Mutagenetix > Incidental Mutation

Incidental Mutation 'R5266:Mfng'

401725

Institutional Source

Beutler Lab

Gene Symbol

Mfng

Ensembl Gene

ENSMUSG00000018169

Gene Name

MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Synonyms

manic fringe

MMRRC Submission

042858-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5266 (G1)

Quality Score

225

Status

Validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	C	18: 70,591,455 (GRCm39)	N457S	probably damaging	Het
Asic4	G	A	1: 75,427,567 (GRCm39)	G31E	probably benign	Het
Atp2a3	A	G	11: 72,866,223 (GRCm39)	D281G	probably damaging	Het
Azin1	T	C	15: 38,491,795 (GRCm39)	D387G	probably benign	Het
Bdp1	T	C	13: 100,204,043 (GRCm39)	M660V	probably benign	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Cfap54	T	G	10: 92,651,764 (GRCm39)	K3095N	probably benign	Het
Chl1	A	G	6: 103,677,504 (GRCm39)	N706S	probably damaging	Het
Crym	A	G	7: 119,798,517 (GRCm39)	V113A	probably benign	Het
Cux1	A	G	5: 136,341,548 (GRCm39)	S607P	probably damaging	Het
Cyp3a44	T	C	5: 145,731,207 (GRCm39)	N198D	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Elac1	A	G	18: 73,875,740 (GRCm39)	V97A	probably benign	Het
Erbb3	G	A	10: 128,405,505 (GRCm39)	T1251M	probably damaging	Het
Gask1b	T	A	3: 79,843,910 (GRCm39)	N12K	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hydin	A	G	8: 111,061,416 (GRCm39)	H316R	possibly damaging	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Lyst	T	C	13: 13,835,555 (GRCm39)	Y1746H	probably damaging	Het
Map3k11	T	A	19: 5,750,622 (GRCm39)	N613K	probably benign	Het
Mrm1	A	T	11: 84,710,086 (GRCm39)	L38Q	possibly damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Ndst2	G	A	14: 20,774,555 (GRCm39)	R834W	probably damaging	Het
Opa1	T	A	16: 29,436,948 (GRCm39)	I637N	probably benign	Het
Or52h9	A	T	7: 104,203,026 (GRCm39)	Q300L	probably benign	Het
Or5d43	T	C	2: 88,104,565 (GRCm39)	Y276C	possibly damaging	Het
Padi4	A	G	4: 140,473,442 (GRCm39)	V665A	possibly damaging	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pkp3	A	G	7: 140,663,190 (GRCm39)	D345G	probably damaging	Het
Pla2g4a	T	C	1: 149,740,918 (GRCm39)	M366V	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pon3	T	C	6: 5,240,860 (GRCm39)	D34G	possibly damaging	Het
Ppargc1b	A	T	18: 61,448,876 (GRCm39)	S133T	probably damaging	Het
Ppp4r3b	T	C	11: 29,123,309 (GRCm39)	S2P	possibly damaging	Het
Rbm20	A	G	19: 53,801,818 (GRCm39)	T109A	probably damaging	Het
Rexo5	C	A	7: 119,443,660 (GRCm39)	H690Q	probably benign	Het
Scube2	C	T	7: 109,408,437 (GRCm39)	G670D	probably damaging	Het
Sipa1l2	T	C	8: 126,218,865 (GRCm39)	I157M	probably damaging	Het
Slbp	A	T	5: 33,801,210 (GRCm39)	I167N	probably damaging	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Stk36	T	C	1: 74,650,317 (GRCm39)	V283A	probably benign	Het
Tead1	A	G	7: 112,358,673 (GRCm39)		probably benign	Het
Tecpr2	G	C	12: 110,881,836 (GRCm39)	W135S	probably damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Ttc39a	A	T	4: 109,279,701 (GRCm39)	I112F	probably benign	Het
Vmn1r128	A	T	7: 21,083,328 (GRCm39)	T11S	probably benign	Het
Vnn1	G	A	10: 23,779,303 (GRCm39)	C404Y	probably damaging	Het
Wdr41	T	C	13: 95,131,759 (GRCm39)	F57L	probably damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Zfp985	A	T	4: 147,667,289 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,962,865 (GRCm39)	S176P	probably benign	Het

Other mutations in Mfng

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5146: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'- AATCCATGGTGATTCTAGGTGG -3'
(R):5'- CTCCCTGACTCACAGCTATTAG -3'

Sequencing Primer
(F):5'- CAAGACAGGGCTCTCTGATG -3'
(R):5'- CTATTAGCTGTTGACCTCGGGGAC -3'

Posted On

2016-07-06