Incidental Mutation 'PIT1430001:Ncoa1'
ID 499905
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT1430001 (G1)
Quality Score 100
Status Validated
Chromosome 12
Chromosomal Location 4297362-4527182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4373005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 132 (R132K)
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
AA Change: R132K

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: R132K

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: R21K

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000217794
AA Change: R132K

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000220434
AA Change: R132K

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0773 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (136/137)
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: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A T 12: 71,207,160 (GRCm39) I524F possibly damaging Het
4930511M06Rik T C 18: 57,517,241 (GRCm39) probably benign Het
9330159F19Rik T A 10: 29,100,711 (GRCm39) N361K probably damaging Het
Adgra2 A G 8: 27,604,216 (GRCm39) M469V possibly damaging Het
Akap9 A G 5: 4,079,849 (GRCm39) D1867G probably damaging Het
Ankrd17 T C 5: 90,400,832 (GRCm39) T1687A possibly damaging Het
Ap1m2 G A 9: 21,209,548 (GRCm39) P376L probably damaging Het
Bicc1 A G 10: 70,793,511 (GRCm39) S196P possibly damaging Het
Cacnb2 C T 2: 14,976,412 (GRCm39) R228* probably null Het
Ccdc43 A G 11: 102,582,976 (GRCm39) S83P probably damaging Het
Cdc42bpg T A 19: 6,372,582 (GRCm39) probably null Het
Cdh16 C A 8: 105,344,271 (GRCm39) M89I probably benign Het
Cecr2 A C 6: 120,735,440 (GRCm39) H892P probably benign Het
Chd5 T A 4: 152,455,094 (GRCm39) S859T probably damaging Het
Chrd G A 16: 20,557,748 (GRCm39) probably null Het
Chrna2 T A 14: 66,387,186 (GRCm39) L444Q probably benign Het
Ckap4 A G 10: 84,363,630 (GRCm39) S478P probably damaging Het
Cldn4 A T 5: 134,975,514 (GRCm39) M29K possibly damaging Het
Clpb T C 7: 101,435,926 (GRCm39) V615A possibly damaging Het
Cyb5r4 G A 9: 86,920,791 (GRCm39) G142E probably benign Het
Cyp1a1 A G 9: 57,608,194 (GRCm39) Y274C probably benign Het
D2hgdh T C 1: 93,754,001 (GRCm39) probably benign Het
Dgkh T A 14: 78,818,953 (GRCm39) E919V probably damaging Het
Dnah1 A G 14: 30,984,537 (GRCm39) Y3916H probably damaging Het
Dpp10 A G 1: 123,268,911 (GRCm39) probably benign Het
Dync2i2 T C 2: 29,922,147 (GRCm39) Y438C probably damaging Het
Egfr A G 11: 16,860,214 (GRCm39) T1043A probably benign Het
Elp5 T G 11: 69,857,935 (GRCm39) probably null Het
Emilin3 A T 2: 160,750,402 (GRCm39) M449K possibly damaging Het
Epb41l4a T G 18: 33,930,400 (GRCm39) T686P probably damaging Het
Eppk1 A G 15: 76,105,236 (GRCm38) C2482R probably benign Het
Eps8l3 T C 3: 107,792,183 (GRCm39) L370P probably damaging Het
Erbin A T 13: 103,996,017 (GRCm39) S228R probably damaging Het
Fam149a C T 8: 45,804,743 (GRCm39) E280K probably benign Het
Fam78b T C 1: 166,829,313 (GRCm39) I60T probably benign Het
Fank1 A T 7: 133,478,529 (GRCm39) R197* probably null Het
Fbxo21 C T 5: 118,115,931 (GRCm39) S83F possibly damaging Het
Fbxo4 G C 15: 4,008,782 (GRCm39) T42R probably benign Het
Fhad1 C G 4: 141,637,060 (GRCm39) E1135D probably damaging Het
Fmo1 T A 1: 162,657,622 (GRCm39) E506D probably benign Het
Glipr1l2 A T 10: 111,942,745 (GRCm39) T231S probably benign Het
Gm11651 C G 11: 105,863,917 (GRCm39) probably benign Het
Gm16043 A G 6: 8,426,969 (GRCm39) probably null Het
Gm572 T G 4: 148,755,850 (GRCm39) W389G unknown Het
Gpc6 G A 14: 118,188,594 (GRCm39) W409* probably null Het
Gpr155 T C 2: 73,200,482 (GRCm39) T342A probably benign Het
Hcn4 A C 9: 58,766,833 (GRCm39) H798P unknown Het
Herc2 T C 7: 55,876,702 (GRCm39) S4513P probably damaging Het
Hmcn1 G A 1: 150,684,488 (GRCm39) R361C probably benign Het
Hoxa4 G T 6: 52,168,199 (GRCm39) P157Q possibly damaging Het
Ift122 A C 6: 115,902,705 (GRCm39) probably benign Het
Igfbpl1 G A 4: 45,826,756 (GRCm39) S13L unknown Het
Igsf10 T C 3: 59,235,579 (GRCm39) D1534G probably benign Het
Il1rap T G 16: 26,529,343 (GRCm39) L339V possibly damaging Het
Irf2bpl C T 12: 86,930,229 (GRCm39) R148H possibly damaging Het
Ivns1abp A T 1: 151,237,356 (GRCm39) R58W probably damaging Het
Kcnq5 C T 1: 21,605,405 (GRCm39) V167M probably damaging Het
Lrrcc1 G A 3: 14,610,656 (GRCm39) C337Y probably damaging Het
Lrriq3 A G 3: 154,804,507 (GRCm39) I56V probably benign Het
Masp1 C A 16: 23,332,694 (GRCm39) S47I probably damaging Het
Mcm7 A T 5: 138,165,708 (GRCm39) probably benign Het
Mdm2 G T 10: 117,530,840 (GRCm39) S210R probably damaging Het
Mical1 A G 10: 41,359,492 (GRCm39) R500G possibly damaging Het
Mtarc1 T G 1: 184,539,246 (GRCm39) T37P probably benign Het
Myc A C 15: 61,859,542 (GRCm39) T73P probably damaging Het
Myh15 G A 16: 49,017,254 (GRCm39) probably null Het
Myh4 A G 11: 67,149,658 (GRCm39) M1768V probably benign Het
Nap1l1 T C 10: 111,322,597 (GRCm39) Y66H probably damaging Het
Nfatc3 C T 8: 106,786,605 (GRCm39) S28F possibly damaging Het
Nhlrc3 T A 3: 53,361,050 (GRCm39) K235M probably damaging Het
Nrk G A X: 137,879,463 (GRCm39) E757K probably damaging Het
Obsl1 G A 1: 75,482,811 (GRCm39) P20S probably damaging Het
P2rx7 C T 5: 122,819,279 (GRCm39) A567V probably damaging Het
Pate9 A T 9: 36,446,295 (GRCm39) L39* probably null Het
Pcdhb15 G A 18: 37,608,724 (GRCm39) R652H probably benign Het
Pcdhga4 T C 18: 37,819,267 (GRCm39) V272A probably benign Het
Pcdhgb1 T G 18: 37,814,472 (GRCm39) V321G probably damaging Het
Pde2a C G 7: 101,100,684 (GRCm39) probably benign Het
Pdhb C T 14: 8,170,425 (GRCm38) E109K probably damaging Het
Pkd1 C A 17: 24,788,485 (GRCm39) L748M probably damaging Het
Pkd2 A T 5: 104,607,654 (GRCm39) E51V probably damaging Het
Pkdrej A G 15: 85,705,493 (GRCm39) Y148H probably damaging Het
Polr3gl C G 3: 96,488,228 (GRCm39) probably benign Het
Ppfia1 A T 7: 144,052,073 (GRCm39) L882Q probably damaging Het
Ppp4r3b G T 11: 29,159,434 (GRCm39) R596L probably benign Het
Ppp6r3 G A 19: 3,521,059 (GRCm39) Q85* probably null Het
Prss8 A G 7: 127,521,424 (GRCm39) probably benign Het
Qng1 T A 13: 58,532,827 (GRCm39) K48* probably null Het
Rab22a A G 2: 173,536,963 (GRCm39) I87V probably benign Het
Rev1 A C 1: 38,095,337 (GRCm39) probably benign Het
Rnase13 A G 14: 52,159,987 (GRCm39) Y51H probably damaging Het
Rnf26 T C 9: 44,023,942 (GRCm39) H102R probably damaging Het
Rnf5 T C 17: 34,822,341 (GRCm39) E36G probably damaging Het
Rplp1 T G 9: 61,821,658 (GRCm39) D18A probably benign Het
Rrs1 C A 1: 9,616,150 (GRCm39) D134E probably damaging Het
Sec14l1 A G 11: 117,034,629 (GRCm39) Y166C probably damaging Het
Sec14l2 A T 11: 4,059,209 (GRCm39) Y153* probably null Het
Senp1 A G 15: 97,982,870 (GRCm39) L39P probably damaging Het
Senp2 T A 16: 21,832,864 (GRCm39) probably benign Het
Sh3bp1 G A 15: 78,798,224 (GRCm39) A19T probably benign Het
Sis G A 3: 72,830,162 (GRCm39) P1130S probably damaging Het
Slc16a12 C T 19: 34,654,759 (GRCm39) A95T possibly damaging Het
Slc22a4 A G 11: 53,918,783 (GRCm39) V7A probably benign Het
Slc35c2 C T 2: 165,119,452 (GRCm39) S296N probably benign Het
Slf1 A G 13: 77,198,169 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,859 (GRCm39) V616E possibly damaging Het
Smarca2 T A 19: 26,626,493 (GRCm39) M439K probably benign Het
Snx29 G A 16: 11,221,488 (GRCm39) A305T probably benign Het
Socs5 C T 17: 87,441,044 (GRCm39) probably benign Het
Spata31d1a G T 13: 59,849,010 (GRCm39) H1039Q probably benign Het
Srgap1 G A 10: 121,732,658 (GRCm39) probably benign Het
Synj1 A T 16: 90,761,396 (GRCm39) I650N probably damaging Het
Tac4 A C 11: 95,158,190 (GRCm39) probably benign Het
Tbck A C 3: 132,428,487 (GRCm39) T281P probably benign Het
Tbx22 T C X: 106,720,611 (GRCm39) L62P probably damaging Het
Terf2 G C 8: 107,822,934 (GRCm39) R70G probably damaging Het
Tfdp1 C T 8: 13,422,526 (GRCm39) P138S probably benign Het
Tigd2 T C 6: 59,188,233 (GRCm39) Y367H probably damaging Het
Tmprss15 A T 16: 78,821,640 (GRCm39) probably null Het
Tmprss6 C T 15: 78,324,827 (GRCm39) G741D probably damaging Het
Tnrc6b A C 15: 80,813,387 (GRCm39) T1715P probably damaging Het
Tpcn1 T C 5: 120,686,388 (GRCm39) probably benign Het
Trappc2l T C 8: 123,339,874 (GRCm39) S35P probably damaging Het
Trim63 T C 4: 134,048,484 (GRCm39) probably benign Het
Trim66 G T 7: 109,074,454 (GRCm39) D602E probably damaging Het
Trp53bp1 G A 2: 121,101,756 (GRCm39) P2S probably damaging Het
Tspan14 A G 14: 40,637,488 (GRCm39) L100P probably damaging Het
Tspan15 C T 10: 62,023,899 (GRCm39) E260K probably damaging Het
Ubxn10 T C 4: 138,448,199 (GRCm39) D159G probably benign Het
Unc5a T G 13: 55,151,709 (GRCm39) V713G probably damaging Het
Usp16 C T 16: 87,270,020 (GRCm39) A324V probably damaging Het
Uvssa G A 5: 33,559,914 (GRCm39) R422Q possibly damaging Het
Wipf1 A C 2: 73,267,946 (GRCm39) F151V probably damaging Het
Xpo1 A T 11: 23,226,437 (GRCm39) K104N possibly damaging Het
Ybx3 T C 6: 131,356,422 (GRCm39) T150A probably damaging Het
Yju2 C T 17: 56,271,479 (GRCm39) probably benign Het
Zap70 T A 1: 36,818,250 (GRCm39) S312R possibly damaging Het
Zfp534 T G 4: 147,759,880 (GRCm39) K263T probably benign Het
Zfp534 T G 4: 147,759,917 (GRCm39) N251H 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
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
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
Posted On 2017-11-21