Incidental Mutation 'R8846:Rfng'
ID 674713
Institutional Source Beutler Lab
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 # R8846 (G1)
Quality Score 178.009
Status Not validated
Chromosome 11
Chromosomal Location 120671572-120675033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120674972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 6 (R6L)
Ref Sequence ENSEMBL: ENSMUSP00000026156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026156] [ENSMUST00000100134] [ENSMUST00000116305] [ENSMUST00000153678] [ENSMUST00000172809] [ENSMUST00000208737]
AlphaFold O09009
Predicted Effect unknown
Transcript: ENSMUST00000026156
AA Change: R6L
SMART Domains Protein: ENSMUSP00000026156
Gene: ENSMUSG00000025158
AA Change: R6L

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 probably benign
Transcript: ENSMUST00000153678
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,551,610 (GRCm39) I1198F possibly damaging Het
Adgrv1 C T 13: 81,637,025 (GRCm39) probably null Het
Adprh T C 16: 38,267,775 (GRCm39) H170R probably damaging Het
Arhgef10 T C 8: 15,025,956 (GRCm39) V820A probably benign Het
B3galt1 A G 2: 67,948,717 (GRCm39) D144G probably benign Het
Ccdc88a C T 11: 29,414,185 (GRCm39) R908C probably damaging Het
Ccs A G 19: 4,883,480 (GRCm39) L106P probably damaging Het
Dock10 T C 1: 80,545,786 (GRCm39) D820G possibly damaging Het
Gda A G 19: 21,389,889 (GRCm39) I298T probably damaging Het
Gpr84 A T 15: 103,218,037 (GRCm39) H13Q possibly damaging Het
Igdcc4 T C 9: 65,037,898 (GRCm39) S760P probably benign Het
Ighv1-53 A C 12: 115,122,165 (GRCm39) I70S probably damaging Het
Itpr3 T A 17: 27,330,996 (GRCm39) I1768N probably damaging Het
Kctd13 C A 7: 126,544,191 (GRCm39) D296E probably benign Het
Krt76 A G 15: 101,795,772 (GRCm39) I466T probably damaging Het
Lamb1 T C 12: 31,379,388 (GRCm39) Y1801H possibly damaging Het
Mapk10 A G 5: 103,144,521 (GRCm39) F129L probably damaging Het
Myo5b G A 18: 74,841,043 (GRCm39) E975K probably benign Het
Nrtn C T 17: 57,058,728 (GRCm39) R91H possibly damaging Het
Olfml2a A T 2: 38,850,255 (GRCm39) Y657F probably damaging Het
Or1j21 T A 2: 36,683,689 (GRCm39) V147E probably benign Het
Or4d10c T C 19: 12,065,433 (GRCm39) H241R probably damaging Het
Pfkfb2 T C 1: 130,625,648 (GRCm39) T511A probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkhd1l1 G T 15: 44,410,358 (GRCm39) G2622* probably null Het
Ppp6r3 A T 19: 3,564,654 (GRCm39) D206E probably damaging Het
Ptpn3 A G 4: 57,205,020 (GRCm39) Y714H probably damaging Het
Scrt1 A T 15: 76,405,808 (GRCm39) V33E possibly damaging Het
Siglecg A T 7: 43,061,942 (GRCm39) I563F probably benign Het
Slc1a6 G A 10: 78,637,781 (GRCm39) A436T probably damaging Het
Slc38a9 C A 13: 112,859,814 (GRCm39) S416* probably null Het
Sptbn1 A G 11: 30,075,009 (GRCm39) S1288P possibly damaging Het
Tbce A G 13: 14,194,285 (GRCm39) probably null Het
Tdpoz8 A T 3: 92,981,770 (GRCm39) I189F possibly damaging Het
Topors A G 4: 40,262,952 (GRCm39) F111L probably damaging Het
Vmn1r11 T C 6: 57,114,807 (GRCm39) M157T probably benign Het
Wdfy4 A G 14: 32,867,105 (GRCm39) L459P Het
Zfp738 T C 13: 67,818,155 (GRCm39) N612S probably benign Het
Other mutations in Rfng
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Rfng APN 11 120,674,778 (GRCm39) missense probably damaging 0.99
IGL01073:Rfng APN 11 120,674,747 (GRCm39) missense probably benign 0.01
IGL01748:Rfng APN 11 120,674,569 (GRCm39) missense probably benign 0.00
R1533:Rfng UTSW 11 120,672,687 (GRCm39) nonsense probably null
R2697:Rfng UTSW 11 120,674,865 (GRCm39) unclassified probably benign
R4169:Rfng UTSW 11 120,674,772 (GRCm39) missense probably benign 0.10
R4401:Rfng UTSW 11 120,673,306 (GRCm39) missense possibly damaging 0.94
R4613:Rfng UTSW 11 120,673,476 (GRCm39) missense probably damaging 1.00
R4738:Rfng UTSW 11 120,674,790 (GRCm39) missense probably damaging 1.00
R5015:Rfng UTSW 11 120,673,876 (GRCm39) missense probably damaging 0.98
R5703:Rfng UTSW 11 120,672,842 (GRCm39) missense probably benign 0.40
R6191:Rfng UTSW 11 120,673,516 (GRCm39) missense probably damaging 1.00
R8345:Rfng UTSW 11 120,674,901 (GRCm39) missense unknown
R9316:Rfng UTSW 11 120,674,863 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACGTCTGTGGGAGAAAACGC -3'
(R):5'- AGTTAAACACCTGAACCGGCAG -3'

Sequencing Primer
(F):5'- CTTGACTGCAATGAAGACGTCGTC -3'
(R):5'- GCAGCGGCATCTTCCAC -3'
Posted On 2021-07-15