Incidental Mutation 'IGL00231:Fut8'
ID |
2187 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fut8
|
Ensembl Gene |
ENSMUSG00000021065 |
Gene Name |
fucosyltransferase 8 |
Synonyms |
alpha (1,6) fucosyltransferase |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00231
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
77284899-77523112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77495262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 284
(K284R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062804]
[ENSMUST00000171770]
[ENSMUST00000177595]
|
AlphaFold |
Q9WTS2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062804
AA Change: K284R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000054530 Gene: ENSMUSG00000021065 AA Change: K284R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
SH3
|
505 |
562 |
1.13e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171770
AA Change: K284R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130845 Gene: ENSMUSG00000021065 AA Change: K284R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
SH3
|
505 |
562 |
1.13e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177595
AA Change: K284R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000136327 Gene: ENSMUSG00000021065 AA Change: K284R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
SH3
|
505 |
562 |
1.13e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218851
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219299
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] PHENOTYPE: Homozygous null mutation of this gene results in partial postnatal lethality, growth retardation, and progressive emphysema-like changes that include enlarged alveoli, increased lung capacity and compliance, and alveolar cell apoptosis. Postnatal survival is sensitive to genetic background. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
G |
4: 86,303,877 (GRCm39) |
T1346A |
probably benign |
Het |
Ccdc102a |
T |
C |
8: 95,638,266 (GRCm39) |
|
probably null |
Het |
Cgrrf1 |
T |
C |
14: 47,069,779 (GRCm39) |
F16S |
probably damaging |
Het |
Clybl |
T |
C |
14: 122,616,610 (GRCm39) |
|
probably benign |
Het |
Cubn |
T |
C |
2: 13,386,660 (GRCm39) |
E1535G |
possibly damaging |
Het |
Dmrtc1b |
C |
A |
X: 101,757,233 (GRCm39) |
P226H |
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,979,040 (GRCm39) |
A1784V |
possibly damaging |
Het |
Dnajc24 |
A |
G |
2: 105,832,348 (GRCm39) |
Y12H |
probably damaging |
Het |
Drd1 |
T |
C |
13: 54,207,486 (GRCm39) |
T236A |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,835,707 (GRCm39) |
V1934D |
unknown |
Het |
Flt1 |
A |
G |
5: 147,517,110 (GRCm39) |
|
probably null |
Het |
Hcn1 |
A |
G |
13: 118,112,529 (GRCm39) |
E831G |
probably damaging |
Het |
Inpp5j |
A |
T |
11: 3,450,009 (GRCm39) |
|
probably benign |
Het |
Insig2 |
A |
G |
1: 121,233,676 (GRCm39) |
Y213H |
probably damaging |
Het |
Kcnh4 |
G |
A |
11: 100,647,821 (GRCm39) |
|
probably benign |
Het |
Kifc2 |
T |
A |
15: 76,551,662 (GRCm39) |
|
probably benign |
Het |
Krt75 |
T |
C |
15: 101,481,081 (GRCm39) |
E231G |
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mfsd4b2 |
T |
A |
10: 39,801,057 (GRCm39) |
|
probably benign |
Het |
Micall2 |
T |
A |
5: 139,703,311 (GRCm39) |
|
probably null |
Het |
Or10ag2 |
A |
G |
2: 87,248,910 (GRCm39) |
T173A |
possibly damaging |
Het |
Or8s5 |
C |
T |
15: 98,238,054 (GRCm39) |
S256N |
possibly damaging |
Het |
Osbp2 |
C |
T |
11: 3,676,561 (GRCm39) |
D287N |
possibly damaging |
Het |
Plin1 |
A |
G |
7: 79,376,408 (GRCm39) |
|
probably benign |
Het |
Ppl |
T |
C |
16: 4,907,409 (GRCm39) |
N962S |
probably benign |
Het |
Psg25 |
C |
T |
7: 18,260,106 (GRCm39) |
|
probably benign |
Het |
Ptprt |
A |
T |
2: 161,652,544 (GRCm39) |
D601E |
probably benign |
Het |
S100a7l2 |
A |
G |
3: 90,995,665 (GRCm39) |
M79T |
probably benign |
Het |
Sbno2 |
C |
A |
10: 79,900,340 (GRCm39) |
|
probably benign |
Het |
Sntg2 |
T |
C |
12: 30,326,720 (GRCm39) |
D147G |
probably benign |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Stam2 |
T |
A |
2: 52,596,418 (GRCm39) |
I307F |
possibly damaging |
Het |
Tbx21 |
T |
G |
11: 96,989,749 (GRCm39) |
E481A |
probably damaging |
Het |
Tsc2 |
G |
A |
17: 24,827,081 (GRCm39) |
T876I |
probably damaging |
Het |
Wdfy4 |
T |
C |
14: 32,824,496 (GRCm39) |
I1308V |
possibly damaging |
Het |
Wdr37 |
C |
T |
13: 8,870,541 (GRCm39) |
V143I |
probably damaging |
Het |
Wdr43 |
T |
G |
17: 71,959,809 (GRCm39) |
Y550D |
probably damaging |
Het |
Wnk4 |
A |
G |
11: 101,159,574 (GRCm39) |
D593G |
possibly damaging |
Het |
|
Other mutations in Fut8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00841:Fut8
|
APN |
12 |
77,412,095 (GRCm39) |
missense |
probably benign |
|
IGL01660:Fut8
|
APN |
12 |
77,497,032 (GRCm39) |
nonsense |
probably null |
|
IGL02330:Fut8
|
APN |
12 |
77,497,017 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02815:Fut8
|
APN |
12 |
77,411,857 (GRCm39) |
missense |
probably benign |
|
IGL02836:Fut8
|
APN |
12 |
77,496,987 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02981:Fut8
|
APN |
12 |
77,521,812 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03328:Fut8
|
APN |
12 |
77,412,003 (GRCm39) |
missense |
probably damaging |
0.99 |
Seaweed
|
UTSW |
12 |
77,522,089 (GRCm39) |
makesense |
probably null |
|
R0001:Fut8
|
UTSW |
12 |
77,522,089 (GRCm39) |
makesense |
probably null |
|
R0037:Fut8
|
UTSW |
12 |
77,411,811 (GRCm39) |
missense |
probably benign |
|
R0115:Fut8
|
UTSW |
12 |
77,495,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R0334:Fut8
|
UTSW |
12 |
77,440,536 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0481:Fut8
|
UTSW |
12 |
77,495,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R0554:Fut8
|
UTSW |
12 |
77,411,744 (GRCm39) |
missense |
probably benign |
0.00 |
R0671:Fut8
|
UTSW |
12 |
77,521,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R1491:Fut8
|
UTSW |
12 |
77,495,448 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1918:Fut8
|
UTSW |
12 |
77,378,992 (GRCm39) |
missense |
probably benign |
0.25 |
R2336:Fut8
|
UTSW |
12 |
77,459,730 (GRCm39) |
splice site |
probably benign |
|
R2975:Fut8
|
UTSW |
12 |
77,411,787 (GRCm39) |
missense |
probably benign |
0.20 |
R3933:Fut8
|
UTSW |
12 |
77,522,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R4066:Fut8
|
UTSW |
12 |
77,510,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R4067:Fut8
|
UTSW |
12 |
77,510,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R4159:Fut8
|
UTSW |
12 |
77,440,523 (GRCm39) |
missense |
probably damaging |
0.98 |
R4728:Fut8
|
UTSW |
12 |
77,521,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R4768:Fut8
|
UTSW |
12 |
77,412,054 (GRCm39) |
missense |
probably benign |
0.12 |
R4831:Fut8
|
UTSW |
12 |
77,440,603 (GRCm39) |
missense |
probably damaging |
0.99 |
R4914:Fut8
|
UTSW |
12 |
77,521,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R4915:Fut8
|
UTSW |
12 |
77,521,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R4917:Fut8
|
UTSW |
12 |
77,521,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R4918:Fut8
|
UTSW |
12 |
77,521,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R5143:Fut8
|
UTSW |
12 |
77,411,983 (GRCm39) |
missense |
probably benign |
0.07 |
R5234:Fut8
|
UTSW |
12 |
77,379,004 (GRCm39) |
missense |
probably benign |
0.12 |
R5973:Fut8
|
UTSW |
12 |
77,411,771 (GRCm39) |
missense |
probably benign |
|
R6103:Fut8
|
UTSW |
12 |
77,378,721 (GRCm39) |
start gained |
probably benign |
|
R7167:Fut8
|
UTSW |
12 |
77,495,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7498:Fut8
|
UTSW |
12 |
77,459,708 (GRCm39) |
missense |
probably benign |
0.00 |
R7536:Fut8
|
UTSW |
12 |
77,521,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R9632:Fut8
|
UTSW |
12 |
77,440,507 (GRCm39) |
missense |
probably benign |
0.33 |
R9784:Fut8
|
UTSW |
12 |
77,459,613 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Fut8
|
UTSW |
12 |
77,495,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2011-12-09 |