Incidental Mutation 'R9082:Ncoa1'
ID 690092
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 068901-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9082 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 4297362-4527182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4346106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 414 (V414I)
Ref Sequence ENSEMBL: ENSMUSP00000151358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217674] [ENSMUST00000217794] [ENSMUST00000219275] [ENSMUST00000220434]
AlphaFold P70365
Predicted Effect probably benign
Transcript: ENSMUST00000085814
AA Change: V414I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: V414I

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: V303I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000217794
AA Change: V414I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000219275
Predicted Effect probably benign
Transcript: ENSMUST00000220434
AA Change: V414I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm G T 5: 90,698,095 (GRCm39) C499F probably damaging Het
Agap2 A G 10: 126,918,911 (GRCm39) E429G probably damaging Het
Ankrd22 A T 19: 34,126,662 (GRCm39) V56D probably damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Ccdc168 G A 1: 44,099,874 (GRCm39) S408L unknown Het
Cdk4 T A 10: 126,900,732 (GRCm39) L128Q probably damaging Het
Clu T C 14: 66,217,153 (GRCm39) S329P probably damaging Het
Cntnap5c A G 17: 58,637,335 (GRCm39) N1071D probably damaging Het
Col5a1 T C 2: 27,852,122 (GRCm39) S540P possibly damaging Het
Cpne2 A C 8: 95,295,237 (GRCm39) I441L probably benign Het
Ctu2 T C 8: 123,203,952 (GRCm39) S87P probably damaging Het
Dhodh G T 8: 110,322,734 (GRCm39) N211K probably damaging Het
Dtnb G A 12: 3,822,740 (GRCm39) A570T possibly damaging Het
Eif3m A T 2: 104,836,217 (GRCm39) V209E probably damaging Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Fktn T C 4: 53,720,010 (GRCm39) V8A unknown Het
Ftdc1 T C 16: 58,437,294 (GRCm39) R5G probably benign Het
Gcnt1 G T 19: 17,307,559 (GRCm39) S55R probably benign Het
Gm11011 G T 2: 169,426,424 (GRCm39) P63Q Het
Grk5 T C 19: 61,034,567 (GRCm39) I105T possibly damaging Het
Gskip G A 12: 105,665,009 (GRCm39) S16N probably benign Het
Gys1 C A 7: 45,088,917 (GRCm39) N169K probably benign Het
Itgb2 T C 10: 77,384,503 (GRCm39) L208P probably damaging Het
Kcnh7 A G 2: 62,607,878 (GRCm39) C568R probably damaging Het
Krt84 C T 15: 101,440,814 (GRCm39) G126D unknown Het
Lrrc26 T A 2: 25,180,344 (GRCm39) F115Y probably damaging Het
Mul1 T C 4: 138,166,945 (GRCm39) I338T probably damaging Het
Ncam2 T A 16: 81,412,660 (GRCm39) L716H probably damaging Het
Negr1 C A 3: 156,774,876 (GRCm39) C197* probably null Het
Nisch G T 14: 30,899,331 (GRCm39) A438E unknown Het
Nsun5 T C 5: 135,402,828 (GRCm39) L174P probably damaging Het
Obscn A T 11: 58,903,612 (GRCm39) V7454E probably benign Het
Optn A C 2: 5,059,451 (GRCm39) N22K probably damaging Het
Or5k15 C T 16: 58,709,834 (GRCm39) V250M probably damaging Het
Or6d13 G A 6: 116,517,969 (GRCm39) C185Y probably damaging Het
Pcdhb22 A G 18: 37,653,047 (GRCm39) N248S probably damaging Het
Pcnx2 A C 8: 126,613,753 (GRCm39) L566R probably damaging Het
Pdlim5 C T 3: 142,009,163 (GRCm39) V191I possibly damaging Het
Pdzrn3 C T 6: 101,146,094 (GRCm39) probably null Het
Peak1 A T 9: 56,165,504 (GRCm39) I808N probably benign Het
Pomt1 A C 2: 32,142,973 (GRCm39) Y617S probably damaging Het
Ptch2 G A 4: 116,962,297 (GRCm39) probably null Het
Rptn A G 3: 93,302,928 (GRCm39) H87R possibly damaging Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Slc37a4 A G 9: 44,313,016 (GRCm39) T333A probably benign Het
Slc5a7 A G 17: 54,604,139 (GRCm39) V9A probably benign Het
Slc6a20a A G 9: 123,507,832 (GRCm39) F14L possibly damaging Het
Smg7 A T 1: 152,715,928 (GRCm39) M1062K probably damaging Het
Tsc22d4 T C 5: 137,749,509 (GRCm39) Y262H probably damaging Het
Vmn2r83 C T 10: 79,304,894 (GRCm39) H35Y probably benign Het
Zc3h13 CAGAGACCGGGACAGAAGGAGAGAC CAGAGAC 14: 75,569,381 (GRCm39) probably benign Het
Zeb1 C T 18: 5,772,557 (GRCm39) H949Y probably damaging Het
Zfp184 T A 13: 22,143,636 (GRCm39) H447Q probably damaging Het
Zfp551 T C 7: 12,151,004 (GRCm39) E135G probably 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
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
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'- AAAGAGGGATTGCTGCTCTG -3'
(R):5'- AATGCGGCAAATGGTCTTTC -3'

Sequencing Primer
(F):5'- AGGGATTGCTGCTCTGGGAAC -3'
(R):5'- GCGGCAAATGGTCTTTCTTATAATAG -3'
Posted On 2021-11-19