Incidental Mutation 'R1434:Ncoa3'
ID 159361
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 039489-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R1434 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 165834557-165915162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 165897430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 740 (D740E)
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: D740E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: D740E

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: D740E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: D740E

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: ENSMUST00000153507
Meta Mutation Damage Score 0.1086 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency 99% (73/74)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,348,959 (GRCm39) H851N probably benign Het
Adamtsl4 T C 3: 95,588,094 (GRCm39) Y631C probably damaging Het
Ankhd1 A G 18: 36,758,212 (GRCm39) I969V probably benign Het
Apob A G 12: 8,059,715 (GRCm39) I2699M probably damaging Het
Aqr A T 2: 113,980,890 (GRCm39) L297Q probably damaging Het
Arb2a A T 13: 77,910,041 (GRCm39) Y98F probably damaging Het
Camsap1 A G 2: 25,835,190 (GRCm39) Y301H probably damaging Het
Ccdc88c A G 12: 100,905,425 (GRCm39) probably benign Het
Cd209b T A 8: 3,973,367 (GRCm39) I106F possibly damaging Het
Cdkn1b T A 6: 134,898,060 (GRCm39) W60R probably damaging Het
Coasy A G 11: 100,975,822 (GRCm39) probably benign Het
Col2a1 T A 15: 97,877,532 (GRCm39) Q1017L probably damaging Het
Cspg4b G A 13: 113,505,026 (GRCm39) V510I possibly damaging Het
Ctnnal1 T A 4: 56,847,971 (GRCm39) N56I probably damaging Het
Cyb561d2 T A 9: 107,418,842 (GRCm39) probably benign Het
Dcst1 G T 3: 89,259,826 (GRCm39) T632N probably damaging Het
Ddx1 C T 12: 13,287,232 (GRCm39) V267I probably benign Het
Dnah10 A T 5: 124,852,050 (GRCm39) M1736L probably benign Het
Eln G A 5: 134,758,291 (GRCm39) probably benign Het
Elp1 T A 4: 56,781,193 (GRCm39) E493D probably benign Het
Enpp2 A T 15: 54,726,077 (GRCm39) D566E probably damaging Het
Ezh1 T C 11: 101,085,743 (GRCm39) K638R probably damaging Het
Fdx2 C A 9: 20,984,694 (GRCm39) G37W probably benign Het
Grin2b T C 6: 135,820,193 (GRCm39) I340V probably benign Het
Il16 T C 7: 83,304,520 (GRCm39) T671A probably benign Het
Kcnd2 T A 6: 21,216,356 (GRCm39) M20K probably damaging Het
Kndc1 C T 7: 139,502,600 (GRCm39) S962F probably damaging Het
L1td1 A G 4: 98,626,054 (GRCm39) S750G possibly damaging Het
Lama2 A G 10: 27,084,366 (GRCm39) C935R probably damaging Het
Lgalsl T C 11: 20,776,418 (GRCm39) D158G possibly damaging Het
Lman1 A T 18: 66,126,144 (GRCm39) probably null Het
Lmtk2 A G 5: 144,111,407 (GRCm39) E709G probably damaging Het
Lrfn3 T C 7: 30,055,352 (GRCm39) H531R possibly damaging Het
Mark3 A G 12: 111,589,759 (GRCm39) probably benign Het
Mov10 T C 3: 104,702,490 (GRCm39) E997G probably damaging Het
Myo15a T A 11: 60,395,157 (GRCm39) W2484R probably benign Het
Myo1g G T 11: 6,459,372 (GRCm39) Q833K probably benign Het
Nol12 A G 15: 78,822,153 (GRCm39) probably benign Het
Nrxn2 T A 19: 6,493,642 (GRCm39) probably null Het
Nsfl1c A C 2: 151,342,666 (GRCm39) I79L probably benign Het
Or52b2 T C 7: 104,986,468 (GRCm39) I152V probably benign Het
Or5b108 A G 19: 13,168,662 (GRCm39) I210M probably benign Het
Or5k1 G T 16: 58,617,811 (GRCm39) H133N probably benign Het
Osbpl8 A C 10: 111,127,442 (GRCm39) E842A probably benign Het
Pdxk G T 10: 78,276,645 (GRCm39) T310K probably benign Het
Phip T G 9: 82,841,658 (GRCm39) K54Q probably damaging Het
Pklr A T 3: 89,050,342 (GRCm39) D366V probably damaging Het
Plxna2 T A 1: 194,433,848 (GRCm39) probably benign Het
Ppp4r3a A T 12: 101,009,783 (GRCm39) V618E probably damaging Het
Prdm12 A T 2: 31,530,319 (GRCm39) Q70L possibly damaging Het
Ptgr3 A G 18: 84,112,596 (GRCm39) K91E probably benign Het
Ptpn21 A T 12: 98,654,849 (GRCm39) M706K probably damaging Het
Ptprq A T 10: 107,422,575 (GRCm39) F1606I probably damaging Het
Rasgrp4 T C 7: 28,837,152 (GRCm39) probably null Het
Rlbp1 C A 7: 79,029,661 (GRCm39) probably null Het
Rtp2 T C 16: 23,746,193 (GRCm39) D166G probably benign Het
Ryr3 A C 2: 112,475,604 (GRCm39) F4481V probably damaging Het
Scn2a A G 2: 65,532,335 (GRCm39) D649G possibly damaging Het
Slc30a5 T A 13: 100,939,950 (GRCm39) D655V probably damaging Het
Slco5a1 G A 1: 12,942,132 (GRCm39) A838V probably benign Het
Spata6l G T 19: 28,905,039 (GRCm39) probably benign Het
Srprb A G 9: 103,067,501 (GRCm39) V239A probably damaging Het
Tceanc2 T C 4: 107,004,837 (GRCm39) T104A probably benign Het
Tcp1 T C 17: 13,141,493 (GRCm39) probably null Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr19 G A 5: 65,380,847 (GRCm39) probably benign Het
Zfhx4 T A 3: 5,306,919 (GRCm39) H48Q probably benign Het
Zfp787 T A 7: 6,135,234 (GRCm39) H339L probably damaging Het
Zfp839 G T 12: 110,827,333 (GRCm39) R408L probably benign 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
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
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'- GGACAGTGTCTTCCACCTCCAATG -3'
(R):5'- AGGGCTGGAACAGAGAGTACCTTAC -3'

Sequencing Primer
(F):5'- CACCGGATTTTGCACAAGTTG -3'
(R):5'- AGAGAGTACCTTACCTCCTCG -3'
Posted On 2014-03-14