Incidental Mutation 'R9225:Ncoa6'
ID 699755
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 # R9225 (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 A at 155249441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1288 (I1288F)
Ref Sequence ENSEMBL: ENSMUSP00000045386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043126] [ENSMUST00000109670] [ENSMUST00000123293]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000043126
AA Change: I1288F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369
AA Change: I1288F

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 possibly damaging
Transcript: ENSMUST00000109670
AA Change: I1288F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369
AA Change: I1288F

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 possibly damaging
Transcript: ENSMUST00000123293
AA Change: I1288F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118113
Gene: ENSMUSG00000038369
AA Change: I1288F

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G T 5: 88,120,433 (GRCm39) V397L probably benign Het
Adam26b G T 8: 43,973,453 (GRCm39) Y516* probably null Het
Afap1 A G 5: 36,133,968 (GRCm39) K468E possibly damaging Het
Ank2 A G 3: 126,736,111 (GRCm39) S3258P unknown Het
Ap1g1 A G 8: 110,585,509 (GRCm39) K783E probably benign Het
Apbb1 A G 7: 105,218,063 (GRCm39) S20P Het
Atg13 T C 2: 91,519,128 (GRCm39) probably null Het
Atg16l2 A G 7: 100,951,188 (GRCm39) V16A probably benign Het
Atp11a G A 8: 12,867,005 (GRCm39) R144Q probably benign Het
Avpr1a A T 10: 122,285,466 (GRCm39) T253S probably benign Het
B4galnt3 T C 6: 120,195,928 (GRCm39) T300A probably damaging Het
Bag4 A G 8: 26,261,270 (GRCm39) V157A probably benign Het
Brsk2 A G 7: 141,547,039 (GRCm39) H494R probably damaging Het
Cacna2d2 G A 9: 107,403,403 (GRCm39) G955S probably benign Het
Ccdc42 A T 11: 68,479,061 (GRCm39) E83V probably damaging Het
Cep120 T C 18: 53,839,896 (GRCm39) Q788R probably benign Het
Cnbd1 A G 4: 18,907,010 (GRCm39) I188T probably benign Het
Col6a6 C T 9: 105,659,437 (GRCm39) E503K possibly damaging Het
Cpt1c A T 7: 44,610,213 (GRCm39) L661H probably damaging Het
Cyp2a22 T C 7: 26,637,202 (GRCm39) D194G possibly damaging Het
Cyp2c70 C A 19: 40,168,912 (GRCm39) R125L probably damaging Het
Cyp3a41a A T 5: 145,650,414 (GRCm39) D76E probably benign Het
Cyp4f13 A T 17: 33,144,319 (GRCm39) I458N probably damaging Het
Cyp4f13 T C 17: 33,148,175 (GRCm39) Q350R probably damaging Het
Ddx60 G A 8: 62,470,875 (GRCm39) V1456I probably benign Het
Dgkh T C 14: 78,962,507 (GRCm39) H8R probably damaging Het
Diaph3 A G 14: 87,244,760 (GRCm39) probably null Het
Dnah8 A C 17: 30,854,647 (GRCm39) D103A probably benign Het
Dock4 G A 12: 40,879,669 (GRCm39) R1551Q probably benign Het
Eps8 A T 6: 137,507,561 (GRCm39) S56T probably benign Het
Fam171b T A 2: 83,710,386 (GRCm39) L686Q probably damaging Het
Fndc3b A C 3: 27,510,680 (GRCm39) L814* probably null Het
Gcnt2 T A 13: 41,014,336 (GRCm39) L169Q probably damaging Het
Gm21103 T A 14: 17,484,877 (GRCm39) I56F possibly damaging Het
Gpc1 A T 1: 92,783,742 (GRCm39) K276N probably damaging Het
Hivep1 T A 13: 42,337,184 (GRCm39) V2421D probably damaging Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Ifi208 A G 1: 173,518,294 (GRCm39) D467G possibly damaging Het
Klhl22 A G 16: 17,594,617 (GRCm39) M249V probably damaging Het
Kmt2b A G 7: 30,286,172 (GRCm39) V240A unknown Het
Lacc1 A T 14: 77,272,414 (GRCm39) Y127* probably null Het
Lgr4 C A 2: 109,842,485 (GRCm39) H823Q probably benign Het
Llgl1 T C 11: 60,600,889 (GRCm39) S662P probably damaging Het
Lrrc1 G A 9: 77,359,955 (GRCm39) T279I probably benign Het
Lrrc8e T A 8: 4,284,561 (GRCm39) V262E probably damaging Het
Magi1 G T 6: 93,762,511 (GRCm39) P292T possibly damaging Het
Mccc1 T A 3: 36,018,511 (GRCm39) I608F probably benign Het
Mroh8 T A 2: 157,107,010 (GRCm39) I220L probably damaging Het
Mtcl3 A T 10: 29,072,327 (GRCm39) K540* probably null Het
Mycn C A 12: 12,987,609 (GRCm39) D263Y probably damaging Het
Myrip A G 9: 120,293,850 (GRCm39) K782E probably damaging Het
Nebl A G 2: 17,405,322 (GRCm39) I399T possibly damaging Het
Neurod1 A T 2: 79,284,731 (GRCm39) H217Q probably benign Het
Nlrp5 T C 7: 23,117,371 (GRCm39) V365A probably benign Het
Or1e1 C A 11: 73,244,595 (GRCm39) N5K probably damaging Het
Or2ag12 A G 7: 106,276,976 (GRCm39) V239A probably benign Het
Or5b100-ps1 G C 19: 12,994,371 (GRCm39) *261Y probably null Het
Or5b100-ps1 A G 19: 12,994,370 (GRCm39) *261W probably null Het
Otud7a A G 7: 63,407,469 (GRCm39) T591A possibly damaging Het
Pbx3 T C 2: 34,260,938 (GRCm39) probably benign Het
Pcdhb4 A T 18: 37,441,695 (GRCm39) Q335L possibly damaging Het
Plxnc1 C A 10: 94,629,061 (GRCm39) C1571F probably damaging Het
Pola2 G A 19: 6,000,492 (GRCm39) P330S probably benign Het
Ppm1l A T 3: 69,460,244 (GRCm39) N274Y probably benign Het
Ppp4r3b A G 11: 29,155,648 (GRCm39) D538G possibly damaging Het
Ptx4 C T 17: 25,341,696 (GRCm39) T57I probably benign Het
Rchy1 A T 5: 92,105,396 (GRCm39) C108* probably null Het
Rif1 A G 2: 52,001,862 (GRCm39) E130G probably benign Het
Rmdn1 A T 4: 19,601,385 (GRCm39) Y219F probably damaging Het
Rnf144a A G 12: 26,377,606 (GRCm39) C46R probably damaging Het
Rpl13a C A 7: 44,775,627 (GRCm39) G146V probably damaging Het
Rpl13a C A 7: 44,775,628 (GRCm39) G146W probably damaging Het
Rtn3 A T 19: 7,434,854 (GRCm39) N379K probably damaging Het
Sdc1 G T 12: 8,821,817 (GRCm39) R19L unknown Het
Shank1 A G 7: 43,983,470 (GRCm39) I651V unknown Het
Slamf6 T C 1: 171,764,270 (GRCm39) V221A probably benign Het
Sp9 C A 2: 73,103,839 (GRCm39) S131* probably null Het
Spen T C 4: 141,202,943 (GRCm39) T1895A possibly damaging Het
Taf6l CGCAGCCGCACCTG CG 19: 8,751,688 (GRCm39) probably benign Het
Thada G T 17: 84,749,172 (GRCm39) H600N possibly damaging Het
Trmt11 G T 10: 30,423,753 (GRCm39) P384Q probably damaging Het
Tsnaxip1 T C 8: 106,566,659 (GRCm39) L165P probably damaging Het
Ttc7 A G 17: 87,637,502 (GRCm39) Y419C probably damaging Het
Ugt1a6a T C 1: 88,066,560 (GRCm39) F122S probably benign Het
Vmn1r218 G A 13: 23,320,824 (GRCm39) C57Y probably benign Het
Vmn2r14 T C 5: 109,369,288 (GRCm39) N95S probably damaging Het
Vmn2r2 G T 3: 64,034,021 (GRCm39) H500Q probably benign Het
Vmn2r70 T A 7: 85,208,242 (GRCm39) Y745F probably damaging Het
Zfp189 C T 4: 49,530,193 (GRCm39) S432F probably benign Het
Zscan2 C T 7: 80,513,021 (GRCm39) A2V probably damaging 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
R9445:Ncoa6 UTSW 2 155,250,063 (GRCm39) missense probably benign 0.01
R9497:Ncoa6 UTSW 2 155,248,238 (GRCm39) missense probably damaging 0.97
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'- GGGGTAGTTTTCCTACTGGACC -3'
(R):5'- TTTCCAAATGTGGCTGCTCC -3'

Sequencing Primer
(F):5'- TGGACCCAGGACTCGAC -3'
(R):5'- TGGCTGCTCCAACCCAGAC -3'
Posted On 2022-02-07