Incidental Mutation 'IGL03091:Fut1'
| ID |
418374 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fut1
|
| Ensembl Gene |
ENSMUSG00000008461 |
| Gene Name |
fucosyltransferase 1 |
| Synonyms |
H transferase |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03091
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45266862-45270483 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45268951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 302
(C302R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008605]
[ENSMUST00000033099]
[ENSMUST00000033100]
[ENSMUST00000209379]
[ENSMUST00000210150]
|
| AlphaFold |
O09160 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008605
AA Change: C302R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461
AA Change: C302R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_11
|
39 |
355 |
3.1e-126 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033099
|
| SMART Domains |
Protein: ENSMUSP00000033099
Gene: ENSMUSG00000030827
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
FGF
|
44 |
169 |
3.95e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033100
|
| SMART Domains |
Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
13 |
N/A |
INTRINSIC |
|
Pfam:IZUMO
|
21 |
166 |
2.6e-53 |
PFAM |
|
IG
|
167 |
253 |
2.43e-2 |
SMART |
|
transmembrane domain
|
320 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209379
AA Change: C247R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209590
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210150
|
| Coding Region Coverage |
|
| 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 required for 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 impairs development of the olfactory nerve and maturation of the glomerular layer of the main olfactory bulb. Alternative splicing results in multiple transcript variants which encode distinct isoforms. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous null mice are viable and healthy, lack alpha(1,2)fucose residues from the apical surface of pancreatic acinar glands and are deficient in epididymal cell surface alpha(1,2)fucosylated glycans but show normal male fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
A |
T |
4: 126,352,982 (GRCm39) |
Y314N |
probably damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,219 (GRCm39) |
T78A |
possibly damaging |
Het |
| Arhgap33 |
G |
A |
7: 30,227,718 (GRCm39) |
P494S |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,943,022 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,691,386 (GRCm39) |
V174A |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,470,863 (GRCm39) |
R811C |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,016,897 (GRCm39) |
H598Q |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,041,228 (GRCm39) |
S211L |
probably damaging |
Het |
| Duox2 |
T |
G |
2: 122,119,955 (GRCm39) |
M852L |
probably benign |
Het |
| Fmc1 |
G |
T |
6: 38,516,170 (GRCm39) |
S72I |
probably damaging |
Het |
| Gm6401 |
T |
C |
14: 41,786,615 (GRCm39) |
T184A |
possibly damaging |
Het |
| Gsdma2 |
C |
T |
11: 98,542,828 (GRCm39) |
T29I |
probably damaging |
Het |
| Lgi2 |
C |
A |
5: 52,721,307 (GRCm39) |
|
probably null |
Het |
| Lipe |
A |
G |
7: 25,080,180 (GRCm39) |
L926P |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,993 (GRCm39) |
I2511F |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
G |
3: 55,992,725 (GRCm39) |
S294P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,161,324 (GRCm39) |
H2156L |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,885,951 (GRCm39) |
N335K |
probably damaging |
Het |
| Nox3 |
G |
T |
17: 3,716,119 (GRCm39) |
Q429K |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,441,076 (GRCm39) |
Y102* |
probably null |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,564 (GRCm39) |
R1671G |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,073,503 (GRCm39) |
T504A |
possibly damaging |
Het |
| Pou5f1 |
G |
T |
17: 35,820,939 (GRCm39) |
R127L |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,523,174 (GRCm39) |
|
probably benign |
Het |
| Rassf8 |
T |
A |
6: 145,761,536 (GRCm39) |
N287K |
probably benign |
Het |
| Rdh16 |
T |
C |
10: 127,649,502 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,782,911 (GRCm39) |
A1901V |
possibly damaging |
Het |
| Scnn1g |
A |
G |
7: 121,345,906 (GRCm39) |
Y343C |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,538,880 (GRCm39) |
|
probably benign |
Het |
| Slc9b2 |
G |
A |
3: 135,034,791 (GRCm39) |
V310M |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,646,222 (GRCm39) |
I477F |
possibly damaging |
Het |
| Terb1 |
A |
T |
8: 105,195,786 (GRCm39) |
H548Q |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,319 (GRCm39) |
M547I |
possibly damaging |
Het |
| Tuba8 |
G |
A |
6: 121,197,403 (GRCm39) |
E22K |
probably damaging |
Het |
| Wee2 |
T |
C |
6: 40,438,968 (GRCm39) |
F364L |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,724 (GRCm39) |
Y608H |
probably damaging |
Het |
|
| Other mutations in Fut1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Fut1
|
APN |
7 |
45,268,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02015:Fut1
|
APN |
7 |
45,268,399 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02232:Fut1
|
APN |
7 |
45,268,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02934:Fut1
|
APN |
7 |
45,268,127 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02976:Fut1
|
APN |
7 |
45,268,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03169:Fut1
|
APN |
7 |
45,268,457 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0107:Fut1
|
UTSW |
7 |
45,268,270 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0107:Fut1
|
UTSW |
7 |
45,268,270 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1413:Fut1
|
UTSW |
7 |
45,268,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2039:Fut1
|
UTSW |
7 |
45,268,415 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2403:Fut1
|
UTSW |
7 |
45,268,643 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2516:Fut1
|
UTSW |
7 |
45,268,622 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3429:Fut1
|
UTSW |
7 |
45,268,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Fut1
|
UTSW |
7 |
45,268,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Fut1
|
UTSW |
7 |
45,268,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Fut1
|
UTSW |
7 |
45,268,730 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6961:Fut1
|
UTSW |
7 |
45,268,963 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7052:Fut1
|
UTSW |
7 |
45,269,181 (GRCm39) |
makesense |
probably null |
|
|
R8027:Fut1
|
UTSW |
7 |
45,268,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fut1
|
UTSW |
7 |
45,268,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation