Mutagenetix > Incidental Mutation

Incidental Mutation 'R4610:Ncoa4'

344647

Institutional Source

Beutler Lab

Gene Symbol

Ncoa4

Ensembl Gene

ENSMUSG00000056234

Gene Name

nuclear receptor coactivator 4

Synonyms

4432406M01Rik, 1110034E15Rik

MMRRC Submission

041821-MU

Accession Numbers

Essential gene?

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

Stock #

R4610 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31881884-31901210 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31898682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 501 (I501L)

Ref Sequence

ENSEMBL: ENSMUSP00000126071 (fasta)

Gene Model

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

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: I501L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234
AA Change: I501L

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: I501L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234
AA Change: I501L

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: ENSMUST00000170331

SMART Domains

Protein: ENSMUSP00000126977
Gene: ENSMUSG00000013701

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227498

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: ENSMUST00000226683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228779

Predicted Effect

probably benign
Transcript: ENSMUST00000226479

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

Meta Mutation Damage Score

0.0622

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (121/124)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Adgre1	C	A	17: 57,757,073 (GRCm39)	Q777K	possibly damaging	Het
Agpat4	G	A	17: 12,429,264 (GRCm39)		probably null	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Ankle1	AT	A	8: 71,859,851 (GRCm39)		probably benign	Het
Ankrd44	T	G	1: 54,805,907 (GRCm39)		probably benign	Het
Aprt	A	T	8: 123,302,154 (GRCm39)		probably null	Het
Aptx	T	C	4: 40,702,766 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bbip1	T	C	19: 53,920,606 (GRCm39)	M1V	probably null	Het
Cacng7	T	A	7: 3,385,207 (GRCm39)	M36K	probably benign	Het
Camta1	A	G	4: 151,169,284 (GRCm39)	W156R	probably damaging	Het
Casd1	G	A	6: 4,631,165 (GRCm39)		probably null	Het
Casz1	T	A	4: 149,017,724 (GRCm39)	Y338N	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Cit	A	G	5: 116,132,146 (GRCm39)	T1801A	probably benign	Het
Cnot2	A	G	10: 116,335,323 (GRCm39)	I275T	probably damaging	Het
Ddx4	T	C	13: 112,748,594 (GRCm39)	K435E	probably damaging	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Dst	T	C	1: 34,208,937 (GRCm39)	L820P	probably damaging	Het
Dusp11	T	A	6: 85,927,037 (GRCm39)	N193Y	probably damaging	Het
Eif1ad7	T	C	12: 88,238,544 (GRCm39)	N72S	probably benign	Het
Eif3m	A	T	2: 104,843,633 (GRCm39)	N116K	probably benign	Het
Epb41l1	A	T	2: 156,351,181 (GRCm39)	E418D	possibly damaging	Het
Esyt2	T	G	12: 116,282,510 (GRCm39)	N153K	probably damaging	Het
Exoc6b	T	G	6: 84,980,141 (GRCm39)		probably benign	Het
Ezr	C	T	17: 7,007,121 (GRCm39)	E502K	possibly damaging	Het
Fbxw11	T	A	11: 32,661,859 (GRCm39)	Y66N	possibly damaging	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Fry	T	C	5: 150,309,569 (GRCm39)	L671P	probably damaging	Het
Galnt7	A	G	8: 57,998,803 (GRCm39)	I262T	probably damaging	Het
Glp1r	T	C	17: 31,150,221 (GRCm39)	F381S	probably benign	Het
Gm3867	T	C	9: 36,168,567 (GRCm39)		noncoding transcript	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Golgb1	A	G	16: 36,738,987 (GRCm39)	D2442G	probably damaging	Het
Gp1bb	A	T	16: 18,439,893 (GRCm39)	L67Q	probably damaging	Het
Gstm7	G	A	3: 107,834,235 (GRCm39)	T206I	possibly damaging	Het
H2bc7	A	T	13: 23,758,231 (GRCm39)	V45E	possibly damaging	Het
Hs3st5	A	T	10: 36,704,802 (GRCm39)	D35V	probably benign	Het
Hspa13	T	C	16: 75,558,190 (GRCm39)	H125R	probably benign	Het
Hspa1a	T	G	17: 35,190,156 (GRCm39)	H249P	probably damaging	Het
Igkv10-95	A	T	6: 68,657,562 (GRCm39)	Q6L	probably damaging	Het
Il1rap	T	A	16: 26,533,526 (GRCm39)	L474H	probably benign	Het
Ipo11	T	A	13: 107,016,245 (GRCm39)	Y489F	probably benign	Het
Itga5	A	G	15: 103,259,259 (GRCm39)	Y723H	probably damaging	Het
Itih2	T	C	2: 10,109,971 (GRCm39)	N594S	probably damaging	Het
Itk	T	A	11: 46,227,342 (GRCm39)	Q427L	probably benign	Het
Kif26b	A	G	1: 178,506,920 (GRCm39)	Y332C	probably damaging	Het
Kmt2c	G	A	5: 25,559,382 (GRCm39)	R1086W	probably damaging	Het
Ktn1	T	A	14: 47,963,636 (GRCm39)		probably benign	Het
Lars2	T	A	9: 123,247,758 (GRCm39)	I305N	probably damaging	Het
Lgmn	G	T	12: 102,366,383 (GRCm39)		probably benign	Het
Ltbp4	C	T	7: 27,006,125 (GRCm39)	E1453K	probably damaging	Het
Lypd8	G	A	11: 58,277,675 (GRCm39)	M152I	probably benign	Het
Man2a1	T	A	17: 65,019,454 (GRCm39)	S773T	probably benign	Het
Map2k6	T	G	11: 110,390,300 (GRCm39)	L278R	probably damaging	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mms19	A	G	19: 41,933,935 (GRCm39)	V811A	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtcl1	T	A	17: 66,684,882 (GRCm39)	H520L	probably benign	Het
Mymk	A	T	2: 26,952,719 (GRCm39)	F130I	probably damaging	Het
Myo1f	C	T	17: 33,801,306 (GRCm39)	R333C	probably damaging	Het
Myo9a	T	A	9: 59,779,165 (GRCm39)	H1640Q	probably benign	Het
Nav1	A	G	1: 135,520,186 (GRCm39)		probably benign	Het
Ncbp3	G	T	11: 72,969,844 (GRCm39)	G564C	probably damaging	Het
Ngp	T	A	9: 110,249,883 (GRCm39)	N60K	possibly damaging	Het
Npc1l1	G	T	11: 6,178,215 (GRCm39)	D398E	probably damaging	Het
Nphs2	T	A	1: 156,153,701 (GRCm39)	M264K	probably damaging	Het
Or4s2b	G	A	2: 88,508,240 (GRCm39)	V14I	probably benign	Het
Or4s2b	T	G	2: 88,508,523 (GRCm39)	V101G	probably benign	Het
Or7e165	T	A	9: 19,694,442 (GRCm39)	Y4*	probably null	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Patz1	A	G	11: 3,256,241 (GRCm39)	Y509C	probably damaging	Het
Pax8	G	A	2: 24,311,595 (GRCm39)	P447S	probably damaging	Het
Pde11a	A	G	2: 75,988,677 (GRCm39)	V488A	probably benign	Het
Pex11g	C	T	8: 3,515,899 (GRCm39)	V45M	probably benign	Het
Pik3ip1	T	A	11: 3,283,327 (GRCm39)	S142R	probably damaging	Het
Pitpnm2	C	G	5: 124,263,434 (GRCm39)	A819P	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plin4	T	A	17: 56,412,418 (GRCm39)	M538L	probably benign	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Rev1	T	C	1: 38,092,730 (GRCm39)	E1202G	probably damaging	Het
Rngtt	T	A	4: 33,339,133 (GRCm39)		probably benign	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Sgsm1	A	T	5: 113,403,173 (GRCm39)	F958Y	probably damaging	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Sorl1	C	T	9: 41,943,210 (GRCm39)	V889M	possibly damaging	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Stam	A	T	2: 14,120,669 (GRCm39)	H53L	probably damaging	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Tarbp1	A	G	8: 127,201,069 (GRCm39)	Y246H	probably damaging	Het
Tbx15	A	G	3: 99,259,683 (GRCm39)	Y518C	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tescl	T	C	7: 24,032,683 (GRCm39)	E214G	probably damaging	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tmem132d	A	G	5: 128,061,360 (GRCm39)	V414A	probably benign	Het
Tmem41b	T	A	7: 109,573,941 (GRCm39)		probably benign	Het
Tnfrsf18	A	G	4: 156,106,337 (GRCm39)		probably benign	Het
Tulp4	T	A	17: 6,249,108 (GRCm39)	D42E	probably damaging	Het
Ubtd1	A	G	19: 42,022,103 (GRCm39)	N125S	probably damaging	Het
Ubxn4	T	A	1: 128,183,186 (GRCm39)	F68I	probably benign	Het
Urb1	A	G	16: 90,573,159 (GRCm39)	S958P	probably benign	Het
Vash2	T	C	1: 190,692,498 (GRCm39)	S226G	probably benign	Het
Vmn2r120	C	T	17: 57,816,120 (GRCm39)	G745E	probably damaging	Het
Vmn2r58	T	A	7: 41,487,117 (GRCm39)	I593F	probably benign	Het
Zfp398	T	C	6: 47,817,361 (GRCm39)	L67P	probably damaging	Het
Zfp607b	T	A	7: 27,403,120 (GRCm39)	H525Q	probably damaging	Het
Zfp629	T	C	7: 127,211,492 (GRCm39)	T106A	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het
Zic5	T	A	14: 122,702,212 (GRCm39)	D173V	probably damaging	Het
Zranb2	G	A	3: 157,247,521 (GRCm39)		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
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
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'- GCACCAGTTTTGCAGAGTGTG -3'
(R):5'- GCCACTTATCTTCTCCAGAGGG -3'

Sequencing Primer
(F):5'- CAGAGTGTGTGTGTGATGACAAC -3'
(R):5'- AACTGGCTGAGGCTTCCCAC -3'

Posted On

2015-09-25