Incidental Mutation 'IGL01562:Frg1'
ID90864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frg1
Ensembl Gene ENSMUSG00000031590
Gene NameFSHD region gene 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL01562
Quality Score
Status
Chromosome8
Chromosomal Location41397459-41417074 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41416909 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 18 (K18R)
Ref Sequence ENSEMBL: ENSMUSP00000033999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033999]
PDB Structure
Solution structure of mouse FRG1 protein [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033999
AA Change: K18R

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033999
Gene: ENSMUSG00000031590
AA Change: K18R

DomainStartEndE-ValueType
low complexity region 20 38 N/A INTRINSIC
Pfam:FRG1 67 256 4.2e-82 PFAM
Pfam:Fascin 92 180 3.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210873
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 maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Crym A G 7: 120,195,399 V199A probably damaging Het
Dsel T C 1: 111,860,319 T829A probably benign Het
H2-M10.5 A G 17: 36,773,776 S131G possibly damaging Het
Ift172 A T 5: 31,267,247 I701N probably damaging Het
Il5ra T C 6: 106,731,904 I292V probably benign Het
Nup98 A G 7: 102,185,918 S243P probably damaging Het
Pramef25 A G 4: 143,950,865 L48S probably damaging Het
Ptgis T C 2: 167,206,830 Y422C probably damaging Het
Senp2 T C 16: 22,009,687 C16R probably damaging Het
St7 T A 6: 17,922,035 L411Q probably damaging Het
Tanc2 A T 11: 105,780,069 Y164F probably benign Het
Ttc23l T C 15: 10,551,390 probably benign Het
Vmn2r66 G T 7: 85,007,287 Q174K probably benign Het
Wrap73 A G 4: 154,145,337 E55G possibly damaging Het
Other mutations in Frg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01541:Frg1 APN 8 41410325 splice site probably benign
IGL03148:Frg1 APN 8 41411284 missense probably benign 0.00
R0180:Frg1 UTSW 8 41399068 critical splice acceptor site probably null
R1146:Frg1 UTSW 8 41411217 splice site probably benign
R2427:Frg1 UTSW 8 41414866 missense probably damaging 1.00
R3861:Frg1 UTSW 8 41407783 splice site probably null
R4672:Frg1 UTSW 8 41400809 missense probably benign 0.30
R5981:Frg1 UTSW 8 41410270 missense possibly damaging 0.93
R7672:Frg1 UTSW 8 41417003 start gained probably benign
Z1176:Frg1 UTSW 8 41399638 nonsense probably null
Posted On2013-12-09