Incidental Mutation 'IGL01541:Frg1'
ID 90177
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frg1
Ensembl Gene ENSMUSG00000031590
Gene Name FSHD region gene 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL01541
Quality Score
Status
Chromosome 8
Chromosomal Location 41850496-41870111 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 41863362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033999]
AlphaFold P97376
PDB Structure Solution structure of mouse FRG1 protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000033999
SMART Domains Protein: ENSMUSP00000033999
Gene: ENSMUSG00000031590

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,875,169 (GRCm39) H668Y probably benign Het
Adamts10 A G 17: 33,762,205 (GRCm39) S505G probably benign Het
Ahnak C T 19: 8,985,243 (GRCm39) H2176Y possibly damaging Het
Ash1l G T 3: 88,973,572 (GRCm39) D2544Y probably damaging Het
Ccdc88a T A 11: 29,350,283 (GRCm39) F88L probably benign Het
Cdc42bpa A T 1: 179,978,723 (GRCm39) probably null Het
Celsr3 T C 9: 108,708,907 (GRCm39) V1251A probably damaging Het
CN725425 T A 15: 91,129,955 (GRCm39) F273I possibly damaging Het
Eif2b1 A G 5: 124,714,965 (GRCm39) C104R probably damaging Het
Ercc3 A T 18: 32,381,372 (GRCm39) D396V possibly damaging Het
Fga A T 3: 82,940,014 (GRCm39) D556V probably damaging Het
Fto T C 8: 92,136,376 (GRCm39) Y217H probably damaging Het
Garin4 A T 1: 190,896,606 (GRCm39) Y12* probably null Het
Grin3a A T 4: 49,792,533 (GRCm39) V400E probably damaging Het
Gtse1 T A 15: 85,759,855 (GRCm39) L682* probably null Het
Igkv6-32 A G 6: 70,051,290 (GRCm39) I22T probably benign Het
Lama1 G A 17: 68,092,065 (GRCm39) R1646H probably benign Het
Lamp1 T C 8: 13,215,905 (GRCm39) C35R probably damaging Het
Lzts3 A T 2: 130,478,126 (GRCm39) L324Q probably damaging Het
Muc6 T A 7: 141,236,069 (GRCm39) R453* probably null Het
Naa35 T A 13: 59,748,777 (GRCm39) H132Q probably damaging Het
Pgm5 C A 19: 24,793,777 (GRCm39) G296W probably damaging Het
Pkd1 T A 17: 24,805,272 (GRCm39) C3275S probably damaging Het
Podxl2 A G 6: 88,826,331 (GRCm39) L325P probably benign Het
Prom2 A G 2: 127,371,050 (GRCm39) probably null Het
Rab12 T C 17: 66,804,404 (GRCm39) S185G probably damaging Het
Rnf43 T G 11: 87,621,046 (GRCm39) M313R probably null Het
Rusc2 T C 4: 43,415,840 (GRCm39) V382A probably benign Het
Sbno1 A T 5: 124,516,618 (GRCm39) probably benign Het
Smg6 T C 11: 74,816,770 (GRCm39) I10T probably benign Het
Smpd1 T C 7: 105,205,033 (GRCm39) F304S possibly damaging Het
Spta1 G A 1: 174,044,725 (GRCm39) V1454I probably benign Het
Tdrd7 A T 4: 46,018,551 (GRCm39) I722F possibly damaging Het
Topors T C 4: 40,262,364 (GRCm39) T307A possibly damaging Het
Ttn C T 2: 76,807,502 (GRCm39) R77Q probably damaging Het
Vmn1r210 C T 13: 23,011,778 (GRCm39) M169I probably benign Het
Zc3h4 A G 7: 16,168,257 (GRCm39) S789G unknown Het
Zfp629 G T 7: 127,211,917 (GRCm39) probably benign Het
Zfp977 C A 7: 42,230,156 (GRCm39) R123I probably benign Het
Other mutations in Frg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01562:Frg1 APN 8 41,869,946 (GRCm39) missense possibly damaging 0.92
IGL03148:Frg1 APN 8 41,864,321 (GRCm39) missense probably benign 0.00
R0180:Frg1 UTSW 8 41,852,105 (GRCm39) critical splice acceptor site probably null
R1146:Frg1 UTSW 8 41,864,254 (GRCm39) splice site probably benign
R2427:Frg1 UTSW 8 41,867,903 (GRCm39) missense probably damaging 1.00
R3861:Frg1 UTSW 8 41,860,820 (GRCm39) splice site probably null
R4672:Frg1 UTSW 8 41,853,846 (GRCm39) missense probably benign 0.30
R5981:Frg1 UTSW 8 41,863,307 (GRCm39) missense possibly damaging 0.93
R7672:Frg1 UTSW 8 41,870,040 (GRCm39) start gained probably benign
Z1176:Frg1 UTSW 8 41,852,675 (GRCm39) nonsense probably null
Posted On 2013-12-03