Incidental Mutation 'R6627:Lfng'
| ID |
524858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lfng
|
| Ensembl Gene |
ENSMUSG00000029570 |
| Gene Name |
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
| Synonyms |
lunatic fringe |
| MMRRC Submission |
044749-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.895)
|
| Stock # |
R6627 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
140593096-140601300 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140593523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 118
(V118A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031555]
|
| AlphaFold |
O09010 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031555
AA Change: V118A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031555
Gene: ENSMUSG00000029570
AA Change: V118A
| 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: ENSMUST00000200523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200626
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.1%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
T |
C |
18: 12,395,221 (GRCm39) |
N224S |
probably benign |
Het |
| Ccdc162 |
A |
G |
10: 41,539,181 (GRCm39) |
S396P |
probably damaging |
Het |
| Cd9 |
A |
G |
6: 125,439,375 (GRCm39) |
L119P |
possibly damaging |
Het |
| Cdk17 |
A |
C |
10: 93,068,274 (GRCm39) |
T311P |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,127,172 (GRCm39) |
D511G |
possibly damaging |
Het |
| Coq3 |
T |
C |
4: 21,908,607 (GRCm39) |
V286A |
possibly damaging |
Het |
| Cyp2j13 |
G |
A |
4: 95,947,343 (GRCm39) |
T236I |
probably damaging |
Het |
| Ddx46 |
T |
C |
13: 55,800,748 (GRCm39) |
V301A |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,907,097 (GRCm39) |
I4209F |
probably damaging |
Het |
| E2f5 |
G |
A |
3: 14,668,917 (GRCm39) |
E270K |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,784,647 (GRCm39) |
|
probably null |
Het |
| Esp24 |
C |
T |
17: 39,350,952 (GRCm39) |
Q51* |
probably null |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,709,753 (GRCm39) |
Q435K |
probably benign |
Het |
| Gpr17 |
T |
C |
18: 32,080,949 (GRCm39) |
Y38C |
probably damaging |
Het |
| Maco1 |
A |
G |
4: 134,563,654 (GRCm39) |
V110A |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,362,427 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
T |
G |
11: 67,105,835 (GRCm39) |
L1150R |
probably damaging |
Het |
| Plod3 |
T |
G |
5: 137,017,310 (GRCm39) |
I111S |
probably damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,746,970 (GRCm39) |
V66D |
probably damaging |
Het |
| Simc1 |
T |
G |
13: 54,694,887 (GRCm39) |
L323V |
probably damaging |
Het |
| Thnsl2 |
A |
G |
6: 71,111,199 (GRCm39) |
I223T |
possibly damaging |
Het |
| Tmem203 |
T |
C |
2: 25,145,785 (GRCm39) |
|
probably null |
Het |
| Tmppe |
A |
G |
9: 114,234,553 (GRCm39) |
D284G |
probably damaging |
Het |
| Ube2s |
C |
T |
7: 4,813,581 (GRCm39) |
R61H |
possibly 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 |
|
|
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'- ATAGATATTACGTGCGGCCG -3'
(R):5'- GCAATTAACGCATCGGGAAC -3'
Sequencing Primer
(F):5'- TGTCTCCTGGTGCTCACGG -3'
(R):5'- GGAACCGCTATCGTCAGTCAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation