Incidental Mutation 'IGL03031:Ncoa1'
ID408446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncoa1
Ensembl Gene ENSMUSG00000020647
Gene Namenuclear receptor coactivator 1
SynonymsbHLHe74, SRC-a/NCoA-1, KAT13A, SRC-1, SRC1, steroid receptor coactivator-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03031
Quality Score
Status
Chromosome12
Chromosomal Location4247362-4477182 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 4274818 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 921 (T921I)
Ref Sequence ENSEMBL: ENSMUSP00000151610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217674] [ENSMUST00000217794] [ENSMUST00000220434]
Predicted Effect possibly damaging
Transcript: ENSMUST00000085814
AA Change: T1032I

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: T1032I

DomainStartEndE-ValueType
HLH 29 86 1.73e-9 SMART
PAS 111 178 1.32e-10 SMART
Pfam:PAS_11 259 370 8e-37 PFAM
low complexity region 419 441 N/A INTRINSIC
Pfam:NCOA_u2 468 591 1.3e-29 PFAM
Pfam:SRC-1 632 712 3.5e-26 PFAM
low complexity region 724 736 N/A INTRINSIC
PDB:3RVF|B 747 767 1e-6 PDB
low complexity region 777 785 N/A INTRINSIC
low complexity region 869 880 N/A INTRINSIC
Pfam:Nuc_rec_co-act 930 977 2.3e-23 PFAM
low complexity region 1059 1080 N/A INTRINSIC
low complexity region 1125 1137 N/A INTRINSIC
DUF1518 1155 1211 7.47e-16 SMART
DUF1518 1218 1274 1.14e-11 SMART
low complexity region 1303 1315 N/A INTRINSIC
low complexity region 1333 1354 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000217674
AA Change: T921I

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217794
AA Change: T1032I

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect unknown
Transcript: ENSMUST00000218191
AA Change: T43I
Predicted Effect possibly damaging
Transcript: ENSMUST00000220434
AA Change: T1032I

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show osteopenia, increased serum sex hormone levels, altered bone remodeling and skeletal responses to sex hormones, and obesity. Homozygotes for another null allele show thyroid and steroid hormone resistance, delayed Purkinje cell development, and behavioral deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,314,024 D753G probably benign Het
Adat2 T C 10: 13,556,846 probably benign Het
Ahsa2 A G 11: 23,490,426 L275S probably benign Het
Arhgef38 C T 3: 133,132,067 D118N possibly damaging Het
Bicra A T 7: 15,975,801 H1097Q probably benign Het
C4b T C 17: 34,731,130 T1389A possibly damaging Het
Cd180 A G 13: 102,705,027 S194G probably benign Het
Chgb C A 2: 132,793,514 Q459K probably benign Het
Clvs1 G T 4: 9,449,385 probably benign Het
Cpox G A 16: 58,672,560 G186R probably damaging Het
Cul5 A G 9: 53,642,675 probably benign Het
Epsti1 G A 14: 77,974,581 R249K probably benign Het
Gabrg1 A T 5: 70,794,682 Y90* probably null Het
Gabrp T C 11: 33,554,980 R274G probably damaging Het
Gm597 A G 1: 28,778,583 F123L probably benign Het
Gm6401 C T 14: 41,966,894 E73K possibly damaging Het
Gm9825 T C 6: 7,982,857 noncoding transcript Het
Hectd4 C T 5: 121,348,794 T3284M possibly damaging Het
Hoxc9 T C 15: 102,984,090 M245T probably damaging Het
Lpar6 T C 14: 73,239,442 V281A possibly damaging Het
Med18 G T 4: 132,459,613 Q192K possibly damaging Het
Mis18bp1 A G 12: 65,161,930 V3A probably benign Het
Mpped2 G T 2: 106,783,623 probably benign Het
Ms4a10 A G 19: 10,968,671 V32A probably benign Het
Mthfd1l T A 10: 4,018,601 probably null Het
Myh1 A T 11: 67,206,387 Q422L possibly damaging Het
Myo3b A T 2: 70,255,377 Q819L possibly damaging Het
Olfr807 A G 10: 129,755,369 L27P possibly damaging Het
Olfr894 A C 9: 38,219,065 T81P probably damaging Het
Olfr960 A G 9: 39,623,398 I92V probably damaging Het
Phf3 A G 1: 30,804,653 S1742P probably benign Het
Plxdc2 G A 2: 16,650,232 probably null Het
Poc5 A G 13: 96,401,615 T263A probably benign Het
Prss41 T A 17: 23,842,422 I132F probably damaging Het
Pxylp1 A G 9: 96,825,142 I329T probably benign Het
Rbm27 T C 18: 42,333,399 probably null Het
Rpgrip1l A T 8: 91,260,783 V882E probably damaging Het
Sec16b T C 1: 157,560,799 S579P probably benign Het
Senp7 A G 16: 56,175,886 E776G probably damaging Het
Smc2 A G 4: 52,449,638 I207V probably benign Het
Spats2 A G 15: 99,180,688 T211A probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Syt11 A T 3: 88,748,841 M1K probably null Het
Tacc2 A G 7: 130,623,855 T757A possibly damaging Het
Tecta A C 9: 42,345,493 M1629R probably benign Het
Ufsp2 T A 8: 45,984,100 I101N probably damaging Het
Unc13b T A 4: 43,235,368 C892S probably damaging Het
Ush1c A G 7: 46,224,937 probably benign Het
Vwde A T 6: 13,208,382 V167E probably benign Het
Wdfy4 A G 14: 33,140,651 L588P probably damaging Het
Zfyve1 T C 12: 83,574,821 T267A probably damaging Het
Other mutations in Ncoa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Ncoa1 APN 12 4278218 missense probably benign
IGL01335:Ncoa1 APN 12 4297520 missense probably benign 0.31
IGL02111:Ncoa1 APN 12 4274944 start codon destroyed probably null
IGL02863:Ncoa1 APN 12 4297513 missense probably benign 0.00
IGL02967:Ncoa1 APN 12 4295294 missense probably damaging 1.00
IGL03007:Ncoa1 APN 12 4339114 missense possibly damaging 0.92
IGL03048:Ncoa1 UTSW 12 4267922 missense probably damaging 0.96
IGL03147:Ncoa1 UTSW 12 4259342 missense probably damaging 1.00
PIT1430001:Ncoa1 UTSW 12 4323005 missense probably benign 0.19
PIT4402001:Ncoa1 UTSW 12 4294987 missense probably benign 0.00
R0002:Ncoa1 UTSW 12 4290885 missense probably benign 0.00
R0011:Ncoa1 UTSW 12 4322896 missense possibly damaging 0.94
R0389:Ncoa1 UTSW 12 4295976 missense probably benign 0.05
R0467:Ncoa1 UTSW 12 4267687 missense possibly damaging 0.49
R0480:Ncoa1 UTSW 12 4339105 missense probably damaging 1.00
R0541:Ncoa1 UTSW 12 4323033 missense probably damaging 1.00
R0671:Ncoa1 UTSW 12 4249758 splice site probably null
R1387:Ncoa1 UTSW 12 4274790 missense probably benign 0.01
R1426:Ncoa1 UTSW 12 4270737 splice site probably benign
R1538:Ncoa1 UTSW 12 4270748 missense possibly damaging 0.94
R1577:Ncoa1 UTSW 12 4295196 missense probably damaging 0.99
R1902:Ncoa1 UTSW 12 4339049 missense possibly damaging 0.78
R1905:Ncoa1 UTSW 12 4295433 missense probably damaging 1.00
R2026:Ncoa1 UTSW 12 4267647 missense probably benign 0.19
R2259:Ncoa1 UTSW 12 4315819 missense probably damaging 1.00
R2317:Ncoa1 UTSW 12 4275189 missense probably damaging 0.99
R3608:Ncoa1 UTSW 12 4278186 missense probably benign 0.00
R4042:Ncoa1 UTSW 12 4267871 missense probably damaging 0.99
R4688:Ncoa1 UTSW 12 4315781 missense probably benign 0.26
R4763:Ncoa1 UTSW 12 4275297 missense probably damaging 1.00
R4878:Ncoa1 UTSW 12 4275004 missense probably damaging 1.00
R5062:Ncoa1 UTSW 12 4259333 missense probably damaging 0.99
R5531:Ncoa1 UTSW 12 4253746 missense probably benign
R6393:Ncoa1 UTSW 12 4278181 missense probably benign 0.00
R6711:Ncoa1 UTSW 12 4322904 missense probably benign 0.26
R7066:Ncoa1 UTSW 12 4322934 missense possibly damaging 0.90
R7109:Ncoa1 UTSW 12 4322978 missense possibly damaging 0.63
R7170:Ncoa1 UTSW 12 4249722 missense probably benign 0.32
R7395:Ncoa1 UTSW 12 4295188 missense not run
R7453:Ncoa1 UTSW 12 4259307 missense probably damaging 1.00
R7556:Ncoa1 UTSW 12 4270794 missense probably damaging 0.98
R7821:Ncoa1 UTSW 12 4296221 missense probably benign 0.00
R7872:Ncoa1 UTSW 12 4278186 missense probably benign 0.00
R7885:Ncoa1 UTSW 12 4339044 missense probably damaging 1.00
R7955:Ncoa1 UTSW 12 4278186 missense probably benign 0.00
R7968:Ncoa1 UTSW 12 4339044 missense probably damaging 1.00
Z1177:Ncoa1 UTSW 12 4306514 missense not run
Posted On2016-08-02