Incidental Mutation 'R6393:Ncoa1'
ID 515891
Institutional Source Beutler Lab
Gene Symbol Ncoa1
Ensembl Gene ENSMUSG00000020647
Gene Name nuclear receptor coactivator 1
Synonyms KAT13A, steroid receptor coactivator-1, SRC-a/NCoA-1, SRC1, SRC-1, bHLHe74
MMRRC Submission 044542-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6393 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 4297362-4527182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4328181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 775 (F775L)
Ref Sequence ENSEMBL: ENSMUSP00000151610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217674] [ENSMUST00000217794] [ENSMUST00000220434]
AlphaFold P70365
Predicted Effect probably benign
Transcript: ENSMUST00000085814
AA Change: F886L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: F886L

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 probably benign
Transcript: ENSMUST00000217674
AA Change: F775L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000217794
AA Change: F886L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218191
Predicted Effect probably benign
Transcript: ENSMUST00000220434
AA Change: F886L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.8%
Validation Efficiency 99% (70/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,856,690 (GRCm39) Q14R possibly damaging Het
Adamts12 A G 15: 11,255,721 (GRCm39) D430G probably damaging Het
Agxt2 T C 15: 10,393,894 (GRCm39) probably null Het
Akirin1 T G 4: 123,637,324 (GRCm39) Q87P possibly damaging Het
Ank2 G A 3: 126,723,406 (GRCm39) R974C probably damaging Het
Arhgap23 A G 11: 97,354,498 (GRCm39) I804V probably damaging Het
Arhgef28 A T 13: 98,130,527 (GRCm39) L437Q possibly damaging Het
Atp8a2 G T 14: 60,011,204 (GRCm39) Y967* probably null Het
Calcr A G 6: 3,708,586 (GRCm39) L200S probably damaging Het
Ccdc80 T A 16: 44,916,828 (GRCm39) V528D possibly damaging Het
Chd6 A G 2: 160,821,407 (GRCm39) Y1296H probably damaging Het
Chst13 G A 6: 90,302,063 (GRCm39) R28C possibly damaging Het
Clrn1 A G 3: 58,753,741 (GRCm39) F207L probably damaging Het
Col12a1 T C 9: 79,562,767 (GRCm39) T1772A probably damaging Het
Cubn T C 2: 13,360,491 (GRCm39) T1744A probably benign Het
Dchs2 A G 3: 83,037,218 (GRCm39) E655G probably damaging Het
Dnajb3 T A 1: 88,133,384 (GRCm39) E6V possibly damaging Het
Dock5 G A 14: 68,060,051 (GRCm39) P463S probably benign Het
Eif4a3l1 A G 6: 136,305,596 (GRCm39) K19R probably benign Het
Fancd2 T A 6: 113,555,374 (GRCm39) C1128S probably benign Het
Fcrl5 G A 3: 87,355,634 (GRCm39) G449E probably damaging Het
Frem2 G T 3: 53,493,061 (GRCm39) N1818K possibly damaging Het
Gm21149 C A 5: 15,678,037 (GRCm39) V187L possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gstm7 A G 3: 107,838,142 (GRCm39) probably null Het
Htr1b T A 9: 81,513,810 (GRCm39) I266F probably benign Het
Jakmip3 T C 7: 138,620,900 (GRCm39) I305T probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kifc5b T C 17: 27,140,816 (GRCm39) C97R probably benign Het
Klhl30 A T 1: 91,288,912 (GRCm39) H557L probably damaging Het
Lama3 T C 18: 12,612,813 (GRCm39) V1199A probably benign Het
Lmbr1 A G 5: 29,459,292 (GRCm39) L246P probably damaging Het
M6pr T C 6: 122,292,339 (GRCm39) L178P possibly damaging Het
Med17 A G 9: 15,185,879 (GRCm39) S212P probably damaging Het
Med23 T A 10: 24,749,374 (GRCm39) S31T possibly damaging Het
Morc2b T G 17: 33,356,750 (GRCm39) T341P probably damaging Het
Mre11a A G 9: 14,696,805 (GRCm39) M1V probably null Het
Mrpl17 T C 7: 105,459,122 (GRCm39) H158R probably benign Het
Mstn A G 1: 53,105,648 (GRCm39) Q330R probably benign Het
Muc16 T A 9: 18,558,695 (GRCm39) K2533* probably null Het
N4bp2 T C 5: 65,948,344 (GRCm39) S325P possibly damaging Het
Nadk A G 4: 155,673,808 (GRCm39) Y399C possibly damaging Het
Nbea A C 3: 55,998,540 (GRCm39) L89R probably damaging Het
Ndufa11 C A 17: 57,028,331 (GRCm39) A70E probably damaging Het
Nfx1 A G 4: 40,976,851 (GRCm39) Y175C possibly damaging Het
Or10q3 A T 19: 11,848,091 (GRCm39) L163Q probably damaging Het
Or12e9 A G 2: 87,201,909 (GRCm39) N11S probably damaging Het
Pcsk6 T C 7: 65,618,762 (GRCm39) S443P probably damaging Het
Pcsk9 T C 4: 106,304,793 (GRCm39) D425G probably benign Het
Pdcd1lg2 T A 19: 29,414,698 (GRCm39) C42S probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Rbm46 G A 3: 82,771,262 (GRCm39) T451M probably benign Het
Rcan2 T A 17: 44,264,370 (GRCm39) V10D probably benign Het
Rpl7l1 T C 17: 47,093,548 (GRCm39) E4G probably benign Het
Rptn A G 3: 93,304,506 (GRCm39) E613G probably benign Het
Sbk2 T C 7: 4,960,621 (GRCm39) D183G probably damaging Het
Slc15a4 C T 5: 127,693,950 (GRCm39) A162T probably benign Het
Slc30a4 A G 2: 122,527,966 (GRCm39) W315R probably damaging Het
Slc39a14 G C 14: 70,547,262 (GRCm39) F361L probably benign Het
Slc6a13 T C 6: 121,313,801 (GRCm39) Y515H possibly damaging Het
Slitrk3 C A 3: 72,957,247 (GRCm39) K508N possibly damaging Het
Stard4 T C 18: 33,338,278 (GRCm39) D144G probably benign Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tshz1 A T 18: 84,031,345 (GRCm39) V1021D probably damaging Het
Vmn1r54 A T 6: 90,246,304 (GRCm39) I73F probably benign Het
Vmn2r19 A C 6: 123,293,112 (GRCm39) S385R possibly damaging Het
Xkr5 A G 8: 18,998,716 (GRCm39) L34P probably damaging Het
Xpo4 A G 14: 57,875,770 (GRCm39) V121A probably damaging Het
Zbtb40 T A 4: 136,712,177 (GRCm39) H268L probably null Het
Zfp865 T C 7: 5,033,065 (GRCm39) F350S probably damaging Het
Zscan4b T C 7: 10,634,828 (GRCm39) I472V possibly damaging Het
Other mutations in Ncoa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Ncoa1 APN 12 4,328,218 (GRCm39) missense probably benign
IGL01335:Ncoa1 APN 12 4,347,520 (GRCm39) missense probably benign 0.31
IGL02111:Ncoa1 APN 12 4,324,944 (GRCm39) start codon destroyed probably null
IGL02863:Ncoa1 APN 12 4,347,513 (GRCm39) missense probably benign 0.00
IGL02967:Ncoa1 APN 12 4,345,294 (GRCm39) missense probably damaging 1.00
IGL03007:Ncoa1 APN 12 4,389,114 (GRCm39) missense possibly damaging 0.92
IGL03031:Ncoa1 APN 12 4,324,818 (GRCm39) missense possibly damaging 0.76
IGL03048:Ncoa1 UTSW 12 4,317,922 (GRCm39) missense probably damaging 0.96
IGL03147:Ncoa1 UTSW 12 4,309,342 (GRCm39) missense probably damaging 1.00
PIT1430001:Ncoa1 UTSW 12 4,373,005 (GRCm39) missense probably benign 0.19
PIT4402001:Ncoa1 UTSW 12 4,344,987 (GRCm39) missense probably benign 0.00
R0002:Ncoa1 UTSW 12 4,340,885 (GRCm39) missense probably benign 0.00
R0011:Ncoa1 UTSW 12 4,372,896 (GRCm39) missense possibly damaging 0.94
R0389:Ncoa1 UTSW 12 4,345,976 (GRCm39) missense probably benign 0.05
R0467:Ncoa1 UTSW 12 4,317,687 (GRCm39) missense possibly damaging 0.49
R0480:Ncoa1 UTSW 12 4,389,105 (GRCm39) missense probably damaging 1.00
R0541:Ncoa1 UTSW 12 4,373,033 (GRCm39) missense probably damaging 1.00
R0671:Ncoa1 UTSW 12 4,299,758 (GRCm39) splice site probably null
R1387:Ncoa1 UTSW 12 4,324,790 (GRCm39) missense probably benign 0.01
R1426:Ncoa1 UTSW 12 4,320,737 (GRCm39) splice site probably benign
R1538:Ncoa1 UTSW 12 4,320,748 (GRCm39) missense possibly damaging 0.94
R1577:Ncoa1 UTSW 12 4,345,196 (GRCm39) missense probably damaging 0.99
R1902:Ncoa1 UTSW 12 4,389,049 (GRCm39) missense possibly damaging 0.78
R1905:Ncoa1 UTSW 12 4,345,433 (GRCm39) missense probably damaging 1.00
R2026:Ncoa1 UTSW 12 4,317,647 (GRCm39) missense probably benign 0.19
R2259:Ncoa1 UTSW 12 4,365,819 (GRCm39) missense probably damaging 1.00
R2317:Ncoa1 UTSW 12 4,325,189 (GRCm39) missense probably damaging 0.99
R3608:Ncoa1 UTSW 12 4,328,186 (GRCm39) missense probably benign 0.00
R4042:Ncoa1 UTSW 12 4,317,871 (GRCm39) missense probably damaging 0.99
R4688:Ncoa1 UTSW 12 4,365,781 (GRCm39) missense probably benign 0.26
R4763:Ncoa1 UTSW 12 4,325,297 (GRCm39) missense probably damaging 1.00
R4878:Ncoa1 UTSW 12 4,325,004 (GRCm39) missense probably damaging 1.00
R5062:Ncoa1 UTSW 12 4,309,333 (GRCm39) missense probably damaging 0.99
R5531:Ncoa1 UTSW 12 4,303,746 (GRCm39) missense probably benign
R6711:Ncoa1 UTSW 12 4,372,904 (GRCm39) missense probably benign 0.26
R7066:Ncoa1 UTSW 12 4,372,934 (GRCm39) missense possibly damaging 0.90
R7109:Ncoa1 UTSW 12 4,372,978 (GRCm39) missense possibly damaging 0.63
R7170:Ncoa1 UTSW 12 4,299,722 (GRCm39) missense probably benign 0.32
R7395:Ncoa1 UTSW 12 4,345,188 (GRCm39) missense not run
R7453:Ncoa1 UTSW 12 4,309,307 (GRCm39) missense probably damaging 1.00
R7556:Ncoa1 UTSW 12 4,320,794 (GRCm39) missense probably damaging 0.98
R7821:Ncoa1 UTSW 12 4,346,221 (GRCm39) missense probably benign 0.00
R7872:Ncoa1 UTSW 12 4,328,186 (GRCm39) missense probably benign 0.00
R7885:Ncoa1 UTSW 12 4,389,044 (GRCm39) missense probably damaging 1.00
R7936:Ncoa1 UTSW 12 4,385,873 (GRCm39) missense possibly damaging 0.53
R7940:Ncoa1 UTSW 12 4,363,095 (GRCm39) missense possibly damaging 0.50
R8126:Ncoa1 UTSW 12 4,340,951 (GRCm39) missense probably damaging 1.00
R8176:Ncoa1 UTSW 12 4,317,858 (GRCm39) missense possibly damaging 0.90
R8492:Ncoa1 UTSW 12 4,313,473 (GRCm39) missense probably damaging 1.00
R8510:Ncoa1 UTSW 12 4,309,303 (GRCm39) missense probably benign
R8772:Ncoa1 UTSW 12 4,372,940 (GRCm39) missense possibly damaging 0.63
R9082:Ncoa1 UTSW 12 4,346,106 (GRCm39) missense probably benign 0.02
R9094:Ncoa1 UTSW 12 4,345,494 (GRCm39) missense possibly damaging 0.86
R9238:Ncoa1 UTSW 12 4,325,177 (GRCm39) missense possibly damaging 0.95
R9434:Ncoa1 UTSW 12 4,365,755 (GRCm39) missense probably benign
R9491:Ncoa1 UTSW 12 4,340,912 (GRCm39) missense probably benign 0.20
R9542:Ncoa1 UTSW 12 4,325,178 (GRCm39) missense possibly damaging 0.57
R9625:Ncoa1 UTSW 12 4,345,643 (GRCm39) missense probably damaging 1.00
Z1177:Ncoa1 UTSW 12 4,356,514 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATACTCGTGCACACTGGG -3'
(R):5'- GCACTTTCAGAGAGCTGCTAC -3'

Sequencing Primer
(F):5'- CTGGGATCCAGTCTGGGGAG -3'
(R):5'- GAAATCCTGCTCTCCTGT -3'
Posted On 2018-05-04