Incidental Mutation 'IGL01748:Rfng'
ID153076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfng
Ensembl Gene ENSMUSG00000025158
Gene NameRFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonymsradical fringe
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01748
Quality Score
Status
Chromosome11
Chromosomal Location120780746-120784207 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120783743 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 104 (M104T)
Ref Sequence ENSEMBL: ENSMUSP00000026156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026156] [ENSMUST00000100134] [ENSMUST00000116305] [ENSMUST00000153678] [ENSMUST00000172809] [ENSMUST00000208737]
Predicted Effect probably benign
Transcript: ENSMUST00000026156
AA Change: M104T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026156
Gene: ENSMUSG00000025158
AA Change: M104T

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Fringe 54 306 1.1e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100134
SMART Domains Protein: ENSMUSP00000097711
Gene: ENSMUSG00000025156

DomainStartEndE-ValueType
Pfam:RPN7 123 305 4.9e-78 PFAM
PINT 356 439 5.77e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116305
SMART Domains Protein: ENSMUSP00000112007
Gene: ENSMUSG00000025156

DomainStartEndE-ValueType
Pfam:RPN7 123 305 1.3e-77 PFAM
PINT 356 439 5.77e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144519
Predicted Effect probably benign
Transcript: ENSMUST00000153678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156723
Predicted Effect probably benign
Transcript: ENSMUST00000172809
SMART Domains Protein: ENSMUSP00000133855
Gene: ENSMUSG00000025156

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
low complexity region 37 49 N/A INTRINSIC
Pfam:RPN7 162 344 8.8e-77 PFAM
PINT 395 478 5.77e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208737
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions of this gene display a completely normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,548,357 probably benign Het
Asb1 G A 1: 91,552,286 V236I probably damaging Het
Bod1l G A 5: 41,816,961 R2337C probably benign Het
Fermt3 A T 19: 7,003,466 probably null Het
Foxred2 T C 15: 77,952,346 D323G probably damaging Het
Fry A G 5: 150,345,651 probably benign Het
Galnt11 T A 5: 25,247,515 Y8* probably null Het
Gm42688 T A 6: 83,103,020 S275T possibly damaging Het
Grip2 C T 6: 91,764,743 G934R probably damaging Het
Igkv1-122 G T 6: 68,017,472 V115F possibly damaging Het
Iglon5 C T 7: 43,476,529 probably benign Het
Nbl1 G T 4: 139,083,610 probably benign Het
Nup107 A G 10: 117,757,274 V833A probably benign Het
Olfr1287 T C 2: 111,449,530 L130P probably damaging Het
Psg18 T C 7: 18,353,551 N61D probably benign Het
Scn10a A G 9: 119,627,084 F1224S probably damaging Het
Strn4 C T 7: 16,838,302 P647S probably damaging Het
Tbc1d2 A G 4: 46,616,306 V474A probably damaging Het
Trav13n-4 A T 14: 53,364,013 T80S probably benign Het
Trrap A G 5: 144,833,340 E2757G probably damaging Het
Vmn1r43 G T 6: 89,870,312 T64N probably damaging Het
Vmn2r108 A T 17: 20,463,214 I576N probably benign Het
Vmn2r65 A T 7: 84,940,299 I803N probably damaging Het
Zfp341 T C 2: 154,628,927 V288A probably damaging Het
Other mutations in Rfng
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Rfng APN 11 120783952 missense probably damaging 0.99
IGL01073:Rfng APN 11 120783921 missense probably benign 0.01
R1533:Rfng UTSW 11 120781861 nonsense probably null
R2697:Rfng UTSW 11 120784039 unclassified probably benign
R4169:Rfng UTSW 11 120783946 missense probably benign 0.10
R4401:Rfng UTSW 11 120782480 missense possibly damaging 0.94
R4613:Rfng UTSW 11 120782650 missense probably damaging 1.00
R4738:Rfng UTSW 11 120783964 missense probably damaging 1.00
R5015:Rfng UTSW 11 120783050 missense probably damaging 0.98
R5703:Rfng UTSW 11 120782016 missense probably benign 0.40
R6191:Rfng UTSW 11 120782690 missense probably damaging 1.00
Posted On2014-02-04