Incidental Mutation 'IGL03048:Ncoa1'
ID 391828
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 # IGL03048 (G1)
Quality Score 182
Status Validated
Chromosome 12
Chromosomal Location 4297362-4527182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4317922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1137 (R1137G)
Ref Sequence ENSEMBL: ENSMUSP00000151358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217794] [ENSMUST00000220434]
AlphaFold P70365
Predicted Effect probably damaging
Transcript: ENSMUST00000085814
AA Change: R1137G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: R1137G

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 damaging
Transcript: ENSMUST00000217794
AA Change: R1137G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect unknown
Transcript: ENSMUST00000218191
AA Change: R148G
Predicted Effect probably benign
Transcript: ENSMUST00000219373
Predicted Effect probably damaging
Transcript: ENSMUST00000220434
AA Change: R1137G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.2046 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,868,711 (GRCm39) probably null Het
Anapc4 C T 5: 52,997,075 (GRCm39) T116I probably benign Het
Arhgap45 C T 10: 79,852,851 (GRCm39) R14C probably damaging Het
Bysl T C 17: 47,913,560 (GRCm39) probably null Het
Ccdc166 T A 15: 75,854,050 (GRCm39) N10I possibly damaging Het
Chd1l T C 3: 97,505,079 (GRCm39) S163G probably benign Het
Col6a3 A G 1: 90,737,970 (GRCm39) V576A possibly damaging Het
Cpped1 T C 16: 11,646,339 (GRCm39) T162A probably benign Het
Dcbld1 A T 10: 52,180,722 (GRCm39) I200F probably damaging Het
Dock6 T C 9: 21,720,866 (GRCm39) E1713G probably damaging Het
Eif4a3l1 A T 6: 136,306,198 (GRCm39) T220S probably damaging Het
Evx1 T C 6: 52,292,739 (GRCm39) L130P probably benign Het
Fam168a A G 7: 100,484,545 (GRCm39) T228A probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Firrm G A 1: 163,792,094 (GRCm39) A608V probably benign Het
Foxp4 A T 17: 48,191,765 (GRCm39) M124K unknown Het
Gabrr3 A G 16: 59,250,493 (GRCm39) H164R probably benign Het
Gapdhrt T A 14: 11,281,873 (GRCm38) I21F probably benign Het
Greb1 C T 12: 16,783,332 (GRCm39) C134Y probably damaging Het
Hddc2 G A 10: 31,192,332 (GRCm39) V79I possibly damaging Het
Lbr T C 1: 181,666,109 (GRCm39) probably benign Het
Mamdc4 C T 2: 25,459,084 (GRCm39) R229K possibly damaging Het
Mtor T C 4: 148,630,847 (GRCm39) probably benign Het
Nlrp4d T C 7: 10,092,881 (GRCm39) noncoding transcript Het
Oasl1 T A 5: 115,075,400 (GRCm39) S487T possibly damaging Het
Oprm1 T C 10: 6,779,064 (GRCm39) I91T probably damaging Het
Or11j4 G T 14: 50,630,245 (GRCm39) V11L possibly damaging Het
Or1e26 G C 11: 73,479,831 (GRCm39) H244Q possibly damaging Het
Or8g33 A G 9: 39,338,065 (GRCm39) F101L probably benign Het
Pdzk1ip1 T A 4: 114,950,181 (GRCm39) D147E probably benign Het
Per1 A G 11: 68,995,552 (GRCm39) K711E probably damaging Het
Rab3gap1 A G 1: 127,865,214 (GRCm39) N734S probably damaging Het
Rapgefl1 T C 11: 98,727,990 (GRCm39) L4P possibly damaging Het
Sgk2 A G 2: 162,837,680 (GRCm39) Y101C probably damaging Het
Tmem129 A G 5: 33,812,811 (GRCm39) V179A possibly damaging Het
Ttn T C 2: 76,719,259 (GRCm39) probably benign Het
Ttyh2 T A 11: 114,587,521 (GRCm39) M174K probably benign Het
Vmn2r13 G A 5: 109,304,151 (GRCm39) A760V probably damaging Het
Vmn2r82 A T 10: 79,232,460 (GRCm39) I820F probably damaging Het
Zswim4 T C 8: 84,938,604 (GRCm39) M1093V possibly 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
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
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'- CATCTGAGGACTGATGCCAG -3'
(R):5'- ATGGTTTACTCCAAGCTACCAG -3'

Sequencing Primer
(F):5'- TGATGCCAGCGCCAAACTG -3'
(R):5'- CAGCTTTATCCTATAAGCATTCCAG -3'
Posted On 2016-06-07