Incidental Mutation 'R7936:Ncoa1'
ID 648760
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 045982-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7936 (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 4385873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 88 (S88P)
Ref Sequence ENSEMBL: ENSMUSP00000151358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217674] [ENSMUST00000217794] [ENSMUST00000219715] [ENSMUST00000220434]
AlphaFold P70365
Predicted Effect possibly damaging
Transcript: ENSMUST00000085814
AA Change: S88P

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: S88P

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 possibly damaging
Transcript: ENSMUST00000217794
AA Change: S88P

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000219715
Predicted Effect possibly damaging
Transcript: ENSMUST00000220434
AA Change: S88P

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (64/64)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,900,445 (GRCm39) L438* probably null Het
Adamts18 T A 8: 114,493,760 (GRCm39) I460F probably damaging Het
Api5 C T 2: 94,268,392 (GRCm39) probably benign Het
Arap2 A G 5: 62,888,048 (GRCm39) S433P probably damaging Het
Arhgap26 T C 18: 39,338,340 (GRCm39) Y371H probably damaging Het
Asf1b T C 8: 84,695,848 (GRCm39) I163T probably benign Het
Cacna2d2 A G 9: 107,401,326 (GRCm39) N696S probably damaging Het
Carns1 A C 19: 4,216,152 (GRCm39) S677A probably benign Het
Cd276 G A 9: 58,448,113 (GRCm39) probably benign Het
Cdk8 T A 5: 146,236,644 (GRCm39) M353K possibly damaging Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Chsy3 A G 18: 59,542,418 (GRCm39) I519V probably damaging Het
Chtop T C 3: 90,414,658 (GRCm39) probably benign Het
Clstn3 T A 6: 124,408,972 (GRCm39) D892V possibly damaging Het
Col16a1 A T 4: 129,990,664 (GRCm39) probably null Het
Dnah5 A G 15: 28,345,983 (GRCm39) E2441G possibly damaging Het
Dpy19l2 T G 9: 24,469,454 (GRCm39) D734A probably damaging Het
Dusp2 T A 2: 127,178,812 (GRCm39) Y172* probably null Het
Efcab3 A G 11: 104,890,524 (GRCm39) N4202S possibly damaging Het
Efcab3 G A 11: 104,937,385 (GRCm39) probably null Het
Eml4 G A 17: 83,781,115 (GRCm39) R771Q possibly damaging Het
Fat2 T A 11: 55,200,993 (GRCm39) M694L probably benign Het
Fat2 C A 11: 55,201,986 (GRCm39) E363* probably null Het
Gdpgp1 A G 7: 79,888,826 (GRCm39) I286V probably damaging Het
Gps1 T A 11: 120,677,199 (GRCm39) V166E probably damaging Het
H60b T A 10: 22,162,055 (GRCm39) N93K probably benign Het
Imp4 C T 1: 34,482,114 (GRCm39) T79I probably benign Het
Kank3 A G 17: 34,037,841 (GRCm39) S485G probably benign Het
Kcnv2 A G 19: 27,300,167 (GRCm39) N6S probably benign Het
Krba1 A T 6: 48,388,603 (GRCm39) Q534L probably damaging Het
Lgr4 A G 2: 109,836,863 (GRCm39) N399S probably damaging Het
Lgr5 A G 10: 115,288,952 (GRCm39) V564A probably damaging Het
Lrtm2 A G 6: 119,297,394 (GRCm39) F216L probably benign Het
Lsm8 T A 6: 18,849,658 (GRCm39) M22K probably benign Het
Mboat2 C T 12: 25,005,392 (GRCm39) T389M probably damaging Het
Mcoln1 T G 8: 3,555,924 (GRCm39) I73S probably damaging Het
Myh7 T A 14: 55,216,920 (GRCm39) I1146F possibly damaging Het
Naa16 G A 14: 79,578,486 (GRCm39) T666I possibly damaging Het
Obscn T C 11: 58,941,334 (GRCm39) T4496A possibly damaging Het
Or13a28 T C 7: 140,217,652 (GRCm39) F13L probably damaging Het
Or7a35 T A 10: 78,853,872 (GRCm39) F239I probably damaging Het
Pdxk G T 10: 78,277,012 (GRCm39) A262D possibly damaging Het
Pebp4 T A 14: 70,089,082 (GRCm39) L68Q probably damaging Het
Pfdn5 C T 15: 102,236,978 (GRCm39) H77Y possibly damaging Het
Pld1 T C 3: 28,130,651 (GRCm39) Y484H probably damaging Het
Pou3f3 C A 1: 42,736,560 (GRCm39) N85K unknown Het
Ppm1m C A 9: 106,075,144 (GRCm39) A134S probably damaging Het
Prdm11 A T 2: 92,806,106 (GRCm39) S281R possibly damaging Het
Prdm2 C A 4: 142,862,434 (GRCm39) L285F probably damaging Het
Ptchd3 C T 11: 121,721,939 (GRCm39) R271* probably null Het
Ptprq A C 10: 107,488,572 (GRCm39) V955G probably damaging Het
Pygb A T 2: 150,657,589 (GRCm39) M351L probably benign Het
Rcl1 G A 19: 29,095,805 (GRCm39) probably null Het
Sgip1 A T 4: 102,786,097 (GRCm39) T351S possibly damaging Het
Slc22a5 T C 11: 53,760,215 (GRCm39) N367S probably damaging Het
Sox6 A G 7: 115,143,830 (GRCm39) V437A probably benign Het
Spata16 T A 3: 26,721,572 (GRCm39) M31K possibly damaging Het
Stab1 C A 14: 30,879,372 (GRCm39) V703F possibly damaging Het
Tbc1d4 C T 14: 101,703,190 (GRCm39) G752R probably damaging Het
Tent4b G A 8: 88,978,913 (GRCm39) G505R probably null Het
Tes3-ps C T 13: 49,647,460 (GRCm39) A112V probably benign Het
Tnfrsf19 T C 14: 61,208,382 (GRCm39) T380A probably benign Het
Trim75 C T 8: 65,435,190 (GRCm39) G420E probably damaging Het
Txlnb A G 10: 17,703,712 (GRCm39) D290G probably benign Het
Unc5c T A 3: 141,534,238 (GRCm39) F920I possibly damaging Het
Vmn1r233 T A 17: 21,214,237 (GRCm39) R238* probably null Het
Vmn2r113 A G 17: 23,176,917 (GRCm39) E567G probably benign Het
Vmn2r97 T A 17: 19,150,662 (GRCm39) I503K probably damaging Het
Wdr62 A G 7: 29,964,584 (GRCm39) W387R probably damaging Het
Zfp36l2 A T 17: 84,495,090 (GRCm39) D11E 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
R7885:Ncoa1 UTSW 12 4,389,044 (GRCm39) missense probably damaging 1.00
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'- TGACGCAGCAGTCTTTATAATCAA -3'
(R):5'- GTGTTCACATGCAGTAATTTAAACTGT -3'

Sequencing Primer
(F):5'- GCTTTTCCTTTTGGGACCA -3'
(R):5'- GAGACAGCTATATCAGGGTCCTTTC -3'
Posted On 2020-09-15