Mutagenetix > Incidental Mutation

Incidental Mutation 'R8896:Lfng'

678020

Institutional Source

Beutler Lab

Gene Symbol

Lfng

Ensembl Gene

ENSMUSG00000029570

Gene Name

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Synonyms

lunatic fringe

MMRRC Submission

068698-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R8896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140593096-140601300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140598978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 296 (V296I)

Ref Sequence

ENSEMBL: ENSMUSP00000031555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031555]

AlphaFold

O09010

Predicted Effect

probably benign
Transcript: ENSMUST00000031555
AA Change: V296I

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031555
Gene: ENSMUSG00000029570
AA Change: V296I

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	37	60	N/A	INTRINSIC
Pfam:Fringe	107	357	9.6e-124	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

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 manic fringe genes. They all encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define 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. This gene product is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a short tail and abnormal rib, somite, and lung development. Mice homozygous mice exhibit reduced female fertility, abnormal hair cells, and abnormal axial skeleton morphology. [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
Aox4	T	G	1: 58,291,233 (GRCm39)	S784A	probably benign	Het
Ap3d1	T	A	10: 80,552,425 (GRCm39)	H581L	probably benign	Het
Atp11a	T	C	8: 12,899,781 (GRCm39)	Y915H	probably damaging	Het
Atp4b	T	C	8: 13,437,514 (GRCm39)	D213G	probably benign	Het
Bcl11a	A	G	11: 24,113,640 (GRCm39)	S328G	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cadps2	T	A	6: 23,410,876 (GRCm39)	Y685F	probably damaging	Het
Ccdc88b	C	T	19: 6,831,203 (GRCm39)	A580T	probably benign	Het
Cdc42bpa	GACAACA	GACA	1: 179,958,373 (GRCm39)		probably benign	Het
Cep152	A	T	2: 125,408,155 (GRCm39)	V1396D	possibly damaging	Het
Ces1c	T	C	8: 93,833,254 (GRCm39)	I404V	probably benign	Het
Cr2	A	T	1: 194,851,581 (GRCm39)	M137K	possibly damaging	Het
Cyp2d40	T	C	15: 82,644,454 (GRCm39)	Y257C	unknown	Het
Dennd1c	T	A	17: 57,381,512 (GRCm39)	D116V	probably damaging	Het
Dph2	G	A	4: 117,747,575 (GRCm39)	R270*	probably null	Het
Dpp8	A	C	9: 64,985,318 (GRCm39)	H792P	possibly damaging	Het
Dusp29	T	C	14: 21,736,763 (GRCm39)	D113G	probably benign	Het
Efs	T	C	14: 55,157,756 (GRCm39)	E185G	possibly damaging	Het
Eml3	A	G	19: 8,914,056 (GRCm39)	E480G	probably damaging	Het
Fam193a	A	G	5: 34,583,828 (GRCm39)	T336A	probably benign	Het
Fermt1	C	T	2: 132,783,852 (GRCm39)		probably benign	Het
Galnt4	T	A	10: 98,945,955 (GRCm39)	V560D	probably damaging	Het
Gbp2b	C	A	3: 142,309,327 (GRCm39)	T146K	probably damaging	Het
Gbp5	C	T	3: 142,211,308 (GRCm39)	T346I	probably damaging	Het
Glrx	G	T	13: 75,995,317 (GRCm39)	C79F	probably damaging	Het
Glt8d2	T	A	10: 82,490,616 (GRCm39)	T225S	probably damaging	Het
Grm3	A	G	5: 9,562,483 (GRCm39)	F456L	possibly damaging	Het
Gse1	T	G	8: 121,303,185 (GRCm39)	S1109A	unknown	Het
Gstp3	A	T	19: 4,108,573 (GRCm39)	L63Q	probably damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Herc4	T	A	10: 63,147,286 (GRCm39)	I801N	possibly damaging	Het
Ido1	G	T	8: 25,077,880 (GRCm39)	D153E	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnj9	T	A	1: 172,153,360 (GRCm39)	S255C	probably damaging	Het
Kpna3	T	C	14: 61,629,294 (GRCm39)	N39D	probably benign	Het
Krt39	A	T	11: 99,409,095 (GRCm39)	S269T	probably damaging	Het
Lrit3	T	A	3: 129,585,132 (GRCm39)	I209F	probably damaging	Het
Map4k5	T	A	12: 69,870,275 (GRCm39)	D523V	possibly damaging	Het
Mdn1	C	T	4: 32,678,328 (GRCm39)	P652L	probably benign	Het
Med30	G	A	15: 52,584,516 (GRCm39)	V145I	possibly damaging	Het
Megf6	T	A	4: 154,326,860 (GRCm39)	D163E	probably damaging	Het
Meltf	T	A	16: 31,709,522 (GRCm39)		probably benign	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mppe1	T	C	18: 67,370,472 (GRCm39)	D75G	probably damaging	Het
Muc4	C	T	16: 32,754,673 (GRCm38)	P1516S	probably benign	Het
Myo3b	C	A	2: 70,069,160 (GRCm39)	F494L	probably damaging	Het
Nedd4l	A	G	18: 65,298,688 (GRCm39)	T226A	probably benign	Het
Nod1	A	G	6: 54,921,277 (GRCm39)	V347A	probably benign	Het
Nup210	A	T	6: 91,019,235 (GRCm39)		probably null	Het
Nup210l	A	G	3: 90,025,932 (GRCm39)	R185G	probably damaging	Het
Oma1	T	C	4: 103,210,829 (GRCm39)	L445S	probably damaging	Het
Or13p10	A	T	4: 118,523,502 (GRCm39)	M263L	probably benign	Het
Or5ac20	A	T	16: 59,104,452 (GRCm39)	M136K	probably damaging	Het
Or8g36	A	G	9: 39,422,770 (GRCm39)	L82P	probably damaging	Het
Oxsm	A	T	14: 16,242,677 (GRCm38)	F31I	probably benign	Het
Pdcd5	A	T	7: 35,346,795 (GRCm39)	M1K	probably null	Het
Pkd1l2	T	C	8: 117,740,615 (GRCm39)	T2161A	possibly damaging	Het
Pla2g3	A	T	11: 3,442,151 (GRCm39)	S404C	probably null	Het
Plec	A	G	15: 76,078,560 (GRCm39)	V60A	unknown	Het
Prpsap2	A	G	11: 61,643,736 (GRCm39)	S66P	possibly damaging	Het
Rarb	A	G	14: 16,436,804 (GRCm38)	L239P	probably damaging	Het
Ryr3	A	T	2: 112,583,395 (GRCm39)	Y2845*	probably null	Het
Spta1	T	C	1: 174,045,548 (GRCm39)	C1569R	probably damaging	Het
Stard13	G	A	5: 150,986,115 (GRCm39)	S465L	probably damaging	Het
Tmub1	A	T	5: 24,651,680 (GRCm39)	S80T	probably benign	Het
Trpv5	A	G	6: 41,647,847 (GRCm39)	F322S	probably damaging	Het
Vmn2r5	G	A	3: 64,411,203 (GRCm39)	A455V	probably benign	Het
Washc4	T	A	10: 83,405,882 (GRCm39)	N459K	probably damaging	Het
Wdr11	C	T	7: 129,207,437 (GRCm39)	R300*	probably null	Het
Zer1	A	G	2: 29,993,430 (GRCm39)	F559L	probably damaging	Het
Zfat	A	T	15: 68,052,519 (GRCm39)	V425D	probably damaging	Het
Zfp738	G	A	13: 67,817,910 (GRCm39)	L694F		Het
Zfp839	C	T	12: 110,835,277 (GRCm39)	A844V	probably damaging	Het

Other mutations in Lfng

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Lfng	APN	5	140,598,290 (GRCm39)	missense	probably damaging	1.00
zigzag	UTSW	5	140,598,290 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Lfng	UTSW	5	140,598,283 (GRCm39)	missense	probably damaging	1.00
R2070:Lfng	UTSW	5	140,598,350 (GRCm39)	missense	possibly damaging	0.63
R2848:Lfng	UTSW	5	140,597,622 (GRCm39)	missense	probably damaging	1.00
R2849:Lfng	UTSW	5	140,597,622 (GRCm39)	missense	probably damaging	1.00
R4689:Lfng	UTSW	5	140,600,194 (GRCm39)	missense	probably damaging	0.99
R4936:Lfng	UTSW	5	140,598,150 (GRCm39)	splice site	probably null
R5516:Lfng	UTSW	5	140,599,018 (GRCm39)	missense	probably damaging	1.00
R5560:Lfng	UTSW	5	140,600,022 (GRCm39)	missense	possibly damaging	0.89
R6334:Lfng	UTSW	5	140,598,522 (GRCm39)	missense	possibly damaging	0.86
R6380:Lfng	UTSW	5	140,600,151 (GRCm39)	splice site	probably null
R6627:Lfng	UTSW	5	140,593,523 (GRCm39)	missense	probably damaging	1.00
R7832:Lfng	UTSW	5	140,598,588 (GRCm39)	missense	probably benign	0.07
R7853:Lfng	UTSW	5	140,593,384 (GRCm39)	missense	probably benign	0.01
R8367:Lfng	UTSW	5	140,598,981 (GRCm39)	missense	probably damaging	1.00
R8368:Lfng	UTSW	5	140,598,981 (GRCm39)	missense	probably damaging	1.00
R8384:Lfng	UTSW	5	140,598,981 (GRCm39)	missense	probably damaging	1.00
R8385:Lfng	UTSW	5	140,598,981 (GRCm39)	missense	probably damaging	1.00
R8407:Lfng	UTSW	5	140,598,981 (GRCm39)	missense	probably damaging	1.00
R8435:Lfng	UTSW	5	140,598,981 (GRCm39)	missense	probably damaging	1.00
R8494:Lfng	UTSW	5	140,598,981 (GRCm39)	missense	probably damaging	1.00
R9803:Lfng	UTSW	5	140,593,528 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCGGCATGGAAGGACTCTG -3'
(R):5'- AATTGTCCCTTCCTTGGAGGC -3'

Sequencing Primer
(F):5'- CATGGAAGGACTCTGGCTCATG -3'
(R):5'- GAGGCACCCTCTCCCTTCTG -3'

Posted On

2021-08-02