Incidental Mutation 'R2848:Lfng'
ID 251828
Institutional Source Beutler Lab
Gene Symbol Lfng
Ensembl Gene ENSMUSG00000029570
Gene Name LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonyms lunatic fringe
MMRRC Submission 040441-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.895) question?
Stock # R2848 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 140593096-140601300 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140597622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 149 (D149E)
Ref Sequence ENSEMBL: ENSMUSP00000031555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031555]
AlphaFold O09010
Predicted Effect probably damaging
Transcript: ENSMUST00000031555
AA Change: D149E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031555
Gene: ENSMUSG00000029570
AA Change: D149E

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik A T 7: 126,429,894 (GRCm39) F101Y possibly damaging Het
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Adamts14 T A 10: 61,054,214 (GRCm39) Q606L probably damaging Het
Adgrf5 C A 17: 43,733,531 (GRCm39) N118K possibly damaging Het
Baz2b A T 2: 59,755,010 (GRCm39) Y1073N possibly damaging Het
Celf2 T C 2: 6,608,936 (GRCm39) R282G probably damaging Het
Cntnap5c A T 17: 58,183,387 (GRCm39) D31V probably damaging Het
Cobl A G 11: 12,328,342 (GRCm39) L81P probably damaging Het
Cpsf1 A T 15: 76,487,051 (GRCm39) L209Q probably damaging Het
Crocc G A 4: 140,746,067 (GRCm39) A1684V probably damaging Het
Cyp4f37 T A 17: 32,848,099 (GRCm39) C206S probably damaging Het
Dnah3 A G 7: 119,567,161 (GRCm39) V2355A probably benign Het
Dnah6 T C 6: 73,106,314 (GRCm39) K1756E probably benign Het
Fis1 T C 5: 136,991,971 (GRCm39) I55T possibly damaging Het
Gm2381 G A 7: 42,469,831 (GRCm39) P98S probably damaging Het
Gpr37 C T 6: 25,666,945 (GRCm39) probably benign Het
Grin2a A G 16: 9,579,829 (GRCm39) F145L possibly damaging Het
Htr4 T C 18: 62,561,197 (GRCm39) S153P probably damaging Het
Igkv9-120 T A 6: 68,027,128 (GRCm39) probably benign Het
Il12rb1 G A 8: 71,268,446 (GRCm39) W396* probably null Het
Itga8 A T 2: 12,165,215 (GRCm39) V798D probably damaging Het
Magi2 A AG 5: 20,807,459 (GRCm39) probably null Het
Mgam C A 6: 40,629,649 (GRCm39) A86E possibly damaging Het
Myh4 A G 11: 67,139,459 (GRCm39) N592S probably benign Het
Naa16 A G 14: 79,573,323 (GRCm39) C816R probably damaging Het
Nek8 A G 11: 78,058,967 (GRCm39) S513P probably damaging Het
Ociad1 A G 5: 73,451,694 (GRCm39) probably null Het
Or1j4 A G 2: 36,740,811 (GRCm39) Y251C probably damaging Het
Or2t35 C T 14: 14,407,398 (GRCm38) P57S probably damaging Het
Or4g7 T C 2: 111,309,699 (GRCm39) M190T probably benign Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Pcdh7 G A 5: 57,877,618 (GRCm39) G391E probably damaging Het
Pcdhga10 T A 18: 37,881,253 (GRCm39) V338E possibly damaging Het
Pde4b C T 4: 102,458,742 (GRCm39) A466V probably damaging Het
Peg10 C T 6: 4,756,912 (GRCm39) probably benign Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Ppargc1a A G 5: 51,631,151 (GRCm39) F493L probably benign Het
Ptpra C A 2: 130,386,919 (GRCm39) H603Q probably benign Het
Rnf10 T C 5: 115,387,171 (GRCm39) D439G probably benign Het
Shfl A T 9: 20,784,868 (GRCm39) H225L probably damaging Het
Syt3 G A 7: 44,042,866 (GRCm39) V383I probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Try5 C T 6: 41,290,410 (GRCm39) V25I probably benign Het
Ttn G T 2: 76,749,551 (GRCm39) Q3833K probably benign Het
Usp53 G A 3: 122,728,140 (GRCm39) P814L probably benign Het
Utp25 A T 1: 192,810,759 (GRCm39) N81K probably benign Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn2r114 A T 17: 23,509,948 (GRCm39) M844K probably benign Het
Vwa8 G T 14: 79,184,582 (GRCm39) R360L probably benign Het
Xlr4b A T X: 72,258,938 (GRCm39) Q25L probably null Het
Zfp532 T A 18: 65,789,697 (GRCm39) H1045Q possibly damaging Het
Zfp985 G A 4: 147,667,468 (GRCm39) W112* 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
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
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'- CTGAAGTTGGAGAGTGAGCC -3'
(R):5'- CCTCTGCATAAGAATCGGGG -3'

Sequencing Primer
(F):5'- TTGGAGAGTGAGCCCACCTC -3'
(R):5'- GAGTGAACTGGCCTCTTA -3'
Posted On 2014-12-04