Incidental Mutation 'R9732:Ncoa6'
ID 731450
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 # R9732 (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 G at 155244636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 1978 (K1978T)
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: K1978T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369
AA Change: K1978T

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: K1978T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369
AA Change: K1978T

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A T 4: 156,258,446 (GRCm39) S1007T probably benign Het
Akap10 A T 11: 61,787,545 (GRCm39) C466S probably damaging Het
Apol9b C T 15: 77,619,566 (GRCm39) P121S possibly damaging Het
Atr T A 9: 95,743,438 (GRCm39) Y26N probably damaging Het
Cadm2 G A 16: 66,528,297 (GRCm39) T346I probably benign Het
Capn7 T C 14: 31,090,031 (GRCm39) I628T probably damaging Het
Cfap43 A G 19: 47,775,446 (GRCm39) S609P probably damaging Het
Chst2 C T 9: 95,287,951 (GRCm39) G132S probably benign Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Coq10a A G 10: 128,199,516 (GRCm39) F253L probably benign Het
Cyp2t4 C T 7: 26,854,657 (GRCm39) P46S probably damaging Het
Ddx54 T C 5: 120,763,911 (GRCm39) probably null Het
Dip2a T A 10: 76,110,077 (GRCm39) I1180L probably benign Het
Dpp8 G T 9: 64,970,862 (GRCm39) probably null Het
Efr3a T A 15: 65,720,139 (GRCm39) N378K probably benign Het
Etl4 C T 2: 20,748,373 (GRCm39) T237I probably damaging Het
Exo1 T A 1: 175,727,065 (GRCm39) S459T probably benign Het
Fam81b G A 13: 76,399,985 (GRCm39) T91I probably benign Het
Fry A G 5: 150,328,758 (GRCm39) E1297G probably benign Het
Gm11110 G A 17: 57,410,382 (GRCm39) L39F unknown Het
Gm3233 G T 10: 77,595,147 (GRCm39) Q124K unknown Het
Gm7145 C G 1: 117,913,839 (GRCm39) H240Q probably benign Het
Gnrh1 G T 14: 67,985,316 (GRCm39) R67L possibly damaging Het
Grip2 T A 6: 91,761,686 (GRCm39) E236V probably damaging Het
H3c10 A T 13: 21,902,186 (GRCm39) I120F probably benign Het
Hectd4 G T 5: 121,392,254 (GRCm39) E173* probably null Het
Hgf T A 5: 16,820,748 (GRCm39) L632I probably damaging Het
Igsf11 T C 16: 38,843,652 (GRCm39) V255A probably benign Het
Jmjd4 G T 11: 59,341,339 (GRCm39) probably null Het
Khdrbs3 C A 15: 68,885,212 (GRCm39) N71K probably damaging Het
Kif20b A G 19: 34,930,353 (GRCm39) D1286G probably benign Het
Lpin3 T A 2: 160,734,196 (GRCm39) L27Q probably damaging Het
Macroh2a1 G C 13: 56,243,976 (GRCm39) F183L probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mipep T A 14: 61,033,637 (GRCm39) F184I probably damaging Het
Mst1 A T 9: 107,959,425 (GRCm39) D237V possibly damaging Het
Mycbp2 T C 14: 103,448,749 (GRCm39) D1803G probably damaging Het
Nkain4 G A 2: 180,585,901 (GRCm39) T54I probably damaging Het
Olig3 G A 10: 19,233,151 (GRCm39) A259T probably benign Het
Or5w14 T C 2: 87,541,489 (GRCm39) T254A possibly damaging Het
Pacs1 A G 19: 5,184,997 (GRCm39) W943R probably damaging Het
Pkp4 T A 2: 59,138,797 (GRCm39) L349Q possibly damaging Het
Polh A T 17: 46,498,997 (GRCm39) H239Q probably benign Het
Ptprq G C 10: 107,412,767 (GRCm39) C1777W probably damaging Het
Rhod A T 19: 4,476,740 (GRCm39) V127E probably damaging Het
Rnf6 A G 5: 146,152,931 (GRCm39) S84P probably benign Het
Rundc3b T C 5: 8,562,406 (GRCm39) T321A probably damaging Het
Rxfp2 G A 5: 149,993,767 (GRCm39) A620T probably damaging Het
Sacm1l A G 9: 123,381,863 (GRCm39) E155G probably benign Het
Saxo5 C T 8: 3,526,167 (GRCm39) H107Y possibly damaging Het
Sdad1 A T 5: 92,438,942 (GRCm39) D471E probably benign Het
Sema6a T A 18: 47,381,925 (GRCm39) N874I probably damaging Het
Serinc4 C A 2: 121,283,631 (GRCm39) W283L possibly damaging Het
Simc1 GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA 13: 54,673,177 (GRCm39) probably benign Het
Slc24a3 A T 2: 145,458,591 (GRCm39) S524C probably damaging Het
Slc4a10 T G 2: 62,135,086 (GRCm39) S1042R probably damaging Het
Smg7 A T 1: 152,736,212 (GRCm39) V190D probably damaging Het
Sub1 T A 15: 11,986,650 (GRCm39) I66F possibly damaging Het
Svop G A 5: 114,201,142 (GRCm39) P109S probably damaging Het
Synj1 G A 16: 90,761,414 (GRCm39) P684L probably damaging Het
Synm A G 7: 67,385,652 (GRCm39) V670A probably damaging Het
Tep1 T C 14: 51,088,162 (GRCm39) I792V probably benign Het
Tex22 A G 12: 113,052,196 (GRCm39) T85A possibly damaging Het
Tmem151a C T 19: 5,131,937 (GRCm39) S423N probably damaging Het
Tnks1bp1 T A 2: 84,889,727 (GRCm39) W685R probably damaging Het
Top3a A G 11: 60,640,391 (GRCm39) F436L probably benign Het
Trim55 A T 3: 19,716,039 (GRCm39) I200F probably damaging Het
Trpv6 T A 6: 41,603,862 (GRCm39) R186* probably null Het
Ttc6 G A 12: 57,775,335 (GRCm39) C1677Y probably benign Het
Ttn C T 2: 76,769,206 (GRCm39) V2831I unknown Het
Tyrp1 T A 4: 80,758,930 (GRCm39) S268T possibly damaging Het
Unc5d C T 8: 29,381,319 (GRCm39) probably null Het
Usb1 G T 8: 96,065,375 (GRCm39) V129L probably damaging Het
Usp22 G A 11: 61,051,437 (GRCm39) T302M probably damaging Het
Vmn1r210 C A 13: 23,011,379 (GRCm39) L302F possibly damaging Het
Zfp689 C A 7: 127,044,283 (GRCm39) E116* 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
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
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'- TGCCACACAATTGAAGCTGG -3'
(R):5'- CCTGGCTCTTTCTAGTGTAAAGG -3'

Sequencing Primer
(F):5'- CCACACAATTGAAGCTGGCTTGG -3'
(R):5'- AGCAGATCCTTGCTGCTGAAG -3'
Posted On 2022-11-14