Incidental Mutation 'R5531:Ncoa1'
ID 486858
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 043089-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5531 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4297362-4527182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4303746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1362 (M1362L)
Ref Sequence ENSEMBL: ENSMUSP00000151358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217794] [ENSMUST00000220434]
AlphaFold P70365
Predicted Effect probably benign
Transcript: ENSMUST00000085814
AA Change: M1362L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: M1362L

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: ENSMUST00000217794
Predicted Effect unknown
Transcript: ENSMUST00000218191
AA Change: M373L
Predicted Effect unknown
Transcript: ENSMUST00000219373
AA Change: M110L
Predicted Effect probably benign
Transcript: ENSMUST00000220434
AA Change: M1362L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.5%
  • 10x: 95.6%
  • 20x: 92.2%
Validation Efficiency 97% (64/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,342,767 (GRCm39) F878L possibly damaging Het
Acr T A 15: 89,458,146 (GRCm39) Y276N probably damaging Het
AI987944 A T 7: 41,023,814 (GRCm39) Y388* probably null Het
Ankrd29 G A 18: 12,412,835 (GRCm39) T114I probably damaging Het
Ap5z1 T C 5: 142,453,536 (GRCm39) M168T probably benign Het
Bard1 A C 1: 71,085,880 (GRCm39) C608W probably damaging Het
Brd10 A G 19: 29,731,072 (GRCm39) S647P possibly damaging Het
Clspn A G 4: 126,471,566 (GRCm39) R907G probably benign Het
Cubn C T 2: 13,355,743 (GRCm39) V1830I probably benign Het
Cwc22 T C 2: 77,754,913 (GRCm39) N221S probably damaging Het
Dact3 A G 7: 16,609,540 (GRCm39) E64G possibly damaging Het
Dhx40 T C 11: 86,680,330 (GRCm39) E381G possibly damaging Het
Dnah7a A G 1: 53,458,907 (GRCm39) S3744P possibly damaging Het
Epha4 A G 1: 77,351,513 (GRCm39) V914A probably benign Het
Fbxw10 G A 11: 62,753,482 (GRCm39) C492Y probably damaging Het
G930045G22Rik C A 6: 50,824,756 (GRCm39) noncoding transcript Het
Gm21103 A T 14: 17,484,855 (GRCm39) I63K probably damaging Het
Gpr156 T C 16: 37,825,619 (GRCm39) V612A probably benign Het
Gucy2g A G 19: 55,229,572 (GRCm39) S33P probably benign Het
Hibch A G 1: 52,884,228 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,619,539 (GRCm39) C1192S probably damaging Het
Hsd11b1 CGG CG 1: 192,922,557 (GRCm39) probably null Het
Ifi214 A G 1: 173,352,686 (GRCm39) Y248H probably damaging Het
Igf2bp2 T G 16: 21,907,835 (GRCm39) I89L probably damaging Het
Il2ra A T 2: 11,681,703 (GRCm39) T103S possibly damaging Het
Ino80 T A 2: 119,276,056 (GRCm39) M407L probably benign Het
Jade1 A C 3: 41,567,946 (GRCm39) K671N probably benign Het
Lca5 C T 9: 83,280,648 (GRCm39) S384N probably benign Het
Lce1l G T 3: 92,757,804 (GRCm39) P18H unknown Het
Lrrc8d T C 5: 105,945,536 (GRCm39) probably benign Het
Ly75 T C 2: 60,195,489 (GRCm39) N223S probably damaging Het
Mcm3 A T 1: 20,873,768 (GRCm39) F784Y possibly damaging Het
Ncf4 T G 15: 78,144,988 (GRCm39) probably benign Het
Or1e16 T C 11: 73,286,003 (GRCm39) T282A probably benign Het
Or5p5 A G 7: 107,414,451 (GRCm39) Y220C probably benign Het
Or6c8b G C 10: 128,882,433 (GRCm39) F166L probably damaging Het
Prkg2 T C 5: 99,115,593 (GRCm39) R543G probably damaging Het
Ptprd A C 4: 75,977,904 (GRCm39) probably null Het
Scap A G 9: 110,210,497 (GRCm39) S969G possibly damaging Het
Sgk2 T C 2: 162,836,624 (GRCm39) F60S probably benign Het
Sgpp1 G T 12: 75,781,981 (GRCm39) Y119* probably null Het
Siglech A T 7: 55,418,413 (GRCm39) K31* probably null Het
Slc40a1 A G 1: 45,951,498 (GRCm39) Y220H probably damaging Het
Smurf2 G A 11: 106,743,389 (GRCm39) T219M possibly damaging Het
Speer4f2 A G 5: 17,581,526 (GRCm39) K156R possibly damaging Het
Spp1 T G 5: 104,588,424 (GRCm39) D276E probably benign Het
Stk32b T C 5: 37,617,078 (GRCm39) probably null Het
Stxbp5 G A 10: 9,638,668 (GRCm39) Q1044* probably null Het
Sv2c T A 13: 96,097,886 (GRCm39) T696S probably damaging Het
Tubgcp2 A C 7: 139,584,937 (GRCm39) probably null Het
Ubap1l C T 9: 65,278,973 (GRCm39) P91S probably damaging Het
Vmn2r76 A T 7: 85,874,657 (GRCm39) D773E probably damaging Het
Xirp2 C G 2: 67,345,646 (GRCm39) S2629C probably benign Het
Zbtb20 C A 16: 43,431,230 (GRCm39) C580* probably null Het
Zfp957 T A 14: 79,450,622 (GRCm39) Q392H unknown Het
Zfyve19 C T 2: 119,042,427 (GRCm39) T178M probably damaging Het
Zswim6 T C 13: 107,906,128 (GRCm39) noncoding transcript 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
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'- CATATGCCATGTGACGTCCTCC -3'
(R):5'- TTGACTCTCACAAGCCAAGC -3'

Sequencing Primer
(F):5'- CACGTATCCAGAGTGATCGAATCTG -3'
(R):5'- CCTAGGTCAGCAAGAAAGCAGC -3'
Posted On 2017-08-28