Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Lfng'

735309

Institutional Source

Beutler Lab

Gene Symbol

Lfng

Ensembl Gene

ENSMUSG00000029570

Gene Name

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Synonyms

lunatic fringe

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140593096-140601300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140593528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 120 (T120A)

Ref Sequence

ENSEMBL: ENSMUSP00000031555 (fasta)

Gene Model

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

AlphaFold

O09010

Predicted Effect

probably damaging
Transcript: ENSMUST00000031555
AA Change: T120A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031555
Gene: ENSMUSG00000029570
AA Change: T120A

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,841,964 (GRCm39)	S52P	unknown	Het
Ank2	A	G	3: 126,752,726 (GRCm39)	M330T	possibly damaging	Het
Ankar	C	T	1: 72,698,340 (GRCm39)	V905I	possibly damaging	Het
Anln	G	T	9: 22,283,518 (GRCm39)	D438E	probably damaging	Het
C1ql3	T	C	2: 13,009,200 (GRCm39)	N215S	probably damaging	Het
Ccdc110	A	G	8: 46,395,626 (GRCm39)	S506G	probably benign	Het
Ccdc87	A	G	19: 4,891,175 (GRCm39)	T556A	probably benign	Het
Cma1	A	T	14: 56,179,186 (GRCm39)	N236K	probably benign	Het
Csmd2	T	C	4: 128,262,986 (GRCm39)	F724S		Het
Cts8	T	C	13: 61,401,136 (GRCm39)	K130R	possibly damaging	Het
Daam1	A	T	12: 71,990,922 (GRCm39)	T179S	unknown	Het
Fancd2os	T	C	6: 113,574,938 (GRCm39)	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,394,866 (GRCm39)	I168N	probably damaging	Het
Gckr	G	A	5: 31,457,368 (GRCm39)	G127D	probably damaging	Het
Gm11444	G	A	11: 85,737,699 (GRCm39)	Q164*	probably null	Het
Gm28042	T	A	2: 119,868,984 (GRCm39)	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,068,722 (GRCm39)	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,499,247 (GRCm39)	H198Q	possibly damaging	Het
Hps6	T	A	19: 45,993,947 (GRCm39)	L628*	probably null	Het
Igha	G	A	12: 113,222,759 (GRCm39)	H221Y		Het
Ighm	A	G	12: 113,382,635 (GRCm39)	S453P		Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Lrrc4	C	T	6: 28,662,199 (GRCm39)	A172T	probably benign	Het
Lrrc56	A	G	7: 140,787,520 (GRCm39)	T386A	probably benign	Het
Mapkbp1	A	T	2: 119,841,256 (GRCm39)	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mrto4	T	A	4: 139,076,381 (GRCm39)	N70I	probably damaging	Het
Mxra8	C	T	4: 155,924,282 (GRCm39)		probably benign	Het
Myo1h	A	G	5: 114,483,997 (GRCm39)	E548G		Het
Ncan	C	T	8: 70,560,751 (GRCm39)	D739N	probably benign	Het
Or2t45	T	C	11: 58,669,595 (GRCm39)	V214A	probably benign	Het
Oxgr1	T	C	14: 120,259,563 (GRCm39)	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,885,088 (GRCm39)	V86E	probably damaging	Het
Pclo	G	A	5: 14,762,629 (GRCm39)	V416M		Het
Phf3	G	T	1: 30,869,872 (GRCm39)	T392K	probably benign	Het
Pkhd1	A	T	1: 20,637,073 (GRCm39)	V379E	probably damaging	Het
Ppfia3	T	C	7: 44,990,539 (GRCm39)	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,729,217 (GRCm39)	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,658,416 (GRCm39)	D384E	probably benign	Het
Rergl	A	G	6: 139,477,761 (GRCm39)	F23L	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Sidt2	A	G	9: 45,854,912 (GRCm39)	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,118,066 (GRCm39)	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,107,980 (GRCm39)	D474V	probably damaging	Het
Tenm4	G	A	7: 96,202,685 (GRCm39)	G100D	probably damaging	Het
Tmem258	G	A	19: 10,184,637 (GRCm39)	V75I	probably benign	Het
Tmem91	G	T	7: 25,369,988 (GRCm39)	H95N	probably damaging	Het
Trps1	T	C	15: 50,710,090 (GRCm39)	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,920,680 (GRCm39)	M209K	probably benign	Het
Tspan17	C	A	13: 54,941,092 (GRCm39)	Q124K	probably benign	Het
Uts2b	G	A	16: 27,179,692 (GRCm39)	R105*	probably null	Het
Vmn2r110	T	A	17: 20,803,730 (GRCm39)	T282S	probably benign	Het
Xdh	T	A	17: 74,229,455 (GRCm39)	M333L	probably benign	Het
Zbtb3	A	G	19: 8,781,833 (GRCm39)	E482G	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
R8896:Lfng	UTSW	5	140,598,978 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TAGATATTACGTGCGGCCGC -3'
(R):5'- AAGCAATTAACGCATCGGGAAC -3'

Sequencing Primer
(F):5'- TGTCTCCTGGTGCTCACGG -3'
(R):5'- GGAACCGCTATCGTCAGTCAC -3'

Posted On

2022-11-14