Incidental Mutation 'IGL02624:Ncoa5'
ID300988
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncoa5
Ensembl Gene ENSMUSG00000039804
Gene Namenuclear receptor coactivator 5
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02624
Quality Score
Status
Chromosome2
Chromosomal Location165000357-165034867 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 165013061 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 47 (D47V)
Ref Sequence ENSEMBL: ENSMUSP00000046388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040381] [ENSMUST00000121377] [ENSMUST00000122070] [ENSMUST00000153905]
Predicted Effect probably damaging
Transcript: ENSMUST00000040381
AA Change: D47V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046388
Gene: ENSMUSG00000039804
AA Change: D47V

DomainStartEndE-ValueType
low complexity region 46 79 N/A INTRINSIC
low complexity region 82 104 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
coiled coil region 163 190 N/A INTRINSIC
SCOP:d1kmma1 195 287 2e-9 SMART
PDB:1V95|A 197 314 3e-79 PDB
low complexity region 324 340 N/A INTRINSIC
low complexity region 367 376 N/A INTRINSIC
low complexity region 395 427 N/A INTRINSIC
low complexity region 440 460 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121377
SMART Domains Protein: ENSMUSP00000113872
Gene: ENSMUSG00000039804

DomainStartEndE-ValueType
PDB:1V95|A 1 34 2e-15 PDB
low complexity region 44 60 N/A INTRINSIC
low complexity region 87 96 N/A INTRINSIC
low complexity region 115 147 N/A INTRINSIC
low complexity region 160 180 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000122070
AA Change: D47V
SMART Domains Protein: ENSMUSP00000113166
Gene: ENSMUSG00000039804
AA Change: D47V

DomainStartEndE-ValueType
low complexity region 46 79 N/A INTRINSIC
low complexity region 82 104 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
coiled coil region 163 190 N/A INTRINSIC
SCOP:d1kmma1 195 287 1e-8 SMART
PDB:1V95|A 197 314 2e-80 PDB
low complexity region 324 340 N/A INTRINSIC
low complexity region 367 376 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127545
Predicted Effect unknown
Transcript: ENSMUST00000153905
AA Change: D47V
SMART Domains Protein: ENSMUSP00000116778
Gene: ENSMUSG00000039804
AA Change: D47V

DomainStartEndE-ValueType
low complexity region 46 68 N/A INTRINSIC
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 coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2017]
PHENOTYPE: Male mice heterozygous for a knock-out allele exhibit infertility, impaired glucose homeostasis, liver dysplasia and HCC. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik A G 2: 18,027,193 V38A unknown Het
Armc8 T C 9: 99,527,069 probably benign Het
Brk1 T G 6: 113,604,844 I22M possibly damaging Het
Cd3g A G 9: 44,974,161 probably null Het
Cep192 T C 18: 67,880,795 V2422A probably benign Het
Ces2g T C 8: 104,964,748 V172A probably damaging Het
Clcn2 G T 16: 20,703,348 S830R probably damaging Het
Cyp26b1 T C 6: 84,584,339 S114G probably benign Het
Dnali1 T C 4: 125,058,998 Q244R probably benign Het
Entpd1 A T 19: 40,726,058 K204* probably null Het
Gm5070 A G 3: 95,410,908 noncoding transcript Het
Gpsm2 G T 3: 108,682,033 D596E probably benign Het
Hectd1 C T 12: 51,762,450 A1743T possibly damaging Het
Kcnq5 T G 1: 21,402,430 L845F probably benign Het
Lmx1a G T 1: 167,844,623 probably benign Het
Lrp1 A T 10: 127,572,422 I1795N probably damaging Het
Lsp1 C T 7: 142,490,551 probably benign Het
Mcm6 C T 1: 128,349,448 A213T possibly damaging Het
Mylk G T 16: 34,929,896 V1202L probably benign Het
Myo5b T C 18: 74,714,939 Y1083H probably damaging Het
Npat C T 9: 53,566,810 T954I probably damaging Het
Olfr1367 A G 13: 21,347,512 T195A probably benign Het
Olfr491 A T 7: 108,316,923 T10S probably benign Het
Pfkm T C 15: 98,126,395 I428T probably benign Het
Rai1 T C 11: 60,188,743 F1211S probably damaging Het
Reln T C 5: 22,103,357 E338G probably benign Het
Tbx18 T C 9: 87,727,406 Y192C probably damaging Het
Tex21 T A 12: 76,214,624 D250V probably damaging Het
Tpo A G 12: 30,100,414 V489A probably benign Het
Tspo T C 15: 83,571,415 M1T probably null Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnk2 C T 13: 49,102,802 G281D probably damaging Het
Zfhx2 T C 14: 55,066,628 T1300A probably benign Het
Other mutations in Ncoa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02285:Ncoa5 APN 2 165002840 missense probably damaging 1.00
R0383:Ncoa5 UTSW 2 165009390 missense possibly damaging 0.67
R0835:Ncoa5 UTSW 2 165002794 missense probably damaging 1.00
R1667:Ncoa5 UTSW 2 165001703 missense probably damaging 1.00
R2110:Ncoa5 UTSW 2 165012918 missense possibly damaging 0.59
R4887:Ncoa5 UTSW 2 165002150 missense probably damaging 1.00
R5100:Ncoa5 UTSW 2 165009389 missense probably damaging 0.99
R5631:Ncoa5 UTSW 2 165013121 missense possibly damaging 0.90
R6616:Ncoa5 UTSW 2 165010563 nonsense probably null
R6737:Ncoa5 UTSW 2 165002135 missense probably damaging 1.00
R7015:Ncoa5 UTSW 2 165002081 missense probably benign 0.02
R7567:Ncoa5 UTSW 2 165004251 missense possibly damaging 0.83
R7840:Ncoa5 UTSW 2 165012896 missense possibly damaging 0.66
R7923:Ncoa5 UTSW 2 165012896 missense possibly damaging 0.66
Posted On2015-04-16