Mutagenetix > Incidental Mutation

Incidental Mutation 'R4872:Mfng'

376689

Institutional Source

Beutler Lab

Gene Symbol

Mfng

Ensembl Gene

ENSMUSG00000018169

Gene Name

MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Synonyms

manic fringe

MMRRC Submission

042482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R4872 (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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (81/83)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	C	A	15: 91,075,514 (GRCm39)	V100L	probably benign	Het
Acad11	G	A	9: 103,963,465 (GRCm39)		probably benign	Het
Actb	C	T	5: 142,891,307 (GRCm39)		probably benign	Het
Ano9	G	A	7: 140,687,117 (GRCm39)	A374V	probably damaging	Het
Baz2b	T	C	2: 59,773,103 (GRCm39)		probably null	Het
Bltp3a	G	T	17: 28,109,110 (GRCm39)	D1110Y	probably benign	Het
Bpifb9b	T	A	2: 154,155,551 (GRCm39)	L350Q	probably damaging	Het
Cd27	T	A	6: 125,211,281 (GRCm39)		probably null	Het
Cd72	A	G	4: 43,449,563 (GRCm39)		probably benign	Het
Cdadc1	A	T	14: 59,801,973 (GRCm39)	S516T	probably benign	Het
Chst5	T	A	8: 112,617,192 (GRCm39)	I143F	possibly damaging	Het
Col20a1	T	C	2: 180,639,156 (GRCm39)	V452A	possibly damaging	Het
Cox11	C	A	11: 90,535,229 (GRCm39)	Q227K	probably benign	Het
Cpa6	A	G	1: 10,665,843 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpm2	T	C	2: 32,461,203 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Frem1	A	C	4: 82,881,387 (GRCm39)	N1273K	probably damaging	Het
Fry	T	C	5: 150,317,704 (GRCm39)		probably null	Het
Gm10306	G	T	4: 94,445,069 (GRCm39)		probably benign	Het
Gm5565	T	C	5: 146,094,913 (GRCm39)	T278A	probably benign	Het
Gm8180	A	G	14: 44,019,802 (GRCm39)	I40T	probably benign	Het
Iah1	T	C	12: 21,367,426 (GRCm39)	V44A	probably benign	Het
Iqgap3	C	T	3: 88,020,435 (GRCm39)	P360S	probably damaging	Het
Klhl28	T	A	12: 65,003,896 (GRCm39)	I206F	possibly damaging	Het
Krt13	A	G	11: 100,012,332 (GRCm39)		probably benign	Het
Lipo2	T	A	19: 33,726,914 (GRCm39)	D41V	probably benign	Het
Lrig2	C	G	3: 104,398,842 (GRCm39)	V229L	possibly damaging	Het
Lrrc32	C	T	7: 98,147,727 (GRCm39)	T169I	probably damaging	Het
Lrriq1	T	C	10: 103,014,649 (GRCm39)	N1053S	possibly damaging	Het
Mgat4c	G	C	10: 102,224,599 (GRCm39)	R271P	probably damaging	Het
Mylk	A	G	16: 34,735,360 (GRCm39)	N780S	possibly damaging	Het
N4bp1	T	C	8: 87,587,676 (GRCm39)	T421A	probably benign	Het
Nat8f1	T	C	6: 85,887,295 (GRCm39)	T222A	probably benign	Het
Nsun2	T	C	13: 69,691,992 (GRCm39)		probably benign	Het
Oas2	T	A	5: 120,876,599 (GRCm39)	D448V	probably damaging	Het
Or10al7	C	A	17: 38,366,467 (GRCm39)	V6F	probably benign	Het
Or2l13b	A	T	16: 19,349,383 (GRCm39)	C96S	probably damaging	Het
Or5ak22	T	C	2: 85,230,772 (GRCm39)	Y35C	probably damaging	Het
Pgm2l1	T	A	7: 99,877,204 (GRCm39)	L25Q	probably damaging	Het
Pigp	A	T	16: 94,166,309 (GRCm39)	V133D	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pomt2	C	T	12: 87,156,881 (GRCm39)	D752N	possibly damaging	Het
Ppat	T	C	5: 77,074,640 (GRCm39)	K65E	probably damaging	Het
Ptprn2	T	C	12: 117,125,314 (GRCm39)	L616P	probably damaging	Het
Rad54l2	A	G	9: 106,595,091 (GRCm39)	S289P	probably damaging	Het
Rbm39	G	A	2: 156,019,266 (GRCm39)	R31C	possibly damaging	Het
Rhbdf2	C	A	11: 116,492,771 (GRCm39)	V417L	probably benign	Het
Rnf157	T	A	11: 116,246,298 (GRCm39)	E255D	possibly damaging	Het
Rpl6l	A	T	10: 110,962,304 (GRCm39)		noncoding transcript	Het
Sec24c	A	G	14: 20,743,813 (GRCm39)	D1006G	probably damaging	Het
Sh3bp1	G	T	15: 78,792,237 (GRCm39)	A401S	probably benign	Het
Slc17a8	A	T	10: 89,412,367 (GRCm39)	D539E	probably benign	Het
Slc38a9	T	A	13: 112,826,098 (GRCm39)	S136R	probably damaging	Het
Smoc2	A	C	17: 14,589,295 (GRCm39)	T255P	probably benign	Het
Smyd2	T	C	1: 189,628,847 (GRCm39)	D152G	probably damaging	Het
Stab1	A	G	14: 30,862,350 (GRCm39)	V2328A	probably damaging	Het
Taar2	A	G	10: 23,816,591 (GRCm39)	I44V	probably benign	Het
Tbc1d4	T	C	14: 101,682,144 (GRCm39)	K1251E	probably benign	Het
Thada	G	A	17: 84,754,027 (GRCm39)	L315F	probably damaging	Het
Trbv14	T	C	6: 41,112,259 (GRCm39)	S19P	probably benign	Het
Ttc39c	T	C	18: 12,820,173 (GRCm39)		probably benign	Het
Ttc39d	A	G	17: 80,524,527 (GRCm39)	I395M	probably benign	Het
Ttn	T	C	2: 76,548,728 (GRCm39)	E31891G	probably damaging	Het
Ubr3	T	C	2: 69,800,527 (GRCm39)	V950A	probably damaging	Het
Usp9y	T	A	Y: 1,307,920 (GRCm39)	K2305N	probably damaging	Het
Vmn1r158	G	A	7: 22,490,179 (GRCm39)	T10I	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r78	T	A	7: 86,603,916 (GRCm39)	I698K	possibly damaging	Het
Vmn2r86	G	T	10: 130,289,460 (GRCm39)	T145K	probably damaging	Het
Zfp51	T	C	17: 21,684,933 (GRCm39)	V516A	probably benign	Het
Zfp654	A	T	16: 64,606,145 (GRCm39)	S686T	probably benign	Het
Zfp846	T	A	9: 20,502,111 (GRCm39)	C55S	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
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
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'- AGCTCCCTGACTCACAGCTATTAG -3'

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

Posted On

2016-03-17