Incidental Mutation 'IGL00841:Fut8'
ID |
10846 |
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 # |
IGL00841
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
77284899-77523112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 77412095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 148
(H148Q)
|
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: H148Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000054530 Gene: ENSMUSG00000021065 AA Change: H148Q
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: H148Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130845 Gene: ENSMUSG00000021065 AA Change: H148Q
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: H148Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000136327 Gene: ENSMUSG00000021065 AA Change: H148Q
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: ENSMUST00000217879
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankdd1b |
T |
C |
13: 96,554,338 (GRCm39) |
|
probably benign |
Het |
Arl2 |
C |
A |
19: 6,185,999 (GRCm39) |
|
probably benign |
Het |
Atp8b4 |
A |
G |
2: 126,225,689 (GRCm39) |
S514P |
probably damaging |
Het |
Ces1a |
G |
T |
8: 93,766,164 (GRCm39) |
S150* |
probably null |
Het |
Ces1g |
T |
A |
8: 94,029,615 (GRCm39) |
D539V |
possibly damaging |
Het |
Col24a1 |
A |
G |
3: 145,068,064 (GRCm39) |
D752G |
probably damaging |
Het |
Ctsd |
A |
C |
7: 141,936,418 (GRCm39) |
S128A |
probably damaging |
Het |
Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
Dscam |
G |
A |
16: 96,621,077 (GRCm39) |
L544F |
probably damaging |
Het |
Fry |
T |
A |
5: 150,346,189 (GRCm39) |
I1566N |
probably benign |
Het |
Ighv1-64 |
A |
T |
12: 115,471,596 (GRCm39) |
M1K |
probably null |
Het |
Ivd |
T |
C |
2: 118,707,383 (GRCm39) |
V299A |
probably benign |
Het |
Kcnab3 |
A |
G |
11: 69,222,129 (GRCm39) |
I292V |
probably benign |
Het |
Mfhas1 |
T |
A |
8: 36,058,040 (GRCm39) |
N838K |
probably damaging |
Het |
Prom1 |
A |
T |
5: 44,220,458 (GRCm39) |
|
probably benign |
Het |
Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
Scel |
A |
T |
14: 103,767,431 (GRCm39) |
Q30L |
probably benign |
Het |
Skp2 |
A |
C |
15: 9,139,574 (GRCm39) |
S40R |
probably benign |
Het |
Tm9sf1 |
T |
A |
14: 55,880,184 (GRCm39) |
K71M |
probably damaging |
Het |
Vegfb |
A |
G |
19: 6,963,846 (GRCm39) |
W38R |
probably damaging |
Het |
Xpo1 |
T |
G |
11: 23,235,094 (GRCm39) |
F588V |
probably damaging |
Het |
Zfp990 |
C |
A |
4: 145,264,438 (GRCm39) |
L479M |
probably damaging |
Het |
|
Other mutations in Fut8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Fut8
|
APN |
12 |
77,495,262 (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 |
2012-12-06 |