Incidental Mutation 'IGL01889:Ncor1'
ID 179206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncor1
Ensembl Gene ENSMUSG00000018501
Gene Name nuclear receptor co-repressor 1
Synonyms Rxrip13, 5730405M06Rik, A230020K14Rik, N-CoR
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01889
Quality Score
Status
Chromosome 11
Chromosomal Location 62207132-62348200 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62225427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1048 (V1048A)
Ref Sequence ENSEMBL: ENSMUSP00000122654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018645] [ENSMUST00000037575] [ENSMUST00000101066] [ENSMUST00000101067] [ENSMUST00000155712]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018645
AA Change: V1778A

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018645
Gene: ENSMUSG00000018501
AA Change: V1778A

DomainStartEndE-ValueType
low complexity region 51 74 N/A INTRINSIC
Pfam:GPS2_interact 150 239 1.4e-37 PFAM
coiled coil region 302 329 N/A INTRINSIC
low complexity region 349 366 N/A INTRINSIC
SANT 437 485 2.76e-7 SMART
coiled coil region 507 544 N/A INTRINSIC
low complexity region 593 617 N/A INTRINSIC
SANT 624 672 3.29e-14 SMART
low complexity region 710 731 N/A INTRINSIC
low complexity region 771 788 N/A INTRINSIC
low complexity region 888 899 N/A INTRINSIC
low complexity region 987 995 N/A INTRINSIC
low complexity region 1002 1013 N/A INTRINSIC
low complexity region 1036 1049 N/A INTRINSIC
internal_repeat_2 1061 1298 1.62e-6 PROSPERO
internal_repeat_2 1299 1515 1.62e-6 PROSPERO
low complexity region 1516 1527 N/A INTRINSIC
coiled coil region 1712 1749 N/A INTRINSIC
low complexity region 1834 1848 N/A INTRINSIC
low complexity region 1969 1980 N/A INTRINSIC
low complexity region 2036 2055 N/A INTRINSIC
PDB:3N00|B 2064 2084 4e-7 PDB
low complexity region 2086 2101 N/A INTRINSIC
low complexity region 2157 2168 N/A INTRINSIC
PDB:2OVM|B 2267 2290 2e-8 PDB
low complexity region 2311 2324 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000037575
AA Change: V724A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000038900
Gene: ENSMUSG00000018501
AA Change: V724A

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
low complexity region 461 472 N/A INTRINSIC
coiled coil region 658 695 N/A INTRINSIC
low complexity region 780 794 N/A INTRINSIC
low complexity region 915 926 N/A INTRINSIC
low complexity region 982 1001 N/A INTRINSIC
PDB:3N00|B 1010 1030 2e-7 PDB
low complexity region 1032 1047 N/A INTRINSIC
low complexity region 1102 1113 N/A INTRINSIC
PDB:2OVM|B 1212 1235 2e-8 PDB
low complexity region 1256 1269 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101066
AA Change: V1778A

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098627
Gene: ENSMUSG00000018501
AA Change: V1778A

DomainStartEndE-ValueType
low complexity region 51 74 N/A INTRINSIC
coiled coil region 176 217 N/A INTRINSIC
coiled coil region 302 329 N/A INTRINSIC
low complexity region 349 366 N/A INTRINSIC
SANT 437 485 2.76e-7 SMART
coiled coil region 507 544 N/A INTRINSIC
low complexity region 593 617 N/A INTRINSIC
SANT 624 672 3.29e-14 SMART
low complexity region 710 731 N/A INTRINSIC
low complexity region 771 788 N/A INTRINSIC
low complexity region 888 899 N/A INTRINSIC
low complexity region 987 995 N/A INTRINSIC
low complexity region 1002 1013 N/A INTRINSIC
low complexity region 1036 1049 N/A INTRINSIC
internal_repeat_2 1061 1298 1.62e-6 PROSPERO
internal_repeat_2 1299 1515 1.62e-6 PROSPERO
low complexity region 1516 1527 N/A INTRINSIC
coiled coil region 1712 1749 N/A INTRINSIC
low complexity region 1834 1848 N/A INTRINSIC
low complexity region 1969 1980 N/A INTRINSIC
low complexity region 2036 2055 N/A INTRINSIC
PDB:3N00|B 2064 2084 4e-7 PDB
low complexity region 2086 2101 N/A INTRINSIC
low complexity region 2157 2168 N/A INTRINSIC
PDB:2OVM|B 2267 2290 2e-8 PDB
low complexity region 2311 2324 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101067
AA Change: V1711A

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098628
Gene: ENSMUSG00000018501
AA Change: V1711A

DomainStartEndE-ValueType
low complexity region 51 74 N/A INTRINSIC
coiled coil region 176 217 N/A INTRINSIC
coiled coil region 302 329 N/A INTRINSIC
low complexity region 349 366 N/A INTRINSIC
SANT 437 485 2.76e-7 SMART
coiled coil region 507 544 N/A INTRINSIC
low complexity region 593 617 N/A INTRINSIC
SANT 624 672 3.29e-14 SMART
low complexity region 716 734 N/A INTRINSIC
low complexity region 838 849 N/A INTRINSIC
low complexity region 937 945 N/A INTRINSIC
low complexity region 952 963 N/A INTRINSIC
low complexity region 986 999 N/A INTRINSIC
low complexity region 1448 1459 N/A INTRINSIC
coiled coil region 1645 1682 N/A INTRINSIC
low complexity region 1767 1781 N/A INTRINSIC
low complexity region 1902 1913 N/A INTRINSIC
low complexity region 1969 1988 N/A INTRINSIC
PDB:3N00|B 1997 2017 4e-7 PDB
low complexity region 2019 2034 N/A INTRINSIC
low complexity region 2089 2100 N/A INTRINSIC
PDB:2OVM|B 2199 2222 2e-8 PDB
low complexity region 2243 2256 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131911
Predicted Effect possibly damaging
Transcript: ENSMUST00000155712
AA Change: V1048A

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122654
Gene: ENSMUSG00000018501
AA Change: V1048A

DomainStartEndE-ValueType
low complexity region 26 47 N/A INTRINSIC
low complexity region 87 104 N/A INTRINSIC
low complexity region 204 215 N/A INTRINSIC
low complexity region 303 311 N/A INTRINSIC
low complexity region 318 329 N/A INTRINSIC
low complexity region 352 365 N/A INTRINSIC
low complexity region 785 796 N/A INTRINSIC
coiled coil region 982 1019 N/A INTRINSIC
low complexity region 1104 1118 N/A INTRINSIC
low complexity region 1239 1250 N/A INTRINSIC
low complexity region 1306 1325 N/A INTRINSIC
PDB:3N00|B 1334 1354 3e-7 PDB
low complexity region 1356 1371 N/A INTRINSIC
low complexity region 1427 1438 N/A INTRINSIC
PDB:2OVM|B 1537 1560 2e-8 PDB
low complexity region 1581 1594 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000156740
AA Change: V713A
SMART Domains Protein: ENSMUSP00000125458
Gene: ENSMUSG00000018501
AA Change: V713A

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
low complexity region 451 462 N/A INTRINSIC
coiled coil region 647 684 N/A INTRINSIC
low complexity region 770 784 N/A INTRINSIC
low complexity region 905 916 N/A INTRINSIC
low complexity region 972 991 N/A INTRINSIC
PDB:3N00|B 1000 1020 2e-7 PDB
low complexity region 1022 1037 N/A INTRINSIC
low complexity region 1092 1103 N/A INTRINSIC
PDB:2OVM|B 1202 1225 2e-8 PDB
low complexity region 1246 1259 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161281
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a targeted mutation in this gene exhibit embryonic lethality with erythrocytic, thymocytic and central nervous system development abnormalities. Mice homozygous for a hypomorphic allele exhibit increased thyroid hormone sensitivity under hypothyroid conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G A 6: 92,804,981 (GRCm39) probably benign Het
Brap G A 5: 121,798,881 (GRCm39) V18I probably benign Het
Csmd1 C T 8: 16,048,857 (GRCm39) V2282M probably damaging Het
Flnb A G 14: 7,935,967 (GRCm38) E2269G possibly damaging Het
Gaa A G 11: 119,169,123 (GRCm39) I557V probably benign Het
Gapt T A 13: 110,490,501 (GRCm39) Q54L probably benign Het
Gsdmc A T 15: 63,651,852 (GRCm39) I253N possibly damaging Het
Kcnj3 T A 2: 55,327,216 (GRCm39) S2T possibly damaging Het
Mindy2 T C 9: 70,538,444 (GRCm39) probably benign Het
Nlrp4d A T 7: 10,112,261 (GRCm39) V636D unknown Het
Nphs1 G T 7: 30,159,936 (GRCm39) R82S probably damaging Het
Or10a3m T A 7: 108,313,089 (GRCm39) F164L probably benign Het
Or4x6 A G 2: 89,949,309 (GRCm39) V211A possibly damaging Het
Or6z3 G A 7: 6,463,502 (GRCm39) probably benign Het
Papln T A 12: 83,833,609 (GRCm39) L1175Q probably benign Het
Rab22a T C 2: 173,530,031 (GRCm39) probably benign Het
Rel A G 11: 23,707,035 (GRCm39) Y56H probably damaging Het
Sdc4 A G 2: 164,273,127 (GRCm39) L61P probably damaging Het
Slc1a4 A G 11: 20,264,089 (GRCm39) probably benign Het
Ubr4 T A 4: 139,189,783 (GRCm39) C3989* probably null Het
Zfyve16 A G 13: 92,659,077 (GRCm39) V278A possibly damaging Het
Other mutations in Ncor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Ncor1 APN 11 62,283,354 (GRCm39) missense probably damaging 1.00
IGL01343:Ncor1 APN 11 62,216,312 (GRCm39) critical splice donor site probably null
IGL01392:Ncor1 APN 11 62,231,420 (GRCm39) missense probably damaging 0.99
IGL01402:Ncor1 APN 11 62,231,300 (GRCm39) missense probably damaging 1.00
IGL01714:Ncor1 APN 11 62,225,410 (GRCm39) missense possibly damaging 0.58
IGL01772:Ncor1 APN 11 62,240,173 (GRCm39) intron probably benign
IGL02058:Ncor1 APN 11 62,235,463 (GRCm39) missense probably damaging 1.00
IGL02065:Ncor1 APN 11 62,310,435 (GRCm39) missense possibly damaging 0.95
IGL02073:Ncor1 APN 11 62,249,743 (GRCm39) missense probably damaging 0.99
IGL02176:Ncor1 APN 11 62,220,485 (GRCm39) unclassified probably benign
IGL02288:Ncor1 APN 11 62,240,229 (GRCm39) missense probably benign 0.01
IGL02348:Ncor1 APN 11 62,224,485 (GRCm39) splice site probably benign
IGL02608:Ncor1 APN 11 62,264,040 (GRCm39) missense probably benign 0.07
laggard UTSW 11 62,260,130 (GRCm39) missense probably damaging 1.00
Shortstep UTSW 11 62,225,367 (GRCm39) missense probably damaging 1.00
LCD18:Ncor1 UTSW 11 62,419,782 (GRCm38) critical splice acceptor site probably benign
PIT4382001:Ncor1 UTSW 11 62,235,489 (GRCm39) missense probably damaging 0.96
PIT4576001:Ncor1 UTSW 11 62,224,543 (GRCm39) missense probably damaging 0.99
R0026:Ncor1 UTSW 11 62,329,255 (GRCm39) missense probably damaging 1.00
R0038:Ncor1 UTSW 11 62,283,377 (GRCm39) missense probably damaging 0.99
R0038:Ncor1 UTSW 11 62,283,377 (GRCm39) missense probably damaging 0.99
R0103:Ncor1 UTSW 11 62,233,871 (GRCm39) missense possibly damaging 0.85
R0103:Ncor1 UTSW 11 62,233,871 (GRCm39) missense possibly damaging 0.85
R0144:Ncor1 UTSW 11 62,283,421 (GRCm39) missense probably damaging 1.00
R0427:Ncor1 UTSW 11 62,301,746 (GRCm39) missense probably damaging 1.00
R0501:Ncor1 UTSW 11 62,264,148 (GRCm39) missense possibly damaging 0.73
R0544:Ncor1 UTSW 11 62,224,603 (GRCm39) missense probably damaging 1.00
R0544:Ncor1 UTSW 11 62,224,602 (GRCm39) missense probably damaging 1.00
R0563:Ncor1 UTSW 11 62,234,056 (GRCm39) missense probably damaging 0.97
R1074:Ncor1 UTSW 11 62,283,377 (GRCm39) missense probably damaging 0.99
R1266:Ncor1 UTSW 11 62,224,866 (GRCm39) missense probably damaging 0.98
R1444:Ncor1 UTSW 11 62,294,632 (GRCm39) missense probably damaging 1.00
R1452:Ncor1 UTSW 11 62,225,457 (GRCm39) missense probably damaging 1.00
R1534:Ncor1 UTSW 11 62,269,330 (GRCm39) missense possibly damaging 0.92
R1710:Ncor1 UTSW 11 62,313,831 (GRCm39) missense probably damaging 1.00
R1762:Ncor1 UTSW 11 62,275,610 (GRCm39) missense possibly damaging 0.82
R1771:Ncor1 UTSW 11 62,217,938 (GRCm39) missense probably damaging 1.00
R1864:Ncor1 UTSW 11 62,272,245 (GRCm39) missense probably damaging 1.00
R1902:Ncor1 UTSW 11 62,228,984 (GRCm39) missense probably damaging 1.00
R1906:Ncor1 UTSW 11 62,240,211 (GRCm39) missense possibly damaging 0.81
R2009:Ncor1 UTSW 11 62,216,427 (GRCm39) missense probably benign 0.43
R3708:Ncor1 UTSW 11 62,235,513 (GRCm39) missense probably damaging 1.00
R3825:Ncor1 UTSW 11 62,264,183 (GRCm39) missense probably benign 0.00
R3923:Ncor1 UTSW 11 62,216,442 (GRCm39) missense probably damaging 1.00
R3966:Ncor1 UTSW 11 62,235,583 (GRCm39) missense probably damaging 1.00
R4049:Ncor1 UTSW 11 62,220,494 (GRCm39) splice site probably null
R4350:Ncor1 UTSW 11 62,301,644 (GRCm39) critical splice donor site probably null
R4351:Ncor1 UTSW 11 62,301,644 (GRCm39) critical splice donor site probably null
R4359:Ncor1 UTSW 11 62,249,736 (GRCm39) missense probably damaging 1.00
R4712:Ncor1 UTSW 11 62,235,660 (GRCm39) missense probably damaging 1.00
R4723:Ncor1 UTSW 11 62,269,438 (GRCm39) missense probably benign 0.26
R4863:Ncor1 UTSW 11 62,283,464 (GRCm39) missense possibly damaging 0.92
R4875:Ncor1 UTSW 11 62,324,437 (GRCm39) small deletion probably benign
R4956:Ncor1 UTSW 11 62,231,431 (GRCm39) missense probably damaging 1.00
R4993:Ncor1 UTSW 11 62,234,167 (GRCm39) missense probably damaging 1.00
R5079:Ncor1 UTSW 11 62,236,063 (GRCm39) missense possibly damaging 0.92
R5144:Ncor1 UTSW 11 62,240,290 (GRCm39) missense probably damaging 1.00
R5223:Ncor1 UTSW 11 62,229,826 (GRCm39) missense probably damaging 1.00
R5243:Ncor1 UTSW 11 62,229,788 (GRCm39) missense probably damaging 1.00
R5271:Ncor1 UTSW 11 62,231,371 (GRCm39) missense probably damaging 1.00
R5285:Ncor1 UTSW 11 62,283,475 (GRCm39) missense probably damaging 1.00
R5533:Ncor1 UTSW 11 62,233,837 (GRCm39) missense probably benign 0.00
R5580:Ncor1 UTSW 11 62,280,604 (GRCm39) nonsense probably null
R5593:Ncor1 UTSW 11 62,260,130 (GRCm39) missense probably damaging 1.00
R5609:Ncor1 UTSW 11 62,249,679 (GRCm39) splice site probably null
R5632:Ncor1 UTSW 11 62,229,060 (GRCm39) missense possibly damaging 0.85
R5830:Ncor1 UTSW 11 62,235,589 (GRCm39) missense possibly damaging 0.71
R5896:Ncor1 UTSW 11 62,274,016 (GRCm39) missense probably damaging 1.00
R5973:Ncor1 UTSW 11 62,240,136 (GRCm39) splice site probably null
R6013:Ncor1 UTSW 11 62,211,903 (GRCm39) missense probably benign
R6019:Ncor1 UTSW 11 62,263,987 (GRCm39) missense probably benign 0.00
R6032:Ncor1 UTSW 11 62,264,147 (GRCm39) missense possibly damaging 0.54
R6032:Ncor1 UTSW 11 62,264,147 (GRCm39) missense possibly damaging 0.54
R6075:Ncor1 UTSW 11 62,208,675 (GRCm39) missense probably damaging 1.00
R6091:Ncor1 UTSW 11 62,310,443 (GRCm39) missense probably damaging 0.98
R6248:Ncor1 UTSW 11 62,257,808 (GRCm39) missense probably damaging 1.00
R6281:Ncor1 UTSW 11 62,264,371 (GRCm39) missense possibly damaging 0.71
R6351:Ncor1 UTSW 11 62,264,124 (GRCm39) missense probably benign 0.30
R6469:Ncor1 UTSW 11 62,234,128 (GRCm39) missense probably damaging 1.00
R6502:Ncor1 UTSW 11 62,272,240 (GRCm39) nonsense probably null
R6614:Ncor1 UTSW 11 62,221,645 (GRCm39) missense probably benign 0.01
R6650:Ncor1 UTSW 11 62,225,367 (GRCm39) missense probably damaging 1.00
R6765:Ncor1 UTSW 11 62,264,272 (GRCm39) missense probably benign 0.01
R6852:Ncor1 UTSW 11 62,234,071 (GRCm39) missense probably damaging 0.97
R6909:Ncor1 UTSW 11 62,220,312 (GRCm39) missense probably damaging 1.00
R6965:Ncor1 UTSW 11 62,244,059 (GRCm39) critical splice donor site probably null
R7054:Ncor1 UTSW 11 62,275,619 (GRCm39) missense probably null
R7248:Ncor1 UTSW 11 62,275,598 (GRCm39) missense possibly damaging 0.89
R7352:Ncor1 UTSW 11 62,224,737 (GRCm39) missense probably damaging 0.99
R7396:Ncor1 UTSW 11 62,234,044 (GRCm39) missense probably damaging 0.99
R7434:Ncor1 UTSW 11 62,274,025 (GRCm39) missense probably damaging 0.99
R7552:Ncor1 UTSW 11 62,264,250 (GRCm39) missense possibly damaging 0.53
R7565:Ncor1 UTSW 11 62,292,091 (GRCm39) missense probably damaging 1.00
R7575:Ncor1 UTSW 11 62,274,082 (GRCm39) missense probably benign 0.21
R7622:Ncor1 UTSW 11 62,208,794 (GRCm39) missense probably benign 0.00
R7664:Ncor1 UTSW 11 62,289,154 (GRCm39) missense probably damaging 1.00
R7814:Ncor1 UTSW 11 62,224,752 (GRCm39) missense probably damaging 0.99
R7963:Ncor1 UTSW 11 62,225,359 (GRCm39) missense probably benign 0.28
R7990:Ncor1 UTSW 11 62,240,321 (GRCm39) critical splice acceptor site probably null
R8302:Ncor1 UTSW 11 62,224,681 (GRCm39) missense probably benign 0.00
R8334:Ncor1 UTSW 11 62,274,070 (GRCm39) missense probably damaging 0.99
R8512:Ncor1 UTSW 11 62,324,437 (GRCm39) small deletion probably benign
R8728:Ncor1 UTSW 11 62,221,685 (GRCm39) missense probably benign 0.04
R8777:Ncor1 UTSW 11 62,324,494 (GRCm39) missense probably damaging 1.00
R8777:Ncor1 UTSW 11 62,324,492 (GRCm39) missense probably benign 0.03
R8777-TAIL:Ncor1 UTSW 11 62,324,494 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Ncor1 UTSW 11 62,324,492 (GRCm39) missense probably benign 0.03
R8821:Ncor1 UTSW 11 62,260,234 (GRCm39) missense probably benign 0.07
R8831:Ncor1 UTSW 11 62,260,234 (GRCm39) missense probably benign 0.07
R8988:Ncor1 UTSW 11 62,233,871 (GRCm39) nonsense probably null
R9111:Ncor1 UTSW 11 62,280,585 (GRCm39) missense possibly damaging 0.95
R9147:Ncor1 UTSW 11 62,224,672 (GRCm39) missense probably damaging 1.00
R9391:Ncor1 UTSW 11 62,216,376 (GRCm39) nonsense probably null
R9467:Ncor1 UTSW 11 62,324,448 (GRCm39) small insertion probably benign
R9467:Ncor1 UTSW 11 62,324,437 (GRCm39) small insertion probably benign
R9510:Ncor1 UTSW 11 62,324,442 (GRCm39) small insertion probably benign
R9511:Ncor1 UTSW 11 62,324,449 (GRCm39) small insertion probably benign
R9560:Ncor1 UTSW 11 62,263,948 (GRCm39) missense possibly damaging 0.96
R9687:Ncor1 UTSW 11 62,260,193 (GRCm39) missense possibly damaging 0.93
X0065:Ncor1 UTSW 11 62,249,817 (GRCm39) missense probably benign 0.23
X0065:Ncor1 UTSW 11 62,245,395 (GRCm39) critical splice donor site probably null
Z1176:Ncor1 UTSW 11 62,329,342 (GRCm39) critical splice acceptor site probably null
Posted On 2014-05-07