Mutagenetix > Incidental Mutation

Incidental Mutation 'R5750:Ncoa4'

445980

Institutional Source

Beutler Lab

Gene Symbol

Ncoa4

Ensembl Gene

ENSMUSG00000056234

Gene Name

nuclear receptor coactivator 4

Synonyms

4432406M01Rik, 1110034E15Rik

MMRRC Submission

043356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31881884-31901210 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 31899264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 602 (C602*)

Ref Sequence

ENSEMBL: ENSMUSP00000126071 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000111994
AA Change: C602*

SMART Domains

Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234
AA Change: C602*

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

Predicted Effect

probably null
Transcript: ENSMUST00000163336
AA Change: C602*

SMART Domains

Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234
AA Change: C602*

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: 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: 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: ENSMUST00000226683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228779

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

noncoding transcript
Transcript: ENSMUST00000227112

Predicted Effect

probably benign
Transcript: ENSMUST00000226479

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmat	G	A	4: 141,476,998 (GRCm39)	V135I	probably benign	Het
Agr3	T	C	12: 35,996,941 (GRCm39)	Y72H	probably benign	Het
Ankhd1	T	A	18: 36,757,955 (GRCm39)	M883K	probably benign	Het
Cpeb1	A	T	7: 81,086,099 (GRCm39)	D9E	probably benign	Het
Creb3l1	C	T	2: 91,816,608 (GRCm39)	V386M	possibly damaging	Het
Dnlz	C	T	2: 26,241,423 (GRCm39)	V102M	probably damaging	Het
Esp4	C	T	17: 40,913,286 (GRCm39)	T51M	probably benign	Het
Fap	C	A	2: 62,359,058 (GRCm39)	C443F	probably damaging	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Fpr1	T	A	17: 18,097,525 (GRCm39)	I155F	probably benign	Het
Fshr	T	A	17: 89,293,669 (GRCm39)	L336F	probably benign	Het
Gna15	G	A	10: 81,345,230 (GRCm39)	Q212*	probably null	Het
Hk1	A	G	10: 62,110,245 (GRCm39)	F785L	possibly damaging	Het
Ints8	T	A	4: 11,241,654 (GRCm39)	Q263L	possibly damaging	Het
Itgax	T	C	7: 127,743,878 (GRCm39)	F880L	probably benign	Het
Kcnq4	A	C	4: 120,572,246 (GRCm39)	V327G	probably damaging	Het
Kdm4a	A	G	4: 117,999,396 (GRCm39)		probably benign	Het
Leng8	C	T	7: 4,145,119 (GRCm39)	S173L	probably benign	Het
Lrrc37a	C	T	11: 103,348,923 (GRCm39)	D2591N	unknown	Het
Macrod2	T	A	2: 141,357,240 (GRCm39)	S179T	probably benign	Het
Map4k2	T	A	19: 6,401,367 (GRCm39)	S612R	probably benign	Het
Mast2	A	G	4: 116,166,086 (GRCm39)		probably benign	Het
Micall2	C	T	5: 139,701,456 (GRCm39)		probably null	Het
Miga2	T	A	2: 30,261,577 (GRCm39)	W191R	probably damaging	Het
Mterf1b	T	C	5: 4,246,683 (GRCm39)	I108T	probably damaging	Het
Myh2	A	G	11: 67,082,254 (GRCm39)	I1319V	probably benign	Het
Nalcn	T	C	14: 123,809,450 (GRCm39)	E234G	probably benign	Het
Ntrk2	C	A	13: 58,956,736 (GRCm39)	P65Q	probably benign	Het
Or52z15	G	A	7: 103,332,362 (GRCm39)	V136I	possibly damaging	Het
Or6c215	C	T	10: 129,637,489 (GRCm39)	V302M	probably benign	Het
P3h1	A	T	4: 119,095,863 (GRCm39)	I324F	probably damaging	Het
Peli2	G	T	14: 48,493,632 (GRCm39)	V285L	possibly damaging	Het
Qser1	A	G	2: 104,619,268 (GRCm39)	S515P	probably damaging	Het
Rnf31	C	T	14: 55,836,143 (GRCm39)	R721C	probably damaging	Het
Rps5	A	G	7: 12,659,334 (GRCm39)	K42E	probably damaging	Het
Rufy4	A	T	1: 74,172,068 (GRCm39)	T264S	probably benign	Het
Shq1	A	T	6: 100,588,775 (GRCm39)	V259D	possibly damaging	Het
Slc22a3	T	C	17: 12,652,395 (GRCm39)	I410V	probably benign	Het
Stx5a	T	C	19: 8,732,501 (GRCm39)		probably benign	Het
Syne1	G	T	10: 5,289,209 (GRCm39)	H1430Q	probably benign	Het
Tasor2	G	A	13: 3,623,642 (GRCm39)	Q1421*	probably null	Het
Tmem126b	A	C	7: 90,118,865 (GRCm39)	V141G	probably damaging	Het
Trim52	C	A	14: 106,344,932 (GRCm39)	Q197K	probably benign	Het
Tshz1	A	G	18: 84,032,086 (GRCm39)	L774P	possibly damaging	Het
Ttn	T	C	2: 76,602,031 (GRCm39)	S10217G	possibly damaging	Het
Unc45a	A	G	7: 79,984,571 (GRCm39)	V228A	probably benign	Het
Unc93a2	C	T	17: 7,637,130 (GRCm39)	V133I	probably benign	Het
Vwa2	G	T	19: 56,897,663 (GRCm39)	G656V	probably benign	Het
Xpo5	T	C	17: 46,529,556 (GRCm39)		probably null	Het
Zeb2	T	A	2: 44,887,530 (GRCm39)	Q494L	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
R5889:Ncoa4	UTSW	14	31,888,616 (GRCm39)	unclassified	probably benign
R5928:Ncoa4	UTSW	14	31,888,678 (GRCm39)	critical splice donor site	probably null
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'- GTCCTTAGCATTCAAGCTGCAG -3'
(R):5'- CACGCACAAATTAACAGGAATATGG -3'

Sequencing Primer
(F):5'- CCTTAGCATTCAAGCTGCAGTAAAG -3'
(R):5'- ATTAACAGGAATATGGTTTACTGGGG -3'

Posted On

2016-11-21