Incidental Mutation 'R7885:Ncoa1'
ID 609024
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 045937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7885 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 4297362-4527182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4389044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 77 (I77T)
Ref Sequence ENSEMBL: ENSMUSP00000151358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217674] [ENSMUST00000217794] [ENSMUST00000219715] [ENSMUST00000220434]
AlphaFold P70365
Predicted Effect probably damaging
Transcript: ENSMUST00000085814
AA Change: I77T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: I77T

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 damaging
Transcript: ENSMUST00000217794
AA Change: I77T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219715
Predicted Effect probably damaging
Transcript: ENSMUST00000220434
AA Change: I77T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 A G 10: 77,131,542 (GRCm39) V649A possibly damaging Het
Arglu1 C T 8: 8,717,337 (GRCm39) R244H possibly damaging Het
Asic5 A T 3: 81,913,812 (GRCm39) Y204F probably benign Het
Asz1 A G 6: 18,104,876 (GRCm39) F76S probably damaging Het
Bin1 G A 18: 32,552,896 (GRCm39) A174T probably damaging Het
Bnipl A C 3: 95,157,551 (GRCm39) S23A probably benign Het
Cd19 T C 7: 126,011,303 (GRCm39) T294A probably benign Het
Cdon G A 9: 35,367,818 (GRCm39) V238I probably benign Het
Chd3 A T 11: 69,247,451 (GRCm39) D957E probably benign Het
Crhbp T C 13: 95,568,515 (GRCm39) Q307R probably damaging Het
Cst3 A G 2: 148,714,741 (GRCm39) M112T probably benign Het
Dgkb A G 12: 38,189,425 (GRCm39) E276G probably damaging Het
Exoc4 T A 6: 33,735,001 (GRCm39) N539K probably benign Het
Gm3099 A G 14: 15,345,429 (GRCm39) E85G probably benign Het
Gpatch2 A G 1: 186,957,698 (GRCm39) probably null Het
Hs3st5 T A 10: 36,704,776 (GRCm39) Y26* probably null Het
Hspg2 A T 4: 137,244,148 (GRCm39) D802V probably damaging Het
Ifih1 A G 2: 62,431,813 (GRCm39) V846A possibly damaging Het
Lama4 T A 10: 38,964,840 (GRCm39) S1402T probably benign Het
Lrmda A G 14: 22,648,388 (GRCm39) T73A unknown Het
Lrrc1 A T 9: 77,349,471 (GRCm39) V365E probably damaging Het
Lrrc37a T A 11: 103,393,868 (GRCm39) Q519L probably benign Het
Mlc1 G T 15: 88,862,107 (GRCm39) D36E probably benign Het
Mrc2 A T 11: 105,223,092 (GRCm39) D445V probably damaging Het
Muc16 A G 9: 18,550,760 (GRCm39) S5178P probably benign Het
Nbea A G 3: 55,573,110 (GRCm39) I2491T probably damaging Het
Npepps G T 11: 97,109,474 (GRCm39) H701N probably damaging Het
Or4n4b T G 14: 50,536,041 (GRCm39) T242P probably damaging Het
Or7g22 A T 9: 19,048,831 (GRCm39) I181F possibly damaging Het
Pclo T TTCTAG 5: 14,764,209 (GRCm39) probably null Het
Pclo GTCTAT GTCTATTCTAT 5: 14,764,204 (GRCm39) probably null Het
Pclo TCTAT TCTATACTAT 5: 14,764,205 (GRCm39) probably null Het
Pi4kb T C 3: 94,906,387 (GRCm39) Y645H probably damaging Het
Pik3r5 C T 11: 68,383,528 (GRCm39) A449V possibly damaging Het
Plat A G 8: 23,261,736 (GRCm39) T45A probably benign Het
Platr25 T C 13: 62,848,676 (GRCm39) K62R possibly damaging Het
Ppp5c A G 7: 16,740,111 (GRCm39) V410A possibly damaging Het
Prdm2 C T 4: 142,861,140 (GRCm39) A717T probably benign Het
Pstpip2 C A 18: 77,882,422 (GRCm39) T2K probably benign Het
Ptpn12 A C 5: 21,203,523 (GRCm39) S418R possibly damaging Het
Rint1 A G 5: 24,010,642 (GRCm39) S255G probably benign Het
Rmc1 T C 18: 12,322,371 (GRCm39) L608P probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Stab2 T C 10: 86,714,776 (GRCm39) H1581R probably benign Het
Stau2 T C 1: 16,530,577 (GRCm39) Y114C unknown Het
Ticam1 T C 17: 56,578,067 (GRCm39) T343A probably benign Het
Tmem131l T C 3: 83,817,724 (GRCm39) K1259E possibly damaging Het
Vmn2r103 T A 17: 20,013,385 (GRCm39) F169I probably benign Het
Vps33a T C 5: 123,673,312 (GRCm39) K425E possibly damaging Het
Vwa8 T C 14: 79,258,089 (GRCm39) M746T probably benign Het
Zc3hav1 A G 6: 38,313,598 (GRCm39) I149T possibly damaging Het
Zfp708 A T 13: 67,222,193 (GRCm39) D62E probably benign 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
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
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'- GCCACTTTGCAATATCAAGAAAGG -3'
(R):5'- TTGTAGCGGTCACTGTCAC -3'

Sequencing Primer
(F):5'- TGCAATATCAAGAAAGGATCTTTGAC -3'
(R):5'- TCTGCCAACATCAGTGAC -3'
Posted On 2019-12-20