Mutagenetix > Incidental Mutation

Incidental Mutation 'R5928:Ncoa4'

460044

Institutional Source

Beutler Lab

Gene Symbol

Ncoa4

Ensembl Gene

ENSMUSG00000056234

Gene Name

nuclear receptor coactivator 4

Synonyms

4432406M01Rik, 1110034E15Rik

MMRRC Submission

044123-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31881884-31901210 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 31888678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131253 (fasta)

Gene Model

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

AlphaFold

Q5U4H9

Predicted Effect

probably benign
Transcript: ENSMUST00000111994

SMART Domains

Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234

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

SMART Domains

Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234

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 null
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

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

noncoding transcript
Transcript: ENSMUST00000227498

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: ENSMUST00000226479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227112

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (90/93)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,537,159 (GRCm39)	I475L	probably benign	Het
Abcc2	C	T	19: 43,807,797 (GRCm39)	R813W	probably damaging	Het
Adam34	T	C	8: 44,105,067 (GRCm39)	T193A	probably benign	Het
Adgb	T	C	10: 10,254,531 (GRCm39)	D1118G	probably damaging	Het
Adprh	A	C	16: 38,267,746 (GRCm39)	S180A	probably benign	Het
Atad5	A	T	11: 79,985,003 (GRCm39)	D30V	probably damaging	Het
Best3	G	A	10: 116,843,532 (GRCm39)	D303N	probably damaging	Het
Bmp2k	G	C	5: 97,235,595 (GRCm39)		probably benign	Het
Btc	A	T	5: 91,514,004 (GRCm39)	V86E	probably damaging	Het
Cacna2d4	G	T	6: 119,258,659 (GRCm39)	A582S	probably benign	Het
Carm1	A	G	9: 21,486,598 (GRCm39)		probably benign	Het
Catsperg1	A	T	7: 28,906,040 (GRCm39)	S180T	probably damaging	Het
Ccdc185	A	T	1: 182,575,047 (GRCm39)	H547Q	probably benign	Het
Ccl6	A	G	11: 83,479,658 (GRCm39)	I115T	possibly damaging	Het
Cd44	C	T	2: 102,654,648 (GRCm39)	V470M	probably damaging	Het
Cdc25a	T	C	9: 109,718,861 (GRCm39)	V354A	probably damaging	Het
Cdhr2	C	A	13: 54,881,832 (GRCm39)	Q1122K	probably benign	Het
Cep290	A	G	10: 100,387,692 (GRCm39)	K1958E	probably damaging	Het
Cfap53	C	T	18: 74,492,811 (GRCm39)	P512S	possibly damaging	Het
Chrdl2	A	T	7: 99,659,200 (GRCm39)		probably benign	Het
Cibar1	A	G	4: 12,171,919 (GRCm39)		probably benign	Het
Clec7a	A	T	6: 129,442,430 (GRCm39)	F199Y	probably damaging	Het
Cracd	A	C	5: 76,989,581 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,101,002 (GRCm39)	K1182E	probably benign	Het
Dnah11	G	T	12: 117,878,371 (GRCm39)		probably null	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Ecpas	A	T	4: 58,849,948 (GRCm39)	M425K	possibly damaging	Het
Egfem1	T	C	3: 29,637,077 (GRCm39)	V42A	possibly damaging	Het
Eif3e	T	A	15: 43,138,728 (GRCm39)		probably null	Het
Exosc9	T	A	3: 36,609,774 (GRCm39)		probably benign	Het
Fbxw18	T	A	9: 109,529,149 (GRCm39)	T135S	probably damaging	Het
Fbxw21	T	C	9: 108,972,893 (GRCm39)	E347G	possibly damaging	Het
Gcm2	A	G	13: 41,256,874 (GRCm39)	Y292H	probably benign	Het
Gltpd2	C	A	11: 70,410,179 (GRCm39)	Q46K	probably benign	Het
Gm6741	A	G	17: 91,544,528 (GRCm39)	Y97C	probably damaging	Het
Golgb1	T	C	16: 36,732,349 (GRCm39)	L532S	probably damaging	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Helz2	A	T	2: 180,872,177 (GRCm39)	F2554L	possibly damaging	Het
Hmbox1	T	A	14: 65,061,122 (GRCm39)	H384L	possibly damaging	Het
Hmcn1	G	T	1: 150,474,648 (GRCm39)	D4746E	possibly damaging	Het
Il17rb	C	A	14: 29,726,232 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,653,587 (GRCm39)	I252F	probably damaging	Het
Khnyn	C	T	14: 56,123,344 (GRCm39)	R33C	probably damaging	Het
Ksr1	G	A	11: 78,950,545 (GRCm39)	P20L	probably damaging	Het
Lamc3	T	C	2: 31,811,721 (GRCm39)	Y903H	probably benign	Het
Miga2	T	C	2: 30,258,875 (GRCm39)		probably benign	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Nphp3	T	C	9: 103,912,996 (GRCm39)	Y925H	probably benign	Het
Nr2c1	T	G	10: 94,024,055 (GRCm39)	L420R	probably damaging	Het
Onecut1	A	G	9: 74,770,066 (GRCm39)	N163S	probably benign	Het
Or5ac21	G	A	16: 59,123,521 (GRCm39)	E2K	probably damaging	Het
Or5d47	T	A	2: 87,804,380 (GRCm39)	S210C	probably benign	Het
Or7e166	A	T	9: 19,625,049 (GRCm39)	T309S	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Per2	C	T	1: 91,372,373 (GRCm39)	V234I	probably damaging	Het
Pign	A	G	1: 105,485,792 (GRCm39)	V735A	possibly damaging	Het
Plekha7	T	C	7: 115,727,809 (GRCm39)	K85R	probably benign	Het
Pnma2	C	T	14: 67,154,323 (GRCm39)	T249I	probably benign	Het
Polr2b	A	G	5: 77,493,189 (GRCm39)	D1057G	probably damaging	Het
Polrmt	A	T	10: 79,576,186 (GRCm39)	L519H	probably damaging	Het
Ptar1	T	C	19: 23,695,277 (GRCm39)	I248T	probably benign	Het
Ptprh	A	C	7: 4,576,507 (GRCm39)	L251R	probably damaging	Het
Purg	T	C	8: 33,876,980 (GRCm39)	M206T	probably benign	Het
Pwp2	A	T	10: 78,018,290 (GRCm39)	F134I	probably damaging	Het
Riok3	T	A	18: 12,286,075 (GRCm39)	H434Q	probably benign	Het
Sorbs2	A	G	8: 46,216,220 (GRCm39)	I187V	probably damaging	Het
Tbc1d2b	T	C	9: 90,101,197 (GRCm39)	I598V	probably benign	Het
Tdg	T	A	10: 82,477,204 (GRCm39)	V85E	probably benign	Het
Tfb1m	C	T	17: 3,593,422 (GRCm39)	V166I	probably benign	Het
Tmem163	A	T	1: 127,419,383 (GRCm39)	M274K	probably damaging	Het
Tpr	T	C	1: 150,303,878 (GRCm39)	I1343T	probably benign	Het
Ttn	T	A	2: 76,719,794 (GRCm39)		probably benign	Het
Tut7	G	A	13: 59,969,880 (GRCm39)	A5V	probably benign	Het
Usp34	A	G	11: 23,386,040 (GRCm39)	T2156A	probably damaging	Het
Vmn1r215	A	T	13: 23,260,487 (GRCm39)	T176S	possibly damaging	Het
Vps52	C	T	17: 34,180,100 (GRCm39)	P268L	possibly damaging	Het
Xbp1	G	A	11: 5,473,514 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,966,272 (GRCm39)	F169L	probably benign	Het
Zfyve16	T	C	13: 92,658,625 (GRCm39)	R429G	probably benign	Het
Zzef1	A	G	11: 72,803,678 (GRCm39)	E2504G	probably damaging	Het

Other mutations in Ncoa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Ncoa4	APN	14	31,894,884 (GRCm39)	missense	probably benign	0.19
IGL02963:Ncoa4	APN	14	31,898,466 (GRCm39)	missense	probably damaging	1.00
IGL03062:Ncoa4	APN	14	31,895,377 (GRCm39)	missense	possibly damaging	0.89
R0613:Ncoa4	UTSW	14	31,898,509 (GRCm39)	missense	probably damaging	1.00
R1353:Ncoa4	UTSW	14	31,892,815 (GRCm39)	nonsense	probably null
R1395:Ncoa4	UTSW	14	31,894,798 (GRCm39)	splice site	probably null
R1430:Ncoa4	UTSW	14	31,898,679 (GRCm39)	missense	probably benign	0.00
R1509:Ncoa4	UTSW	14	31,895,391 (GRCm39)	missense	probably damaging	1.00
R1541:Ncoa4	UTSW	14	31,898,845 (GRCm39)	missense	probably damaging	1.00
R2292:Ncoa4	UTSW	14	31,895,413 (GRCm39)	missense	probably damaging	0.98
R4610:Ncoa4	UTSW	14	31,898,682 (GRCm39)	missense	probably benign	0.01
R4713:Ncoa4	UTSW	14	31,898,598 (GRCm39)	missense	probably benign	0.05
R5750:Ncoa4	UTSW	14	31,899,264 (GRCm39)	nonsense	probably null
R5889:Ncoa4	UTSW	14	31,888,616 (GRCm39)	unclassified	probably benign
R6738:Ncoa4	UTSW	14	31,892,750 (GRCm39)	missense	probably benign
R7065:Ncoa4	UTSW	14	31,894,857 (GRCm39)	nonsense	probably null
R7165:Ncoa4	UTSW	14	31,897,940 (GRCm39)	missense	probably damaging	0.97
R7257:Ncoa4	UTSW	14	31,899,326 (GRCm39)	missense	probably damaging	1.00
R8373:Ncoa4	UTSW	14	31,898,893 (GRCm39)	missense	probably damaging	1.00
R8919:Ncoa4	UTSW	14	31,894,848 (GRCm39)	missense	probably damaging	1.00
R9654:Ncoa4	UTSW	14	31,896,465 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TATGGCCTCTTGACTCAACTGC -3'
(R):5'- CTCAACCCATGAATTGTATTTGCC -3'

Sequencing Primer
(F):5'- ATTATCTATTCCAGCCAGGGGAG -3'
(R):5'- TTTCCACAGAGTCTCAATAC -3'

Posted On

2017-02-28