Mutagenetix > Incidental Mutation

Incidental Mutation 'R1430:Ncoa4'

161500

Institutional Source

Beutler Lab

Gene Symbol

Ncoa4

Ensembl Gene

ENSMUSG00000056234

Gene Name

nuclear receptor coactivator 4

Synonyms

4432406M01Rik, 1110034E15Rik

MMRRC Submission

039486-MU

Accession Numbers

Essential gene?

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

Stock #

R1430 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31881884-31901210 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31898679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 500 (V500I)

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: V500I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234
AA Change: V500I

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: V500I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234
AA Change: V500I

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

noncoding transcript
Transcript: ENSMUST00000227498

Predicted Effect

probably benign
Transcript: ENSMUST00000226683

Meta Mutation Damage Score

0.0655

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.9%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,204,287 (GRCm39)		probably benign	Het
Aoc2	A	G	11: 101,217,321 (GRCm39)	Y468C	probably damaging	Het
Cdyl2	A	G	8: 117,306,056 (GRCm39)		probably benign	Het
Cfh	A	G	1: 140,030,436 (GRCm39)		probably benign	Het
Cyp2j9	G	T	4: 96,472,201 (GRCm39)		probably benign	Het
Dapk1	T	G	13: 60,901,957 (GRCm39)	F929V	probably benign	Het
Dhx9	A	T	1: 153,359,493 (GRCm39)	M35K	probably benign	Het
Dnah5	G	A	15: 28,346,003 (GRCm39)	E2448K	probably benign	Het
Doc2b	A	T	11: 75,670,981 (GRCm39)	C217S	possibly damaging	Het
Dock11	A	G	X: 35,333,565 (GRCm39)	I2010V	probably benign	Het
Dram1	T	C	10: 88,160,641 (GRCm39)	T227A	possibly damaging	Het
Eppin	G	A	2: 164,431,323 (GRCm39)	T101M	probably damaging	Het
F13a1	T	C	13: 37,082,105 (GRCm39)	D533G	probably damaging	Het
Fmo1	C	A	1: 162,667,293 (GRCm39)	R174L	probably damaging	Het
Fsip2	C	A	2: 82,828,407 (GRCm39)	L6735I	possibly damaging	Het
Gab1	G	T	8: 81,515,241 (GRCm39)	T359K	probably benign	Het
Ggta1	T	C	2: 35,298,029 (GRCm39)	D118G	possibly damaging	Het
Gramd1a	A	G	7: 30,832,211 (GRCm39)	S609P	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Lama1	A	G	17: 68,089,150 (GRCm39)	Y1607C	possibly damaging	Het
Lrrc24	G	T	15: 76,607,992 (GRCm39)		probably null	Het
Mak	C	A	13: 41,223,760 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,063,768 (GRCm39)	R2708Q	possibly damaging	Het
Mettl24	T	C	10: 40,613,791 (GRCm39)	C177R	probably damaging	Het
Mgam	G	C	6: 40,733,305 (GRCm39)	E812D	probably benign	Het
Mroh8	T	C	2: 157,111,445 (GRCm39)	R170G	possibly damaging	Het
Msn	G	A	X: 95,196,325 (GRCm39)	V130I	probably benign	Het
Or2aj5	A	G	16: 19,424,752 (GRCm39)	L222P	probably damaging	Het
Or2y1b	A	G	11: 49,208,928 (GRCm39)		probably null	Het
Or5an6	C	T	19: 12,371,801 (GRCm39)	T58I	probably benign	Het
Or8k3b	T	C	2: 86,520,866 (GRCm39)	Y151C	possibly damaging	Het
Ppm1h	T	C	10: 122,693,004 (GRCm39)	S302P	probably damaging	Het
Prkce	T	A	17: 86,866,565 (GRCm39)		probably benign	Het
Psenen	T	C	7: 30,261,815 (GRCm39)	I34V	probably benign	Het
Rbl1	T	C	2: 157,011,826 (GRCm39)	T710A	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc1a5	A	G	7: 16,516,328 (GRCm39)	D168G	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Syce1	A	T	7: 140,359,351 (GRCm39)		probably benign	Het
Tbc1d23	G	T	16: 57,034,573 (GRCm39)	D75E	probably damaging	Het
Tbk1	A	G	10: 121,395,839 (GRCm39)	V418A	probably benign	Het
Tmem132e	T	C	11: 82,329,122 (GRCm39)	V467A	probably damaging	Het
Tmem241	T	C	18: 12,126,651 (GRCm39)	D144G	probably benign	Het
Tsc2	A	G	17: 24,817,997 (GRCm39)		probably null	Het
Ubxn4	T	A	1: 128,202,617 (GRCm39)	F420I	probably benign	Het
Usp34	A	G	11: 23,409,151 (GRCm39)	T2645A	probably damaging	Het
Utp14b	A	G	1: 78,644,111 (GRCm39)	K670E	probably benign	Het
Zfp407	C	T	18: 84,227,580 (GRCm39)	V2010M	probably benign	Het
Zfp879	A	G	11: 50,724,784 (GRCm39)	F91L	probably benign	Het
Zfyve26	A	G	12: 79,329,591 (GRCm39)	S532P	probably benign	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
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
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'- TGTGTAAAGCCAACGAGCCCTG -3'
(R):5'- TCGGCAGTGTTAAAGGGACACCAG -3'

Sequencing Primer
(F):5'- GAGCCCTGCACCAGTTTTG -3'
(R):5'- TGTTAAAGGGACACCAGGAAGTG -3'

Posted On

2014-03-14