Incidental Mutation 'R4954:Ncoa3'
ID 381458
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 042551-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R4954 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 165834557-165915162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 165907706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1105 (V1105A)
Ref Sequence ENSEMBL: ENSMUSP00000104875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088095] [ENSMUST00000109252]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000088095
AA Change: V1105A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: V1105A

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 benign
Transcript: ENSMUST00000109252
AA Change: V1105A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: V1105A

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: ENSMUST00000139394
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139658
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (66/66)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,875,169 (GRCm39) H668Y probably benign Het
Alk C T 17: 72,209,687 (GRCm39) W919* probably null Het
Aoc3 G A 11: 101,222,925 (GRCm39) G387D probably damaging Het
Arhgap26 T A 18: 39,376,694 (GRCm39) C441S probably benign Het
Arhgap28 C A 17: 68,176,008 (GRCm39) E100* probably null Het
Ate1 C T 7: 130,110,748 (GRCm39) G186D probably benign Het
Birc6 T A 17: 74,919,026 (GRCm39) L1948H probably damaging Het
Bmp2k C T 5: 97,234,623 (GRCm39) probably benign Het
Ccin A T 4: 43,985,077 (GRCm39) I495F probably benign Het
Cir1 T A 2: 73,140,848 (GRCm39) E40D probably benign Het
Cyp3a57 A T 5: 145,307,765 (GRCm39) probably null Het
Dennd1b A G 1: 138,981,124 (GRCm39) T113A probably damaging Het
Dnah2 G A 11: 69,430,322 (GRCm39) P79S possibly damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Dync2i1 T C 12: 116,219,645 (GRCm39) D99G probably damaging Het
Enpep A T 3: 129,077,829 (GRCm39) I596N probably damaging Het
Eps15 G A 4: 109,227,875 (GRCm39) probably null Het
Ext1 T C 15: 53,207,888 (GRCm39) D291G probably damaging Het
Gm12883 T C 4: 121,252,198 (GRCm39) noncoding transcript Het
Gm9921 A G 12: 45,484,383 (GRCm39) noncoding transcript Het
H2-T22 C A 17: 36,352,851 (GRCm39) W85C probably damaging Het
Heatr1 G A 13: 12,422,397 (GRCm39) probably null Het
Hspa4l T A 3: 40,739,832 (GRCm39) probably null Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Kpna1 T C 16: 35,853,696 (GRCm39) V442A probably damaging Het
Mogat2 T C 7: 98,887,724 (GRCm39) T17A possibly damaging Het
Musk C T 4: 58,344,222 (GRCm39) T285I probably damaging Het
Myorg G A 4: 41,498,241 (GRCm39) A463V possibly damaging Het
Nbea T G 3: 55,943,379 (GRCm39) Q632P probably damaging Het
Neb T C 2: 52,067,530 (GRCm39) probably null Het
Nlrp4e A T 7: 23,061,318 (GRCm39) K970* probably null Het
Oog2 A T 4: 143,917,302 (GRCm39) probably benign Het
Or13g1 T C 7: 85,955,809 (GRCm39) I171V probably benign Het
Or2a57 A G 6: 43,213,318 (GRCm39) M259V probably benign Het
Or52a24 A G 7: 103,381,414 (GRCm39) I94V probably damaging Het
Otos T C 1: 92,572,167 (GRCm39) Y53C probably damaging Het
Oxct2a A T 4: 123,216,252 (GRCm39) C376* probably null Het
Pate12 A T 9: 36,344,156 (GRCm39) K46N probably benign Het
Phf14 C A 6: 11,987,619 (GRCm39) Q633K probably benign Het
Pkdrej T A 15: 85,700,602 (GRCm39) N1778I probably damaging Het
Psmc3 C T 2: 90,885,974 (GRCm39) probably benign Het
Rbm33 A T 5: 28,544,274 (GRCm39) I177F probably damaging Het
Rps6ka2 A G 17: 7,539,003 (GRCm39) D307G probably benign Het
Rps6ka2 G A 17: 7,566,685 (GRCm39) V648I probably benign Het
Scn11a C T 9: 119,587,725 (GRCm39) V1340M possibly damaging Het
Sema7a T C 9: 57,863,663 (GRCm39) W279R probably damaging Het
Slc2a10 A T 2: 165,356,675 (GRCm39) I112F probably damaging Het
Stk4 C A 2: 163,993,601 (GRCm39) S77R possibly damaging Het
Stk4 T A 2: 163,993,602 (GRCm39) W78R probably damaging Het
Syf2 T A 4: 134,662,283 (GRCm39) L99* probably null Het
Tas2r104 A T 6: 131,661,968 (GRCm39) I247K probably damaging Het
Usp15 G T 10: 122,967,303 (GRCm39) R368S probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r2 T A 3: 64,047,905 (GRCm39) L20F probably benign Het
Zcchc4 A T 5: 52,976,559 (GRCm39) H451L probably damaging 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
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
R6051:Ncoa3 UTSW 2 165,900,685 (GRCm39) missense probably damaging 1.00
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'- GAGACTTGGTTGTCCCATTCTAC -3'
(R):5'- AGAGGAAAGCTGCCTTGCTG -3'

Sequencing Primer
(F):5'- GGTTGTCCCATTCTACAGACATGAG -3'
(R):5'- GCTGGCTAATCTGACCCATCATAGAG -3'
Posted On 2016-04-27