Incidental Mutation 'R6103:Fut8'
| ID |
485392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fut8
|
| Ensembl Gene |
ENSMUSG00000021065 |
| Gene Name |
fucosyltransferase 8 |
| Synonyms |
alpha (1,6) fucosyltransferase |
| MMRRC Submission |
044253-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6103 (G1)
|
| Quality Score |
100.008 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
77284899-77523112 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to T
at 77378721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062804]
[ENSMUST00000171770]
[ENSMUST00000177595]
|
| AlphaFold |
Q9WTS2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062804
|
| SMART Domains |
Protein: ENSMUSP00000054530
Gene: ENSMUSG00000021065
| 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
|
| SMART Domains |
Protein: ENSMUSP00000130845
Gene: ENSMUSG00000021065
| 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
|
| SMART Domains |
Protein: ENSMUSP00000136327
Gene: ENSMUSG00000021065
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,768,445 (GRCm39) |
S926P |
possibly damaging |
Het |
| Acacb |
T |
A |
5: 114,383,942 (GRCm39) |
M2157K |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,797,452 (GRCm39) |
V636A |
probably benign |
Het |
| Adgrf3 |
T |
C |
5: 30,401,265 (GRCm39) |
Y51C |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,272,055 (GRCm39) |
T1568A |
possibly damaging |
Het |
| Ank1 |
T |
A |
8: 23,603,999 (GRCm39) |
S937T |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,508,578 (GRCm39) |
E340G |
probably damaging |
Het |
| Avpr1b |
C |
T |
1: 131,537,155 (GRCm39) |
P90S |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,118,446 (GRCm39) |
H159R |
probably damaging |
Het |
| Carmil3 |
A |
T |
14: 55,742,884 (GRCm39) |
T1185S |
probably benign |
Het |
| Casp2 |
A |
T |
6: 42,256,814 (GRCm39) |
R357S |
probably damaging |
Het |
| Ccdc34 |
A |
G |
2: 109,848,352 (GRCm39) |
D47G |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,605,596 (GRCm39) |
|
probably null |
Het |
| Cd209d |
T |
C |
8: 3,928,304 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,800,322 (GRCm39) |
D1176V |
probably benign |
Het |
| Cpd |
A |
T |
11: 76,690,625 (GRCm39) |
S844T |
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 114,968,864 (GRCm39) |
L380P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,626,781 (GRCm39) |
V376A |
probably benign |
Het |
| Enam |
T |
A |
5: 88,650,187 (GRCm39) |
N565K |
probably damaging |
Het |
| Fam110c |
G |
A |
12: 31,124,794 (GRCm39) |
W252* |
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Fgb |
T |
C |
3: 82,951,170 (GRCm39) |
D281G |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,457,209 (GRCm39) |
T2048S |
probably benign |
Het |
| Glmp |
T |
C |
3: 88,235,338 (GRCm39) |
S238P |
probably benign |
Het |
| Gm35315 |
T |
A |
5: 110,226,137 (GRCm39) |
Y434F |
probably damaging |
Het |
| Gnpnat1 |
A |
G |
14: 45,620,856 (GRCm39) |
F71S |
probably damaging |
Het |
| Gpnmb |
A |
G |
6: 49,019,820 (GRCm39) |
R64G |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,323,547 (GRCm39) |
F275S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,312,100 (GRCm39) |
C1314S |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,318,917 (GRCm39) |
I127T |
possibly damaging |
Het |
| Mmd2 |
A |
G |
5: 142,553,618 (GRCm39) |
|
probably null |
Het |
| Ms4a3 |
A |
T |
19: 11,616,582 (GRCm39) |
V20D |
possibly damaging |
Het |
| Mtres1 |
A |
T |
10: 43,408,916 (GRCm39) |
Y76N |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,460,663 (GRCm39) |
E272G |
probably damaging |
Het |
| Naaladl1 |
G |
A |
19: 6,158,743 (GRCm39) |
G292S |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,043,059 (GRCm39) |
Y1475N |
possibly damaging |
Het |
| Obp2a |
G |
A |
2: 25,590,163 (GRCm39) |
E21K |
probably damaging |
Het |
| Or5ar1 |
A |
G |
2: 85,671,776 (GRCm39) |
Y120H |
probably damaging |
Het |
| Osbpl10 |
T |
A |
9: 114,890,940 (GRCm39) |
Y109* |
probably null |
Het |
| Plcd1 |
A |
T |
9: 118,901,109 (GRCm39) |
W749R |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,377,704 (GRCm39) |
E718G |
possibly damaging |
Het |
| Rbm4 |
C |
T |
19: 4,837,947 (GRCm39) |
R295H |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Setdb2 |
T |
C |
14: 59,646,981 (GRCm39) |
|
probably null |
Het |
| Slc25a18 |
C |
A |
6: 120,766,399 (GRCm39) |
L131I |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,064,809 (GRCm39) |
H221R |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,026,979 (GRCm39) |
W757R |
probably damaging |
Het |
| Tmem183a |
C |
A |
1: 134,275,884 (GRCm39) |
V331L |
probably benign |
Het |
| Try10 |
C |
A |
6: 41,333,484 (GRCm39) |
H76Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,748,599 (GRCm39) |
H4150L |
probably benign |
Het |
| Vmn2r52 |
G |
A |
7: 9,905,327 (GRCm39) |
P171S |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,652,826 (GRCm39) |
T450A |
probably benign |
Het |
| Yipf7 |
A |
T |
5: 69,698,405 (GRCm39) |
V34D |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,748 (GRCm39) |
V71A |
probably benign |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-08-16 |
Incidental Mutation