Incidental Mutation 'R5145:Mfng'
ID 395095
Institutional Source Beutler Lab
Gene Symbol Mfng
Ensembl Gene ENSMUSG00000018169
Gene Name MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonyms manic fringe
MMRRC Submission 042729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R5145 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78640082-78657675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78648588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 163 (R163H)
Ref Sequence ENSEMBL: ENSMUSP00000018313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018313]
AlphaFold O09008
PDB Structure STRUCTURE OF THE CATALYTIC DOMAIN OF MOUSE MANIC FRINGE [X-RAY DIFFRACTION]
STRUCTURE OF THE CATALYTIC DOMAIN OF MOUSE MANIC FRINGE IN COMPLEX WITH UDP AND MANGANESE [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000018313
AA Change: R163H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018313
Gene: ENSMUSG00000018169
AA Change: R163H

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Fringe 49 300 6.9e-114 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128389
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136795
Meta Mutation Damage Score 0.1111 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (37/37)
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 lunatic fringe genes. They all encode evolutionarily conserved secreted proteins that act in the Notch receptor pathway to demarcate 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. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null mutation exhibit normal pancreatic development, morphology and physiology. Mice homozygous for a different knock-out allele exhibit altered lymphocyte numbers, abnormal circulating factors II, VII, IX and XI, and decreased prothrombin and partial thromboplastin time. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 G A 15: 11,285,962 (GRCm39) G724R probably damaging Het
Adgrg7 T A 16: 56,562,682 (GRCm39) I552L probably benign Het
Ankrd11 A G 8: 123,617,943 (GRCm39) probably benign Het
Col12a1 T C 9: 79,613,582 (GRCm39) T88A probably benign Het
Col6a5 T G 9: 105,811,444 (GRCm39) I692L unknown Het
Cry2 T C 2: 92,243,405 (GRCm39) I479V probably benign Het
Ddx21 T C 10: 62,423,318 (GRCm39) probably null Het
Efcab12 T A 6: 115,800,238 (GRCm39) I262F probably damaging Het
Eif2ak2 T C 17: 79,183,633 (GRCm39) D72G possibly damaging Het
Fry T C 5: 150,293,689 (GRCm39) F461L probably damaging Het
Gm38706 G A 6: 130,460,731 (GRCm39) noncoding transcript Het
Gm9772 C T 17: 22,226,107 (GRCm39) C59Y probably damaging Het
Meig1 T C 2: 3,410,263 (GRCm39) E79G probably damaging Het
Mfsd2b T A 12: 4,915,908 (GRCm39) probably benign Het
Nfatc2 A C 2: 168,431,987 (GRCm39) I42S probably benign Het
Nlgn3 G A X: 100,361,891 (GRCm39) V287I probably benign Het
Npy6r C T 18: 44,409,686 (GRCm39) T369I probably benign Het
Or7a36 A G 10: 78,820,143 (GRCm39) E173G probably benign Het
Ptprb A G 10: 116,179,820 (GRCm39) T1413A probably benign Het
Ptprc A G 1: 138,017,304 (GRCm39) S624P probably benign Het
Pum3 A G 19: 27,377,169 (GRCm39) V441A probably damaging Het
Ranbp2 T A 10: 58,315,860 (GRCm39) D2193E probably damaging Het
Rbl1 A T 2: 157,017,397 (GRCm39) probably benign Het
Rnf167 T C 11: 70,540,906 (GRCm39) probably benign Het
Sdr9c7 T C 10: 127,738,259 (GRCm39) V179A probably damaging Het
Sema3c A G 5: 17,932,615 (GRCm39) N706S possibly damaging Het
Stt3a T C 9: 36,646,762 (GRCm39) Y617C probably damaging Het
Tdrd6 T A 17: 43,936,966 (GRCm39) S1361C probably damaging Het
Tha1 A C 11: 117,760,502 (GRCm39) S241A probably damaging Het
Tti1 G A 2: 157,850,432 (GRCm39) A269V probably benign Het
Ugt2a1 A G 5: 87,633,886 (GRCm39) probably null Het
Vmn2r10 T C 5: 109,143,761 (GRCm39) T730A possibly damaging Het
Other mutations in Mfng
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0389:Mfng UTSW 15 78,648,637 (GRCm39) missense possibly damaging 0.79
R0504:Mfng UTSW 15 78,641,514 (GRCm39) missense probably benign 0.00
R1905:Mfng UTSW 15 78,657,286 (GRCm39) missense probably damaging 1.00
R3871:Mfng UTSW 15 78,640,821 (GRCm39) missense probably damaging 1.00
R4845:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R4872:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R4874:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R4925:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R4934:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R5006:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R5029:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R5048:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R5064:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R5067:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R5143:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R5146:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R5266:Mfng UTSW 15 78,648,588 (GRCm39) missense probably benign
R5969:Mfng UTSW 15 78,648,582 (GRCm39) missense possibly damaging 0.94
R6012:Mfng UTSW 15 78,640,840 (GRCm39) missense probably damaging 1.00
R6654:Mfng UTSW 15 78,643,539 (GRCm39) missense probably damaging 1.00
R7211:Mfng UTSW 15 78,657,268 (GRCm39) missense probably benign 0.12
R7793:Mfng UTSW 15 78,657,265 (GRCm39) missense probably damaging 1.00
R8292:Mfng UTSW 15 78,657,370 (GRCm39) missense probably benign
R9021:Mfng UTSW 15 78,657,348 (GRCm39) missense probably benign 0.06
R9289:Mfng UTSW 15 78,643,457 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AAATCCATGGTGATTCTAGGTGGC -3'
(R):5'- CTCCCTGACTCACAGCTATTAG -3'

Sequencing Primer
(F):5'- CAAGACAGGGCTCTCTGATG -3'
(R):5'- CTATTAGCTGTTGACCTCGGGGAC -3'
Posted On 2016-06-21