Mutagenetix > Incidental Mutation

Incidental Mutation 'R2292:Ncoa4'

245054

Institutional Source

Beutler Lab

Gene Symbol

Ncoa4

Ensembl Gene

ENSMUSG00000056234

Gene Name

nuclear receptor coactivator 4

Synonyms

4432406M01Rik, 1110034E15Rik

MMRRC Submission

040291-MU

Accession Numbers

Essential gene?

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

Stock #

R2292 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31881884-31901210 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 31895413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 179 (L179R)

Ref Sequence

ENSEMBL: ENSMUSP00000129917 (fasta)

Gene Model

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

AlphaFold

Q5U4H9

Predicted Effect

probably damaging
Transcript: ENSMUST00000111994
AA Change: L179R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234
AA Change: L179R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000163336
AA Change: L179R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234
AA Change: L179R

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: L84R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126222
Gene: ENSMUSG00000056234
AA Change: L84R

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 damaging
Transcript: ENSMUST00000169722
AA Change: L179R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129917
Gene: ENSMUSG00000056234
AA Change: L179R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228779

Predicted Effect

probably benign
Transcript: ENSMUST00000226479

Meta Mutation Damage Score

0.3298

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.8%

Validation Efficiency

100% (44/44)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,483 (GRCm39)	I370T	probably benign	Het
A2m	A	G	6: 121,650,518 (GRCm39)	T1209A	possibly damaging	Het
Als2	T	C	1: 59,226,544 (GRCm39)	Q920R	probably damaging	Het
Arhgap20	T	A	9: 51,760,743 (GRCm39)	Y829N	possibly damaging	Het
Arhgap35	A	T	7: 16,297,476 (GRCm39)	F530I	probably damaging	Het
Arid4a	G	T	12: 71,108,315 (GRCm39)	G40V	probably damaging	Het
Ascc2	T	C	11: 4,629,352 (GRCm39)		probably benign	Het
Cacna1b	C	T	2: 24,496,632 (GRCm39)	V2312I	probably benign	Het
Dctn6	T	C	8: 34,559,679 (GRCm39)	T159A	probably benign	Het
Ddx55	G	T	5: 124,706,140 (GRCm39)	A522S	probably benign	Het
Dnah6	G	A	6: 72,998,092 (GRCm39)	T4110I	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Dym	A	G	18: 75,332,283 (GRCm39)	T504A	possibly damaging	Het
E130308A19Rik	T	C	4: 59,690,579 (GRCm39)	Y138H	probably damaging	Het
Fgd4	A	T	16: 16,253,864 (GRCm39)	C568S	possibly damaging	Het
Fkbp4	A	C	6: 128,413,625 (GRCm39)	V6G	probably damaging	Het
Flg2	A	T	3: 93,127,984 (GRCm39)	S2299C	unknown	Het
Gdf2	A	T	14: 33,667,145 (GRCm39)	N289I	possibly damaging	Het
Gpr182	A	G	10: 127,586,051 (GRCm39)	I300T	possibly damaging	Het
Iqcg	A	G	16: 32,870,253 (GRCm39)	V80A	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lyst	T	G	13: 13,915,080 (GRCm39)	F3258C	probably damaging	Het
Map3k12	T	C	15: 102,408,574 (GRCm39)	E870G	probably damaging	Het
Mphosph10	G	A	7: 64,035,519 (GRCm39)	P384L	probably damaging	Het
Nlrp1c-ps	A	G	11: 71,137,188 (GRCm39)		noncoding transcript	Het
Nwd2	A	T	5: 63,962,917 (GRCm39)	M834L	probably benign	Het
Or10a49	A	T	7: 108,468,223 (GRCm39)	M46K	probably benign	Het
Or2w6	A	G	13: 21,843,001 (GRCm39)	M164T	probably damaging	Het
Pccb	T	C	9: 100,876,685 (GRCm39)	E266G	probably benign	Het
Pcdhb2	T	A	18: 37,430,297 (GRCm39)		probably null	Het
Pramel25	T	C	4: 143,520,446 (GRCm39)	I66T	probably benign	Het
Prdm13	A	C	4: 21,683,914 (GRCm39)	I119S	unknown	Het
Tchh	A	G	3: 93,349,689 (GRCm39)	Y18C	probably damaging	Het
Tmem192	T	C	8: 65,411,998 (GRCm39)	V59A	probably damaging	Het
Trak2	A	T	1: 58,974,916 (GRCm39)	F92Y	probably damaging	Het
Trappc11	C	T	8: 47,958,771 (GRCm39)	G40D	probably damaging	Het
Ttc23	A	T	7: 67,319,535 (GRCm39)	I132F	probably benign	Het
Ttc9b	A	G	7: 27,355,405 (GRCm39)	D225G	probably benign	Het
Ubr3	G	T	2: 69,727,604 (GRCm39)		probably benign	Het
Vmn2r75	A	C	7: 85,798,144 (GRCm39)	C556W	probably damaging	Het
Zbtb41	T	C	1: 139,368,097 (GRCm39)	V595A	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
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
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'- CGAGGTACTGCTAGGTATAGGG -3'
(R):5'- GTCAGTAGCAATGTTAGGAATTTCC -3'

Sequencing Primer
(F):5'- TACTGCTAGGTATAGGGAAGACATC -3'
(R):5'- GGCAATCAAGTGGATGCT -3'

Posted On

2014-10-30