Incidental Mutation 'R2427:Frg1'
ID 250278
Institutional Source Beutler Lab
Gene Symbol Frg1
Ensembl Gene ENSMUSG00000031590
Gene Name FSHD region gene 1
Synonyms
MMRRC Submission 040389-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R2427 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41850496-41870111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41867903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 24 (K24E)
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 damaging
Transcript: ENSMUST00000033999
AA Change: K24E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033999
Gene: ENSMUSG00000031590
AA Change: K24E

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
Meta Mutation Damage Score 0.0757 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy1 A G 1: 92,798,529 (GRCm39) probably null Het
Atp2a1 T A 7: 126,045,755 (GRCm39) *995L probably null Het
Axin2 T A 11: 108,814,800 (GRCm39) N229K possibly damaging Het
Capn13 A T 17: 73,633,312 (GRCm39) probably benign Het
Ccdc180 A G 4: 45,929,545 (GRCm39) I1202V probably benign Het
Cep295 A G 9: 15,245,534 (GRCm39) L974P probably damaging Het
Cers3 T C 7: 66,445,541 (GRCm39) Y321H probably benign Het
Chrnb4 T C 9: 54,942,101 (GRCm39) Y391C probably benign Het
Ciao1 T C 2: 127,088,611 (GRCm39) H104R probably damaging Het
Cldn4 A T 5: 134,975,331 (GRCm39) V90E probably damaging Het
Crbn T C 6: 106,760,433 (GRCm39) E253G probably damaging Het
Ctns A G 11: 73,087,512 (GRCm39) W5R probably damaging Het
Eme1 G A 11: 94,541,801 (GRCm39) probably benign Het
Fat2 T A 11: 55,201,638 (GRCm39) T479S probably benign Het
Fbxw25 T C 9: 109,481,928 (GRCm39) N253D probably benign Het
Fer A G 17: 64,264,298 (GRCm39) I39V probably benign Het
Fmnl2 A G 2: 53,006,991 (GRCm39) M768V probably damaging Het
I830077J02Rik G T 3: 105,835,320 (GRCm39) A19D probably damaging Het
Ighv1-20 C T 12: 114,687,692 (GRCm39) silent Het
Igsf9 A G 1: 172,318,306 (GRCm39) S149G probably damaging Het
Klra10 T A 6: 130,256,298 (GRCm39) I119F probably benign Het
Lrrc4b T A 7: 44,111,976 (GRCm39) I616N probably damaging Het
Lrrc71 T C 3: 87,653,309 (GRCm39) T64A probably benign Het
Ly9 A T 1: 171,434,800 (GRCm39) I31N probably damaging Het
Mef2a A G 7: 66,915,808 (GRCm39) S165P probably damaging Het
Nol4 T G 18: 22,983,755 (GRCm39) probably benign Het
Nt5el T C 13: 105,246,269 (GRCm39) F277L probably benign Het
Plxnd1 C T 6: 115,944,709 (GRCm39) probably null Het
Rab27b T C 18: 70,129,205 (GRCm39) T30A probably damaging Het
Rasa4 A G 5: 136,130,881 (GRCm39) D384G probably benign Het
Slx4 G A 16: 3,806,851 (GRCm39) L531F probably damaging Het
Tafa4 C T 6: 96,991,328 (GRCm39) probably benign Het
Tgm1 C T 14: 55,949,557 (GRCm39) probably null Het
Tpm2 T C 4: 43,523,306 (GRCm39) N17D probably damaging Het
Tyrp1 A G 4: 80,769,108 (GRCm39) T134A probably benign Het
Zfand6 T A 7: 84,283,498 (GRCm39) K35* probably null Het
Zfp648 G A 1: 154,080,819 (GRCm39) C326Y probably 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
R1146:Frg1 UTSW 8 41,864,254 (GRCm39) splice site probably benign
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'- GCAAGTGAGAATTATAGGAACCTC -3'
(R):5'- ATTTCTCTTGGATATCTGCGCG -3'

Sequencing Primer
(F):5'- TGTCACCAATGCTCTGGAG -3'
(R):5'- TTGGATATCTGCGCGCACAC -3'
Posted On 2014-11-12