Mutagenetix > Incidental Mutation

Incidental Mutation 'R2849:Lfng'

251939

Institutional Source

Beutler Lab

Gene Symbol

Lfng

Ensembl Gene

ENSMUSG00000029570

Gene Name

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Synonyms

lunatic fringe

MMRRC Submission

040442-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R2849 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140593096-140601300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140597622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 149 (D149E)

Ref Sequence

ENSEMBL: ENSMUSP00000031555 (fasta)

Gene Model

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

AlphaFold

O09010

Predicted Effect

probably damaging
Transcript: ENSMUST00000031555
AA Change: D149E

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

SMART Domains

Protein: ENSMUSP00000031555
Gene: ENSMUSG00000029570
AA Change: D149E

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Abca8a	T	C	11: 109,932,931 (GRCm39)	D1231G	probably damaging	Het
Adcy7	A	G	8: 89,054,021 (GRCm39)	I1017V	probably benign	Het
Agpat2	A	G	2: 26,487,251 (GRCm39)	I109T	probably damaging	Het
Aldh9a1	G	A	1: 167,180,197 (GRCm39)	R97H	probably damaging	Het
Als2	G	A	1: 59,245,697 (GRCm39)	T593M	probably damaging	Het
Ap3d1	G	C	10: 80,577,742 (GRCm39)	H28Q	possibly damaging	Het
Atxn1	A	T	13: 45,720,175 (GRCm39)	D573E	probably damaging	Het
Begain	T	A	12: 108,999,044 (GRCm39)	M576L	probably benign	Het
Bod1l	T	C	5: 41,995,419 (GRCm39)	N109S	probably damaging	Het
Boll	A	G	1: 55,385,532 (GRCm39)	M131T	possibly damaging	Het
Celf2	T	C	2: 6,608,936 (GRCm39)	R282G	probably damaging	Het
Cers2	T	C	3: 95,229,770 (GRCm39)	F330L	probably benign	Het
Chst13	T	C	6: 90,286,140 (GRCm39)	D274G	probably benign	Het
Cimap1a	A	G	7: 140,429,182 (GRCm39)	T156A	probably benign	Het
Cstdc5	T	A	16: 36,187,814 (GRCm39)	Q17L	probably damaging	Het
Dclk2	A	G	3: 86,700,530 (GRCm39)	V649A	probably damaging	Het
Deaf1	T	C	7: 140,894,367 (GRCm39)	*54W	probably null	Het
Fbf1	C	T	11: 116,048,514 (GRCm39)		probably null	Het
Fbxo32	C	T	15: 58,071,368 (GRCm39)	S71N	probably benign	Het
Fbxo42	T	A	4: 140,927,821 (GRCm39)	N700K	probably damaging	Het
Fis1	T	C	5: 136,991,971 (GRCm39)	I55T	possibly damaging	Het
Fyco1	A	T	9: 123,663,891 (GRCm39)	L121*	probably null	Het
Gm2381	G	A	7: 42,469,831 (GRCm39)	P98S	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtf2ird1	G	A	5: 134,387,861 (GRCm39)	T946I	probably damaging	Het
Hmcn1	G	T	1: 150,439,350 (GRCm39)	Y5494*	probably null	Het
Josd2	A	G	7: 44,118,397 (GRCm39)		probably null	Het
Lrp1	C	T	10: 127,378,165 (GRCm39)	A4052T	probably damaging	Het
Lrrtm3	T	C	10: 63,924,810 (GRCm39)	N119S	probably damaging	Het
Lypd6	C	T	2: 50,055,664 (GRCm39)	P38L	probably damaging	Het
Msl3l2	T	C	10: 55,991,538 (GRCm39)	C88R	probably benign	Het
Nsd1	A	G	13: 55,361,505 (GRCm39)	T158A	probably damaging	Het
Nudt22	A	T	19: 6,970,852 (GRCm39)	S239R	probably benign	Het
Or4g7	T	C	2: 111,309,699 (GRCm39)	M190T	probably benign	Het
Or52r1c	A	T	7: 102,735,319 (GRCm39)	D193V	probably damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Otop3	T	C	11: 115,235,384 (GRCm39)	F339L	probably damaging	Het
Pcdhga10	T	A	18: 37,881,253 (GRCm39)	V338E	possibly damaging	Het
Pcnx2	A	G	8: 126,487,666 (GRCm39)	F1779S	probably damaging	Het
Plxna4	T	C	6: 32,162,467 (GRCm39)	K1349E	probably damaging	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Ppp4r4	T	C	12: 103,573,192 (GRCm39)	V697A	probably benign	Het
Ptpra	C	A	2: 130,386,919 (GRCm39)	H603Q	probably benign	Het
Rnf10	T	C	5: 115,387,171 (GRCm39)	D439G	probably benign	Het
Rnf43	T	A	11: 87,623,093 (GRCm39)	N731K	probably benign	Het
Slc2a4	T	A	11: 69,836,997 (GRCm39)	N116Y	probably damaging	Het
Slc6a15	C	A	10: 103,240,552 (GRCm39)	H392N	probably benign	Het
Slco6d1	C	T	1: 98,394,441 (GRCm39)	T375I	probably benign	Het
Smpd4	A	G	16: 17,460,076 (GRCm39)	D436G	probably damaging	Het
Spata22	G	A	11: 73,244,571 (GRCm39)	W311*	probably null	Het
Syt3	G	A	7: 44,042,866 (GRCm39)	V383I	probably benign	Het
Tle6	T	A	10: 81,430,235 (GRCm39)	I306F	probably damaging	Het
Tox3	G	A	8: 90,975,018 (GRCm39)	Q538*	probably null	Het
Trim24	T	A	6: 37,933,388 (GRCm39)	S656T	probably damaging	Het
Trnau1ap	C	A	4: 132,049,045 (GRCm39)	V119F	possibly damaging	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn1r82	T	C	7: 12,039,333 (GRCm39)	V202A	probably damaging	Het
Zfp607b	G	A	7: 27,401,819 (GRCm39)	V92I	probably benign	Het
Zfp964	G	C	8: 70,116,504 (GRCm39)	C368S	unknown	Het
Zw10	A	G	9: 48,968,941 (GRCm39)		probably null	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
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
R9803:Lfng	UTSW	5	140,593,528 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGAAGTTGGAGAGTGAGCCC -3'
(R):5'- CTCTGCATAAGAATCGGGGC -3'

Sequencing Primer
(F):5'- TTGGAGAGTGAGCCCACCTC -3'
(R):5'- GAGTGAACTGGCCTCTTA -3'

Posted On

2014-12-04