Incidental Mutation 'R5146:Mfng'
ID 395128
Institutional Source Beutler Lab
Gene Symbol Mfng
Ensembl Gene ENSMUSG00000018169
Gene Name MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Synonyms manic fringe
MMRRC Submission 042730-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R5146 (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
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

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: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 97% (35/36)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,289,799 (GRCm39) D1498G possibly damaging Het
Adcyap1r1 A G 6: 55,461,957 (GRCm39) I329V probably benign Het
Ahnak2 A C 12: 112,742,160 (GRCm39) H637Q probably benign Het
Carmil3 A G 14: 55,734,636 (GRCm39) D455G probably benign Het
Cdh20 A G 1: 109,922,042 (GRCm39) T45A probably damaging Het
Chil4 T A 3: 106,110,150 (GRCm39) T315S probably benign Het
Cntnap5c T C 17: 58,320,842 (GRCm39) V138A probably damaging Het
Csmd1 T C 8: 16,246,204 (GRCm39) D1065G probably damaging Het
Cspp1 C T 1: 10,145,101 (GRCm39) R296* probably null Het
Dnah17 A G 11: 118,005,005 (GRCm39) M793T probably damaging Het
Dock4 A G 12: 40,699,491 (GRCm39) probably null Het
Fgfr4 G T 13: 55,313,725 (GRCm39) L511F probably damaging Het
Gm14415 T C 2: 176,796,024 (GRCm39) noncoding transcript Het
Gpam A G 19: 55,082,378 (GRCm39) V91A probably damaging Het
Grin2b T A 6: 135,756,340 (GRCm39) I462F probably damaging Het
Grwd1 A T 7: 45,477,258 (GRCm39) F210I probably damaging Het
H2-T9 A G 17: 36,439,907 (GRCm39) W76R probably damaging Het
Itfg1 T C 8: 86,445,497 (GRCm39) *611W probably null Het
Kcna2 T C 3: 107,012,814 (GRCm39) V465A probably benign Het
Myo15b A G 11: 115,782,024 (GRCm39) T1444A probably benign Het
Nlgn3 G A X: 100,361,891 (GRCm39) V287I probably benign Het
Oas1c A G 5: 120,940,159 (GRCm39) S336P probably benign Het
Pirb T C 7: 3,715,620 (GRCm39) probably benign Het
Pot1b A T 17: 55,979,865 (GRCm39) Y330* probably null Het
Rnf20 A T 4: 49,651,456 (GRCm39) M641L probably benign Het
Sppl2b T C 10: 80,703,474 (GRCm39) *579Q probably null Het
Sumf1 G A 6: 108,162,271 (GRCm39) P83S probably benign Het
Tmem101 C T 11: 102,045,450 (GRCm39) R133Q probably benign Het
Ttn G A 2: 76,700,707 (GRCm39) probably benign Het
Vmn2r84 A G 10: 130,221,971 (GRCm39) Y750H probably damaging Het
Zfp873 A G 10: 81,896,058 (GRCm39) Y300C 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
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
R5145: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

Sequencing Primer
Posted On 2016-06-21