Incidental Mutation 'R3861:Frg1'
ID 276352
Institutional Source Beutler Lab
Gene Symbol Frg1
Ensembl Gene ENSMUSG00000031590
Gene Name FSHD region gene 1
Synonyms
MMRRC Submission 040788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R3861 (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 T at 41860820 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 null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (55/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik G A 12: 18,583,411 (GRCm39) S157N probably benign Het
A830018L16Rik T C 1: 11,658,778 (GRCm39) probably benign Het
Akip1 C T 7: 109,306,613 (GRCm39) probably benign Het
Anxa5 T C 3: 36,504,807 (GRCm39) T252A probably benign Het
Arhgef10l A G 4: 140,242,798 (GRCm39) F1072L possibly damaging Het
Armc1 C T 3: 19,189,196 (GRCm39) R186Q probably damaging Het
Atxn2l A T 7: 126,101,123 (GRCm39) probably null Het
Cadps2 A G 6: 23,355,860 (GRCm39) I849T probably damaging Het
Ccdc28a T A 10: 18,100,743 (GRCm39) Q28L probably damaging Het
Cdh4 T A 2: 179,515,890 (GRCm39) V356D probably damaging Het
Chd8 T A 14: 52,474,578 (GRCm39) Q151L probably benign Het
Chgb T A 2: 132,635,064 (GRCm39) H335Q probably damaging Het
Col19a1 G A 1: 24,365,098 (GRCm39) P506S probably damaging Het
Col5a2 T C 1: 45,419,397 (GRCm39) T1228A probably damaging Het
Cpxm2 A G 7: 131,656,648 (GRCm39) V538A probably benign Het
Cramp1 A T 17: 25,216,588 (GRCm39) probably benign Het
Cttnbp2 T C 6: 18,423,832 (GRCm39) R831G probably benign Het
Cyp4f17 A G 17: 32,747,078 (GRCm39) D436G probably damaging Het
Dcaf6 A T 1: 165,256,838 (GRCm39) N48K probably damaging Het
Ddx50 C A 10: 62,478,725 (GRCm39) V154L possibly damaging Het
Dnah9 T C 11: 65,943,820 (GRCm39) probably benign Het
Dnm3 T A 1: 162,138,974 (GRCm39) I395L possibly damaging Het
Elp2 C T 18: 24,739,977 (GRCm39) R68C probably benign Het
Fsip2 G T 2: 82,815,120 (GRCm39) D3618Y probably damaging Het
Gabra2 T C 5: 71,130,886 (GRCm39) D314G probably damaging Het
Gramd1a A C 7: 30,835,365 (GRCm39) D407E possibly damaging Het
Grm5 T A 7: 87,779,202 (GRCm39) S881T possibly damaging Het
Ikbkb T A 8: 23,168,852 (GRCm39) I216F possibly damaging Het
Kif3a T C 11: 53,488,805 (GRCm39) V634A probably benign Het
Ltbp1 A T 17: 75,666,333 (GRCm39) Y1342F possibly damaging Het
Mia2 G T 12: 59,155,807 (GRCm39) V508L probably benign Het
Mtus2 C T 5: 148,250,223 (GRCm39) T155M probably damaging Het
Napepld A T 5: 21,888,287 (GRCm39) V54E probably benign Het
Nlrc4 T C 17: 74,752,616 (GRCm39) E589G probably benign Het
Nphp3 G T 9: 103,916,525 (GRCm39) probably benign Het
Nr2f1 T A 13: 78,343,794 (GRCm39) R10* probably null Het
Nsfl1c C A 2: 151,352,824 (GRCm39) probably null Het
Or14a258 A G 7: 86,035,331 (GRCm39) V179A possibly damaging Het
Pcdhgc3 A G 18: 37,941,581 (GRCm39) T661A probably damaging Het
Pdzrn3 A G 6: 101,149,332 (GRCm39) V332A possibly damaging Het
Pip4p2 A G 4: 14,902,506 (GRCm39) N169S probably damaging Het
Pkhd1 C T 1: 20,271,151 (GRCm39) C3134Y probably damaging Het
Ptprz1 T C 6: 23,036,894 (GRCm39) V1131A probably damaging Het
Rccd1 T C 7: 79,970,116 (GRCm39) E167G probably benign Het
Ror1 T C 4: 100,265,120 (GRCm39) I198T possibly damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Scly C T 1: 91,230,573 (GRCm39) probably benign Het
Scn4a T C 11: 106,216,950 (GRCm39) probably benign Het
Sh3rf2 T C 18: 42,286,384 (GRCm39) S594P probably damaging Het
Slc19a1 G A 10: 76,877,809 (GRCm39) V115M possibly damaging Het
Slc26a6 A T 9: 108,731,395 (GRCm39) probably benign Het
Smg7 C T 1: 152,728,349 (GRCm39) R439K probably null Het
Spata31e3 T C 13: 50,400,887 (GRCm39) K480E probably benign Het
Syne2 A G 12: 76,013,253 (GRCm39) R2815G probably damaging Het
Trim75 G A 8: 65,435,479 (GRCm39) R324C probably damaging Het
Ucp3 T C 7: 100,129,458 (GRCm39) S98P probably benign Het
Zscan29 G C 2: 120,991,212 (GRCm39) R859G probably benign 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
R2427:Frg1 UTSW 8 41,867,903 (GRCm39) missense probably damaging 1.00
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'- GCAACAAGCCACTGTAGTAGTATTG -3'
(R):5'- ACAGATAGAGAATACAGTGTCCAC -3'

Sequencing Primer
(F):5'- AAGCCACTGTAGTAGTATTGTTGTTG -3'
(R):5'- GTCCACTATAAACATATCTGGTCTGG -3'
Posted On 2015-04-06