Incidental Mutation 'IGL02111:Ncoa1'
ID 280162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncoa1
Ensembl Gene ENSMUSG00000020647
Gene Name nuclear receptor coactivator 1
Synonyms KAT13A, steroid receptor coactivator-1, SRC-a/NCoA-1, SRC1, SRC-1, bHLHe74
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02111
Quality Score
Status
Chromosome 12
Chromosomal Location 4297362-4527182 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 4324944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085814] [ENSMUST00000217674] [ENSMUST00000217794] [ENSMUST00000220434]
AlphaFold P70365
Predicted Effect possibly damaging
Transcript: ENSMUST00000085814
AA Change: M990K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082971
Gene: ENSMUSG00000020647
AA Change: M990K

DomainStartEndE-ValueType
HLH 29 86 1.73e-9 SMART
PAS 111 178 1.32e-10 SMART
Pfam:PAS_11 259 370 8e-37 PFAM
low complexity region 419 441 N/A INTRINSIC
Pfam:NCOA_u2 468 591 1.3e-29 PFAM
Pfam:SRC-1 632 712 3.5e-26 PFAM
low complexity region 724 736 N/A INTRINSIC
PDB:3RVF|B 747 767 1e-6 PDB
low complexity region 777 785 N/A INTRINSIC
low complexity region 869 880 N/A INTRINSIC
Pfam:Nuc_rec_co-act 930 977 2.3e-23 PFAM
low complexity region 1059 1080 N/A INTRINSIC
low complexity region 1125 1137 N/A INTRINSIC
DUF1518 1155 1211 7.47e-16 SMART
DUF1518 1218 1274 1.14e-11 SMART
low complexity region 1303 1315 N/A INTRINSIC
low complexity region 1333 1354 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000217674
AA Change: M879K

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217794
AA Change: M990K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably null
Transcript: ENSMUST00000218191
AA Change: M1K
Predicted Effect possibly damaging
Transcript: ENSMUST00000220434
AA Change: M990K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show osteopenia, increased serum sex hormone levels, altered bone remodeling and skeletal responses to sex hormones, and obesity. Homozygotes for another null allele show thyroid and steroid hormone resistance, delayed Purkinje cell development, and behavioral deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 G A 8: 95,761,627 (GRCm39) R130Q probably damaging Het
Adipor2 A T 6: 119,347,157 (GRCm39) L42* probably null Het
Ankrd45 A G 1: 160,990,921 (GRCm39) K259E probably damaging Het
Apoc3 T C 9: 46,145,772 (GRCm39) K79R possibly damaging Het
Arhgap40 T C 2: 158,381,764 (GRCm39) Y416H probably damaging Het
Armc5 A G 7: 127,843,255 (GRCm39) T683A probably benign Het
Bora T C 14: 99,284,813 (GRCm39) V21A probably damaging Het
Cacna1b C T 2: 24,497,003 (GRCm39) S2189N probably damaging Het
Cct2 G A 10: 116,889,017 (GRCm39) T57I probably damaging Het
Cd200r1 A T 16: 44,609,144 (GRCm39) N34Y probably damaging Het
Cd300ld2 T A 11: 114,903,219 (GRCm39) probably benign Het
Cntnap5a G A 1: 116,017,082 (GRCm39) R225H probably benign Het
Cntnap5c A T 17: 58,409,103 (GRCm39) D447V probably damaging Het
Cpne7 T C 8: 123,852,392 (GRCm39) probably benign Het
Dap3 G A 3: 88,836,725 (GRCm39) T92I probably benign Het
Dnmbp A G 19: 43,855,994 (GRCm39) L254P probably damaging Het
Egfem1 G A 3: 29,705,045 (GRCm39) probably null Het
Fam120b T C 17: 15,622,847 (GRCm39) L275P possibly damaging Het
Fam161a A T 11: 22,970,026 (GRCm39) H68L probably benign Het
Fam193a A G 5: 34,568,001 (GRCm39) E100G possibly damaging Het
Ftmt A T 18: 52,465,125 (GRCm39) D147V possibly damaging Het
Gm10136 T C 19: 28,981,122 (GRCm39) K41E probably benign Het
Gm10797 C T 10: 67,408,397 (GRCm39) noncoding transcript Het
Hsf1 A G 15: 76,380,281 (GRCm39) probably benign Het
Ipo8 A G 6: 148,701,278 (GRCm39) V514A probably damaging Het
Itfg2 T C 6: 128,387,344 (GRCm39) H422R probably benign Het
Lrp4 G T 2: 91,336,404 (GRCm39) L1738F probably damaging Het
Matcap2 T C 9: 22,335,475 (GRCm39) I31T probably benign Het
Mettl17 A G 14: 52,128,843 (GRCm39) E371G probably damaging Het
Mfsd6 A T 1: 52,747,503 (GRCm39) L454Q probably damaging Het
Myh10 A T 11: 68,680,938 (GRCm39) E956V probably damaging Het
Or2d3c A C 7: 106,525,823 (GRCm39) V281G probably damaging Het
Or52e4 A G 7: 104,706,152 (GRCm39) D233G probably benign Het
Or5d36 T A 2: 87,901,571 (GRCm39) N52Y probably benign Het
Otop1 T A 5: 38,435,045 (GRCm39) C89S probably benign Het
Pitrm1 G T 13: 6,623,181 (GRCm39) R775L probably benign Het
Prpf19 A G 19: 10,882,458 (GRCm39) T512A probably benign Het
Prpf4b T A 13: 35,067,944 (GRCm39) S258T probably benign Het
Rhbdl2 T C 4: 123,716,630 (GRCm39) Y196H probably damaging Het
Rnf187 T C 11: 58,828,006 (GRCm39) D148G probably damaging Het
Sbds A G 5: 130,279,782 (GRCm39) I74T probably damaging Het
Sec63 T C 10: 42,686,884 (GRCm39) V468A probably damaging Het
Slc35b3 A T 13: 39,139,758 (GRCm39) M23K probably damaging Het
Slc6a9 A T 4: 117,721,210 (GRCm39) Y208F probably benign Het
Slfn8 A T 11: 82,895,324 (GRCm39) L494Q probably damaging Het
Sorcs1 T G 19: 50,218,683 (GRCm39) M600L probably benign Het
Supt7l T C 5: 31,673,022 (GRCm39) probably null Het
Tecrl T A 5: 83,502,639 (GRCm39) Q70L probably damaging Het
Tedc2 A T 17: 24,437,140 (GRCm39) probably benign Het
Tespa1 A G 10: 130,191,353 (GRCm39) D99G probably damaging Het
Tmem126b G T 7: 90,118,269 (GRCm39) Q204K probably damaging Het
Tmem181c-ps A T 17: 6,887,766 (GRCm39) noncoding transcript Het
Tmem184a G T 5: 139,798,856 (GRCm39) T31K possibly damaging Het
Tmprss11e T A 5: 86,867,660 (GRCm39) I137F possibly damaging Het
Tmprss13 C T 9: 45,247,403 (GRCm39) T255I probably damaging Het
Top1mt G A 15: 75,537,555 (GRCm39) probably benign Het
Treh C T 9: 44,594,258 (GRCm39) T168I probably benign Het
Ttn A T 2: 76,597,672 (GRCm39) I11420N probably benign Het
Zp2 T C 7: 119,731,641 (GRCm39) K705E possibly damaging Het
Zw10 T C 9: 48,980,054 (GRCm39) I395T probably damaging Het
Other mutations in Ncoa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Ncoa1 APN 12 4,328,218 (GRCm39) missense probably benign
IGL01335:Ncoa1 APN 12 4,347,520 (GRCm39) missense probably benign 0.31
IGL02863:Ncoa1 APN 12 4,347,513 (GRCm39) missense probably benign 0.00
IGL02967:Ncoa1 APN 12 4,345,294 (GRCm39) missense probably damaging 1.00
IGL03007:Ncoa1 APN 12 4,389,114 (GRCm39) missense possibly damaging 0.92
IGL03031:Ncoa1 APN 12 4,324,818 (GRCm39) missense possibly damaging 0.76
IGL03048:Ncoa1 UTSW 12 4,317,922 (GRCm39) missense probably damaging 0.96
IGL03147:Ncoa1 UTSW 12 4,309,342 (GRCm39) missense probably damaging 1.00
PIT1430001:Ncoa1 UTSW 12 4,373,005 (GRCm39) missense probably benign 0.19
PIT4402001:Ncoa1 UTSW 12 4,344,987 (GRCm39) missense probably benign 0.00
R0002:Ncoa1 UTSW 12 4,340,885 (GRCm39) missense probably benign 0.00
R0011:Ncoa1 UTSW 12 4,372,896 (GRCm39) missense possibly damaging 0.94
R0389:Ncoa1 UTSW 12 4,345,976 (GRCm39) missense probably benign 0.05
R0467:Ncoa1 UTSW 12 4,317,687 (GRCm39) missense possibly damaging 0.49
R0480:Ncoa1 UTSW 12 4,389,105 (GRCm39) missense probably damaging 1.00
R0541:Ncoa1 UTSW 12 4,373,033 (GRCm39) missense probably damaging 1.00
R0671:Ncoa1 UTSW 12 4,299,758 (GRCm39) splice site probably null
R1387:Ncoa1 UTSW 12 4,324,790 (GRCm39) missense probably benign 0.01
R1426:Ncoa1 UTSW 12 4,320,737 (GRCm39) splice site probably benign
R1538:Ncoa1 UTSW 12 4,320,748 (GRCm39) missense possibly damaging 0.94
R1577:Ncoa1 UTSW 12 4,345,196 (GRCm39) missense probably damaging 0.99
R1902:Ncoa1 UTSW 12 4,389,049 (GRCm39) missense possibly damaging 0.78
R1905:Ncoa1 UTSW 12 4,345,433 (GRCm39) missense probably damaging 1.00
R2026:Ncoa1 UTSW 12 4,317,647 (GRCm39) missense probably benign 0.19
R2259:Ncoa1 UTSW 12 4,365,819 (GRCm39) missense probably damaging 1.00
R2317:Ncoa1 UTSW 12 4,325,189 (GRCm39) missense probably damaging 0.99
R3608:Ncoa1 UTSW 12 4,328,186 (GRCm39) missense probably benign 0.00
R4042:Ncoa1 UTSW 12 4,317,871 (GRCm39) missense probably damaging 0.99
R4688:Ncoa1 UTSW 12 4,365,781 (GRCm39) missense probably benign 0.26
R4763:Ncoa1 UTSW 12 4,325,297 (GRCm39) missense probably damaging 1.00
R4878:Ncoa1 UTSW 12 4,325,004 (GRCm39) missense probably damaging 1.00
R5062:Ncoa1 UTSW 12 4,309,333 (GRCm39) missense probably damaging 0.99
R5531:Ncoa1 UTSW 12 4,303,746 (GRCm39) missense probably benign
R6393:Ncoa1 UTSW 12 4,328,181 (GRCm39) missense probably benign 0.00
R6711:Ncoa1 UTSW 12 4,372,904 (GRCm39) missense probably benign 0.26
R7066:Ncoa1 UTSW 12 4,372,934 (GRCm39) missense possibly damaging 0.90
R7109:Ncoa1 UTSW 12 4,372,978 (GRCm39) missense possibly damaging 0.63
R7170:Ncoa1 UTSW 12 4,299,722 (GRCm39) missense probably benign 0.32
R7395:Ncoa1 UTSW 12 4,345,188 (GRCm39) missense not run
R7453:Ncoa1 UTSW 12 4,309,307 (GRCm39) missense probably damaging 1.00
R7556:Ncoa1 UTSW 12 4,320,794 (GRCm39) missense probably damaging 0.98
R7821:Ncoa1 UTSW 12 4,346,221 (GRCm39) missense probably benign 0.00
R7872:Ncoa1 UTSW 12 4,328,186 (GRCm39) missense probably benign 0.00
R7885:Ncoa1 UTSW 12 4,389,044 (GRCm39) missense probably damaging 1.00
R7936:Ncoa1 UTSW 12 4,385,873 (GRCm39) missense possibly damaging 0.53
R7940:Ncoa1 UTSW 12 4,363,095 (GRCm39) missense possibly damaging 0.50
R8126:Ncoa1 UTSW 12 4,340,951 (GRCm39) missense probably damaging 1.00
R8176:Ncoa1 UTSW 12 4,317,858 (GRCm39) missense possibly damaging 0.90
R8492:Ncoa1 UTSW 12 4,313,473 (GRCm39) missense probably damaging 1.00
R8510:Ncoa1 UTSW 12 4,309,303 (GRCm39) missense probably benign
R8772:Ncoa1 UTSW 12 4,372,940 (GRCm39) missense possibly damaging 0.63
R9082:Ncoa1 UTSW 12 4,346,106 (GRCm39) missense probably benign 0.02
R9094:Ncoa1 UTSW 12 4,345,494 (GRCm39) missense possibly damaging 0.86
R9238:Ncoa1 UTSW 12 4,325,177 (GRCm39) missense possibly damaging 0.95
R9434:Ncoa1 UTSW 12 4,365,755 (GRCm39) missense probably benign
R9491:Ncoa1 UTSW 12 4,340,912 (GRCm39) missense probably benign 0.20
R9542:Ncoa1 UTSW 12 4,325,178 (GRCm39) missense possibly damaging 0.57
R9625:Ncoa1 UTSW 12 4,345,643 (GRCm39) missense probably damaging 1.00
Z1177:Ncoa1 UTSW 12 4,356,514 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16