Incidental Mutation 'R5146:Mfng'
| ID |
395128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfng
|
| Ensembl Gene |
ENSMUSG00000018169 |
| Gene Name |
MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
| Synonyms |
manic fringe |
| MMRRC Submission |
042730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R5146 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78640082-78657675 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78648588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 163
(R163H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018313]
|
| AlphaFold |
O09008 |
| PDB Structure |
STRUCTURE OF THE CATALYTIC DOMAIN OF MOUSE MANIC FRINGE [X-RAY DIFFRACTION]
STRUCTURE OF THE CATALYTIC DOMAIN OF MOUSE MANIC FRINGE IN COMPLEX WITH UDP AND MANGANESE [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018313
AA Change: R163H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018313
Gene: ENSMUSG00000018169
AA Change: R163H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Fringe
|
49 |
300 |
6.9e-114 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136795
|
| Meta Mutation Damage Score |
0.1111 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
97% (35/36) |
| 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 lunatic fringe genes. They all encode evolutionarily conserved secreted proteins that act in the Notch receptor pathway to demarcate 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. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null mutation exhibit normal pancreatic development, morphology and physiology. Mice homozygous for a different knock-out allele exhibit altered lymphocyte numbers, abnormal circulating factors II, VII, IX and XI, and decreased prothrombin and partial thromboplastin time. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,289,799 (GRCm39) |
D1498G |
possibly damaging |
Het |
| Adcyap1r1 |
A |
G |
6: 55,461,957 (GRCm39) |
I329V |
probably benign |
Het |
| Ahnak2 |
A |
C |
12: 112,742,160 (GRCm39) |
H637Q |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,734,636 (GRCm39) |
D455G |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 109,922,042 (GRCm39) |
T45A |
probably damaging |
Het |
| Chil4 |
T |
A |
3: 106,110,150 (GRCm39) |
T315S |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,320,842 (GRCm39) |
V138A |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,246,204 (GRCm39) |
D1065G |
probably damaging |
Het |
| Cspp1 |
C |
T |
1: 10,145,101 (GRCm39) |
R296* |
probably null |
Het |
| Dnah17 |
A |
G |
11: 118,005,005 (GRCm39) |
M793T |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,699,491 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
G |
T |
13: 55,313,725 (GRCm39) |
L511F |
probably damaging |
Het |
| Gm14415 |
T |
C |
2: 176,796,024 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,082,378 (GRCm39) |
V91A |
probably damaging |
Het |
| Grin2b |
T |
A |
6: 135,756,340 (GRCm39) |
I462F |
probably damaging |
Het |
| Grwd1 |
A |
T |
7: 45,477,258 (GRCm39) |
F210I |
probably damaging |
Het |
| H2-T9 |
A |
G |
17: 36,439,907 (GRCm39) |
W76R |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 86,445,497 (GRCm39) |
*611W |
probably null |
Het |
| Kcna2 |
T |
C |
3: 107,012,814 (GRCm39) |
V465A |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,782,024 (GRCm39) |
T1444A |
probably benign |
Het |
| Nlgn3 |
G |
A |
X: 100,361,891 (GRCm39) |
V287I |
probably benign |
Het |
| Oas1c |
A |
G |
5: 120,940,159 (GRCm39) |
S336P |
probably benign |
Het |
| Pirb |
T |
C |
7: 3,715,620 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
A |
T |
17: 55,979,865 (GRCm39) |
Y330* |
probably null |
Het |
| Rnf20 |
A |
T |
4: 49,651,456 (GRCm39) |
M641L |
probably benign |
Het |
| Sppl2b |
T |
C |
10: 80,703,474 (GRCm39) |
*579Q |
probably null |
Het |
| Sumf1 |
G |
A |
6: 108,162,271 (GRCm39) |
P83S |
probably benign |
Het |
| Tmem101 |
C |
T |
11: 102,045,450 (GRCm39) |
R133Q |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,700,707 (GRCm39) |
|
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,971 (GRCm39) |
Y750H |
probably damaging |
Het |
| Zfp873 |
A |
G |
10: 81,896,058 (GRCm39) |
Y300C |
probably damaging |
Het |
|
| Other mutations in Mfng |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0389:Mfng
|
UTSW |
15 |
78,648,637 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0504:Mfng
|
UTSW |
15 |
78,641,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1905:Mfng
|
UTSW |
15 |
78,657,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3871:Mfng
|
UTSW |
15 |
78,640,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4845:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R4872:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R4874:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R4925:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R4934:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R5006:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R5029:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R5048:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R5064:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R5067:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R5143:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R5145:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R5266:Mfng
|
UTSW |
15 |
78,648,588 (GRCm39) |
missense |
probably benign |
|
|
R5969:Mfng
|
UTSW |
15 |
78,648,582 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6012:Mfng
|
UTSW |
15 |
78,640,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6654:Mfng
|
UTSW |
15 |
78,643,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Mfng
|
UTSW |
15 |
78,657,268 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7793:Mfng
|
UTSW |
15 |
78,657,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8292:Mfng
|
UTSW |
15 |
78,657,370 (GRCm39) |
missense |
probably benign |
|
|
R9021:Mfng
|
UTSW |
15 |
78,657,348 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9289:Mfng
|
UTSW |
15 |
78,643,457 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCCATGGTGATTCTAGGTGG -3'
(R):5'- CTCCCTGACTCACAGCTATTAG -3'
Sequencing Primer
(F):5'- CAAGACAGGGCTCTCTGATG -3'
(R):5'- CTATTAGCTGTTGACCTCGGGGAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation