Incidental Mutation 'IGL01070:Rfng'
ID 52221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfng
Ensembl Gene ENSMUSG00000025158
Gene Name RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonyms radical fringe
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01070
Quality Score
Chromosome 11
Chromosomal Location 120780746-120784207 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120783952 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 71 (N71D)
Ref Sequence ENSEMBL: ENSMUSP00000026156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026156] [ENSMUST00000100134] [ENSMUST00000116305] [ENSMUST00000153678] [ENSMUST00000172809] [ENSMUST00000208737]
AlphaFold O09009
Predicted Effect probably damaging
Transcript: ENSMUST00000026156
AA Change: N71D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026156
Gene: ENSMUSG00000025158
AA Change: N71D

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

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

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

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 (GRCm38) V124I probably damaging Het
Adamts5 T C 16: 85,863,133 (GRCm38) H757R probably damaging Het
Aen G A 7: 78,907,302 (GRCm38) M299I probably damaging Het
Akap3 A T 6: 126,865,879 (GRCm38) E487V possibly damaging Het
Bicd2 T C 13: 49,378,316 (GRCm38) S271P probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm38) S162N probably damaging Het
Cma1 A G 14: 55,942,697 (GRCm38) S71P probably benign Het
Cspp1 T C 1: 10,088,145 (GRCm38) Y494H probably damaging Het
Cyp39a1 A G 17: 43,683,022 (GRCm38) K191R probably benign Het
Efr3a G A 15: 65,853,078 (GRCm38) V507I probably benign Het
Fam178b C T 1: 36,564,403 (GRCm38) R489Q possibly damaging Het
Kcnj4 A G 15: 79,484,579 (GRCm38) L400P probably benign Het
Kif27 A G 13: 58,344,093 (GRCm38) Y411H probably damaging Het
Mstn A T 1: 53,061,997 (GRCm38) I78L possibly damaging Het
Nrap T C 19: 56,329,084 (GRCm38) D1377G probably damaging Het
Pramel5 T G 4: 144,271,272 (GRCm38) Y467S probably damaging Het
Prkg1 G A 19: 30,569,343 (GRCm38) probably benign Het
Rbfox1 A C 16: 7,306,443 (GRCm38) S219R possibly damaging Het
Rp1 T C 1: 4,345,238 (GRCm38) I1884V probably damaging Het
Rptn T A 3: 93,398,176 (GRCm38) Y939N possibly damaging Het
Sart1 A G 19: 5,383,951 (GRCm38) V322A probably benign Het
Shank3 T C 15: 89,549,416 (GRCm38) S1455P probably damaging Het
Smc5 T A 19: 23,231,601 (GRCm38) R703W possibly damaging Het
Sptan1 G A 2: 30,014,173 (GRCm38) probably null Het
Tecta T C 9: 42,395,003 (GRCm38) D43G probably damaging Het
Tmem67 A T 4: 12,054,750 (GRCm38) M685K probably benign Het
Trac A G 14: 54,220,766 (GRCm38) T82A probably benign Het
Trank1 A G 9: 111,366,793 (GRCm38) N1295S probably damaging Het
Ttc36 T C 9: 44,801,590 (GRCm38) probably null Het
Utp18 A T 11: 93,869,848 (GRCm38) S384T possibly damaging Het
Vmn1r64 C A 7: 5,883,942 (GRCm38) A201S probably benign Het
Vmn2r26 A T 6: 124,061,607 (GRCm38) I714F probably benign Het
Vps54 T A 11: 21,312,268 (GRCm38) V626D probably damaging Het
Wapl T C 14: 34,745,622 (GRCm38) probably benign Het
Yars2 C T 16: 16,306,542 (GRCm38) R338* probably null Het
Other mutations in Rfng
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01073:Rfng APN 11 120,783,921 (GRCm38) missense probably benign 0.01
IGL01748:Rfng APN 11 120,783,743 (GRCm38) missense probably benign 0.00
R1533:Rfng UTSW 11 120,781,861 (GRCm38) nonsense probably null
R2697:Rfng UTSW 11 120,784,039 (GRCm38) unclassified probably benign
R4169:Rfng UTSW 11 120,783,946 (GRCm38) missense probably benign 0.10
R4401:Rfng UTSW 11 120,782,480 (GRCm38) missense possibly damaging 0.94
R4613:Rfng UTSW 11 120,782,650 (GRCm38) missense probably damaging 1.00
R4738:Rfng UTSW 11 120,783,964 (GRCm38) missense probably damaging 1.00
R5015:Rfng UTSW 11 120,783,050 (GRCm38) missense probably damaging 0.98
R5703:Rfng UTSW 11 120,782,016 (GRCm38) missense probably benign 0.40
R6191:Rfng UTSW 11 120,782,690 (GRCm38) missense probably damaging 1.00
R8345:Rfng UTSW 11 120,784,075 (GRCm38) missense unknown
R8846:Rfng UTSW 11 120,784,146 (GRCm38) missense unknown
R9316:Rfng UTSW 11 120,784,037 (GRCm38) missense unknown
Posted On 2013-06-21