Mutagenetix > Incidental Mutation

Incidental Mutation 'R6380:Lfng'

515259

Institutional Source

Beutler Lab

Gene Symbol

Lfng

Ensembl Gene

ENSMUSG00000029570

Gene Name

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Synonyms

lunatic fringe

MMRRC Submission

044529-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R6380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140593096-140601300 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 140600151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031555 (fasta)

Gene Model

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

AlphaFold

O09010

Predicted Effect

probably null
Transcript: ENSMUST00000031555

SMART Domains

Protein: ENSMUSP00000031555
Gene: ENSMUSG00000029570

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

Predicted Effect

probably null
Transcript: ENSMUST00000031555

SMART Domains

Protein: ENSMUSP00000031555
Gene: ENSMUSG00000029570

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200626

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.5%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	G	A	6: 91,900,118 (GRCm39)	G424D	probably damaging	Het
Aco1	T	C	4: 40,185,028 (GRCm39)	V566A	probably benign	Het
Adat1	G	T	8: 112,704,704 (GRCm39)	T414K	probably benign	Het
Alox12e	A	G	11: 70,211,927 (GRCm39)	V194A	probably benign	Het
Anpep	A	G	7: 79,491,644 (GRCm39)	V119A	probably benign	Het
Atat1	C	A	17: 36,219,849 (GRCm39)		probably null	Het
Atp10a	G	A	7: 58,469,432 (GRCm39)	W1094*	probably null	Het
Bcl11b	T	C	12: 107,969,360 (GRCm39)	R15G	probably benign	Het
Bltp1	A	G	3: 37,087,456 (GRCm39)	D4019G	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
Ccnd1	A	G	7: 144,493,306 (GRCm39)	V42A	probably benign	Het
Cdyl2	T	A	8: 117,309,923 (GRCm39)	K344N	probably damaging	Het
Cep68	A	G	11: 20,180,498 (GRCm39)	M711T	probably benign	Het
Cyp2j7	A	G	4: 96,118,211 (GRCm39)		probably null	Het
Cyp3a25	A	T	5: 145,935,357 (GRCm39)	D86E	probably damaging	Het
Dclk1	G	T	3: 55,154,615 (GRCm39)	R15L	probably damaging	Het
Dpy19l1	T	A	9: 24,393,341 (GRCm39)	K143*	probably null	Het
Duox2	A	G	2: 122,111,483 (GRCm39)	V1405A	probably benign	Het
Filip1	T	C	9: 79,726,906 (GRCm39)	E571G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Jph1	T	C	1: 17,162,071 (GRCm39)	N197S	probably damaging	Het
Kcnt2	T	C	1: 140,437,322 (GRCm39)	L535S	probably damaging	Het
Lepr	C	A	4: 101,622,151 (GRCm39)	S361*	probably null	Het
Lpcat2	G	A	8: 93,613,209 (GRCm39)	A250T	probably benign	Het
Mab21l4	G	A	1: 93,088,613 (GRCm39)		probably null	Het
Map3k4	A	T	17: 12,490,954 (GRCm39)	M159K	possibly damaging	Het
Notch3	A	T	17: 32,363,533 (GRCm39)	C1177S	probably damaging	Het
Olfml2b	C	T	1: 170,496,800 (GRCm39)	P477L	probably benign	Het
Or51a5	A	T	7: 102,771,136 (GRCm39)	F281Y	probably benign	Het
Or5k16	T	A	16: 58,736,627 (GRCm39)	I126L	probably damaging	Het
Or6c33	A	T	10: 129,853,782 (GRCm39)	H184L	probably benign	Het
Pald1	G	T	10: 61,186,714 (GRCm39)	F146L	possibly damaging	Het
Pcdhga1	A	G	18: 37,796,022 (GRCm39)	D342G	probably damaging	Het
Plcb2	T	C	2: 118,545,949 (GRCm39)	S579G	probably damaging	Het
Prdm16	A	T	4: 154,425,824 (GRCm39)	S654T	probably benign	Het
Rab3gap2	C	A	1: 184,968,181 (GRCm39)	L178I	probably damaging	Het
Rbfox1	C	T	16: 7,042,214 (GRCm39)	Q23*	probably null	Het
Slc14a2	T	G	18: 78,190,190 (GRCm39)	T920P	probably benign	Het
Slc17a6	G	A	7: 51,317,211 (GRCm39)	V411M	probably benign	Het
Stard6	G	A	18: 70,609,459 (GRCm39)	V33I	probably benign	Het
Syce1	A	T	7: 140,358,978 (GRCm39)	H178Q	probably damaging	Het
Syne2	T	A	12: 76,151,754 (GRCm39)	F1872I	probably damaging	Het
Tor1aip1	T	C	1: 155,894,234 (GRCm39)	E274G	possibly damaging	Het
Trpm1	A	T	7: 63,918,045 (GRCm39)	T462S	probably benign	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn1r178	A	G	7: 23,592,984 (GRCm39)	T11A	possibly damaging	Het
Vmn2r69	A	T	7: 85,061,067 (GRCm39)	N172K	probably benign	Het
Whrn	G	T	4: 63,336,829 (GRCm39)	P136T	possibly damaging	Het
Zfhx4	A	G	3: 5,478,170 (GRCm39)	N3570S	probably damaging	Het
Zfp689	A	G	7: 127,043,968 (GRCm39)	S221P	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
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
R8896:Lfng	UTSW	5	140,598,978 (GRCm39)	missense	probably benign	0.15
R9803:Lfng	UTSW	5	140,593,528 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACGCAGTGCACATCAAGG -3'
(R):5'- TGAAGAACACGACTGCCCAG -3'

Sequencing Primer
(F):5'- ACATCAAGGGACCATTCTCTGTGG -3'
(R):5'- ATAGCCCTGAAGAGCCTCG -3'

Posted On

2018-05-04