Incidental Mutation 'R1946:Ncoa3'
ID 216651
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 039964-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R1946 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 165834557-165915162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 165901097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 896 (N896K)
Ref Sequence ENSEMBL: ENSMUSP00000104875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088095] [ENSMUST00000109252]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000088095
AA Change: N896K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: N896K

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 possibly damaging
Transcript: ENSMUST00000109252
AA Change: N896K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: N896K

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
Meta Mutation Damage Score 0.0671 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,039,551 (GRCm39) S253P probably damaging Het
Adamts5 C A 16: 85,696,131 (GRCm39) C342F probably damaging Het
Adgrv1 C T 13: 81,522,368 (GRCm39) C5923Y probably damaging Het
Aen G C 7: 78,552,420 (GRCm39) E32Q probably damaging Het
Apba2 T C 7: 64,394,378 (GRCm39) probably null Het
Arhgap44 A G 11: 64,902,922 (GRCm39) M509T probably damaging Het
Arpc1b A G 5: 145,059,443 (GRCm39) T56A probably null Het
Atoh1 T C 6: 64,706,443 (GRCm39) V46A probably benign Het
Bmpr2 T C 1: 59,907,556 (GRCm39) V883A possibly damaging Het
Bpifa1 A T 2: 153,987,554 (GRCm39) I135F probably damaging Het
Bsn A G 9: 107,991,850 (GRCm39) F1301L probably damaging Het
Capn13 T C 17: 73,657,520 (GRCm39) E240G possibly damaging Het
Ccdc18 A G 5: 108,376,861 (GRCm39) E1434G probably damaging Het
Coq8b G A 7: 26,939,299 (GRCm39) V150I possibly damaging Het
Cpn1 G A 19: 43,944,957 (GRCm39) T450M probably benign Het
Dlg4 A G 11: 69,930,401 (GRCm39) Y432C probably damaging Het
Dnah8 C A 17: 30,931,359 (GRCm39) T1458K probably benign Het
Dock5 A T 14: 68,023,765 (GRCm39) M1132K probably damaging Het
Dsg2 A G 18: 20,713,605 (GRCm39) D192G probably damaging Het
F930017D23Rik G A 10: 43,469,440 (GRCm39) noncoding transcript Het
Fndc11 A T 2: 180,863,627 (GRCm39) D144V probably benign Het
Fut2 A G 7: 45,300,748 (GRCm39) F8S probably damaging Het
Gad2 A T 2: 22,575,440 (GRCm39) T515S probably benign Het
Ganab T A 19: 8,888,172 (GRCm39) D439E probably damaging Het
Gm10228 C A 16: 88,838,241 (GRCm39) G21V unknown Het
Grm3 A G 5: 9,562,123 (GRCm39) W576R probably damaging Het
Gsdmc4 C A 15: 63,774,629 (GRCm39) D51Y probably benign Het
Hmcn2 T C 2: 31,295,647 (GRCm39) S2619P probably damaging Het
Kcnq2 T A 2: 180,730,244 (GRCm39) D446V probably benign Het
Kera A G 10: 97,445,009 (GRCm39) K123E probably benign Het
Kmt2c A T 5: 25,520,152 (GRCm39) V1986E probably benign Het
Lrp11 T C 10: 7,499,540 (GRCm39) Y244H probably damaging Het
Lrp1b T A 2: 40,555,159 (GRCm39) D320V unknown Het
Lrrcc1 A G 3: 14,615,453 (GRCm39) R394G probably benign Het
Lrrk2 G A 15: 91,620,864 (GRCm39) probably null Het
Map4k5 A T 12: 69,892,529 (GRCm39) D133E probably damaging Het
Megf11 A T 9: 64,586,558 (GRCm39) D461V probably damaging Het
Msrb3 A G 10: 120,687,913 (GRCm39) V54A probably damaging Het
Muc21 A T 17: 35,933,416 (GRCm39) probably benign Het
Ncor2 G A 5: 125,111,476 (GRCm39) T1314I probably damaging Het
Nes A G 3: 87,885,821 (GRCm39) Q1316R possibly damaging Het
Nfe2l3 A C 6: 51,434,295 (GRCm39) Q285P probably damaging Het
Nkd1 C T 8: 89,318,745 (GRCm39) H357Y probably damaging Het
Nmt2 T A 2: 3,323,672 (GRCm39) I355N probably benign Het
Or10ak11 T C 4: 118,687,223 (GRCm39) N139S probably benign Het
Or1n1b A T 2: 36,780,458 (GRCm39) M134K possibly damaging Het
Or5ae1 T C 7: 84,565,487 (GRCm39) S167P probably benign Het
Or5b3 T C 19: 13,388,143 (GRCm39) V70A possibly damaging Het
Or7a38 T A 10: 78,752,758 (GRCm39) I28N probably damaging Het
Or8b3 T A 9: 38,314,182 (GRCm39) M1K probably null Het
Otx1 G T 11: 21,948,482 (GRCm39) T46K probably damaging Het
Panx1 A G 9: 14,918,822 (GRCm39) C346R probably benign Het
Pcdhb16 T A 18: 37,611,952 (GRCm39) L304* probably null Het
Plet1 A G 9: 50,415,652 (GRCm39) probably null Het
Plod2 A G 9: 92,489,188 (GRCm39) S707G probably damaging Het
Plscr4 G A 9: 92,365,889 (GRCm39) V120I probably damaging Het
Ppp1r12b A G 1: 134,820,008 (GRCm39) V245A probably damaging Het
Ppp2r2d A G 7: 138,470,196 (GRCm39) D19G probably damaging Het
Pramel31 T A 4: 144,088,435 (GRCm39) V77E probably benign Het
Rimbp3 G A 16: 17,028,291 (GRCm39) V572I probably benign Het
Ror2 T C 13: 53,285,885 (GRCm39) I110V probably damaging Het
Sec24d A T 3: 123,147,043 (GRCm39) H667L probably benign Het
Sema3d A G 5: 12,623,810 (GRCm39) Q573R probably damaging Het
Snx19 T A 9: 30,343,620 (GRCm39) N593K probably damaging Het
Sulf1 T C 1: 12,867,131 (GRCm39) V105A probably benign Het
Syngr3 T C 17: 24,906,680 (GRCm39) N45S probably benign Het
Tenm4 A T 7: 96,385,015 (GRCm39) H524L probably damaging Het
Tex30 C T 1: 44,130,564 (GRCm39) G68D probably damaging Het
Tmem43 A T 6: 91,463,891 (GRCm39) I389F probably benign Het
Trpm1 A T 7: 63,873,556 (GRCm39) N488Y probably damaging Het
Usf2 T C 7: 30,655,663 (GRCm39) T1A probably null Het
Vill A T 9: 118,887,560 (GRCm39) H108L probably benign Het
Vmn1r16 T C 6: 57,299,885 (GRCm39) I246V probably benign Het
Vmn1r188 T G 13: 22,272,815 (GRCm39) S256R possibly damaging Het
Zfp12 G A 5: 143,231,133 (GRCm39) E487K probably damaging Het
Zfp24 AC A 18: 24,147,476 (GRCm39) 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
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'- ATCCCGTTGGTTCAGAACACC -3'
(R):5'- CACCTGGCAGTCGATTAGAACG -3'

Sequencing Primer
(F):5'- GTTGGTTCAGAACACCTTTCTAAC -3'
(R):5'- CTGGCAGTCGATTAGAACGAAGTG -3'
Posted On 2014-08-01