Incidental Mutation 'R5006:Mfng'
ID 390178
Institutional Source Beutler Lab
Gene Symbol Mfng
Ensembl Gene ENSMUSG00000018169
Gene Name MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonyms manic fringe
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R5006 (G1)
Quality Score 209
Status Not 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: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
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 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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 C A 5: 24,781,535 (GRCm39) E51* probably null Het
Bcl11a T A 11: 24,114,989 (GRCm39) Y777* probably null Het
C2cd4c T A 10: 79,448,341 (GRCm39) T269S probably benign Het
Ciao2a G A 9: 66,043,634 (GRCm39) probably null Het
Efcab3 T A 11: 104,620,503 (GRCm39) probably null Het
Foxp1 A C 6: 99,139,819 (GRCm39) V54G probably damaging Het
Il2ra T G 2: 11,679,157 (GRCm39) L39R possibly damaging Het
Klk1b9 A T 7: 43,628,711 (GRCm39) K72* probably null Het
Lmo7 A G 14: 102,163,673 (GRCm39) probably benign Het
Nebl T A 2: 17,393,582 (GRCm39) probably null Het
Or6b6 C T 7: 106,570,808 (GRCm39) V248I probably damaging Het
Or7e169 G T 9: 19,757,567 (GRCm39) A116E probably benign Het
Or7g30 A G 9: 19,352,545 (GRCm39) N112S probably benign Het
Ralgapa1 A T 12: 55,764,899 (GRCm39) C918S probably benign Het
Rasd2 G T 8: 75,945,234 (GRCm39) R21L probably damaging Het
Sema4a A G 3: 88,344,091 (GRCm39) M720T probably benign Het
Susd3 A G 13: 49,392,181 (GRCm39) probably benign Het
Vmn1r235 T C 17: 21,482,467 (GRCm39) M264T probably benign Het
Wls A G 3: 159,617,428 (GRCm39) I368V possibly damaging Het
Ypel4 A G 2: 84,567,182 (GRCm39) D5G probably benign Het
Zbtb38 C T 9: 96,567,704 (GRCm39) G1127S probably 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
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
R5145: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'- AAATCCATGGTGATTCTAGGTGG -3'
(R):5'- GCTCCCTGACTCACAGCTATTAG -3'

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