Incidental Mutation 'R8407:Lfng'
ID 652464
Institutional Source Beutler Lab
Gene Symbol Lfng
Ensembl Gene ENSMUSG00000029570
Gene Name LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonyms lunatic fringe
MMRRC Submission 067814-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R8407 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 140593096-140601300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140598981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 297 (E297K)
Ref Sequence ENSEMBL: ENSMUSP00000031555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031555]
AlphaFold O09010
Predicted Effect probably damaging
Transcript: ENSMUST00000031555
AA Change: E297K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031555
Gene: ENSMUSG00000029570
AA Change: E297K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 37 60 N/A INTRINSIC
Pfam:Fringe 107 357 9.6e-124 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the fringe gene family which also includes radical and manic fringe genes. They all encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. This gene product is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a short tail and abnormal rib, somite, and lung development. Mice homozygous mice exhibit reduced female fertility, abnormal hair cells, and abnormal axial skeleton morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly T C 11: 100,384,897 (GRCm39) I629V possibly damaging Het
Ahnak C T 19: 8,993,037 (GRCm39) P4774S probably benign Het
Arhgef12 C T 9: 42,937,475 (GRCm39) probably null Het
BC048562 T A 9: 108,315,631 (GRCm39) S12R possibly damaging Het
Calhm2 G A 19: 47,098,755 (GRCm39) Q310* probably null Het
Celsr3 A G 9: 108,706,256 (GRCm39) E913G probably damaging Het
Cep68 T C 11: 20,190,446 (GRCm39) S189G possibly damaging Het
Cilp C A 9: 65,181,898 (GRCm39) P336T probably damaging Het
Cnot4 A G 6: 35,033,154 (GRCm39) S288P probably benign Het
Cst13 T C 2: 148,665,124 (GRCm39) S40P probably damaging Het
Cyp4f37 A T 17: 32,853,158 (GRCm39) D374V probably damaging Het
Ddit3 A G 10: 127,131,318 (GRCm39) T37A probably benign Het
Dnah2 T C 11: 69,350,104 (GRCm39) N2343S probably benign Het
Emp3 G A 7: 45,569,445 (GRCm39) P32L probably damaging Het
Esyt1 G T 10: 128,347,796 (GRCm39) L965M probably damaging Het
Fbxw28 T A 9: 109,155,269 (GRCm39) I406L probably benign Het
Fgf10 A G 13: 118,851,938 (GRCm39) T7A possibly damaging Het
Frs3 A T 17: 48,009,552 (GRCm39) D11V probably damaging Het
Glmn A G 5: 107,718,057 (GRCm39) S287P probably benign Het
Glyctk C T 9: 106,033,141 (GRCm39) A291T probably benign Het
H2bc12 G T 13: 22,220,217 (GRCm39) G54V probably damaging Het
Ibtk A T 9: 85,603,119 (GRCm39) F629I possibly damaging Het
Kcnh8 C A 17: 53,212,101 (GRCm39) A633E probably damaging Het
Kif24 T C 4: 41,394,488 (GRCm39) N929S probably benign Het
Ldlrap1 T C 4: 134,484,736 (GRCm39) K86R probably damaging Het
Lmod1 A G 1: 135,291,763 (GRCm39) K206R probably benign Het
Lmod1 C A 1: 135,292,734 (GRCm39) P530T possibly damaging Het
Lnp1 A T 16: 56,748,251 (GRCm39) S14T probably benign Het
Map3k6 T A 4: 132,974,904 (GRCm39) Y646N possibly damaging Het
Mapk14 G A 17: 28,963,983 (GRCm39) V290I probably benign Het
Mrpl22 C A 11: 58,066,156 (GRCm39) Y83* probably null Het
Myh6 T C 14: 55,201,388 (GRCm39) N104D probably benign Het
Nalcn T A 14: 123,554,683 (GRCm39) M903L probably damaging Het
Nfat5 C T 8: 108,094,047 (GRCm39) Q763* probably null Het
Or5w19 A C 2: 87,698,437 (GRCm39) Y34S probably damaging Het
Plin1 T C 7: 79,373,051 (GRCm39) D306G probably benign Het
Ppp1r12a T A 10: 108,076,042 (GRCm39) probably null Het
Prelid1 T A 13: 55,470,672 (GRCm39) H33Q probably damaging Het
Prkcz C T 4: 155,352,673 (GRCm39) A485T probably damaging Het
Ptch1 T C 13: 63,662,057 (GRCm39) E1169G probably null Het
Rps19 C A 7: 24,588,517 (GRCm39) T181K unknown Het
Skic2 G A 17: 35,060,103 (GRCm39) A889V probably benign Het
Slc22a3 A C 17: 12,640,368 (GRCm39) C538G probably benign Het
Slc2a10 T A 2: 165,356,787 (GRCm39) F149Y possibly damaging Het
Smarcal1 A G 1: 72,640,554 (GRCm39) I516M probably benign Het
Smarcc2 T A 10: 128,318,190 (GRCm39) W601R probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Srp68 A G 11: 116,143,589 (GRCm39) S369P probably benign Het
Tex2 C T 11: 106,459,221 (GRCm39) E70K probably damaging Het
Ticam2 A G 18: 46,693,590 (GRCm39) S166P probably damaging Het
Trpv5 A G 6: 41,652,272 (GRCm39) S138P probably benign Het
Ttll8 C T 15: 88,798,741 (GRCm39) V665I probably benign Het
Vmn2r81 T C 10: 79,104,028 (GRCm39) L217P possibly damaging Het
Zbtb4 T C 11: 69,669,101 (GRCm39) V608A probably benign Het
Zfp957 A G 14: 79,451,352 (GRCm39) V149A possibly damaging Het
Other mutations in Lfng
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Lfng APN 5 140,598,290 (GRCm39) missense probably damaging 1.00
zigzag UTSW 5 140,598,290 (GRCm39) missense probably damaging 1.00
PIT4305001:Lfng UTSW 5 140,598,283 (GRCm39) missense probably damaging 1.00
R2070:Lfng UTSW 5 140,598,350 (GRCm39) missense possibly damaging 0.63
R2848:Lfng UTSW 5 140,597,622 (GRCm39) missense probably damaging 1.00
R2849:Lfng UTSW 5 140,597,622 (GRCm39) missense probably damaging 1.00
R4689:Lfng UTSW 5 140,600,194 (GRCm39) missense probably damaging 0.99
R4936:Lfng UTSW 5 140,598,150 (GRCm39) splice site probably null
R5516:Lfng UTSW 5 140,599,018 (GRCm39) missense probably damaging 1.00
R5560:Lfng UTSW 5 140,600,022 (GRCm39) missense possibly damaging 0.89
R6334:Lfng UTSW 5 140,598,522 (GRCm39) missense possibly damaging 0.86
R6380:Lfng UTSW 5 140,600,151 (GRCm39) splice site probably null
R6627:Lfng UTSW 5 140,593,523 (GRCm39) missense probably damaging 1.00
R7832:Lfng UTSW 5 140,598,588 (GRCm39) missense probably benign 0.07
R7853:Lfng UTSW 5 140,593,384 (GRCm39) missense probably benign 0.01
R8367:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8368:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8384:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8385:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8435:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8494:Lfng UTSW 5 140,598,981 (GRCm39) missense probably damaging 1.00
R8896:Lfng UTSW 5 140,598,978 (GRCm39) missense probably benign 0.15
R9803:Lfng UTSW 5 140,593,528 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGGAAGGACTCTGGCTCATG -3'
(R):5'- AATTGTCCCTTCCTTGGAGGC -3'

Sequencing Primer
(F):5'- GGCATAGTGGACTCCCTCTTTTTG -3'
(R):5'- GAGGCACCCTCTCCCTTCTG -3'
Posted On 2020-10-20