Mutagenetix > Incidental Mutation

Incidental Mutation 'R6012:Mfng'

479830

Institutional Source

Beutler Lab

Gene Symbol

Mfng

Ensembl Gene

ENSMUSG00000018169

Gene Name

MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Synonyms

manic fringe

MMRRC Submission

044188-MU

Accession Numbers

Essential gene?

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

Stock #

R6012 (G1)

Quality Score

152.008

Status

Validated

Chromosome

Chromosomal Location

78640082-78657675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78640840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 302 (R302C)

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 damaging
Transcript: ENSMUST00000018313
AA Change: R302C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018313
Gene: ENSMUSG00000018169
AA Change: R302C

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

Meta Mutation Damage Score

0.1409

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

100% (55/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,400,691 (GRCm39)	Y97N	probably damaging	Het
Adrm1b	C	A	3: 92,336,791 (GRCm39)		probably null	Het
Akr1b10	A	T	6: 34,364,715 (GRCm39)	I59F	probably damaging	Het
Als2	A	T	1: 59,224,374 (GRCm39)	D1076E	probably damaging	Het
Bank1	T	C	3: 135,919,598 (GRCm39)	D266G	probably benign	Het
Bmp2k	T	A	5: 97,211,467 (GRCm39)		probably null	Het
Cdc42bpa	A	G	1: 179,892,655 (GRCm39)	Y273C	probably damaging	Het
Chfr	G	T	5: 110,292,517 (GRCm39)		probably null	Het
Dapk1	A	T	13: 60,909,476 (GRCm39)	Q1363L	probably benign	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Ect2	T	C	3: 27,152,474 (GRCm39)		probably benign	Het
Efcab10	A	C	12: 33,448,592 (GRCm39)	D107A	probably damaging	Het
Fcgr4	G	A	1: 170,853,233 (GRCm39)	G146D	possibly damaging	Het
Fgd5	A	G	6: 91,966,322 (GRCm39)	T694A	possibly damaging	Het
Ghr	T	C	15: 3,370,409 (GRCm39)	D152G	probably damaging	Het
Gli2	A	C	1: 118,765,445 (GRCm39)	L902R	probably damaging	Het
Glis2	G	A	16: 4,429,172 (GRCm39)	G125D	possibly damaging	Het
Gmcl1	A	G	6: 86,698,394 (GRCm39)	Y168H	probably damaging	Het
Golga4	A	G	9: 118,388,764 (GRCm39)	K1962R	possibly damaging	Het
Hebp1	T	A	6: 135,145,055 (GRCm39)	E14V	probably damaging	Het
Hhla1	A	C	15: 65,820,339 (GRCm39)	I137S	probably damaging	Het
Hivep1	A	G	13: 42,337,934 (GRCm39)	H2671R	possibly damaging	Het
Hltf	A	G	3: 20,113,098 (GRCm39)	Y19C	probably damaging	Het
Hsd3b2	A	T	3: 98,619,333 (GRCm39)	M204K	probably benign	Het
Hspa4l	A	T	3: 40,736,031 (GRCm39)	I551F	probably benign	Het
Itpkc	A	T	7: 26,927,490 (GRCm39)	D141E	probably damaging	Het
Kcnc3	A	G	7: 44,248,296 (GRCm39)	D757G	probably benign	Het
Mettl16	A	T	11: 74,678,474 (GRCm39)	Y141F	probably damaging	Het
Mogs	T	A	6: 83,094,363 (GRCm39)	S393R	probably damaging	Het
Mrps28	A	G	3: 8,965,044 (GRCm39)		probably null	Het
Nfat5	T	C	8: 108,093,765 (GRCm39)	S150P	probably benign	Het
Or2w1	T	C	13: 21,316,978 (GRCm39)	V11A	probably benign	Het
Or7d10	A	T	9: 19,832,237 (GRCm39)	H244L	probably damaging	Het
Pcdh12	A	G	18: 38,416,805 (GRCm39)	S107P	probably damaging	Het
Phf21a	G	A	2: 92,182,120 (GRCm39)	D463N	probably damaging	Het
Picalm	A	C	7: 89,844,908 (GRCm39)	I567L	probably benign	Het
Pla2g4a	T	A	1: 149,808,428 (GRCm39)	D5V	possibly damaging	Het
Sspo	C	T	6: 48,428,305 (GRCm39)	T222M	probably benign	Het
Stard9	T	C	2: 120,535,067 (GRCm39)	S3775P	probably damaging	Het
Stk31	A	T	6: 49,446,243 (GRCm39)	D982V	probably damaging	Het
Tas2r113	C	T	6: 132,870,644 (GRCm39)	T224I	probably damaging	Het
Tbc1d15	T	C	10: 115,055,112 (GRCm39)	D310G	probably damaging	Het
Tcf12	G	T	9: 71,766,229 (GRCm39)	T468K	possibly damaging	Het
Tenm4	A	G	7: 96,171,640 (GRCm39)		probably benign	Het
Tet2	A	G	3: 133,172,542 (GRCm39)	Y1907H	possibly damaging	Het
Thsd7a	T	C	6: 12,379,388 (GRCm39)		probably null	Het
Tln1	T	A	4: 43,539,508 (GRCm39)	T1605S	probably benign	Het
Trp53bp1	T	C	2: 121,087,083 (GRCm39)	Y191C	probably benign	Het
Ugcg	T	A	4: 59,220,272 (GRCm39)	I355N	probably damaging	Het
Vmn1r21	A	T	6: 57,820,891 (GRCm39)	D184E	probably damaging	Het
Vsig10l	T	A	7: 43,117,439 (GRCm39)	D575E	probably damaging	Het
Zan	G	A	5: 137,462,791 (GRCm39)	T796I	unknown	Het
Zfp639	A	G	3: 32,573,271 (GRCm39)	D61G	probably damaging	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
R5266:Mfng	UTSW	15	78,648,588 (GRCm39)	missense	probably benign
R5969:Mfng	UTSW	15	78,648,582 (GRCm39)	missense	possibly damaging	0.94
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'- AGCAGTGTCCATATCGTAGC -3'
(R):5'- GAGGGTCTCAAATCAGGGGTTG -3'

Sequencing Primer
(F):5'- AGCAGTGTCCATATCGTAGCCTTTC -3'
(R):5'- CTCAAATCAGGGGTTGTTTGCCAG -3'

Posted On

2017-06-26