Incidental Mutation 'R1426:Ncoa1'
ID 162254
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 039482-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1426 (G1)
Quality Score 166
Status Validated
Chromosome 12
Chromosomal Location 4297362-4527182 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 4320737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217674] [ENSMUST00000217794] [ENSMUST00000220434]
AlphaFold P70365
Predicted Effect probably benign
Transcript: ENSMUST00000085814
SMART Domains Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647

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
Predicted Effect probably benign
Transcript: ENSMUST00000217794
Predicted Effect probably benign
Transcript: ENSMUST00000218191
Predicted Effect probably benign
Transcript: ENSMUST00000220434
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.3%
  • 20x: 86.1%
Validation Efficiency 100% (40/40)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,635,361 (GRCm39) V214E probably damaging Het
Adh1 A G 3: 137,992,556 (GRCm39) D224G probably damaging Het
Arhgap28 C A 17: 68,164,459 (GRCm39) Q554H probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Brat1 G A 5: 140,703,768 (GRCm39) V674I probably benign Het
Brd2 ATCTTCTTC ATCTTC 17: 34,332,981 (GRCm39) probably benign Het
Ccdc162 T C 10: 41,429,178 (GRCm39) D438G possibly damaging Het
Cyp4x1 T A 4: 114,969,988 (GRCm39) probably benign Het
Dip2a T C 10: 76,115,654 (GRCm39) probably benign Het
Eif2s1 A G 12: 78,927,942 (GRCm39) D206G probably benign Het
Elovl7 T A 13: 108,419,028 (GRCm39) I220N possibly damaging Het
Gsto1 A G 19: 47,846,381 (GRCm39) E76G probably damaging Het
Hspa14 A T 2: 3,509,858 (GRCm39) W12R probably damaging Het
L3mbtl2 T A 15: 81,560,518 (GRCm39) C260S possibly damaging Het
Lama3 G T 18: 12,614,155 (GRCm39) probably null Het
Lrrc34 T A 3: 30,697,728 (GRCm39) probably benign Het
Lrrc45 A T 11: 120,610,839 (GRCm39) Q525L probably benign Het
Lss T C 10: 76,372,137 (GRCm39) I164T probably damaging Het
Myh11 T A 16: 14,023,795 (GRCm39) K1527* probably null Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Or5an1c G T 19: 12,218,546 (GRCm39) Q160K possibly damaging Het
Or6c38 A T 10: 128,929,559 (GRCm39) C95S probably damaging Het
Pafah1b3 T C 7: 24,996,560 (GRCm39) E41G possibly damaging Het
Pnma8a C T 7: 16,694,909 (GRCm39) P255S possibly damaging Het
Prkar2b A T 12: 32,012,987 (GRCm39) probably benign Het
Rbck1 A T 2: 152,169,161 (GRCm39) probably benign Het
Rcor2 A G 19: 7,248,395 (GRCm39) S137G possibly damaging Het
Slc25a48 T A 13: 56,596,804 (GRCm39) probably benign Het
Slc7a4 A G 16: 17,391,808 (GRCm39) probably null Het
Tert T C 13: 73,790,472 (GRCm39) probably benign Het
Traf7 A T 17: 24,730,655 (GRCm39) I344N probably damaging Het
Vmn1r194 T A 13: 22,429,236 (GRCm39) F284L probably damaging Het
Xpc A G 6: 91,470,220 (GRCm39) M699T probably damaging Het
Zbtb5 T C 4: 44,993,968 (GRCm39) H472R possibly damaging Het
Zfp786 A G 6: 47,802,013 (GRCm39) V88A probably benign Het
Zkscan7 T C 9: 122,724,228 (GRCm39) I399T probably benign Het
Zyg11b G A 4: 108,108,009 (GRCm39) R466C probably 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
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
R6393:Ncoa1 UTSW 12 4,328,181 (GRCm39) missense probably benign 0.00
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'- AAGTGTGAGAAAGCATCCATCCCG -3'
(R):5'- AGTTTCAGATGCAGTGTGAGTGCC -3'

Sequencing Primer
(F):5'- TCCCGAATAGGCTAATTCACTC -3'
(R):5'- CAACGATTATCTGATTGACAGTGGG -3'
Posted On 2014-03-14