Incidental Mutation 'R0467:Ncoa1'
ID 41705
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 038667-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0467 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4297362-4527182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4317687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1215 (M1215T)
Ref Sequence ENSEMBL: ENSMUSP00000151358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217794] [ENSMUST00000220434]
AlphaFold P70365
Predicted Effect possibly damaging
Transcript: ENSMUST00000085814
AA Change: M1215T

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: M1215T

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 possibly damaging
Transcript: ENSMUST00000217794
AA Change: M1215T

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect unknown
Transcript: ENSMUST00000218191
AA Change: M226T
Predicted Effect probably benign
Transcript: ENSMUST00000219373
Predicted Effect possibly damaging
Transcript: ENSMUST00000220434
AA Change: M1215T

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.1239 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.7%
  • 20x: 93.3%
Validation Efficiency 98% (52/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,532,151 (GRCm39) probably benign Het
Anapc1 A G 2: 128,510,963 (GRCm39) I511T probably damaging Het
Atf6 A T 1: 170,621,589 (GRCm39) H477Q probably damaging Het
C4b A G 17: 34,955,101 (GRCm39) V795A probably benign Het
Cdh26 C T 2: 178,123,425 (GRCm39) R675C possibly damaging Het
Cdk12 T C 11: 98,094,405 (GRCm39) V71A probably damaging Het
Cul3 A T 1: 80,258,580 (GRCm39) D419E probably benign Het
Ddi2 A G 4: 141,412,495 (GRCm39) I139T probably benign Het
Dnaaf1 T A 8: 120,317,471 (GRCm39) D333E probably benign Het
Dnase1 A G 16: 3,857,013 (GRCm39) D7G probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Galc A C 12: 98,208,904 (GRCm39) I250R probably damaging Het
Garin1b G A 6: 29,326,606 (GRCm39) S241N probably damaging Het
Gcfc2 T C 6: 81,900,863 (GRCm39) V59A possibly damaging Het
Gm6133 A C 18: 78,393,305 (GRCm39) S100R probably benign Het
Iba57 T C 11: 59,054,265 (GRCm39) T85A probably benign Het
Ipo4 A T 14: 55,872,983 (GRCm39) M1K probably null Het
Ippk A G 13: 49,584,341 (GRCm39) probably null Het
Kcnk10 A T 12: 98,456,204 (GRCm39) I209N probably benign Het
Klk14 T C 7: 43,343,534 (GRCm39) L122P probably benign Het
Ltbp1 T A 17: 75,589,424 (GRCm39) probably null Het
Mab21l4 A T 1: 93,080,766 (GRCm39) I380N probably damaging Het
Mcm3 T C 1: 20,875,071 (GRCm39) D737G probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Nalcn T A 14: 123,528,459 (GRCm39) T1456S probably benign Het
Nckap1l C T 15: 103,405,854 (GRCm39) P1097S probably benign Het
Nomo1 T A 7: 45,721,911 (GRCm39) probably null Het
Obox5 T A 7: 15,491,932 (GRCm39) C116S possibly damaging Het
Or2ag2b T A 7: 106,417,568 (GRCm39) S93T possibly damaging Het
Or51a43 C T 7: 103,717,332 (GRCm39) R302H probably benign Het
Or5a1 C A 19: 12,097,900 (GRCm39) A59S probably benign Het
Pcdhb14 G T 18: 37,582,277 (GRCm39) R461L probably damaging Het
Pdgfra A G 5: 75,355,697 (GRCm39) D1069G probably damaging Het
Pgr C T 9: 8,900,779 (GRCm39) A104V possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Potegl A G 2: 23,102,832 (GRCm39) E190G possibly damaging Het
Rassf3 A G 10: 121,253,109 (GRCm39) probably benign Het
Rgs22 G T 15: 36,099,941 (GRCm39) S258* probably null Het
Rsph6a C A 7: 18,791,594 (GRCm39) D254E possibly damaging Het
Sgk1 A G 10: 21,872,257 (GRCm39) probably benign Het
Shcbp1l G A 1: 153,308,928 (GRCm39) C174Y probably damaging Het
Spata31g1 T C 4: 42,972,715 (GRCm39) S683P probably benign Het
Sulf1 T A 1: 12,867,144 (GRCm39) N109K probably damaging Het
Taf7l2 G A 10: 115,949,058 (GRCm39) A156V probably benign Het
Tas2r115 T A 6: 132,714,682 (GRCm39) I90L probably benign Het
Tmem200a T C 10: 25,870,002 (GRCm39) H89R probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Xrn1 T C 9: 95,906,244 (GRCm39) S1212P probably damaging Het
Zfp408 T C 2: 91,475,882 (GRCm39) Y424C 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
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
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'- AGCCTCGACTGTACCACTTACAGC -3'
(R):5'- GGGAACAACATCCCTCCTTCATCTG -3'

Sequencing Primer
(F):5'- GACTGTACCACTTACAGCCTTTC -3'
(R):5'- TGGACTCCCAGTTCAAATGG -3'
Posted On 2013-05-23