Incidental Mutation 'R3825:Ncoa3'
ID 275320
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 040774-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R3825 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 165834557-165915162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 165896718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 503 (G503V)
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: G503V

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085416
Gene: ENSMUSG00000027678
AA Change: G503V

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: G503V

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104875
Gene: ENSMUSG00000027678
AA Change: G503V

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 0.0797 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (63/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A G 11: 117,693,739 (GRCm39) K69E probably damaging Het
Abcb5 C T 12: 118,865,087 (GRCm39) probably null Het
Acot1 G T 12: 84,061,194 (GRCm39) G167* probably null Het
Agbl1 C T 7: 76,069,715 (GRCm39) H164Y probably damaging Het
Atp4b T C 8: 13,443,549 (GRCm39) Y43C probably damaging Het
Bsn T C 9: 107,984,055 (GRCm39) D3333G unknown Het
Ccdc27 A C 4: 154,120,742 (GRCm39) D351E unknown Het
Cd200r4 T C 16: 44,641,313 (GRCm39) F19L probably benign Het
Dbndd1 T A 8: 124,236,731 (GRCm39) I75F probably damaging Het
Dennd5b T C 6: 148,946,334 (GRCm39) K426E probably benign Het
Drg2 A G 11: 60,350,334 (GRCm39) T98A possibly damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fmo1 T C 1: 162,678,916 (GRCm39) probably benign Het
Foxn2 A T 17: 88,791,837 (GRCm39) I236F probably damaging Het
Glmp G A 3: 88,233,718 (GRCm39) V107I probably damaging Het
Gpr15 A G 16: 58,538,723 (GRCm39) F122S probably damaging Het
Gvin-ps3 T C 7: 105,682,780 (GRCm39) I158M possibly damaging Het
Hmcn1 A T 1: 150,462,716 (GRCm39) D5140E probably benign Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Igfbp4 A G 11: 98,939,061 (GRCm39) E27G probably damaging Het
Il7 A G 3: 7,642,226 (GRCm39) probably benign Het
Kat6a G T 8: 23,352,380 (GRCm39) V55F probably damaging Het
Kynu A G 2: 43,571,451 (GRCm39) T456A probably benign Het
Lcorl A G 5: 45,932,729 (GRCm39) probably benign Het
Lrp5 G A 19: 3,655,290 (GRCm39) R1077* probably null Het
Mab21l2 T C 3: 86,454,211 (GRCm39) E263G possibly damaging Het
Macf1 T A 4: 123,338,744 (GRCm39) D1436V probably benign Het
Map4k2 C A 19: 6,394,081 (GRCm39) T252N probably benign Het
Mterf2 A T 10: 84,956,147 (GRCm39) L159Q probably damaging Het
Muc5ac C A 7: 141,368,460 (GRCm39) T3063K possibly damaging Het
Myo18a T A 11: 77,668,292 (GRCm39) S51T possibly damaging Het
Ncor1 A T 11: 62,264,183 (GRCm39) H406Q probably benign Het
Nectin2 T C 7: 19,458,510 (GRCm39) K434E possibly damaging Het
Nipal2 A T 15: 34,578,852 (GRCm39) probably null Het
Nub1 G C 5: 24,912,851 (GRCm39) S517T probably benign Het
Or10a4 T C 7: 106,696,816 (GRCm39) L48P possibly damaging Het
Or4d10c A G 19: 12,065,391 (GRCm39) V255A probably damaging Het
Or8b101 A T 9: 38,020,134 (GRCm39) I51F possibly damaging Het
Or8c17 T G 9: 38,179,814 (GRCm39) S2A probably benign Het
Plscr3 G A 11: 69,740,964 (GRCm39) V267M probably benign Het
Plxnb2 G T 15: 89,050,602 (GRCm39) N451K probably benign Het
Ppp2r2a A G 14: 67,259,892 (GRCm39) L268P probably damaging Het
Ptprb A T 10: 116,186,694 (GRCm39) I1743F probably benign Het
Rack1 A G 11: 48,693,131 (GRCm39) T105A probably benign Het
Rhot1 G A 11: 80,116,907 (GRCm39) V94I probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Smc6 T A 12: 11,351,517 (GRCm39) probably benign Het
Spink8 T A 9: 109,645,861 (GRCm39) V11D probably damaging Het
Ss18l1 A T 2: 179,705,103 (GRCm39) Q365L unknown Het
Tbc1d31 T A 15: 57,779,474 (GRCm39) H62Q probably benign Het
Tbc1d9b T C 11: 50,061,954 (GRCm39) V1171A possibly damaging Het
Tln1 G A 4: 43,536,413 (GRCm39) probably benign Het
Tmem220 G A 11: 66,916,077 (GRCm39) A25T possibly damaging Het
Tmem259 T C 10: 79,814,282 (GRCm39) N334S possibly damaging Het
Tmod3 A T 9: 75,414,809 (GRCm39) probably benign Het
Tmprss2 A T 16: 97,398,021 (GRCm39) Y52N probably damaging Het
Tsga10 A T 1: 37,873,278 (GRCm39) N200K possibly damaging Het
Ube2frt T C 12: 36,141,036 (GRCm39) probably benign Het
Vmn1r189 T A 13: 22,286,382 (GRCm39) T152S probably benign Het
Vmn2r76 C T 7: 85,880,415 (GRCm39) M90I probably benign Het
Zfr C T 15: 12,166,277 (GRCm39) A849V probably damaging Het
Znhit6 T C 3: 145,284,099 (GRCm39) M95T 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
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
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'- ATCGTGGCAGCCCAAAGATG -3'
(R):5'- CACTGAACTCTCCACTGGATTCTG -3'

Sequencing Primer
(F):5'- AGATGGCCTCCCACCAGTTC -3'
(R):5'- CTGTTCACAGTATAAGCCTAGGG -3'
Posted On 2015-04-02