Incidental Mutation 'R2347:Fut2'
| ID |
246004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fut2
|
| Ensembl Gene |
ENSMUSG00000055978 |
| Gene Name |
fucosyltransferase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2347 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45298015-45315818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45299752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 340
(D340G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069800]
[ENSMUST00000210620]
|
| AlphaFold |
Q9JL27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069800
AA Change: D340G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063719
Gene: ENSMUSG00000055978
AA Change: D340G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_11
|
21 |
338 |
2.1e-139 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210213
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211324
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is one of three genes in mouse which encode a galactoside 2-L-fucosyltransferase. These genes differ in their developmental- and tissue-specific expression. The encoded type II membrane protein is anchored in the Golgi apparatus and controls the final step in the creation of alpha (1,2) fucosylated carbhohydrates by the addition of a terminal fucose in an alpha (1,2) linkage. This enzyme is involved in the synthesis of the Lewis antigen as well as the H-antigen, a precursor of the A and B antigens of the ABH histo-blood group. The biological function of the fucosylated carbhohydrate products is thought to involve cell-adhesion and interactions with microorganisms. Disruption of this gene results in altered glycosylation of gastric mucosa and uterine epithelia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. Females are somewhate more susceptible to infections withCandida albicans. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ces1a |
C |
T |
8: 93,751,947 (GRCm39) |
V396M |
probably benign |
Het |
| Ddx6 |
A |
G |
9: 44,518,888 (GRCm39) |
K67E |
probably benign |
Het |
| Gm128 |
A |
G |
3: 95,148,241 (GRCm39) |
Y18H |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,770,824 (GRCm39) |
D502G |
probably damaging |
Het |
| Lman2 |
T |
A |
13: 55,500,812 (GRCm39) |
N129I |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or12j2 |
T |
A |
7: 139,916,060 (GRCm39) |
M95K |
probably damaging |
Het |
| Or4c52 |
G |
T |
2: 89,845,958 (GRCm39) |
R228L |
possibly damaging |
Het |
| Or8g21 |
A |
T |
9: 38,905,805 (GRCm39) |
*309K |
probably null |
Het |
| Pappa2 |
C |
A |
1: 158,592,613 (GRCm39) |
C1588F |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,646,366 (GRCm39) |
D390G |
probably damaging |
Het |
| Rest |
A |
G |
5: 77,416,440 (GRCm39) |
Y218C |
probably damaging |
Het |
|
| Other mutations in Fut2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02814:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02831:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02982:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03071:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03090:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03126:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03146:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03151:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03179:Fut2
|
APN |
7 |
45,300,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03212:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03213:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03234:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03271:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03372:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03381:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03385:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03392:Fut2
|
APN |
7 |
45,300,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4515001:Fut2
|
UTSW |
7 |
45,299,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0553:Fut2
|
UTSW |
7 |
45,300,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Fut2
|
UTSW |
7 |
45,300,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Fut2
|
UTSW |
7 |
45,300,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3155:Fut2
|
UTSW |
7 |
45,300,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3156:Fut2
|
UTSW |
7 |
45,300,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4590:Fut2
|
UTSW |
7 |
45,300,370 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6311:Fut2
|
UTSW |
7 |
45,299,804 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6810:Fut2
|
UTSW |
7 |
45,299,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Fut2
|
UTSW |
7 |
45,300,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8135:Fut2
|
UTSW |
7 |
45,300,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Fut2
|
UTSW |
7 |
45,300,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9097:Fut2
|
UTSW |
7 |
45,300,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9462:Fut2
|
UTSW |
7 |
45,300,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Fut2
|
UTSW |
7 |
45,299,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATTGATAATGTCTGAGCTG -3'
(R):5'- AATGGTATTGAGGGCTCACCAG -3'
Sequencing Primer
(F):5'- CTGAGCTGTTAATGAATGTTGGAAC -3'
(R):5'- AAGGACTTCGCGCTCCTCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation