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 |
77238125-77476338 bp(+) (GRCm38) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to T
at 77331947 bp (GRCm38)
|
| 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 |
|---|
| 1700021F05Rik |
A |
T |
10: 43,532,920 (GRCm38) |
Y76N |
probably benign |
Het |
| Abcc8 |
A |
G |
7: 46,119,021 (GRCm38) |
S926P |
possibly damaging |
Het |
| Acacb |
T |
A |
5: 114,245,881 (GRCm38) |
M2157K |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,913,251 (GRCm38) |
V636A |
probably benign |
Het |
| Adgrf3 |
T |
C |
5: 30,196,267 (GRCm38) |
Y51C |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,222,055 (GRCm38) |
T1568A |
possibly damaging |
Het |
| Ank1 |
T |
A |
8: 23,113,983 (GRCm38) |
S937T |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,454,429 (GRCm38) |
E340G |
probably damaging |
Het |
| Avpr1b |
C |
T |
1: 131,609,417 (GRCm38) |
P90S |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,396,489 (GRCm38) |
H159R |
probably damaging |
Het |
| Carmil3 |
A |
T |
14: 55,505,427 (GRCm38) |
T1185S |
probably benign |
Het |
| Casp2 |
A |
T |
6: 42,279,880 (GRCm38) |
R357S |
probably damaging |
Het |
| Ccdc34 |
A |
G |
2: 110,018,007 (GRCm38) |
D47G |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,698,314 (GRCm38) |
|
probably null |
Het |
| Cd209d |
T |
C |
8: 3,878,304 (GRCm38) |
Y27C |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,924,576 (GRCm38) |
D1176V |
probably benign |
Het |
| Cpd |
A |
T |
11: 76,799,799 (GRCm38) |
S844T |
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 115,111,667 (GRCm38) |
L380P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,825,581 (GRCm38) |
V376A |
probably benign |
Het |
| Enam |
T |
A |
5: 88,502,328 (GRCm38) |
N565K |
probably damaging |
Het |
| Fam110c |
G |
A |
12: 31,074,795 (GRCm38) |
W252* |
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,149,522 (GRCm38) |
I39N |
probably damaging |
Het |
| Fgb |
T |
C |
3: 83,043,863 (GRCm38) |
D281G |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,549,788 (GRCm38) |
T2048S |
probably benign |
Het |
| Glmp |
T |
C |
3: 88,328,031 (GRCm38) |
S238P |
probably benign |
Het |
| Gm35315 |
T |
A |
5: 110,078,271 (GRCm38) |
Y434F |
probably damaging |
Het |
| Gnpnat1 |
A |
G |
14: 45,383,399 (GRCm38) |
F71S |
probably damaging |
Het |
| Gpnmb |
A |
G |
6: 49,042,886 (GRCm38) |
R64G |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,166,204 (GRCm38) |
F275S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,093,126 (GRCm38) |
C1314S |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,489,849 (GRCm38) |
I127T |
possibly damaging |
Het |
| Mmd2 |
A |
G |
5: 142,567,863 (GRCm38) |
|
probably null |
Het |
| Ms4a3 |
A |
T |
19: 11,639,218 (GRCm38) |
V20D |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,618,743 (GRCm38) |
E272G |
probably damaging |
Het |
| Naaladl1 |
G |
A |
19: 6,108,713 (GRCm38) |
G292S |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,135,743 (GRCm38) |
Y1475N |
possibly damaging |
Het |
| Obp2a |
G |
A |
2: 25,700,151 (GRCm38) |
E21K |
probably damaging |
Het |
| Olfr1019 |
A |
G |
2: 85,841,432 (GRCm38) |
Y120H |
probably damaging |
Het |
| Osbpl10 |
T |
A |
9: 115,061,872 (GRCm38) |
Y109* |
probably null |
Het |
| Plcd1 |
A |
T |
9: 119,072,041 (GRCm38) |
W749R |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,400,706 (GRCm38) |
E718G |
possibly damaging |
Het |
| Rbm4 |
C |
T |
19: 4,787,919 (GRCm38) |
R295H |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,994,649 (GRCm38) |
P44L |
unknown |
Het |
| Setdb2 |
T |
C |
14: 59,409,532 (GRCm38) |
|
probably null |
Het |
| Slc25a18 |
C |
A |
6: 120,789,438 (GRCm38) |
L131I |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,234,465 (GRCm38) |
H221R |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,150,883 (GRCm38) |
W757R |
probably damaging |
Het |
| Tmem183a |
C |
A |
1: 134,348,146 (GRCm38) |
V331L |
probably benign |
Het |
| Try10 |
C |
A |
6: 41,356,550 (GRCm38) |
H76Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,918,255 (GRCm38) |
H4150L |
probably benign |
Het |
| Vmn2r52 |
G |
A |
7: 10,171,400 (GRCm38) |
P171S |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,415,369 (GRCm38) |
T450A |
probably benign |
Het |
| Yipf7 |
A |
T |
5: 69,541,062 (GRCm38) |
V34D |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,912,085 (GRCm38) |
P125L |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 127,050,576 (GRCm38) |
V71A |
probably benign |
Het |
|
| Other mutations in Fut8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Fut8
|
APN |
12 |
77,448,488 (GRCm38) |
missense |
probably benign |
|
|
IGL00841:Fut8
|
APN |
12 |
77,365,321 (GRCm38) |
missense |
probably benign |
|
|
IGL01660:Fut8
|
APN |
12 |
77,450,258 (GRCm38) |
nonsense |
probably null |
|
|
IGL02330:Fut8
|
APN |
12 |
77,450,243 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02815:Fut8
|
APN |
12 |
77,365,083 (GRCm38) |
missense |
probably benign |
|
|
IGL02836:Fut8
|
APN |
12 |
77,450,213 (GRCm38) |
missense |
probably benign |
0.24 |
|
IGL02981:Fut8
|
APN |
12 |
77,475,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03328:Fut8
|
APN |
12 |
77,365,229 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Seaweed
|
UTSW |
12 |
77,475,315 (GRCm38) |
makesense |
probably null |
|
|
R0001:Fut8
|
UTSW |
12 |
77,475,315 (GRCm38) |
makesense |
probably null |
|
|
R0037:Fut8
|
UTSW |
12 |
77,365,037 (GRCm38) |
missense |
probably benign |
|
|
R0115:Fut8
|
UTSW |
12 |
77,448,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0334:Fut8
|
UTSW |
12 |
77,393,762 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0481:Fut8
|
UTSW |
12 |
77,448,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0554:Fut8
|
UTSW |
12 |
77,364,970 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0671:Fut8
|
UTSW |
12 |
77,475,017 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1491:Fut8
|
UTSW |
12 |
77,448,674 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1918:Fut8
|
UTSW |
12 |
77,332,218 (GRCm38) |
missense |
probably benign |
0.25 |
|
R2336:Fut8
|
UTSW |
12 |
77,412,956 (GRCm38) |
splice site |
probably benign |
|
|
R2975:Fut8
|
UTSW |
12 |
77,365,013 (GRCm38) |
missense |
probably benign |
0.20 |
|
R3933:Fut8
|
UTSW |
12 |
77,475,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4066:Fut8
|
UTSW |
12 |
77,464,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4067:Fut8
|
UTSW |
12 |
77,464,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4159:Fut8
|
UTSW |
12 |
77,393,749 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4728:Fut8
|
UTSW |
12 |
77,475,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4768:Fut8
|
UTSW |
12 |
77,365,280 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4831:Fut8
|
UTSW |
12 |
77,393,829 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4914:Fut8
|
UTSW |
12 |
77,475,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4915:Fut8
|
UTSW |
12 |
77,475,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4917:Fut8
|
UTSW |
12 |
77,475,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4918:Fut8
|
UTSW |
12 |
77,475,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5143:Fut8
|
UTSW |
12 |
77,365,209 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5234:Fut8
|
UTSW |
12 |
77,332,230 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5973:Fut8
|
UTSW |
12 |
77,364,997 (GRCm38) |
missense |
probably benign |
|
|
R7167:Fut8
|
UTSW |
12 |
77,448,632 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7498:Fut8
|
UTSW |
12 |
77,412,934 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7536:Fut8
|
UTSW |
12 |
77,475,078 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9632:Fut8
|
UTSW |
12 |
77,393,733 (GRCm38) |
missense |
probably benign |
0.33 |
|
R9784:Fut8
|
UTSW |
12 |
77,412,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0065:Fut8
|
UTSW |
12 |
77,448,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2017-08-16 |
Incidental Mutation