Incidental Mutation 'R9497:Ncoa6'
ID 717261
Institutional Source Beutler Lab
Gene Symbol Ncoa6
Ensembl Gene ENSMUSG00000038369
Gene Name nuclear receptor coactivator 6
Synonyms ASC-2, RAP250, NRC, AIB3, ASC2, PRIP
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9497 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 155232585-155315741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155248238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1689 (T1689A)
Ref Sequence ENSEMBL: ENSMUSP00000045386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043126] [ENSMUST00000109670] [ENSMUST00000123293]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043126
AA Change: T1689A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369
AA Change: T1689A

DomainStartEndE-ValueType
Pfam:Nucleic_acid_bd 47 190 3.3e-55 PFAM
coiled coil region 256 296 N/A INTRINSIC
low complexity region 375 383 N/A INTRINSIC
internal_repeat_1 450 597 3.31e-5 PROSPERO
low complexity region 615 630 N/A INTRINSIC
internal_repeat_1 636 793 3.31e-5 PROSPERO
low complexity region 844 860 N/A INTRINSIC
low complexity region 909 931 N/A INTRINSIC
low complexity region 986 998 N/A INTRINSIC
low complexity region 1002 1046 N/A INTRINSIC
low complexity region 1126 1139 N/A INTRINSIC
low complexity region 1258 1273 N/A INTRINSIC
low complexity region 1328 1351 N/A INTRINSIC
low complexity region 1543 1564 N/A INTRINSIC
low complexity region 1578 1599 N/A INTRINSIC
low complexity region 1607 1618 N/A INTRINSIC
low complexity region 1808 1825 N/A INTRINSIC
low complexity region 1894 1908 N/A INTRINSIC
low complexity region 2043 2053 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109670
AA Change: T1689A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369
AA Change: T1689A

DomainStartEndE-ValueType
Pfam:Nucleic_acid_bd 45 195 3.6e-60 PFAM
coiled coil region 256 296 N/A INTRINSIC
low complexity region 375 383 N/A INTRINSIC
internal_repeat_1 450 597 3.31e-5 PROSPERO
low complexity region 615 630 N/A INTRINSIC
internal_repeat_1 636 793 3.31e-5 PROSPERO
low complexity region 844 860 N/A INTRINSIC
low complexity region 909 931 N/A INTRINSIC
low complexity region 986 998 N/A INTRINSIC
low complexity region 1002 1046 N/A INTRINSIC
low complexity region 1126 1139 N/A INTRINSIC
low complexity region 1258 1273 N/A INTRINSIC
low complexity region 1328 1351 N/A INTRINSIC
low complexity region 1543 1564 N/A INTRINSIC
low complexity region 1578 1599 N/A INTRINSIC
low complexity region 1607 1618 N/A INTRINSIC
low complexity region 1808 1825 N/A INTRINSIC
low complexity region 1894 1908 N/A INTRINSIC
low complexity region 2043 2053 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123293
SMART Domains Protein: ENSMUSP00000118113
Gene: ENSMUSG00000038369

DomainStartEndE-ValueType
Pfam:Nucleic_acid_bd 45 195 2.4e-60 PFAM
coiled coil region 256 296 N/A INTRINSIC
low complexity region 375 383 N/A INTRINSIC
low complexity region 564 573 N/A INTRINSIC
low complexity region 615 630 N/A INTRINSIC
low complexity region 844 860 N/A INTRINSIC
low complexity region 909 931 N/A INTRINSIC
low complexity region 986 998 N/A INTRINSIC
low complexity region 1002 1046 N/A INTRINSIC
low complexity region 1126 1139 N/A INTRINSIC
low complexity region 1258 1273 N/A INTRINSIC
low complexity region 1328 1351 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit retarded embryonic growth and defects of the placenta, heart, liver, and nervous system. Mutants die around midgestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik A C 1: 85,973,893 (GRCm39) E70A possibly damaging Het
Abcb5 C A 12: 118,899,850 (GRCm39) Q272H probably damaging Het
Acoxl T C 2: 127,719,706 (GRCm39) Y156H probably damaging Het
Alg9 T C 9: 50,711,436 (GRCm39) F305L probably damaging Het
Apobec4 T C 1: 152,632,947 (GRCm39) V325A probably benign Het
Aqp9 T G 9: 71,069,651 (GRCm39) D46A probably benign Het
Atp13a4 T A 16: 29,288,130 (GRCm39) probably null Het
BC051019 A G 7: 109,315,466 (GRCm39) F263S probably damaging Het
Bicc1 A T 10: 70,776,828 (GRCm39) probably null Het
Birc2 G A 9: 7,861,028 (GRCm39) Q97* probably null Het
Capn13 G T 17: 73,633,362 (GRCm39) T533N probably benign Het
Casp6 G A 3: 129,699,559 (GRCm39) V13M probably benign Het
Cdh10 A T 15: 18,964,267 (GRCm39) E143V probably damaging Het
Cobl T A 11: 12,203,501 (GRCm39) Q1067L probably benign Het
Cr2 A G 1: 194,850,743 (GRCm39) V241A probably damaging Het
Cyp2c23 C T 19: 44,010,085 (GRCm39) V87M probably damaging Het
Cyp2j9 G A 4: 96,460,211 (GRCm39) Q431* probably null Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Cyp4a12b A T 4: 115,271,768 (GRCm39) M160L probably benign Het
Ddhd2 T A 8: 26,217,731 (GRCm39) K715N possibly damaging Het
Ecscr T C 18: 35,851,436 (GRCm39) Y32C probably damaging Het
Ednra A T 8: 78,446,934 (GRCm39) L48Q probably benign Het
Eya4 C T 10: 22,987,458 (GRCm39) probably null Het
F13a1 C A 13: 37,082,118 (GRCm39) V529L probably benign Het
Fam151b A T 13: 92,610,621 (GRCm39) I56K probably damaging Het
Fat3 A G 9: 15,903,504 (GRCm39) I2997T probably damaging Het
Fgfr2 A T 7: 129,765,763 (GRCm39) F817I probably damaging Het
Fras1 G T 5: 96,884,895 (GRCm39) C2591F probably damaging Het
Fryl T C 5: 73,215,134 (GRCm39) D2214G Het
Galntl6 A T 8: 58,290,410 (GRCm39) D394E probably damaging Het
Ggcx C A 6: 72,406,190 (GRCm39) N605K probably damaging Het
Gja5 A G 3: 96,958,801 (GRCm39) N286S Het
Gm4553 A T 7: 141,719,298 (GRCm39) C43* probably null Het
Gpr158 T C 2: 21,831,825 (GRCm39) V975A probably benign Het
Greb1l T A 18: 10,458,600 (GRCm39) D60E probably benign Het
Hao2 A T 3: 98,784,462 (GRCm39) L301H probably damaging Het
Hic1 A G 11: 75,060,131 (GRCm39) L72P possibly damaging Het
Hs3st5 A C 10: 36,709,370 (GRCm39) N302H probably benign Het
Htr1d A G 4: 136,169,663 (GRCm39) probably benign Het
Inka1 A G 9: 107,861,938 (GRCm39) V128A probably benign Het
Kdm7a T C 6: 39,128,253 (GRCm39) D526G probably damaging Het
Kif5a T C 10: 127,079,353 (GRCm39) S282G probably damaging Het
Klhdc7b T C 15: 89,272,463 (GRCm39) V457A possibly damaging Het
Lcorl A G 5: 45,891,339 (GRCm39) V421A probably benign Het
Ltc4s A G 11: 50,127,386 (GRCm39) S150P unknown Het
Mdfic C T 6: 15,720,852 (GRCm39) R18W unknown Het
Mdfic T G 6: 15,770,508 (GRCm39) D171E probably benign Het
Meis2 T C 2: 115,694,724 (GRCm39) D473G possibly damaging Het
Mettl17 A T 14: 52,129,029 (GRCm39) Q433L unknown Het
Mettl25 T C 10: 105,677,090 (GRCm39) R31G probably damaging Het
Mroh2b T A 15: 4,950,845 (GRCm39) I581N probably damaging Het
Myh7 A T 14: 55,217,841 (GRCm39) N1091K probably benign Het
Mysm1 T C 4: 94,848,635 (GRCm39) D466G probably benign Het
Ndfip2 A G 14: 105,542,245 (GRCm39) T332A probably benign Het
Nfkbil1 G A 17: 35,439,605 (GRCm39) P303S probably damaging Het
Nfx1 T G 4: 40,994,104 (GRCm39) N604K probably benign Het
Npb T C 11: 120,499,473 (GRCm39) F47L probably benign Het
Nr2c2 C T 6: 92,133,673 (GRCm39) T259I possibly damaging Het
Nt5el G T 13: 105,236,987 (GRCm39) L79F probably damaging Het
Obsl1 C T 1: 75,467,484 (GRCm39) C1430Y probably damaging Het
Or10al5 T A 17: 38,062,942 (GRCm39) Y66N probably damaging Het
Or10b1 A G 10: 78,355,738 (GRCm39) I99V probably benign Het
Or10g6 A T 9: 39,934,616 (GRCm39) H309L probably benign Het
Or4d5 G A 9: 40,011,935 (GRCm39) P284S probably damaging Het
Or4n4b C T 14: 50,536,362 (GRCm39) V135I probably benign Het
Or6c202 C A 10: 128,996,464 (GRCm39) V130L probably benign Het
Or6f1 G A 7: 85,970,989 (GRCm39) T57M probably damaging Het
Pdcd6 A T 13: 74,453,695 (GRCm39) F148I probably damaging Het
Pih1d1 A T 7: 44,803,789 (GRCm39) Q16L unknown Het
Ppp1r10 T C 17: 36,235,786 (GRCm39) S123P probably damaging Het
Ppp1r13b A T 12: 111,807,446 (GRCm39) M305K probably benign Het
Prg2 A G 2: 84,811,685 (GRCm39) K2E possibly damaging Het
Prkd1 A T 12: 50,438,107 (GRCm39) probably null Het
Rfx7 T A 9: 72,526,423 (GRCm39) H1204Q probably benign Het
Serpina3k A C 12: 104,309,430 (GRCm39) Q291H probably benign Het
Tafa4 T A 6: 96,820,831 (GRCm39) I93F possibly damaging Het
Tas2r107 G T 6: 131,636,549 (GRCm39) Q167K probably benign Het
Tle1 A C 4: 72,071,135 (GRCm39) probably benign Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Trpa1 C T 1: 14,989,026 (GRCm39) E12K probably benign Het
Vmn2r7 T C 3: 64,614,474 (GRCm39) T447A probably benign Het
Wdr86 T C 5: 24,920,538 (GRCm39) Y283C probably benign Het
Zfp329 A T 7: 12,544,215 (GRCm39) Y436* probably null Het
Other mutations in Ncoa6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Ncoa6 APN 2 155,248,128 (GRCm39) missense probably damaging 0.99
IGL00849:Ncoa6 APN 2 155,263,608 (GRCm39) missense possibly damaging 0.89
IGL00933:Ncoa6 APN 2 155,257,317 (GRCm39) missense probably damaging 1.00
IGL00981:Ncoa6 APN 2 155,248,099 (GRCm39) missense probably damaging 0.98
IGL01420:Ncoa6 APN 2 155,249,507 (GRCm39) missense probably damaging 1.00
IGL02160:Ncoa6 APN 2 155,263,003 (GRCm39) missense possibly damaging 0.65
IGL03049:Ncoa6 APN 2 155,260,934 (GRCm39) missense probably damaging 1.00
IGL03194:Ncoa6 APN 2 155,257,788 (GRCm39) missense possibly damaging 0.94
IGL03269:Ncoa6 APN 2 155,248,409 (GRCm39) missense probably damaging 0.97
IGL03299:Ncoa6 APN 2 155,249,207 (GRCm39) missense probably damaging 0.97
IGL03306:Ncoa6 APN 2 155,247,427 (GRCm39) missense probably benign 0.30
alcoa UTSW 2 155,244,584 (GRCm39) unclassified probably benign
Aluminum UTSW 2 155,241,613 (GRCm39) critical splice acceptor site probably null
balboa UTSW 2 155,248,869 (GRCm39) missense probably benign 0.05
mauna_loa UTSW 2 155,257,147 (GRCm39) missense probably damaging 0.99
PIT4466001:Ncoa6 UTSW 2 155,247,577 (GRCm39) missense probably benign
R0011:Ncoa6 UTSW 2 155,250,211 (GRCm39) frame shift probably null
R0014:Ncoa6 UTSW 2 155,279,963 (GRCm39) missense possibly damaging 0.86
R0079:Ncoa6 UTSW 2 155,250,211 (GRCm39) frame shift probably null
R0080:Ncoa6 UTSW 2 155,250,211 (GRCm39) frame shift probably null
R0081:Ncoa6 UTSW 2 155,250,211 (GRCm39) frame shift probably null
R0164:Ncoa6 UTSW 2 155,250,211 (GRCm39) frame shift probably null
R0166:Ncoa6 UTSW 2 155,250,211 (GRCm39) frame shift probably null
R0172:Ncoa6 UTSW 2 155,250,211 (GRCm39) frame shift probably null
R0173:Ncoa6 UTSW 2 155,250,211 (GRCm39) frame shift probably null
R0245:Ncoa6 UTSW 2 155,233,131 (GRCm39) missense probably benign 0.00
R0284:Ncoa6 UTSW 2 155,250,211 (GRCm39) frame shift probably null
R0285:Ncoa6 UTSW 2 155,257,621 (GRCm39) missense probably damaging 0.96
R0285:Ncoa6 UTSW 2 155,250,211 (GRCm39) frame shift probably null
R0288:Ncoa6 UTSW 2 155,250,211 (GRCm39) frame shift probably null
R0539:Ncoa6 UTSW 2 155,257,617 (GRCm39) missense probably benign 0.08
R0652:Ncoa6 UTSW 2 155,233,131 (GRCm39) missense probably benign 0.00
R0781:Ncoa6 UTSW 2 155,253,440 (GRCm39) splice site probably benign
R1053:Ncoa6 UTSW 2 155,275,960 (GRCm39) missense probably damaging 1.00
R1110:Ncoa6 UTSW 2 155,253,440 (GRCm39) splice site probably benign
R1420:Ncoa6 UTSW 2 155,263,073 (GRCm39) nonsense probably null
R1521:Ncoa6 UTSW 2 155,257,142 (GRCm39) missense possibly damaging 0.78
R1541:Ncoa6 UTSW 2 155,257,224 (GRCm39) missense probably benign 0.35
R1677:Ncoa6 UTSW 2 155,244,584 (GRCm39) unclassified probably benign
R1858:Ncoa6 UTSW 2 155,263,559 (GRCm39) missense probably benign 0.13
R1954:Ncoa6 UTSW 2 155,248,741 (GRCm39) missense possibly damaging 0.94
R1955:Ncoa6 UTSW 2 155,248,741 (GRCm39) missense possibly damaging 0.94
R2040:Ncoa6 UTSW 2 155,248,000 (GRCm39) missense probably damaging 0.98
R2087:Ncoa6 UTSW 2 155,248,079 (GRCm39) nonsense probably null
R2159:Ncoa6 UTSW 2 155,249,633 (GRCm39) missense probably damaging 1.00
R2278:Ncoa6 UTSW 2 155,249,570 (GRCm39) missense possibly damaging 0.94
R2696:Ncoa6 UTSW 2 155,279,935 (GRCm39) missense probably benign 0.45
R2891:Ncoa6 UTSW 2 155,279,881 (GRCm39) missense possibly damaging 0.86
R3618:Ncoa6 UTSW 2 155,249,709 (GRCm39) missense possibly damaging 0.95
R3747:Ncoa6 UTSW 2 155,253,561 (GRCm39) missense probably benign 0.01
R3778:Ncoa6 UTSW 2 155,263,115 (GRCm39) missense probably damaging 1.00
R3784:Ncoa6 UTSW 2 155,249,677 (GRCm39) missense probably damaging 1.00
R3802:Ncoa6 UTSW 2 155,247,484 (GRCm39) missense probably benign
R3820:Ncoa6 UTSW 2 155,248,858 (GRCm39) missense probably damaging 1.00
R3821:Ncoa6 UTSW 2 155,248,858 (GRCm39) missense probably damaging 1.00
R3822:Ncoa6 UTSW 2 155,248,858 (GRCm39) missense probably damaging 1.00
R3870:Ncoa6 UTSW 2 155,257,477 (GRCm39) splice site probably null
R4037:Ncoa6 UTSW 2 155,249,290 (GRCm39) missense probably damaging 0.98
R4488:Ncoa6 UTSW 2 155,249,396 (GRCm39) missense possibly damaging 0.94
R4719:Ncoa6 UTSW 2 155,233,081 (GRCm39) unclassified probably benign
R4732:Ncoa6 UTSW 2 155,263,221 (GRCm39) missense probably damaging 1.00
R4733:Ncoa6 UTSW 2 155,263,221 (GRCm39) missense probably damaging 1.00
R4829:Ncoa6 UTSW 2 155,257,147 (GRCm39) missense probably damaging 0.99
R4835:Ncoa6 UTSW 2 155,249,053 (GRCm39) missense possibly damaging 0.46
R4883:Ncoa6 UTSW 2 155,248,687 (GRCm39) missense probably benign 0.29
R4967:Ncoa6 UTSW 2 155,263,252 (GRCm39) missense possibly damaging 0.80
R5021:Ncoa6 UTSW 2 155,248,869 (GRCm39) missense probably benign 0.05
R5234:Ncoa6 UTSW 2 155,279,933 (GRCm39) missense probably benign 0.01
R5356:Ncoa6 UTSW 2 155,263,112 (GRCm39) missense probably damaging 0.99
R5358:Ncoa6 UTSW 2 155,248,907 (GRCm39) missense probably damaging 0.97
R5375:Ncoa6 UTSW 2 155,275,915 (GRCm39) missense probably benign 0.16
R5412:Ncoa6 UTSW 2 155,249,701 (GRCm39) missense possibly damaging 0.95
R5579:Ncoa6 UTSW 2 155,248,597 (GRCm39) missense probably damaging 1.00
R5618:Ncoa6 UTSW 2 155,279,817 (GRCm39) missense possibly damaging 0.86
R5641:Ncoa6 UTSW 2 155,263,756 (GRCm39) missense probably benign 0.22
R5757:Ncoa6 UTSW 2 155,253,528 (GRCm39) missense probably damaging 1.00
R5761:Ncoa6 UTSW 2 155,250,061 (GRCm39) missense probably benign 0.11
R5778:Ncoa6 UTSW 2 155,248,688 (GRCm39) missense probably benign 0.01
R5852:Ncoa6 UTSW 2 155,247,419 (GRCm39) missense possibly damaging 0.88
R5940:Ncoa6 UTSW 2 155,257,785 (GRCm39) missense probably damaging 0.98
R6155:Ncoa6 UTSW 2 155,249,368 (GRCm39) missense probably damaging 1.00
R6374:Ncoa6 UTSW 2 155,263,076 (GRCm39) missense probably damaging 1.00
R6389:Ncoa6 UTSW 2 155,237,736 (GRCm39) missense probably damaging 0.98
R6669:Ncoa6 UTSW 2 155,241,613 (GRCm39) critical splice acceptor site probably null
R7097:Ncoa6 UTSW 2 155,279,983 (GRCm39) missense probably benign 0.01
R7385:Ncoa6 UTSW 2 155,249,721 (GRCm39) missense probably damaging 1.00
R7963:Ncoa6 UTSW 2 155,247,916 (GRCm39) missense probably benign 0.30
R8356:Ncoa6 UTSW 2 155,248,172 (GRCm39) missense possibly damaging 0.59
R8698:Ncoa6 UTSW 2 155,257,041 (GRCm39) missense possibly damaging 0.94
R8859:Ncoa6 UTSW 2 155,248,388 (GRCm39) missense possibly damaging 0.63
R8870:Ncoa6 UTSW 2 155,263,078 (GRCm39) missense probably damaging 0.99
R9041:Ncoa6 UTSW 2 155,257,450 (GRCm39) missense possibly damaging 0.89
R9062:Ncoa6 UTSW 2 155,263,348 (GRCm39) missense probably benign 0.42
R9088:Ncoa6 UTSW 2 155,249,726 (GRCm39) missense probably damaging 0.98
R9225:Ncoa6 UTSW 2 155,249,441 (GRCm39) missense possibly damaging 0.95
R9445:Ncoa6 UTSW 2 155,250,063 (GRCm39) missense probably benign 0.01
R9514:Ncoa6 UTSW 2 155,248,133 (GRCm39) missense probably benign 0.19
R9656:Ncoa6 UTSW 2 155,274,846 (GRCm39) missense probably damaging 1.00
R9720:Ncoa6 UTSW 2 155,250,304 (GRCm39) missense probably damaging 0.98
R9732:Ncoa6 UTSW 2 155,244,636 (GRCm39) missense probably damaging 0.99
RF033:Ncoa6 UTSW 2 155,263,651 (GRCm39) small deletion probably benign
RF040:Ncoa6 UTSW 2 155,263,651 (GRCm39) small deletion probably benign
RF048:Ncoa6 UTSW 2 155,263,632 (GRCm39) small deletion probably benign
X0017:Ncoa6 UTSW 2 155,248,460 (GRCm39) missense probably benign 0.05
Z1176:Ncoa6 UTSW 2 155,263,222 (GRCm39) missense probably damaging 0.99
Z1177:Ncoa6 UTSW 2 155,263,138 (GRCm39) missense probably damaging 1.00
Z1177:Ncoa6 UTSW 2 155,248,062 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- CTTGCTGGACAGAAGGATTAGG -3'
(R):5'- GTCAACAGTCGTCACAATGCC -3'

Sequencing Primer
(F):5'- CGACAACTGGAGAGGATGTAC -3'
(R):5'- GTCGTCACAATGCCCAACGTG -3'
Posted On 2022-07-18