Incidental Mutation 'R7097:Ncoa6'
ID 550540
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 045189-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7097 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 155232585-155315741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155279983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 11 (D11G)
Ref Sequence ENSEMBL: ENSMUSP00000045386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043126] [ENSMUST00000109669] [ENSMUST00000109670] [ENSMUST00000123293]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043126
AA Change: D11G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369
AA Change: D11G

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 benign
Transcript: ENSMUST00000109669
AA Change: D11G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105294
Gene: ENSMUSG00000038369
AA Change: D11G

DomainStartEndE-ValueType
Pfam:Nucleic_acid_bd 45 195 2.6e-61 PFAM
SCOP:d1lsha3 239 321 5e-3 SMART
low complexity region 375 383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109670
AA Change: D11G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369
AA Change: D11G

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
AA Change: D11G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000118113
Gene: ENSMUSG00000038369
AA Change: D11G

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
Meta Mutation Damage Score 0.0826 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (75/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A G 17: 9,224,052 (GRCm39) N435S probably damaging Het
Aip A T 19: 4,165,381 (GRCm39) V195E probably benign Het
Amer3 A T 1: 34,627,869 (GRCm39) I703F probably benign Het
Amfr T C 8: 94,738,637 (GRCm39) E7G probably benign Het
Angel1 A G 12: 86,773,158 (GRCm39) S4P probably damaging Het
Atp2c1 A G 9: 105,341,850 (GRCm39) I146T probably damaging Het
Atp6v0e A G 17: 26,914,390 (GRCm39) T72A probably benign Het
Bahcc1 T C 11: 120,163,472 (GRCm39) V590A possibly damaging Het
Bcl6 A G 16: 23,791,364 (GRCm39) V330A possibly damaging Het
Bcl6 T C 16: 23,791,652 (GRCm39) D234G probably damaging Het
Btaf1 C T 19: 36,926,502 (GRCm39) T58I probably damaging Het
Ccdc175 A T 12: 72,175,183 (GRCm39) probably null Het
Cdca4 C A 12: 112,785,189 (GRCm39) V180L probably benign Het
Ces1g C A 8: 94,043,665 (GRCm39) G425C possibly damaging Het
Chl1 T C 6: 103,683,409 (GRCm39) L745P probably damaging Het
Clec4g T A 8: 3,769,518 (GRCm39) T42S possibly damaging Het
Ctsg A C 14: 56,337,489 (GRCm39) I238S probably damaging Het
Cyb5rl A T 4: 106,944,513 (GRCm39) E41V unknown Het
Dcdc2a A G 13: 25,291,681 (GRCm39) E222G probably benign Het
Dnaaf1 G T 8: 120,323,538 (GRCm39) G509V possibly damaging Het
Dnah5 A G 15: 28,453,410 (GRCm39) I4394V probably benign Het
Dot1l T G 10: 80,626,560 (GRCm39) S1260R probably damaging Het
Dst T G 1: 34,208,341 (GRCm39) I1089S probably damaging Het
Efcab3 A T 11: 104,899,787 (GRCm39) I4350F possibly damaging Het
Eps8l3 A G 3: 107,791,801 (GRCm39) probably null Het
Fam135b A G 15: 71,493,917 (GRCm39) V4A possibly damaging Het
Fnip2 T C 3: 79,388,313 (GRCm39) E806G probably benign Het
Fryl T A 5: 73,231,251 (GRCm39) I1609F probably benign Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gsn A T 2: 35,185,061 (GRCm39) K339* probably null Het
Hecw2 T A 1: 53,904,283 (GRCm39) Y1155F possibly damaging Het
Kif20b T A 19: 34,951,892 (GRCm39) N1723K probably damaging Het
Kif2b T C 11: 91,467,650 (GRCm39) D211G probably benign Het
Lhfpl4 C T 6: 113,153,632 (GRCm39) V140I probably benign Het
Med16 C T 10: 79,739,177 (GRCm39) G203D probably damaging Het
Mrgpra3 T A 7: 47,239,389 (GRCm39) Y179F probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myo18b A G 5: 113,022,271 (GRCm39) S374P unknown Het
Myoz1 A G 14: 20,699,477 (GRCm39) I287T possibly damaging Het
Nlrp9c A G 7: 26,085,046 (GRCm39) Y178H probably damaging Het
Nmur1 T C 1: 86,315,230 (GRCm39) T212A probably damaging Het
Oacyl A G 18: 65,853,323 (GRCm39) D143G probably benign Het
Obox5 A G 7: 15,492,732 (GRCm39) Y229C probably damaging Het
Or10d1c A T 9: 38,893,914 (GRCm39) M142K probably benign Het
Or1j12 A G 2: 36,342,702 (GRCm39) Y35C probably damaging Het
Or1j18 G T 2: 36,624,436 (GRCm39) M34I probably benign Het
Or1x2 C A 11: 50,918,428 (GRCm39) L200I probably benign Het
Or8c13 A T 9: 38,091,632 (GRCm39) C162* probably null Het
Pcdhb17 A C 18: 37,619,566 (GRCm39) N452T probably benign Het
Pear1 T G 3: 87,658,752 (GRCm39) H901P probably benign Het
Peds1 C G 2: 167,503,398 (GRCm39) A7P probably benign Het
Pi16 A G 17: 29,545,313 (GRCm39) Y192C probably damaging Het
Pip5k1b T G 19: 24,335,424 (GRCm39) E362D probably damaging Het
Pla2g5 T C 4: 138,531,830 (GRCm39) D58G probably damaging Het
Pole T A 5: 110,472,968 (GRCm39) probably null Het
Prdm16 G T 4: 154,429,925 (GRCm39) T348K probably damaging Het
Prkdc T A 16: 15,507,207 (GRCm39) F896I probably damaging Het
Prmt7 T C 8: 106,961,732 (GRCm39) F215S unknown Het
Prss23 T A 7: 89,159,392 (GRCm39) T226S probably damaging Het
Ptpn14 G A 1: 189,595,595 (GRCm39) W739* probably null Het
Rfx5 G T 3: 94,863,850 (GRCm39) G135C probably damaging Het
Scmh1 A G 4: 120,382,252 (GRCm39) H573R probably benign Het
Serpina5 G T 12: 104,068,554 (GRCm39) probably null Het
Sh3rf2 G A 18: 42,237,227 (GRCm39) probably null Het
Slc38a2 T C 15: 96,591,182 (GRCm39) M229V probably damaging Het
Slc6a17 C G 3: 107,400,464 (GRCm39) G222R probably damaging Het
Sp110 C T 1: 85,507,406 (GRCm39) G367D possibly damaging Het
Srcap C A 7: 127,138,213 (GRCm39) L1128M probably damaging Het
Tpra1 T A 6: 88,885,276 (GRCm39) I76N probably damaging Het
Trav6-4 A T 14: 53,692,049 (GRCm39) Y52F probably benign Het
Trp63 C A 16: 25,639,227 (GRCm39) H138Q probably damaging Het
Trub2 A G 2: 29,669,838 (GRCm39) V177A possibly damaging Het
Ugt2a2 T C 5: 87,608,255 (GRCm39) D528G possibly damaging Het
Wnk2 C A 13: 49,256,314 (GRCm39) R269L possibly damaging Het
Zc3h12c T A 9: 52,027,226 (GRCm39) Q731L possibly 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
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
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'- TGCATCCAGTTTCCATTTGAAG -3'
(R):5'- TGATCTTCCAAAGCGCTGGG -3'

Sequencing Primer
(F):5'- TCCAGTTTCCATTTGAAGTCTTTATC -3'
(R):5'- CACTTTGCATATACTTCTGGA -3'
Posted On 2019-05-15