Incidental Mutation 'IGL00722:Frg2f1'
ID12427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frg2f1
Ensembl Gene ENSMUSG00000087385
Gene NameFSHD region gene 2 family member 1
SynonymsAA415398
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL00722
Quality Score
Status
Chromosome4
Chromosomal Location119530308-119539529 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 119531110 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Lysine at position 64 (R64K)
Ref Sequence ENSEMBL: ENSMUSP00000078560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079611]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079611
AA Change: R64K

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078560
Gene: ENSMUSG00000087385
AA Change: R64K

DomainStartEndE-ValueType
low complexity region 62 72 N/A INTRINSIC
Pfam:FRG2 75 190 4.8e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178059
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 T C 12: 30,897,793 D82G probably damaging Het
Alpk1 A G 3: 127,680,213 S714P probably benign Het
Atp11b T C 3: 35,819,935 I491T probably damaging Het
Hibch T C 1: 52,901,320 V216A probably damaging Het
Mttp C A 3: 138,109,015 V500F possibly damaging Het
Osbpl9 T C 4: 109,072,010 I397V probably damaging Het
Rpusd4 T A 9: 35,268,418 V69D possibly damaging Het
Setd2 T C 9: 110,551,136 S1340P possibly damaging Het
Stk17b T C 1: 53,764,140 S167G probably damaging Het
Strn T C 17: 78,692,420 D129G possibly damaging Het
Wdr44 T C X: 23,732,309 probably benign Het
Zfp558 G T 9: 18,456,521 P324T probably damaging Het
Other mutations in Frg2f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02347:Frg2f1 APN 4 119530732 missense probably damaging 1.00
IGL02458:Frg2f1 APN 4 119530957 missense probably damaging 0.99
R1610:Frg2f1 UTSW 4 119531288 missense possibly damaging 0.91
R1842:Frg2f1 UTSW 4 119531080 missense possibly damaging 0.59
R3872:Frg2f1 UTSW 4 119530958 missense possibly damaging 0.95
R5080:Frg2f1 UTSW 4 119531033 missense possibly damaging 0.95
R6870:Frg2f1 UTSW 4 119531132 missense probably benign 0.03
R7473:Frg2f1 UTSW 4 119530793 missense probably benign 0.16
Posted On2012-12-06