Incidental Mutation 'IGL01660:Fut8'
ID |
103144 |
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 # |
IGL01660
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
77284899-77523112 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to G
at 77497032 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 414
(L414*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062804]
[ENSMUST00000171770]
[ENSMUST00000177595]
|
AlphaFold |
Q9WTS2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000062804
AA Change: L414*
|
SMART Domains |
Protein: ENSMUSP00000054530 Gene: ENSMUSG00000021065 AA Change: L414*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
SH3
|
505 |
562 |
1.13e-6 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171770
AA Change: L414*
|
SMART Domains |
Protein: ENSMUSP00000130845 Gene: ENSMUSG00000021065 AA Change: L414*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
SH3
|
505 |
562 |
1.13e-6 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000177595
AA Change: L414*
|
SMART Domains |
Protein: ENSMUSP00000136327 Gene: ENSMUSG00000021065 AA Change: L414*
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 |
Acta2 |
A |
G |
19: 34,229,191 (GRCm39) |
I66T |
probably damaging |
Het |
Actl11 |
T |
C |
9: 107,806,247 (GRCm39) |
V190A |
probably benign |
Het |
Ankub1 |
T |
A |
3: 57,597,817 (GRCm39) |
Y51F |
possibly damaging |
Het |
Armh3 |
A |
T |
19: 45,928,915 (GRCm39) |
L393H |
probably damaging |
Het |
Ccdc63 |
G |
A |
5: 122,249,027 (GRCm39) |
S434L |
possibly damaging |
Het |
Cdan1 |
T |
A |
2: 120,556,134 (GRCm39) |
I711F |
possibly damaging |
Het |
Cep170b |
C |
A |
12: 112,710,594 (GRCm39) |
N1474K |
probably damaging |
Het |
Cyp2c40 |
A |
G |
19: 39,775,254 (GRCm39) |
S333P |
probably damaging |
Het |
Dars1 |
A |
G |
1: 128,343,081 (GRCm39) |
|
probably benign |
Het |
Dock3 |
T |
A |
9: 106,909,563 (GRCm39) |
|
probably benign |
Het |
Dsp |
A |
G |
13: 38,360,471 (GRCm39) |
I359V |
possibly damaging |
Het |
Gja1 |
A |
G |
10: 56,264,544 (GRCm39) |
Y301C |
probably damaging |
Het |
Glipr1l1 |
T |
C |
10: 111,908,184 (GRCm39) |
S161P |
probably damaging |
Het |
Gpat4 |
A |
T |
8: 23,665,354 (GRCm39) |
|
probably null |
Het |
Grhl1 |
T |
A |
12: 24,658,577 (GRCm39) |
|
probably null |
Het |
Hectd3 |
T |
C |
4: 116,853,569 (GRCm39) |
V181A |
possibly damaging |
Het |
Htr2a |
T |
A |
14: 74,943,194 (GRCm39) |
I258N |
probably damaging |
Het |
Hyou1 |
T |
A |
9: 44,292,414 (GRCm39) |
D83E |
possibly damaging |
Het |
Myh10 |
T |
A |
11: 68,676,715 (GRCm39) |
L862Q |
probably benign |
Het |
Nkx2-2 |
T |
C |
2: 147,027,833 (GRCm39) |
S36G |
probably benign |
Het |
Nsun2 |
T |
A |
13: 69,771,368 (GRCm39) |
V326E |
probably benign |
Het |
Nuak2 |
T |
C |
1: 132,259,308 (GRCm39) |
V362A |
probably benign |
Het |
Nyap2 |
G |
A |
1: 81,169,642 (GRCm39) |
C133Y |
probably damaging |
Het |
Oas2 |
T |
C |
5: 120,879,288 (GRCm39) |
T351A |
probably benign |
Het |
Or11m3 |
C |
T |
15: 98,396,076 (GRCm39) |
T241I |
probably damaging |
Het |
Or5m13 |
T |
C |
2: 85,748,908 (GRCm39) |
I213T |
probably benign |
Het |
Pde4d |
A |
T |
13: 110,074,606 (GRCm39) |
I404F |
probably damaging |
Het |
Pga5 |
A |
G |
19: 10,652,456 (GRCm39) |
S95P |
probably damaging |
Het |
Pitpnm2 |
A |
T |
5: 124,261,257 (GRCm39) |
D947E |
probably damaging |
Het |
Pla2g10 |
C |
T |
16: 13,545,950 (GRCm39) |
R28H |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,317,676 (GRCm39) |
D84G |
probably damaging |
Het |
Rbm15b |
C |
T |
9: 106,762,908 (GRCm39) |
G420D |
probably damaging |
Het |
Tbcd |
A |
G |
11: 121,496,153 (GRCm39) |
T1063A |
probably benign |
Het |
Tmc2 |
C |
T |
2: 130,102,144 (GRCm39) |
Q770* |
probably null |
Het |
Tpo |
T |
C |
12: 30,169,399 (GRCm39) |
|
probably benign |
Het |
Vim |
A |
G |
2: 13,579,624 (GRCm39) |
N128D |
probably damaging |
Het |
Vmn1r21 |
A |
T |
6: 57,821,222 (GRCm39) |
I74N |
probably damaging |
Het |
Vmn2r52 |
A |
C |
7: 9,893,107 (GRCm39) |
I677M |
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 |
|
IGL00841:Fut8
|
APN |
12 |
77,412,095 (GRCm39) |
missense |
probably benign |
|
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 |
2014-01-21 |