AA Change: I135T

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: ENSMUST00000109669
AA Change: I135T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105294
Gene: ENSMUSG00000038369
AA Change: I135T

Domain	Start	End	E-Value	Type
Pfam:Nucleic_acid_bd	45	195	2.6e-61	PFAM
SCOP:d1lsha3	239	321	5e-3	SMART
low complexity region	375	383	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109670
AA Change: I135T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369
AA Change: I135T

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: I135T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118113
Gene: ENSMUSG00000038369
AA Change: I135T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	G	A	8: 10,037,991 (GRCm39)	G196E	possibly damaging	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
Atxn2	C	T	5: 121,922,061 (GRCm39)	T635I	possibly damaging	Het
Bbs10	T	A	10: 111,135,545 (GRCm39)	N219K	probably benign	Het
Bsn	T	A	9: 107,994,407 (GRCm39)	T623S	probably benign	Het
Btnl9	T	C	11: 49,060,008 (GRCm39)	D580G	probably damaging	Het
Cckar	A	G	5: 53,857,318 (GRCm39)	L364P	probably damaging	Het
Ccn5	A	G	2: 163,670,985 (GRCm39)	D164G	probably benign	Het
Cfap46	A	T	7: 139,235,816 (GRCm39)	M631K		Het
Col1a1	T	A	11: 94,839,372 (GRCm39)	S1006T	unknown	Het
Cpe	T	C	8: 65,047,980 (GRCm39)	Y428C	probably damaging	Het
Cyp2d26	C	A	15: 82,677,059 (GRCm39)	V122L	probably benign	Het
Fam114a1	T	C	5: 65,163,246 (GRCm39)	I181T	probably benign	Het
Fam83b	A	G	9: 76,452,863 (GRCm39)	V68A	probably benign	Het
Fanca	A	C	8: 124,031,482 (GRCm39)	V403G	probably benign	Het
Grin2a	T	C	16: 9,397,471 (GRCm39)	H872R	possibly damaging	Het
Grpel2	G	T	18: 61,859,361 (GRCm39)	R4S	probably benign	Het
Gstm1	T	C	3: 107,925,072 (GRCm39)	Y7C	probably damaging	Het
Hace1	A	T	10: 45,547,545 (GRCm39)	I497F	probably benign	Het
Hspg2	T	C	4: 137,279,196 (GRCm39)	V3093A	probably benign	Het
Ighv3-4	A	T	12: 114,217,295 (GRCm39)	F99I	possibly damaging	Het
Ints3	T	C	3: 90,299,839 (GRCm39)	M963V	probably null	Het
Krt12	T	C	11: 99,309,471 (GRCm39)	E263G		Het
L1td1	T	C	4: 98,622,223 (GRCm39)	F262L	probably benign	Het
Lrp2bp	A	G	8: 46,466,158 (GRCm39)	H110R	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Nfatc3	G	A	8: 106,830,766 (GRCm39)	R695H	probably damaging	Het
Nkx1-2	T	A	7: 132,201,228 (GRCm39)	K10*	probably null	Het
Or2t44	G	A	11: 58,677,635 (GRCm39)	A192T	possibly damaging	Het
Or4f54	A	T	2: 111,122,633 (GRCm39)	T7S	probably benign	Het
Or5b110-ps1	T	C	19: 13,260,035 (GRCm39)	H129R	possibly damaging	Het
Or5b21	A	G	19: 12,839,247 (GRCm39)	Y36C	probably damaging	Het
Otog	A	G	7: 45,959,567 (GRCm39)	T719A	probably damaging	Het
Prkdc	T	G	16: 15,617,818 (GRCm39)	I3216M	probably benign	Het
Pygm	A	G	19: 6,438,187 (GRCm39)	D252G	probably benign	Het
Rae1	T	A	2: 172,854,590 (GRCm39)	Y332*	probably null	Het
Rbm12	A	T	2: 155,940,121 (GRCm39)	D50E	unknown	Het
Rbm6	G	A	9: 107,656,778 (GRCm39)	R1000W	probably damaging	Het
Rd3l	A	T	12: 111,946,614 (GRCm39)	V54E	possibly damaging	Het
Rft1	T	C	14: 30,404,714 (GRCm39)	V370A	probably benign	Het
Rfx8	T	C	1: 39,709,679 (GRCm39)	I449M	probably benign	Het
Satb1	A	T	17: 52,112,264 (GRCm39)	S117T	possibly damaging	Het
Slc24a2	T	C	4: 86,968,144 (GRCm39)	Y370C	probably damaging	Het
Slc5a4b	C	A	10: 75,944,391 (GRCm39)	V85L	probably damaging	Het
Snrpn	A	T	7: 59,635,715 (GRCm39)	V95E	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Spata33	A	T	8: 123,948,758 (GRCm39)	N130I	possibly damaging	Het
Spmip2	T	A	3: 79,313,183 (GRCm39)	F86I	probably benign	Het
Tap1	A	G	17: 34,412,525 (GRCm39)	S521G	probably damaging	Het
Tbc1d13	C	T	2: 30,032,429 (GRCm39)	T180I	possibly damaging	Het
Tgm7	G	A	2: 120,940,191 (GRCm39)		probably benign	Het
Tiam1	A	G	16: 89,664,459 (GRCm39)	M583T	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn1r43	A	T	6: 89,847,440 (GRCm39)	H15Q	possibly damaging	Het
Zfp329	A	T	7: 12,544,417 (GRCm39)	V369E	probably damaging	Het
Zfp467	T	A	6: 48,419,603 (GRCm39)	E35V	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
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
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'- GTGAGTATGCTATACACCTCACC -3'
(R):5'- TCATGAATCCAGAGCTAGACTG -3'

Sequencing Primer
(F):5'- TATGCTATACACCTCACCTATATGAC -3'
(R):5'- TCCAGAGCTAGACTGAACTATAAGG -3'

Posted On

2022-10-06