Incidental Mutation 'R6334:Lfng'
ID 510697
Institutional Source Beutler Lab
Gene Symbol Lfng
Ensembl Gene ENSMUSG00000029570
Gene Name LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonyms lunatic fringe
MMRRC Submission 044488-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R6334 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 140593096-140601300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140598522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 247 (V247A)
Ref Sequence ENSEMBL: ENSMUSP00000031555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031555]
AlphaFold O09010
Predicted Effect possibly damaging
Transcript: ENSMUST00000031555
AA Change: V247A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031555
Gene: ENSMUSG00000029570
AA Change: V247A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200626
Meta Mutation Damage Score 0.4173 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (64/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,770,940 (GRCm39) S141T probably benign Het
Afap1l2 A G 19: 56,906,408 (GRCm39) probably null Het
Aox1 C T 1: 58,346,566 (GRCm39) Q567* probably null Het
Aqp4 T A 18: 15,526,648 (GRCm39) M278L probably benign Het
Atp23 A C 10: 126,723,538 (GRCm39) L188R probably benign Het
Catsperg1 C T 7: 28,905,782 (GRCm39) G215D probably benign Het
Cavin4 T C 4: 48,663,824 (GRCm39) V68A possibly damaging Het
Ccl4 T C 11: 83,553,504 (GRCm39) S6P unknown Het
Cfap46 T C 7: 139,260,747 (GRCm39) E117G probably damaging Het
Cfhr4 A G 1: 139,701,662 (GRCm39) probably null Het
Chek1 A G 9: 36,625,788 (GRCm39) S286P possibly damaging Het
Cntn4 G A 6: 106,321,747 (GRCm39) V35I probably benign Het
Cntn4 C A 6: 106,483,153 (GRCm39) P236Q probably benign Het
Cyp2d40 C A 15: 82,645,753 (GRCm39) G84V probably benign Het
Dnah12 A T 14: 26,427,989 (GRCm39) H205L possibly damaging Het
Dock1 G A 7: 134,453,305 (GRCm39) V845I probably benign Het
Drg1 T C 11: 3,216,292 (GRCm39) K7E possibly damaging Het
Eloa G A 4: 135,737,133 (GRCm39) P488S probably damaging Het
Evi5 G A 5: 107,968,387 (GRCm39) R187* probably null Het
Fam53a T A 5: 33,758,219 (GRCm39) L301F probably damaging Het
Fmnl3 T C 15: 99,235,534 (GRCm39) K63E probably damaging Het
Gast C A 11: 100,227,438 (GRCm39) Q44K probably benign Het
Gng10 T A 4: 59,035,257 (GRCm39) V7E probably benign Het
Gtf3c5 G A 2: 28,460,474 (GRCm39) T375I probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hspa14 A T 2: 3,490,109 (GRCm39) probably null Het
Kcna3 T C 3: 106,943,740 (GRCm39) M1T probably null Het
Kcnj15 T G 16: 95,097,095 (GRCm39) L239R probably damaging Het
Klhl2 G T 8: 65,212,842 (GRCm39) D232E probably benign Het
Lamb3 A T 1: 193,017,782 (GRCm39) I888F probably damaging Het
Lars1 C A 18: 42,350,551 (GRCm39) M919I probably benign Het
Lrp1b C T 2: 41,679,045 (GRCm39) A16T probably benign Het
Mamdc2 A T 19: 23,341,270 (GRCm39) I235N probably damaging Het
Map9 T A 3: 82,290,612 (GRCm39) L492Q probably damaging Het
Mcpt8 A G 14: 56,322,604 (GRCm39) V14A possibly damaging Het
Myo1b T C 1: 51,807,810 (GRCm39) K823R probably null Het
Nbea G T 3: 55,944,570 (GRCm39) T598K probably damaging Het
Nrcam C A 12: 44,619,083 (GRCm39) H877N probably benign Het
Nrxn2 T C 19: 6,581,322 (GRCm39) probably null Het
Nwd2 A T 5: 63,957,596 (GRCm39) I309F possibly damaging Het
Phyhd1 G A 2: 30,164,736 (GRCm39) probably null Het
Pkp2 C T 16: 16,043,933 (GRCm39) T229I probably damaging Het
Plagl2 G A 2: 153,074,611 (GRCm39) P97S probably benign Het
Plekhh2 C A 17: 84,874,294 (GRCm39) N526K probably benign Het
Plin4 A G 17: 56,410,261 (GRCm39) L1217P probably benign Het
Polr3e T C 7: 120,527,222 (GRCm39) S67P possibly damaging Het
Postn A G 3: 54,292,703 (GRCm39) K757E probably benign Het
Prpf39 T A 12: 65,089,587 (GRCm39) probably null Het
Ptprg C T 14: 12,166,832 (GRCm38) T745I probably damaging Het
Pxylp1 C G 9: 96,707,307 (GRCm39) A292P probably damaging Het
Rpl35 G T 2: 38,891,754 (GRCm39) D82E possibly damaging Het
Slc9a1 G A 4: 133,149,519 (GRCm39) V782I possibly damaging Het
Syn2 T A 6: 115,240,875 (GRCm39) M415K possibly damaging Het
Tmem117 A C 15: 94,909,324 (GRCm39) I246L probably benign Het
Tmem221 A T 8: 72,011,428 (GRCm39) V9E probably damaging Het
Trav13-5 A G 14: 54,033,399 (GRCm39) T103A probably damaging Het
Ubxn7 T A 16: 32,191,007 (GRCm39) probably null Het
Vmn2r101 G T 17: 19,810,112 (GRCm39) M299I possibly damaging Het
Vmn2r103 T A 17: 20,014,344 (GRCm39) S379T probably damaging Het
Vmn2r109 T C 17: 20,761,440 (GRCm39) N639S probably benign Het
Wdr26 T C 1: 181,030,771 (GRCm39) Het
Zfp109 T A 7: 23,928,308 (GRCm39) Y367F probably damaging Het
Zfp143 G A 7: 109,685,338 (GRCm39) C389Y probably damaging Het
Zfp553 G T 7: 126,836,064 (GRCm39) probably null 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
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
R8407: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'- ACCCAAGACGTGTACATCGG -3'
(R):5'- TGCCGAAGACTTTATCAGAGGTAG -3'

Sequencing Primer
(F):5'- ACGTGTACATCGGCAAGC -3'
(R):5'- CTTTATCAGAGGTAGAGAGAGTGGC -3'
Posted On 2018-04-02