Incidental Mutation 'RF040:Ncoa6'
ID 604753
Institutional Source Beutler Lab
Gene Symbol Ncoa6
Ensembl Gene ENSMUSG00000038369
Gene Name nuclear receptor coactivator 6
Synonyms ASC-2, RAP250, NRC, AIB3, ASC2, PRIP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF040 (G1)
Quality Score 120.471
Status Not validated
Chromosome 2
Chromosomal Location 155232585-155315741 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) TGCAGC to TGC at 155263651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118113 (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
SMART Domains Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369

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
SMART Domains Protein: ENSMUSP00000105294
Gene: ENSMUSG00000038369

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
SMART Domains Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.9%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik TGCTGTG TGCTGTGACAGCTGTG 1: 82,891,298 (GRCm39) probably benign Het
A030005L19Rik G GTGGCTGCTC 1: 82,891,311 (GRCm39) probably benign Het
Brme1 TG TGTCAGGGCAGCAGCAG 8: 84,894,204 (GRCm39) probably benign Het
Cacna1f CTGAATTGGTTCCCAGACCCGTGT CT X: 7,485,210 (GRCm39) probably null Het
Calhm1 C CTGTGGCTGTGGA 19: 47,129,716 (GRCm39) probably benign Het
Cdx1 CTGCTG CTGCTGATGCTG 18: 61,152,942 (GRCm39) probably benign Het
Cyb5r4 ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA 9: 86,922,462 (GRCm39) probably benign Het
Dbr1 GAGGAG GAGGAGTAGGAG 9: 99,465,750 (GRCm39) probably null Het
Dnajc2 TAGTTG T 5: 21,962,695 (GRCm39) probably null Het
Fgd6 ATT A 10: 93,880,187 (GRCm39) probably null Het
Flywch1 CTCCTGGTGT CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT 17: 23,981,143 (GRCm39) probably null Het
Gab3 CTT CTTTTT X: 74,043,633 (GRCm39) probably benign Het
Garin5a C CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA 7: 44,149,945 (GRCm39) probably null Het
Garin5a GGGAGGA GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA 7: 44,149,955 (GRCm39) probably null Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gykl1 G A 18: 52,827,488 (GRCm39) R232Q probably benign Het
Heatr3 TAT TATTGAT 8: 88,883,085 (GRCm39) probably benign Het
Kmt2e TTT TTTTCTT 5: 23,683,507 (GRCm39) probably benign Het
Luzp1 A AGGTGGCCTCTTCAGC 4: 136,270,507 (GRCm39) probably benign Het
Mamld1 AACA AACAACA X: 70,162,420 (GRCm39) probably benign Het
Mast4 CCTCGGGGACAAGCTGTGAGTTGGGGAAC CC 13: 102,875,749 (GRCm39) probably benign Het
Med12l AGC AGCCGC 3: 59,183,388 (GRCm39) probably benign Het
Med12l GCA GCATCA 3: 59,183,410 (GRCm39) probably benign Het
Mn1 CAG CAGAAG 5: 111,567,571 (GRCm39) probably benign Het
Morn4 GCAGTGAG GCAGTGAGTCAGTCAGTGAG 19: 42,064,550 (GRCm39) probably null Het
Nlrp3 GGGTA G 11: 59,449,378 (GRCm39) probably null Het
Nolc1 AGCAGCAGC AGCAGCAGCCGCAGCAGC 19: 46,069,802 (GRCm39) probably benign Het
Nusap1 TTAGCAGTGAGGAGCAAGCTGAGA TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA 2: 119,458,068 (GRCm39) probably benign Het
Or10j2 GTGACATC G 1: 173,098,276 (GRCm39) probably null Het
Or52z15 ACTTGCTGATATCTT ACTT 7: 103,332,145 (GRCm39) probably null Het
Osmr TTCT TTCTTCT 15: 6,867,182 (GRCm39) probably benign Het
Padi3 TCTCAC TC 4: 140,520,283 (GRCm39) probably benign Het
Pdik1l AC ACCACCGC 4: 134,006,826 (GRCm39) probably benign Het
Rpgrip1 AGGAAGAGG AG 14: 52,386,994 (GRCm39) probably null Het
Rragd CATGCCTTTCATTCTA C 4: 32,995,150 (GRCm39) probably benign Het
Ryr3 CTGA C 2: 112,740,869 (GRCm39) probably benign Het
Sh3pxd2b CCTGTG CCTGTGTCTGTG 11: 32,373,055 (GRCm39) probably benign Het
Slc39a4 TGTGGTC TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC 15: 76,499,066 (GRCm39) probably benign Het
Smarca2 GC GCCCCACC 19: 26,608,422 (GRCm39) probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Sprr2b CAGTATGCTGTGAGCCTTGTCCTCCT C 3: 92,224,871 (GRCm39) probably null Het
Sry GCTG GCTGGTGGTGGTGGTCATGGAACTG Y: 2,662,590 (GRCm39) probably benign Het
Tcof1 CT CTATT 18: 60,961,480 (GRCm39) probably benign Het
Tcof1 GC GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC 18: 60,966,655 (GRCm39) probably benign Het
Tfeb AGC AGCCGC 17: 48,097,036 (GRCm39) probably benign Het
Tfeb GCA GCATCA 17: 48,097,037 (GRCm39) probably benign Het
Tfeb GCA GCAACA 17: 48,097,022 (GRCm39) probably benign Het
Tfeb CAG CAGGAG 17: 48,097,035 (GRCm39) probably benign Het
Tgoln1 T TCACCTCCCGTGGTCTTGCCAGAAG 6: 72,593,057 (GRCm39) probably benign Het
Tmem59 TTTGTTT TTTGTTTGGTTGTTT 4: 107,047,723 (GRCm39) probably benign Het
Trappc9 TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 15: 72,673,141 (GRCm39) probably benign Het
Triobp CAA CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA 15: 78,851,263 (GRCm39) probably benign Het
Xirp2 TT TTTAT 2: 67,355,888 (GRCm39) probably benign Het
Zfhx3 CAGCA CAGCAACAGGAGCA 8: 109,682,733 (GRCm39) probably benign 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
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
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'- CCTGAGTTGGAGCAGTAAACTG -3'
(R):5'- ACATGGTGGTATCAGTGGTATCAG -3'

Sequencing Primer
(F):5'- AGTAAACTGTGGTCGAATCCCCTG -3'
(R):5'- GTATCAGTGGTATCAGTAGACCC -3'
Posted On 2019-12-04