Incidental Mutation 'R4067:Fut8'
| ID |
368205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fut8
|
| Ensembl Gene |
ENSMUSG00000021065 |
| Gene Name |
fucosyltransferase 8 |
| Synonyms |
alpha (1,6) fucosyltransferase |
| MMRRC Submission |
040853-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4067 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
77284899-77523112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77510835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 421
(Y421N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062804]
[ENSMUST00000171770]
[ENSMUST00000177595]
|
| AlphaFold |
Q9WTS2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062804
AA Change: Y421N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000054530
Gene: ENSMUSG00000021065
AA Change: Y421N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
SH3
|
505 |
562 |
1.13e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171770
AA Change: Y421N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130845
Gene: ENSMUSG00000021065
AA Change: Y421N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
SH3
|
505 |
562 |
1.13e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177595
AA Change: Y421N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136327
Gene: ENSMUSG00000021065
AA Change: Y421N
| 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
|
| Meta Mutation Damage Score |
0.8660 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
T |
A |
1: 151,769,150 (GRCm39) |
T121S |
possibly damaging |
Het |
| 4930503E14Rik |
T |
C |
14: 44,406,641 (GRCm39) |
E136G |
probably damaging |
Het |
| Adgrg4 |
A |
G |
X: 56,005,320 (GRCm39) |
N2527S |
probably damaging |
Het |
| Ak1 |
G |
A |
2: 32,519,593 (GRCm39) |
S7N |
probably benign |
Het |
| Aktip |
A |
C |
8: 91,852,466 (GRCm39) |
I230R |
possibly damaging |
Het |
| Alms1 |
A |
G |
6: 85,598,271 (GRCm39) |
I1032M |
probably damaging |
Het |
| Asb4 |
T |
A |
6: 5,423,651 (GRCm39) |
V266E |
probably damaging |
Het |
| Bace1 |
G |
A |
9: 45,765,962 (GRCm39) |
V130M |
probably damaging |
Het |
| Bglap |
A |
T |
3: 88,291,744 (GRCm39) |
|
probably benign |
Het |
| Brpf3 |
T |
C |
17: 29,040,233 (GRCm39) |
S885P |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,750,202 (GRCm39) |
I1742F |
possibly damaging |
Het |
| Col9a2 |
T |
A |
4: 120,909,586 (GRCm39) |
I415N |
probably damaging |
Het |
| Cybc1 |
A |
T |
11: 121,115,528 (GRCm39) |
|
probably null |
Het |
| Dnajc7 |
T |
C |
11: 100,492,607 (GRCm39) |
Y38C |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,922,820 (GRCm39) |
L309P |
probably benign |
Het |
| Enam |
A |
G |
5: 88,651,236 (GRCm39) |
Y840C |
probably damaging |
Het |
| Etnppl |
T |
A |
3: 130,425,442 (GRCm39) |
C416S |
probably damaging |
Het |
| Fgf20 |
A |
T |
8: 40,732,896 (GRCm39) |
S181T |
probably benign |
Het |
| Gcn1 |
T |
G |
5: 115,737,147 (GRCm39) |
L1295R |
probably damaging |
Het |
| Gm11437 |
A |
G |
11: 84,055,337 (GRCm39) |
V93A |
probably benign |
Het |
| Gm9989 |
T |
C |
3: 81,829,549 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmc4 |
A |
T |
15: 63,765,736 (GRCm39) |
|
probably null |
Het |
| Gvin3 |
T |
A |
7: 106,198,772 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv10-1 |
A |
T |
12: 114,442,643 (GRCm39) |
M114K |
probably benign |
Het |
| Il22b |
T |
C |
10: 118,126,115 (GRCm39) |
I161V |
probably damaging |
Het |
| Itfg2 |
T |
A |
6: 128,387,413 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
G |
A |
3: 86,995,774 (GRCm39) |
Q387* |
probably null |
Het |
| Klk1 |
C |
T |
7: 43,876,968 (GRCm39) |
R24* |
probably null |
Het |
| Klra7 |
T |
C |
6: 130,208,612 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mrps2 |
A |
G |
2: 28,359,782 (GRCm39) |
N213S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,167,185 (GRCm39) |
Y102F |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,431 (GRCm39) |
C110* |
probably null |
Het |
| Otof |
C |
T |
5: 30,556,635 (GRCm39) |
G282D |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,430,367 (GRCm39) |
|
probably null |
Het |
| Pign |
A |
T |
1: 105,515,703 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
G |
A |
1: 133,222,416 (GRCm39) |
E1001K |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Ppm1d |
A |
G |
11: 85,236,678 (GRCm39) |
T486A |
probably benign |
Het |
| Pudp |
A |
G |
18: 50,701,329 (GRCm39) |
F135L |
probably benign |
Het |
| Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
| Rel |
A |
C |
11: 23,703,215 (GRCm39) |
|
probably null |
Het |
| Sf3a1 |
T |
A |
11: 4,117,824 (GRCm39) |
F195L |
probably damaging |
Het |
| Slc30a1 |
G |
C |
1: 191,639,401 (GRCm39) |
A95P |
probably damaging |
Het |
| Slc47a2 |
T |
C |
11: 61,194,773 (GRCm39) |
T469A |
probably benign |
Het |
| Slc4a10 |
A |
T |
2: 61,876,989 (GRCm39) |
M1L |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,703 (GRCm39) |
D445V |
probably damaging |
Het |
| Slc9a7 |
C |
T |
X: 20,071,793 (GRCm39) |
G113R |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,712 (GRCm39) |
D440V |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,511,545 (GRCm39) |
H237R |
possibly damaging |
Het |
| Stk26 |
A |
G |
X: 49,977,910 (GRCm39) |
E317G |
probably benign |
Het |
| Tex10 |
A |
T |
4: 48,459,355 (GRCm39) |
Y506* |
probably null |
Het |
| Trhde |
T |
A |
10: 114,280,585 (GRCm39) |
R848* |
probably null |
Het |
| Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
| Usp24 |
C |
T |
4: 106,216,286 (GRCm39) |
T379M |
possibly damaging |
Het |
| Zfp783 |
A |
T |
6: 47,922,499 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTTCTCACTGTTAAAGAGGAAG -3'
(R):5'- GTGAGTACTGGCCACTAAAACATAC -3'
Sequencing Primer
(F):5'- TCATGTGGGTCCTGAACAAC -3'
(R):5'- CATACTACCACTTACCTGGGATG -3'
|
| Posted On |
2015-12-30 |
Incidental Mutation