Incidental Mutation 'R1509:Ncoa4'
ID 168172
Institutional Source Beutler Lab
Gene Symbol Ncoa4
Ensembl Gene ENSMUSG00000056234
Gene Name nuclear receptor coactivator 4
Synonyms 4432406M01Rik, 1110034E15Rik
MMRRC Submission 039556-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1509 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 31881884-31901210 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31895391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 172 (S172P)
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: S172P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234
AA Change: S172P

Pfam:ARA70 37 168 5e-44 PFAM
Pfam:ARA70 197 338 5.1e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163336
AA Change: S172P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234
AA Change: S172P

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

Pfam:ARA70 37 99 3.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168034
SMART Domains Protein: ENSMUSP00000129422
Gene: ENSMUSG00000056234

Pfam:ARA70 45 131 1.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168114
SMART Domains Protein: ENSMUSP00000131253
Gene: ENSMUSG00000056234

Pfam:ARA70 64 105 2.2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168334
SMART Domains Protein: ENSMUSP00000128739
Gene: ENSMUSG00000056234

Pfam:ARA70 37 96 1.1e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168385
AA Change: S77P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126222
Gene: ENSMUSG00000056234
AA Change: S77P

Pfam:ARA70 1 73 8.2e-24 PFAM
Pfam:ARA70 102 205 2.9e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169722
AA Change: S172P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129917
Gene: ENSMUSG00000056234
AA Change: S172P

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: ENSMUST00000227112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228779
Meta Mutation Damage Score 0.3340 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency 99% (89/90)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,340,766 (GRCm39) S132P probably benign Het
AC153895.1 T C 6: 50,020,451 (GRCm39) R54G unknown Het
Acot12 G A 13: 91,919,994 (GRCm39) probably null Het
Adhfe1 T A 1: 9,623,671 (GRCm39) D98E probably benign Het
Ago2 A G 15: 72,988,213 (GRCm39) F594S probably damaging Het
Aldh18a1 A G 19: 40,545,927 (GRCm39) I620T probably damaging Het
Aspscr1 C A 11: 120,592,342 (GRCm39) A294D probably damaging Het
Bod1l C G 5: 41,976,883 (GRCm39) R1477T probably damaging Het
Ccdc18 C A 5: 108,336,844 (GRCm39) A741D possibly damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap52 C T 11: 67,829,819 (GRCm39) V317I probably benign Het
Cgn A T 3: 94,681,568 (GRCm39) L509Q probably benign Het
Crb2 A G 2: 37,676,631 (GRCm39) H204R probably benign Het
Cspg4b A G 13: 113,504,790 (GRCm39) N431S probably damaging Het
Ddx39a G A 8: 84,446,527 (GRCm39) V99M probably damaging Het
Dis3l2 T A 1: 86,948,808 (GRCm39) C582S possibly damaging Het
Dmbt1 G A 7: 130,676,061 (GRCm39) probably benign Het
Dnah6 T C 6: 73,004,425 (GRCm39) E3846G probably damaging Het
Dstyk A G 1: 132,384,084 (GRCm39) E655G probably damaging Het
Epha4 T C 1: 77,357,523 (GRCm39) Y825C probably damaging Het
Esp36 T A 17: 38,728,173 (GRCm39) N36I probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fem1c A G 18: 46,657,280 (GRCm39) S145P probably benign Het
Galnt13 T C 2: 54,623,094 (GRCm39) I80T probably damaging Het
Gm5698 T C 1: 31,016,728 (GRCm39) T108A probably benign Het
Hipk3 A G 2: 104,271,607 (GRCm39) S442P probably benign Het
Hmcn2 T A 2: 31,204,491 (GRCm39) V22D possibly damaging Het
Hspg2 C T 4: 137,238,552 (GRCm39) probably benign Het
Ide A G 19: 37,262,603 (GRCm39) probably null Het
Ifnar1 C A 16: 91,300,384 (GRCm39) P462Q probably damaging Het
Itgb2l T A 16: 96,228,049 (GRCm39) I485F probably benign Het
Jakmip3 C T 7: 138,629,505 (GRCm39) R549W possibly damaging Het
Lrrc36 A G 8: 106,187,761 (GRCm39) Q680R probably damaging Het
Lysmd3 T G 13: 81,817,390 (GRCm39) H122Q probably benign Het
Macf1 C A 4: 123,577,802 (GRCm39) V61L possibly damaging Het
Map1b T C 13: 99,568,036 (GRCm39) T1562A unknown Het
Map3k20 A T 2: 72,194,968 (GRCm39) probably benign Het
Mroh8 A G 2: 157,075,125 (GRCm39) V457A probably benign Het
Mrpl40 T A 16: 18,694,159 (GRCm39) probably null Het
Ms4a10 C T 19: 10,941,472 (GRCm39) V166I probably benign Het
Mycl A G 4: 122,894,100 (GRCm39) D300G probably damaging Het
Naca T A 10: 127,879,266 (GRCm39) probably benign Het
Nfatc3 T C 8: 106,810,486 (GRCm39) F421L possibly damaging Het
Nucb1 C A 7: 45,144,649 (GRCm39) K301N probably benign Het
Or1af1 A G 2: 37,109,966 (GRCm39) H155R probably damaging Het
Or52ae9 A T 7: 103,390,243 (GRCm39) M68K probably benign Het
Or5b99 T A 19: 12,976,815 (GRCm39) I155N possibly damaging Het
Panx1 A T 9: 14,921,341 (GRCm39) V178E possibly damaging Het
Pkd1l3 G A 8: 110,367,402 (GRCm39) V1210I probably damaging Het
Polr2a A T 11: 69,638,039 (GRCm39) H143Q possibly damaging Het
Potefam1 A T 2: 111,048,972 (GRCm39) M269K probably benign Het
Prdm12 G A 2: 31,544,186 (GRCm39) R263H probably damaging Het
Prkdc A C 16: 15,549,430 (GRCm39) K1998T probably damaging Het
Rab11fip1 A T 8: 27,643,051 (GRCm39) S583T probably damaging Het
Rnf157 T A 11: 116,237,921 (GRCm39) T567S probably benign Het
Rp1 T C 1: 4,417,917 (GRCm39) K1065R probably damaging Het
Rp1 A G 1: 4,418,760 (GRCm39) I784T probably benign Het
Rps10 A C 17: 27,850,182 (GRCm39) F150V probably benign Het
Rrp12 A T 19: 41,870,639 (GRCm39) F499I probably damaging Het
Sez6l2 G A 7: 126,562,535 (GRCm39) R604H probably damaging Het
Slc25a21 G T 12: 56,904,864 (GRCm39) Q57K probably benign Het
Slc27a2 A G 2: 126,395,234 (GRCm39) T54A possibly damaging Het
Slc9a9 T A 9: 95,111,011 (GRCm39) S610T probably benign Het
Smc1b A T 15: 84,970,335 (GRCm39) S973T probably benign Het
Smc6 G A 12: 11,329,734 (GRCm39) S164N possibly damaging Het
Sp1 A G 15: 102,316,314 (GRCm39) T32A possibly damaging Het
Spen T C 4: 141,202,946 (GRCm39) I1894V probably benign Het
Spen T C 4: 141,203,011 (GRCm39) K1872R possibly damaging Het
Stab1 C A 14: 30,873,541 (GRCm39) probably benign Het
Taar7d T G 10: 23,904,102 (GRCm39) F328C probably damaging Het
Ticam1 A T 17: 56,578,113 (GRCm39) S327R probably benign Het
Tmem248 C T 5: 130,258,295 (GRCm39) probably benign Het
Tom1 T C 8: 75,781,259 (GRCm39) S83P probably damaging Het
Txk T A 5: 72,856,453 (GRCm39) Y446F probably damaging Het
Ubap1l T A 9: 65,279,237 (GRCm39) C179S probably benign Het
Utrn T C 10: 12,331,185 (GRCm39) E474G possibly damaging Het
Vmn2r14 T C 5: 109,363,862 (GRCm39) M685V probably benign Het
Vmn2r7 A T 3: 64,623,881 (GRCm39) Y146* probably null Het
Wdr1 G A 5: 38,697,905 (GRCm39) T220M probably damaging Het
Xpo7 T C 14: 70,915,582 (GRCm39) D726G probably damaging Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Zbtb3 A G 19: 8,780,771 (GRCm39) D128G probably damaging Het
Zeb1os1 A G 18: 5,583,794 (GRCm39) noncoding transcript Het
Zfp462 T A 4: 55,007,667 (GRCm39) D35E probably damaging Het
Zfp467 A G 6: 48,415,621 (GRCm39) S344P possibly damaging Het
Zfpm1 A T 8: 123,034,285 (GRCm39) D73V possibly damaging Het
Other mutations in Ncoa4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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

Sequencing Primer
Posted On 2014-04-13