Incidental Mutation 'R6051:Ncoa3'
ID 484072
Institutional Source Beutler Lab
Gene Symbol Ncoa3
Ensembl Gene ENSMUSG00000027678
Gene Name nuclear receptor coactivator 3
Synonyms 2010305B15Rik, AIB1, KAT13B, RAC3, TRAM1, TRAM-1, bHLHe42, pCIP, Src3
MMRRC Submission 044219-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R6051 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 165834557-165915162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 165900685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 868 (L868S)
Ref Sequence ENSEMBL: ENSMUSP00000104875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088095] [ENSMUST00000109252]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000088095
AA Change: L868S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: L868S

DomainStartEndE-ValueType
HLH 32 89 5.63e-9 SMART
PAS 113 179 1.16e-11 SMART
Pfam:PAS_11 261 372 1.6e-34 PFAM
Pfam:NCOA_u2 451 564 7.1e-46 PFAM
low complexity region 586 599 N/A INTRINSIC
Pfam:SRC-1 608 696 1.6e-32 PFAM
Pfam:DUF4927 714 801 2e-32 PFAM
coiled coil region 960 997 N/A INTRINSIC
Pfam:Nuc_rec_co-act 1056 1104 2.1e-27 PFAM
low complexity region 1180 1197 N/A INTRINSIC
low complexity region 1221 1233 N/A INTRINSIC
low complexity region 1243 1263 N/A INTRINSIC
DUF1518 1270 1327 1.08e-21 SMART
low complexity region 1384 1398 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109252
AA Change: L868S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: L868S

DomainStartEndE-ValueType
HLH 32 89 5.63e-9 SMART
PAS 113 179 1.16e-11 SMART
Pfam:PAS_11 261 372 4.1e-34 PFAM
low complexity region 438 467 N/A INTRINSIC
low complexity region 502 522 N/A INTRINSIC
low complexity region 527 535 N/A INTRINSIC
low complexity region 586 599 N/A INTRINSIC
Pfam:SRC-1 608 696 3.5e-28 PFAM
coiled coil region 960 997 N/A INTRINSIC
Pfam:Nuc_rec_co-act 1056 1106 6.6e-29 PFAM
low complexity region 1180 1197 N/A INTRINSIC
low complexity region 1218 1232 N/A INTRINSIC
low complexity region 1242 1262 N/A INTRINSIC
DUF1518 1269 1326 1.08e-21 SMART
low complexity region 1383 1397 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139658
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010]
PHENOTYPE: Nullizygous mice exhibit growth defects and reduced serum IGF-1 levels and may show impaired proliferative responses to various factors, delayed mammary gland growth and puberty, reproductive dysfunction, susceptibility to endotoxin shock, altered lymphopoiesis, and protection against obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,231,304 (GRCm39) A1021S possibly damaging Het
Abl2 A G 1: 156,469,655 (GRCm39) D869G probably damaging Het
Adamts9 G A 6: 92,836,907 (GRCm39) A615V possibly damaging Het
Adamts9 A G 6: 92,867,099 (GRCm39) Y96H probably damaging Het
Arhgef37 A G 18: 61,640,345 (GRCm39) I238T probably damaging Het
Atr T A 9: 95,790,422 (GRCm39) H1587Q possibly damaging Het
BB014433 T C 8: 15,092,179 (GRCm39) T225A possibly damaging Het
Bcas2 T C 3: 103,081,657 (GRCm39) Y87H possibly damaging Het
Brca1 C T 11: 101,415,072 (GRCm39) E160K probably damaging Het
Cd2ap T C 17: 43,107,219 (GRCm39) *638W probably null Het
Chd2 A T 7: 73,085,590 (GRCm39) D1681E probably benign Het
Cit C T 5: 115,984,464 (GRCm39) P12L probably benign Het
Cracdl G T 1: 37,663,306 (GRCm39) P864Q probably damaging Het
Crisp1 T C 17: 40,616,017 (GRCm39) Y120C possibly damaging Het
Cyp2c65 A G 19: 39,049,610 (GRCm39) D46G probably benign Het
Cyp2d34 A T 15: 82,500,971 (GRCm39) V387D probably damaging Het
E130311K13Rik T C 3: 63,823,062 (GRCm39) H194R probably benign Het
Egfr C A 11: 16,833,607 (GRCm39) T625N possibly damaging Het
Fat3 A G 9: 16,286,751 (GRCm39) V924A possibly damaging Het
Fgd6 T C 10: 93,973,427 (GRCm39) probably null Het
Galnt6 A T 15: 100,592,549 (GRCm39) C553S probably damaging Het
Gm5617 T C 9: 48,407,187 (GRCm39) L107P possibly damaging Het
Hectd1 G T 12: 51,800,887 (GRCm39) T2035N probably benign Het
Hp1bp3 A G 4: 137,961,615 (GRCm39) T154A possibly damaging Het
Il10rb A G 16: 91,218,752 (GRCm39) T262A probably benign Het
Kansl1l A T 1: 66,765,885 (GRCm39) N704K probably null Het
Kbtbd12 T C 6: 88,594,930 (GRCm39) D300G possibly damaging Het
Lama4 G A 10: 38,943,898 (GRCm39) A734T probably benign Het
Mllt6 G T 11: 97,571,569 (GRCm39) G1069* probably null Het
Mns1 T C 9: 72,356,735 (GRCm39) L302P probably damaging Het
Muc5ac T A 7: 141,365,594 (GRCm39) C2039S possibly damaging Het
Myof A G 19: 38,012,809 (GRCm39) L42P probably damaging Het
Ndc80 C T 17: 71,824,573 (GRCm39) G212E probably benign Het
Ntn4 A G 10: 93,581,657 (GRCm39) H610R probably benign Het
Nufip2 T A 11: 77,582,742 (GRCm39) Y219N probably damaging Het
Or51m1 T C 7: 103,578,084 (GRCm39) F18S probably damaging Het
Pbxip1 T C 3: 89,350,477 (GRCm39) S41P probably benign Het
Phactr2 A T 10: 13,137,555 (GRCm39) C196S probably null Het
Ppp3ca T A 3: 136,581,883 (GRCm39) Y140N probably damaging Het
Ptprb C A 10: 116,176,995 (GRCm39) Y1260* probably null Het
Rap1a C T 3: 105,657,613 (GRCm39) R2H possibly damaging Het
Rbbp8 G A 18: 11,871,664 (GRCm39) V794I probably benign Het
Rbks T C 5: 31,809,163 (GRCm39) N200S probably damaging Het
Relch G T 1: 105,648,997 (GRCm39) G712V probably damaging Het
Rnf186 G T 4: 138,695,277 (GRCm39) K272N probably damaging Het
Rtl1 G A 12: 109,559,458 (GRCm39) P794S probably damaging Het
Tbc1d30 T A 10: 121,132,750 (GRCm39) I205F probably damaging Het
Tkt C T 14: 30,290,153 (GRCm39) P261S probably benign Het
Trp53 G A 11: 69,480,434 (GRCm39) R267H possibly damaging Het
Ttc14 T C 3: 33,863,073 (GRCm39) probably benign Het
Ttn A G 2: 76,737,805 (GRCm39) S4245P probably benign Het
Vmn1r75 A T 7: 11,614,978 (GRCm39) I237F probably damaging Het
Vmn2r57 T A 7: 41,097,896 (GRCm39) H57L probably benign Het
Wdr62 T C 7: 29,960,809 (GRCm39) N40S possibly damaging Het
Xcr1 A T 9: 123,685,181 (GRCm39) F194I probably benign Het
Zmiz1 T A 14: 25,572,494 (GRCm39) M1K probably null Het
Other mutations in Ncoa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Ncoa3 APN 2 165,893,529 (GRCm39) splice site probably null
IGL01068:Ncoa3 APN 2 165,894,715 (GRCm39) missense probably damaging 1.00
IGL01300:Ncoa3 APN 2 165,910,381 (GRCm39) missense probably benign 0.41
IGL01336:Ncoa3 APN 2 165,896,443 (GRCm39) missense probably benign
IGL01533:Ncoa3 APN 2 165,896,945 (GRCm39) missense probably benign 0.03
IGL01658:Ncoa3 APN 2 165,893,222 (GRCm39) splice site probably benign
IGL02053:Ncoa3 APN 2 165,896,754 (GRCm39) missense probably damaging 1.00
IGL02138:Ncoa3 APN 2 165,897,182 (GRCm39) missense probably benign
IGL02167:Ncoa3 APN 2 165,912,056 (GRCm39) missense probably damaging 1.00
IGL02217:Ncoa3 APN 2 165,897,266 (GRCm39) missense probably damaging 1.00
IGL02312:Ncoa3 APN 2 165,899,120 (GRCm39) missense probably benign 0.10
IGL02381:Ncoa3 APN 2 165,894,737 (GRCm39) missense probably damaging 1.00
IGL02568:Ncoa3 APN 2 165,911,277 (GRCm39) missense probably damaging 1.00
IGL02658:Ncoa3 APN 2 165,893,313 (GRCm39) missense probably benign 0.01
IGL02806:Ncoa3 APN 2 165,894,352 (GRCm39) missense probably benign 0.25
R0054:Ncoa3 UTSW 2 165,897,098 (GRCm39) missense possibly damaging 0.67
R0054:Ncoa3 UTSW 2 165,897,098 (GRCm39) missense possibly damaging 0.67
R0240:Ncoa3 UTSW 2 165,896,320 (GRCm39) missense probably benign
R0240:Ncoa3 UTSW 2 165,896,320 (GRCm39) missense probably benign
R0333:Ncoa3 UTSW 2 165,896,211 (GRCm39) missense probably damaging 1.00
R0379:Ncoa3 UTSW 2 165,896,422 (GRCm39) missense probably damaging 0.97
R0411:Ncoa3 UTSW 2 165,910,463 (GRCm39) missense probably benign 0.31
R0734:Ncoa3 UTSW 2 165,911,111 (GRCm39) unclassified probably benign
R1434:Ncoa3 UTSW 2 165,897,430 (GRCm39) missense probably benign 0.01
R1491:Ncoa3 UTSW 2 165,897,182 (GRCm39) missense probably benign
R1721:Ncoa3 UTSW 2 165,911,221 (GRCm39) missense possibly damaging 0.55
R1895:Ncoa3 UTSW 2 165,901,097 (GRCm39) missense possibly damaging 0.68
R1896:Ncoa3 UTSW 2 165,890,384 (GRCm39) missense probably benign 0.36
R1946:Ncoa3 UTSW 2 165,901,097 (GRCm39) missense possibly damaging 0.68
R2406:Ncoa3 UTSW 2 165,897,279 (GRCm39) missense probably damaging 1.00
R3800:Ncoa3 UTSW 2 165,901,639 (GRCm39) missense possibly damaging 0.58
R3825:Ncoa3 UTSW 2 165,896,718 (GRCm39) missense possibly damaging 0.83
R4377:Ncoa3 UTSW 2 165,896,417 (GRCm39) missense possibly damaging 0.50
R4674:Ncoa3 UTSW 2 165,901,731 (GRCm39) missense probably benign
R4706:Ncoa3 UTSW 2 165,889,799 (GRCm39) missense probably damaging 1.00
R4751:Ncoa3 UTSW 2 165,911,823 (GRCm39) missense possibly damaging 0.81
R4954:Ncoa3 UTSW 2 165,907,706 (GRCm39) missense probably benign
R4976:Ncoa3 UTSW 2 165,889,820 (GRCm39) missense probably damaging 1.00
R4992:Ncoa3 UTSW 2 165,911,859 (GRCm39) missense probably benign 0.39
R5100:Ncoa3 UTSW 2 165,892,017 (GRCm39) missense probably damaging 1.00
R5578:Ncoa3 UTSW 2 165,896,248 (GRCm39) missense probably benign 0.00
R5932:Ncoa3 UTSW 2 165,912,045 (GRCm39) splice site probably null
R6370:Ncoa3 UTSW 2 165,907,825 (GRCm39) missense probably benign 0.00
R6372:Ncoa3 UTSW 2 165,901,267 (GRCm39) missense possibly damaging 0.94
R6373:Ncoa3 UTSW 2 165,901,267 (GRCm39) missense possibly damaging 0.94
R7438:Ncoa3 UTSW 2 165,910,449 (GRCm39) missense probably damaging 1.00
R7660:Ncoa3 UTSW 2 165,911,241 (GRCm39) missense probably benign 0.00
R7738:Ncoa3 UTSW 2 165,891,987 (GRCm39) missense probably damaging 1.00
R7752:Ncoa3 UTSW 2 165,907,688 (GRCm39) nonsense probably null
R7970:Ncoa3 UTSW 2 165,893,277 (GRCm39) missense probably benign 0.01
R8829:Ncoa3 UTSW 2 165,892,068 (GRCm39) missense probably damaging 1.00
R9133:Ncoa3 UTSW 2 165,910,381 (GRCm39) missense possibly damaging 0.92
R9625:Ncoa3 UTSW 2 165,899,130 (GRCm39) missense probably benign
X0018:Ncoa3 UTSW 2 165,896,722 (GRCm39) missense possibly damaging 0.58
Z1177:Ncoa3 UTSW 2 165,890,428 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCACTTTGGCCAACATACAG -3'
(R):5'- TGGTTCAATGGAAGGAGCAC -3'

Sequencing Primer
(F):5'- CACTTTGGCCAACATACAGACTTTTG -3'
(R):5'- GACATGACCTACCCATGT -3'
Posted On 2017-07-14