Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03062:Ncoa4'

409485

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncoa4

Ensembl Gene

ENSMUSG00000056234

Gene Name

nuclear receptor coactivator 4

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL03062

Quality Score

Status

Chromosome

Chromosomal Location

32159865-32179855 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32173420 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 72 (M72K)

Ref Sequence

ENSEMBL: ENSMUSP00000126222 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111994
AA Change: M167K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234
AA Change: M167K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163336
AA Change: M167K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234
AA Change: M167K

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: 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

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

possibly damaging
Transcript: ENSMUST00000168385
AA Change: M72K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126222
Gene: ENSMUSG00000056234
AA Change: M72K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169722
AA Change: M167K

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129917
Gene: ENSMUSG00000056234
AA Change: M167K

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: ENSMUST00000226479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228779

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,038,517		probably benign	Het
Abcb10	C	T	8: 123,954,315	R714Q	possibly damaging	Het
Abcb5	T	A	12: 118,936,087	I282L	probably benign	Het
Aox1	A	T	1: 58,078,465	E835D	probably benign	Het
Arhgap17	C	T	7: 123,321,874		probably null	Het
Calcr	C	T	6: 3,693,718	V359I	probably benign	Het
Chd9	T	A	8: 91,015,267		probably benign	Het
Col28a1	T	C	6: 8,017,029		probably benign	Het
Dnajc11	A	G	4: 151,970,861	E171G	possibly damaging	Het
Efhd1	T	C	1: 87,264,684	F79L	possibly damaging	Het
Fam83a	A	T	15: 57,993,077		probably null	Het
Fam98a	A	G	17: 75,540,105		probably benign	Het
Ficd	A	G	5: 113,738,253	Y163C	probably damaging	Het
Filip1l	T	C	16: 57,506,804	S66P	probably damaging	Het
Fmo5	A	G	3: 97,635,593	Y73C	probably damaging	Het
Galnt12	C	A	4: 47,122,566	R574S	possibly damaging	Het
Klc3	C	A	7: 19,395,062	G461W	probably damaging	Het
Lmo7	A	T	14: 101,912,079	T973S	possibly damaging	Het
Loxl1	C	A	9: 58,311,910	G326V	possibly damaging	Het
Lrrc24	A	G	15: 76,718,304	V127A	probably benign	Het
Lyrm1	T	C	7: 119,916,131		probably benign	Het
Med28	G	A	5: 45,522,469	V65I	probably damaging	Het
Mgat4c	T	C	10: 102,388,461	Y179H	probably damaging	Het
Micall1	A	C	15: 79,114,681	N58T	probably damaging	Het
Nutm1	T	C	2: 112,248,933	Q879R	probably benign	Het
Olfr1428	C	T	19: 12,109,148	V133I	probably benign	Het
Olfr870	T	A	9: 20,171,167	I135F	probably damaging	Het
Olfr965	T	A	9: 39,720,035	D269E	probably benign	Het
Phf11b	T	C	14: 59,324,924	I177M	probably damaging	Het
Pin1rt1	T	G	2: 104,714,707	I27L	probably benign	Het
Plxna2	T	C	1: 194,762,550	V750A	possibly damaging	Het
Pou5f1	A	T	17: 35,510,039	N126I	possibly damaging	Het
Ptprn	A	T	1: 75,247,873	H946Q	possibly damaging	Het
Rnf43	G	T	11: 87,732,304	G744*	probably null	Het
Rsbn1	C	A	3: 103,953,629		probably benign	Het
Sars2	T	A	7: 28,746,781	I145N	possibly damaging	Het
Sh3tc2	A	T	18: 62,011,880	E1135V	probably damaging	Het
Shroom1	A	G	11: 53,463,379	D42G	probably benign	Het
Sidt2	A	G	9: 45,942,683		probably null	Het
Slc39a8	T	C	3: 135,886,797		probably benign	Het
Slc9c1	T	C	16: 45,599,758	S1059P	probably benign	Het
Socs6	A	T	18: 88,869,846	M315K	probably benign	Het
Soga3	T	A	10: 29,198,949	F911Y	probably damaging	Het
Speer2	T	C	16: 69,857,977	E200G	probably damaging	Het
Sult2a5	T	A	7: 13,624,182		probably null	Het
Tmbim1	A	T	1: 74,291,699	I168N	possibly damaging	Het
Trim38	T	C	13: 23,782,963	V131A	probably damaging	Het
Ube2o	A	G	11: 116,541,642	S833P	probably damaging	Het
Uggt2	T	C	14: 119,075,346	I350M	probably damaging	Het
Unc80	A	G	1: 66,509,489	D640G	probably damaging	Het
Vmn2r13	A	G	5: 109,156,282	F761S	probably damaging	Het
Vmn2r54	C	T	7: 12,632,428	C193Y	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
R0613:Ncoa4	UTSW	14	32176552	missense	probably damaging	1.00
R1353:Ncoa4	UTSW	14	32170858	nonsense	probably null
R1395:Ncoa4	UTSW	14	32172841	intron	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
R4713:Ncoa4	UTSW	14	32176641	missense	probably benign	0.05
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

Posted On

2016-08-02