Incidental Mutation 'R9133:Ncoa3'
ID 693761
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 068930-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R9133 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 165834557-165915162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 165910381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1266 (T1266A)
Ref Sequence ENSEMBL: ENSMUSP00000085416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088095] [ENSMUST00000109249] [ENSMUST00000109252]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000088095
AA Change: T1266A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: T1266A

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: ENSMUST00000109249
SMART Domains Protein: ENSMUSP00000104872
Gene: ENSMUSG00000006800

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Sulfatase 44 375 2.8e-50 PFAM
low complexity region 512 523 N/A INTRINSIC
Pfam:DUF3740 532 670 1.3e-46 PFAM
low complexity region 702 720 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109252
AA Change: T1265A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: T1265A

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
Meta Mutation Damage Score 0.1001 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 T A 17: 13,159,176 (GRCm39) R4S probably benign Het
Adamdec1 A T 14: 68,814,547 (GRCm39) C143* probably null Het
Adck5 A G 15: 76,460,612 (GRCm39) probably benign Het
Aebp2 A G 6: 140,579,441 (GRCm39) D226G probably damaging Het
Ascc3 A G 10: 50,630,175 (GRCm39) I1755V possibly damaging Het
Aspm C T 1: 139,419,266 (GRCm39) T2977M probably damaging Het
Cacna1a A G 8: 85,276,152 (GRCm39) S582G probably damaging Het
Card14 T C 11: 119,231,835 (GRCm39) F801S probably damaging Het
Casp16 T A 17: 23,771,003 (GRCm39) D134V probably damaging Het
Cmya5 A G 13: 93,234,108 (GRCm39) S327P possibly damaging Het
Cutc A T 19: 43,755,727 (GRCm39) D229V possibly damaging Het
Cyp21a1 C A 17: 35,023,419 (GRCm39) probably benign Het
Dnah10 A G 5: 124,859,423 (GRCm39) K2130R probably damaging Het
Dsc1 C T 18: 20,234,904 (GRCm39) S250N probably benign Het
Edc4 T C 8: 106,611,778 (GRCm39) probably null Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Ehmt1 A T 2: 24,729,635 (GRCm39) I642K possibly damaging Het
Gjd2 T C 2: 113,842,039 (GRCm39) Q146R probably benign Het
Gm26661 A G 14: 7,791,936 (GRCm38) H117R unknown Het
H2-Oa T A 17: 34,313,505 (GRCm39) D185E probably damaging Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Hyal6 A G 6: 24,734,585 (GRCm39) R173G possibly damaging Het
Ica1 A T 6: 8,659,921 (GRCm39) V125D probably benign Het
Ift172 T C 5: 31,442,867 (GRCm39) T140A probably benign Het
Ighv9-4 T A 12: 114,263,883 (GRCm39) I17F probably benign Het
Igkv4-92 G T 6: 68,732,248 (GRCm39) T42N probably damaging Het
Kctd16 C A 18: 40,392,069 (GRCm39) P219Q probably damaging Het
Kdm5b A T 1: 134,530,323 (GRCm39) I445F probably benign Het
Ksr2 A G 5: 117,841,319 (GRCm39) T598A probably benign Het
Lrrn1 C T 6: 107,544,568 (GRCm39) T122I probably damaging Het
Mars2 A G 1: 55,276,721 (GRCm39) D108G possibly damaging Het
Ms4a14 A G 19: 11,281,038 (GRCm39) W507R Het
Neb T C 2: 52,083,256 (GRCm39) K5650E possibly damaging Het
Nlrp4f T A 13: 65,332,883 (GRCm39) K92* probably null Het
Nme4 G T 17: 26,314,389 (GRCm39) A13E probably benign Het
Nova1 G T 12: 46,865,524 (GRCm39) A4E unknown Het
Nphs1 G T 7: 30,160,092 (GRCm39) E124* probably null Het
Or10d4 T A 9: 39,580,974 (GRCm39) I207N possibly damaging Het
Or10d4b T A 9: 39,534,809 (GRCm39) L128* probably null Het
Or5d14 T C 2: 87,880,782 (GRCm39) Y62C probably damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Ranbp2 T C 10: 58,313,050 (GRCm39) S1257P probably damaging Het
Ranbp3 T C 17: 57,003,791 (GRCm39) probably null Het
Rasgrf1 A G 9: 89,793,600 (GRCm39) T126A probably benign Het
Rexo5 T G 7: 119,444,667 (GRCm39) L714R probably damaging Het
Rhobtb3 A G 13: 76,020,512 (GRCm39) Y597H probably damaging Het
Riox1 C G 12: 83,998,221 (GRCm39) Y252* probably null Het
Sh2d3c T C 2: 32,634,778 (GRCm39) Y186H possibly damaging Het
Slc16a7 T A 10: 125,066,536 (GRCm39) T368S probably benign Het
Slc25a26 G A 6: 94,511,143 (GRCm39) V107I Het
Slc4a5 A T 6: 83,203,217 (GRCm39) Y39F possibly damaging Het
Smarcad1 A G 6: 65,049,035 (GRCm39) K254E probably damaging Het
Sspo G T 6: 48,434,747 (GRCm39) V1080L possibly damaging Het
Thsd7b A T 1: 129,843,382 (GRCm39) T865S probably benign Het
Top1 C T 2: 160,545,591 (GRCm39) Q320* probably null Het
Trank1 T A 9: 111,220,770 (GRCm39) N2502K possibly damaging Het
Urad T C 5: 147,252,251 (GRCm39) H67R probably damaging Het
Vamp5 A C 6: 72,357,362 (GRCm39) probably null Het
Vmn1r62 A G 7: 5,679,062 (GRCm39) I248V probably benign Het
Wwc2 G T 8: 48,305,007 (GRCm39) Q873K unknown Het
Zcchc2 C A 1: 105,958,535 (GRCm39) S1002Y probably damaging Het
Zdhhc14 G A 17: 5,803,283 (GRCm39) R462H probably benign Het
Zfp788 A G 7: 41,299,484 (GRCm39) N707D Het
Zfp964 A G 8: 70,115,783 (GRCm39) T128A probably benign Het
Zkscan16 T C 4: 58,957,722 (GRCm39) L668S possibly 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
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
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'- ACCCTTTAGTTACAGAGAGGGC -3'
(R):5'- TCCTGGCAAACAAGATGGAG -3'

Sequencing Primer
(F):5'- CCATAGCTGGTGTATTGTGAGATGC -3'
(R):5'- AGTGAGCGGTACTTTTGTTTTCACAC -3'
Posted On 2022-01-20