Mutagenetix > Incidental Mutation

Incidental Mutation 'R4713:Ncoa4'

353398

Institutional Source

Beutler Lab

Gene Symbol

Ncoa4

Ensembl Gene

ENSMUSG00000056234

Gene Name

nuclear receptor coactivator 4

Synonyms

MMRRC Submission

041601-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4713 (G1)

Quality Score

111

Status

Not validated

Chromosome

Chromosomal Location

32159865-32179855 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32176641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 473 (C473S)

Ref Sequence

ENSEMBL: ENSMUSP00000126071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013845] [ENSMUST00000111994] [ENSMUST00000163336] [ENSMUST00000163379] [ENSMUST00000164341] [ENSMUST00000168034] [ENSMUST00000168114] [ENSMUST00000168334] [ENSMUST00000168385] [ENSMUST00000169722] [ENSMUST00000170331] [ENSMUST00000226479] [ENSMUST00000226683]

AlphaFold

Q5U4H9

Predicted Effect

probably benign
Transcript: ENSMUST00000013845

SMART Domains

Protein: ENSMUSP00000013845
Gene: ENSMUSG00000013701

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
Pfam:Tim17	76	196	6.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111994
AA Change: C473S

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234
AA Change: C473S

Domain	Start	End	E-Value	Type
Pfam:ARA70	37	168	5e-44	PFAM
Pfam:ARA70	197	338	5.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163336
AA Change: C473S

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234
AA Change: C473S

Domain	Start	End	E-Value	Type
Pfam:ARA70	33	169	2.4e-28	PFAM
Pfam:ARA70	199	334	4.7e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163379

SMART Domains

Protein: ENSMUSP00000129688
Gene: ENSMUSG00000013701

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164341

SMART Domains

Protein: ENSMUSP00000126780
Gene: ENSMUSG00000056234

Domain	Start	End	E-Value	Type
Pfam:ARA70	37	99	3.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168034

SMART Domains

Protein: ENSMUSP00000129422
Gene: ENSMUSG00000056234

Domain	Start	End	E-Value	Type
Pfam:ARA70	45	131	1.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168114

SMART Domains

Protein: ENSMUSP00000131253
Gene: ENSMUSG00000056234

Domain	Start	End	E-Value	Type
Pfam:ARA70	64	105	2.2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168139

Predicted Effect

probably benign
Transcript: ENSMUST00000168334

SMART Domains

Protein: ENSMUSP00000128739
Gene: ENSMUSG00000056234

Domain	Start	End	E-Value	Type
Pfam:ARA70	37	96	1.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168385

SMART Domains

Protein: ENSMUSP00000126222
Gene: ENSMUSG00000056234

Domain	Start	End	E-Value	Type
Pfam:ARA70	1	73	8.2e-24	PFAM
Pfam:ARA70	102	205	2.9e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169722

SMART Domains

Protein: ENSMUSP00000129917
Gene: ENSMUSG00000056234

Domain	Start	End	E-Value	Type
Pfam:ARA70	37	168	6.5e-45	PFAM
Pfam:ARA70	196	337	6.3e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170331

SMART Domains

Protein: ENSMUSP00000126977
Gene: ENSMUSG00000013701

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227112

Predicted Effect

probably benign
Transcript: ENSMUST00000226683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227498

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mouse embryonic fibroblasts isolated from homozygous null mice exhibit abnormal DNA replication, decreased fibroblast proliferation, and early cellular replicative senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,547,532	T360K	probably damaging	Het
AW551984	T	C	9: 39,597,153	K356E	probably benign	Het
Bpifb2	T	A	2: 153,881,193	V123E	probably damaging	Het
Cacna1a	T	G	8: 84,549,514	F532V	probably damaging	Het
Cct8	C	A	16: 87,487,688	E204*	probably null	Het
Cd163	T	A	6: 124,317,618		probably null	Het
Cep152	C	A	2: 125,587,948	A685S	possibly damaging	Het
Chdh	A	G	14: 30,036,841	D581G	probably benign	Het
Cnpy3	A	C	17: 46,747,465	Y77*	probably null	Het
Col5a3	T	C	9: 20,793,574	E762G	unknown	Het
Creb3	A	G	4: 43,563,247	T115A	probably benign	Het
Dlat	G	T	9: 50,644,481	A412E	probably benign	Het
Dnah2	T	C	11: 69,476,688	N1789S	probably damaging	Het
Dzank1	C	T	2: 144,491,804	E370K	probably benign	Het
Eif3m	A	T	2: 105,006,839		probably null	Het
Gimap8	A	T	6: 48,658,986	M562L	probably benign	Het
Gm15448	G	T	7: 3,822,681	Y396*	probably null	Het
Gprc6a	T	A	10: 51,631,457		probably benign	Het
Gsr	T	G	8: 33,680,319		probably null	Het
Gstcd	A	G	3: 132,983,099	V630A	probably damaging	Het
Hip1r	T	C	5: 123,989,980	I116T	probably benign	Het
Hivep3	A	G	4: 120,131,803	E1817G	probably damaging	Het
Inpp5f	A	C	7: 128,663,725	T135P	probably damaging	Het
Ism2	A	G	12: 87,285,027		silent	Het
Itga11	A	G	9: 62,765,788	D784G	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Itpr2	T	C	6: 146,396,958	E10G	probably damaging	Het
Knl1	A	T	2: 119,069,137	K440*	probably null	Het
Lonp2	T	C	8: 86,713,315	S648P	probably damaging	Het
Lrba	T	C	3: 86,359,868	S1622P	probably benign	Het
Lrp2	G	T	2: 69,487,966	A2047D	probably damaging	Het
Mcm3	G	A	1: 20,803,577	T773I	probably benign	Het
Mfsd7a	T	C	5: 108,442,079	T486A	probably damaging	Het
Mki67	A	G	7: 135,695,469	V2612A	probably benign	Het
Mnx1	C	A	5: 29,478,131	G49W	probably damaging	Het
Muc5b	T	A	7: 141,849,079	Y673*	probably null	Het
Myo15	A	G	11: 60,479,930	H1172R	probably benign	Het
Myo1g	T	C	11: 6,516,080	K363R	probably null	Het
Nefh	T	C	11: 4,939,656	T988A	unknown	Het
Nwd2	T	A	5: 63,804,460	D462E	probably benign	Het
Olfr332	T	C	11: 58,490,087	T223A	probably benign	Het
Plec	T	C	15: 76,181,067	E1466G	unknown	Het
Prl3d2	G	T	13: 27,122,396	M35I	probably benign	Het
Reln	T	A	5: 22,152,463	I202F	probably benign	Het
Rhot1	T	A	11: 80,225,602	D78E	probably benign	Het
Rsph3b	T	C	17: 6,905,129		probably null	Het
Scn10a	C	T	9: 119,609,651	M1717I	probably damaging	Het
Sema6a	T	A	18: 47,249,296	H728L	possibly damaging	Het
Slc26a3	G	T	12: 31,457,080	A345S	possibly damaging	Het
Slc35d2	A	G	13: 64,099,283	V261A	possibly damaging	Het
Ssmem1	A	G	6: 30,519,514	D66G	probably damaging	Het
Sult2a8	A	T	7: 14,425,477	N72K	probably benign	Het
Tbx10	T	C	19: 3,996,921	L108P	probably damaging	Het
Tex14	T	C	11: 87,536,865	S48P	probably damaging	Het
Tmie	A	G	9: 110,867,528	L95P	probably damaging	Het
Tom1l2	C	G	11: 60,270,433	R84P	probably damaging	Het
Trpm3	T	A	19: 22,889,435	D543E	possibly damaging	Het
Vipr2	A	C	12: 116,080,131	R49S	probably benign	Het
Vps8	A	T	16: 21,442,439	S110C	probably damaging	Het
Zfp791	T	A	8: 85,110,968	N89I	probably damaging	Het

Other mutations in Ncoa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Ncoa4	APN	14	32172927	missense	probably benign	0.19
IGL02963:Ncoa4	APN	14	32176509	missense	probably damaging	1.00
IGL03062:Ncoa4	APN	14	32173420	missense	possibly damaging	0.89
R0613:Ncoa4	UTSW	14	32176552	missense	probably damaging	1.00
R1353:Ncoa4	UTSW	14	32170858	nonsense	probably null
R1395:Ncoa4	UTSW	14	32172841	splice site	probably null
R1430:Ncoa4	UTSW	14	32176722	missense	probably benign	0.00
R1509:Ncoa4	UTSW	14	32173434	missense	probably damaging	1.00
R1541:Ncoa4	UTSW	14	32176888	missense	probably damaging	1.00
R2292:Ncoa4	UTSW	14	32173456	missense	probably damaging	0.98
R4610:Ncoa4	UTSW	14	32176725	missense	probably benign	0.01
R5750:Ncoa4	UTSW	14	32177307	nonsense	probably null
R5889:Ncoa4	UTSW	14	32166659	unclassified	probably benign
R5928:Ncoa4	UTSW	14	32166721	critical splice donor site	probably null
R6738:Ncoa4	UTSW	14	32170793	missense	probably benign
R7065:Ncoa4	UTSW	14	32172900	nonsense	probably null
R7165:Ncoa4	UTSW	14	32175983	missense	probably damaging	0.97
R7257:Ncoa4	UTSW	14	32177369	missense	probably damaging	1.00
R8373:Ncoa4	UTSW	14	32176936	missense	probably damaging	1.00
R8919:Ncoa4	UTSW	14	32172891	missense	probably damaging	1.00
R9654:Ncoa4	UTSW	14	32174508	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGCCCAGAACCATCAGGAC -3'
(R):5'- AAGCATCTCTTTGCCAGCTC -3'

Sequencing Primer
(F):5'- AGAACCATCAGGACACATGG -3'
(R):5'- CTCTCCTCTGTATTAGGCACG -3'

Posted On

2015-10-21