Mutagenetix > Incidental Mutation

Incidental Mutation 'R5969:Mfng'

470766

Institutional Source

Beutler Lab

Gene Symbol

Mfng

Ensembl Gene

ENSMUSG00000018169

Gene Name

MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Synonyms

manic fringe

MMRRC Submission

044152-MU

Accession Numbers

Essential gene?

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

Stock #

R5969 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78640082-78657675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78648582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 165 (V165D)

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

possibly damaging
Transcript: ENSMUST00000018313
AA Change: V165D

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000018313
Gene: ENSMUSG00000018169
AA Change: V165D

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

0.9324

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,258,999 (GRCm39)	Y19D	probably damaging	Het
Abca13	T	A	11: 9,242,214 (GRCm39)	L1359*	probably null	Het
Ahi1	A	T	10: 20,860,292 (GRCm39)	D671V	probably damaging	Het
Ahnak	T	C	19: 8,993,949 (GRCm39)	S5078P	probably damaging	Het
Ankhd1	A	T	18: 36,733,887 (GRCm39)	T584S	probably damaging	Het
Apba2	T	A	7: 64,394,195 (GRCm39)	L568*	probably null	Het
Cenpn	C	A	8: 117,667,276 (GRCm39)	L300I	probably damaging	Het
Cmya5	A	T	13: 93,226,052 (GRCm39)	L3012Q	possibly damaging	Het
Cnnm1	T	C	19: 43,479,911 (GRCm39)	S819P	probably damaging	Het
Cpa6	A	T	1: 10,559,108 (GRCm39)	S87T	probably benign	Het
Crybg2	T	A	4: 133,803,003 (GRCm39)		probably null	Het
Csmd1	T	A	8: 16,121,367 (GRCm39)	T1777S	probably benign	Het
Csmd3	G	T	15: 47,811,386 (GRCm39)	P1235Q	probably damaging	Het
Cxcr4	T	A	1: 128,517,584 (GRCm39)	N24Y	probably benign	Het
D630003M21Rik	G	T	2: 158,059,628 (GRCm39)	H91N	probably damaging	Het
Ece1	T	C	4: 137,689,051 (GRCm39)		probably null	Het
Edc3	T	C	9: 57,620,711 (GRCm39)	S11P	probably damaging	Het
Eif1ad14	T	C	12: 87,886,248 (GRCm39)	D127G	unknown	Het
Exoc3	G	A	13: 74,320,305 (GRCm39)	Q719*	probably null	Het
Fam13a	A	G	6: 58,942,183 (GRCm39)	M203T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fhip2a	C	T	19: 57,372,555 (GRCm39)	R602*	probably null	Het
Fxyd2	T	A	9: 45,319,628 (GRCm39)	I30N	probably damaging	Het
Gapt	A	G	13: 110,490,480 (GRCm39)	V61A	probably benign	Het
Glb1l2	C	T	9: 26,692,038 (GRCm39)	A74T	probably damaging	Het
Gpr35	T	C	1: 92,910,942 (GRCm39)	V2A	probably damaging	Het
Gtf3c1	A	G	7: 125,244,848 (GRCm39)	S1729P	possibly damaging	Het
Heatr5a	T	C	12: 52,005,823 (GRCm39)	T51A	probably benign	Het
Kat6b	G	A	14: 21,720,860 (GRCm39)	M1737I	probably damaging	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klk10	A	G	7: 43,434,409 (GRCm39)	Y267C	probably damaging	Het
Lgmn	T	C	12: 102,372,086 (GRCm39)	Y98C	probably damaging	Het
Lyst	A	C	13: 13,862,398 (GRCm39)		probably null	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mto1	A	G	9: 78,360,187 (GRCm39)	E225G	probably damaging	Het
Notch3	C	A	17: 32,372,858 (GRCm39)	C571F	probably damaging	Het
Nup205	C	T	6: 35,154,513 (GRCm39)		probably benign	Het
Or51b6	T	A	7: 103,556,117 (GRCm39)	I157N	probably damaging	Het
P2ry14	T	A	3: 59,022,579 (GRCm39)	I303F	probably damaging	Het
Pcnx3	T	C	19: 5,735,563 (GRCm39)	D421G	probably damaging	Het
Pdlim4	T	C	11: 53,954,482 (GRCm39)	H75R	possibly damaging	Het
Phf21a	A	T	2: 92,051,956 (GRCm39)	H17L	probably damaging	Het
Ppid	T	A	3: 79,505,024 (GRCm39)	N122K	probably damaging	Het
Ppp4r3a	T	C	12: 101,009,838 (GRCm39)	I613V	probably benign	Het
Prcp	C	T	7: 92,566,974 (GRCm39)	P229S	probably benign	Het
Ralgds	T	C	2: 28,432,426 (GRCm39)	V85A	probably damaging	Het
Rgs22	G	A	15: 36,015,782 (GRCm39)	T1034I	probably benign	Het
Slc4a3	T	C	1: 75,526,623 (GRCm39)	V48A	probably damaging	Het
Snx16	A	T	3: 10,503,217 (GRCm39)	M10K	possibly damaging	Het
Svep1	G	A	4: 58,070,977 (GRCm39)	Q2270*	probably null	Het
Tmem185b	T	G	1: 119,455,193 (GRCm39)	I318S	probably benign	Het
Tnik	C	T	3: 28,675,097 (GRCm39)	R657C	probably damaging	Het
Top3b	T	C	16: 16,701,429 (GRCm39)		probably null	Het
Trim40	C	T	17: 37,193,319 (GRCm39)	R203H	probably benign	Het
Triobp	T	A	15: 78,851,740 (GRCm39)	N631K	probably benign	Het
Ubr3	T	G	2: 69,809,730 (GRCm39)	Y1233*	probably null	Het
Vgll3	A	G	16: 65,636,449 (GRCm39)	D200G	probably damaging	Het
Vmn2r24	G	A	6: 123,755,981 (GRCm39)	E18K	probably benign	Het
Zfp141	C	A	7: 42,138,912 (GRCm39)	R40L	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
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'- AAAGCCCAGTGGTCAGAGAC -3'
(R):5'- GCTCCCTGACTCACAGCTATTAG -3'

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

Posted On

2017-03-31