Incidental Mutation 'R5940:Ncoa6'
ID 462466
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 044132-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5940 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 155232585-155315741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155257785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 586 (M586K)
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 damaging
Transcript: ENSMUST00000043126
AA Change: M586K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045386
Gene: ENSMUSG00000038369
AA Change: M586K

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 damaging
Transcript: ENSMUST00000109670
AA Change: M586K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105295
Gene: ENSMUSG00000038369
AA Change: M586K

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 damaging
Transcript: ENSMUST00000123293
AA Change: M586K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118113
Gene: ENSMUSG00000038369
AA Change: M586K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141928
Meta Mutation Damage Score 0.0722 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (88/92)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,645 (GRCm39) Y440C possibly damaging Het
Aasdh G T 5: 77,030,745 (GRCm39) S618R probably benign Het
Alpk1 T G 3: 127,464,595 (GRCm39) T1228P probably benign Het
Ank3 T C 10: 69,756,316 (GRCm39) V850A probably benign Het
Apeh A T 9: 107,969,098 (GRCm39) probably null Het
Ash1l C T 3: 88,891,343 (GRCm39) T1074I probably damaging Het
C3 G A 17: 57,517,244 (GRCm39) S1297F possibly damaging Het
Cchcr1 G A 17: 35,835,890 (GRCm39) R284Q probably damaging Het
Cd93 A T 2: 148,284,152 (GRCm39) I398N probably benign Het
Cdcp3 A T 7: 130,839,992 (GRCm39) D638V probably damaging Het
Chrd G T 16: 20,553,336 (GRCm39) R226L probably null Het
Clvs1 A T 4: 9,449,443 (GRCm39) N344I possibly damaging Het
Cyp4v3 A T 8: 45,774,821 (GRCm39) I111N probably damaging Het
Cysltr2 T A 14: 73,267,389 (GRCm39) Y107F probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Czib A G 4: 107,750,485 (GRCm39) probably benign Het
Defb47 A T 14: 63,238,359 (GRCm39) E28D probably benign Het
Dnajc30 T A 5: 135,093,413 (GRCm39) Y103* probably null Het
Drap1 T C 19: 5,473,028 (GRCm39) T160A probably benign Het
Dsp A G 13: 38,380,002 (GRCm39) E2249G possibly damaging Het
E2f8 T A 7: 48,520,825 (GRCm39) I499F probably benign Het
Ebf1 T A 11: 44,512,048 (GRCm39) Y116N probably damaging Het
Ecrg4 C T 1: 43,776,401 (GRCm39) R41* probably null Het
Ect2 C A 3: 27,169,614 (GRCm39) E746D probably benign Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Fat4 T C 3: 38,943,798 (GRCm39) V897A probably benign Het
Gja3 T A 14: 57,273,317 (GRCm39) S352C probably damaging Het
Gpr153 C A 4: 152,367,832 (GRCm39) P561Q probably benign Het
Hlcs T C 16: 93,935,571 (GRCm39) M574V probably damaging Het
Hmcn1 A G 1: 150,532,973 (GRCm39) V3070A probably benign Het
Hsd3b2 G T 3: 98,619,287 (GRCm39) N219K probably benign Het
Htra3 T C 5: 35,810,324 (GRCm39) I453V possibly damaging Het
Klrc1 A T 6: 129,651,898 (GRCm39) M220K possibly damaging Het
Kntc1 T G 5: 123,924,258 (GRCm39) I1048S probably benign Het
Lrrc37 T C 11: 103,504,712 (GRCm39) S243G probably benign Het
Macf1 T A 4: 123,326,674 (GRCm39) D2822V probably damaging Het
Mcu T A 10: 59,292,554 (GRCm39) I42F possibly damaging Het
Mkln1 T A 6: 31,466,307 (GRCm39) D521E probably damaging Het
Ms4a13 T C 19: 11,170,330 (GRCm39) N5D possibly damaging Het
Msh3 T G 13: 92,386,351 (GRCm39) N838T probably damaging Het
Msl2 T A 9: 100,978,290 (GRCm39) C221* probably null Het
Ncapd2 A G 6: 125,145,832 (GRCm39) S1310P probably benign Het
Ndel1 C T 11: 68,713,397 (GRCm39) probably benign Het
Ndst4 T C 3: 125,355,068 (GRCm39) probably benign Het
Nes T G 3: 87,883,259 (GRCm39) V506G probably damaging Het
Nrg1 T C 8: 32,339,372 (GRCm39) K200E probably damaging Het
Nt5c1b A G 12: 10,425,515 (GRCm39) K295E probably damaging Het
Or4f54 G A 2: 111,122,729 (GRCm39) V39M possibly damaging Het
Or5b123 T A 19: 13,596,517 (GRCm39) probably null Het
Or6s1 T A 14: 51,308,179 (GRCm39) I224L probably damaging Het
Or8b4 C T 9: 37,830,733 (GRCm39) T260I probably damaging Het
Or8g51 G T 9: 38,609,007 (GRCm39) Y218* probably null Het
Or8k38 A T 2: 86,488,394 (GRCm39) M136K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pde1a A G 2: 79,718,183 (GRCm39) probably null Het
Pds5a A G 5: 65,801,328 (GRCm39) probably benign Het
Plbd1 A T 6: 136,590,719 (GRCm39) probably benign Het
Plod2 T A 9: 92,473,450 (GRCm39) V292E probably benign Het
Polg A G 7: 79,103,819 (GRCm39) V879A possibly damaging Het
Ppargc1a C T 5: 51,631,253 (GRCm39) A459T probably damaging Het
Prorp T A 12: 55,351,659 (GRCm39) W323R probably damaging Het
Psip1 T C 4: 83,394,559 (GRCm39) E83G probably damaging Het
Rhbdf1 T C 11: 32,159,847 (GRCm39) D843G probably benign Het
Rnpepl1 G T 1: 92,845,434 (GRCm39) C451F probably damaging Het
Rrp1 T C 10: 78,241,249 (GRCm39) D206G probably damaging Het
Setbp1 A T 18: 78,798,703 (GRCm39) D1492E probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc16a6 C T 11: 109,364,022 (GRCm39) probably benign Homo
Slc7a6os A G 8: 106,937,437 (GRCm39) S37P probably damaging Het
Tenm4 T A 7: 96,495,102 (GRCm39) S1140T probably damaging Het
Thoc6 C A 17: 23,889,315 (GRCm39) R115L probably benign Het
Tmem63c C T 12: 87,121,946 (GRCm39) H385Y probably benign Het
Trpm8 G T 1: 88,279,137 (GRCm39) E649* probably null Het
Usf1 A G 1: 171,245,347 (GRCm39) E253G possibly damaging Het
Vps13d T C 4: 144,801,545 (GRCm39) T443A probably benign Het
Wdr86 T C 5: 24,927,660 (GRCm39) Y93C probably damaging Het
Zfp597 A T 16: 3,683,685 (GRCm39) I357N probably damaging Het
Zfp709 A G 8: 72,644,064 (GRCm39) I497V possibly damaging Het
Zxdc T C 6: 90,347,307 (GRCm39) S223P 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
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
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'- TAAGCTGGGCCCTTGAAAGG -3'
(R):5'- CAGAAAGTGTGTTAAACATGTGC -3'

Sequencing Primer
(F):5'- CAAAGTTCCTTGTTGCTGGGCC -3'
(R):5'- TGTTAAACATGTGCATTTATGTTGG -3'
Posted On 2017-02-28