Incidental Mutation 'R1146:Frg1'
ID 165112
Institutional Source Beutler Lab
Gene Symbol Frg1
Ensembl Gene ENSMUSG00000031590
Gene Name FSHD region gene 1
Synonyms
MMRRC Submission 039219-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R1146 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41850496-41870111 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 41864254 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
  • 1x: 99.6%
  • 3x: 98.5%
  • 10x: 95.4%
  • 20x: 88.7%
Validation Efficiency 98% (44/45)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,679,795 (GRCm39) V1848E probably damaging Het
Alpk3 A G 7: 80,727,343 (GRCm39) K158E probably damaging Het
Arrdc4 T A 7: 68,389,756 (GRCm39) E356D probably damaging Het
Asb4 A G 6: 5,423,591 (GRCm39) N246S probably damaging Het
Ccdc150 A T 1: 54,404,130 (GRCm39) probably benign Het
Ctsj G A 13: 61,150,312 (GRCm39) P230L probably benign Het
Dync1i2 C T 2: 71,058,164 (GRCm39) probably benign Het
Eme1 A G 11: 94,536,277 (GRCm39) L564P probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fzd2 A T 11: 102,496,206 (GRCm39) S217C possibly damaging Het
Gaa G T 11: 119,165,730 (GRCm39) R81L probably damaging Het
Gfral A G 9: 76,074,341 (GRCm39) V368A probably benign Het
Gm10774 T C 2: 126,551,392 (GRCm39) Y29C probably benign Het
Gucy1a2 T A 9: 3,759,830 (GRCm39) N545K probably damaging Het
Herc2 T C 7: 55,796,444 (GRCm39) S1939P probably benign Het
Ifnk T C 4: 35,152,231 (GRCm39) I53T probably benign Het
Iqub G A 6: 24,505,627 (GRCm39) L94F possibly damaging Het
Kpna1 C T 16: 35,853,749 (GRCm39) R460* probably null Het
Masp1 T C 16: 23,310,865 (GRCm39) E189G probably damaging Het
Mogat1 A G 1: 78,500,250 (GRCm39) I105V probably benign Het
Mpi A G 9: 57,452,472 (GRCm39) probably benign Het
Msh2 C A 17: 87,987,488 (GRCm39) D209E probably benign Het
Nsf G A 11: 103,719,364 (GRCm39) T646I probably damaging Het
Or10g9b A T 9: 39,917,390 (GRCm39) V285D possibly damaging Het
Or4c10b C T 2: 89,711,550 (GRCm39) P127S probably damaging Het
Or5b24 T A 19: 12,912,329 (GRCm39) S76T possibly damaging Het
Or6b2 G A 1: 92,407,612 (GRCm39) H244Y probably damaging Het
Otogl T A 10: 107,722,374 (GRCm39) I327F probably damaging Het
Pappa2 T C 1: 158,682,552 (GRCm39) D832G probably damaging Het
Pax5 G T 4: 44,697,512 (GRCm39) probably benign Het
Pfkfb4 A G 9: 108,836,794 (GRCm39) E163G probably benign Het
Phc1 T C 6: 122,300,416 (GRCm39) probably benign Het
Piwil1 T C 5: 128,824,957 (GRCm39) S552P probably benign Het
Ppfia3 A C 7: 45,001,639 (GRCm39) D424E probably benign Het
Prss16 A G 13: 22,191,138 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbsn A G 6: 92,178,711 (GRCm39) probably null Het
Rexo1 C T 10: 80,380,239 (GRCm39) S919N probably benign Het
Sec31a T C 5: 100,510,032 (GRCm39) N1152D probably damaging Het
Sel1l3 A T 5: 53,274,445 (GRCm39) F1012I possibly damaging Het
Sema4c A G 1: 36,589,646 (GRCm39) V539A probably benign Het
Sf3b5 A G 10: 12,884,575 (GRCm39) E70G possibly damaging Het
Tmcc2 TTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGC 1: 132,285,493 (GRCm39) probably benign Het
Tor1aip2 T C 1: 155,940,483 (GRCm39) V263A possibly damaging Het
Unc45b A G 11: 82,813,733 (GRCm39) E380G probably damaging Het
Usp16 C T 16: 87,271,536 (GRCm39) T364M possibly damaging Het
Wwox T C 8: 115,438,776 (GRCm39) S281P probably damaging Het
Zfp110 A G 7: 12,580,721 (GRCm39) probably null Het
Zfp335 G A 2: 164,738,043 (GRCm39) A856V probably benign Het
Zfp652 G A 11: 95,640,608 (GRCm39) E178K possibly damaging Het
Other mutations in Frg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01541:Frg1 APN 8 41,863,362 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACTCTTTGTGGTGCTTCCTTGTAGACTA -3'
(R):5'- GGTAAACCAGCTATCTCTGCATTCAGAC -3'

Sequencing Primer
(F):5'- ttctctgtgccgccctg -3'
(R):5'- TTAGCTATAGGAAAAGCAACAGAGC -3'
Posted On 2014-03-28