Incidental Mutation 'IGL01134:Fut9'
| ID |
50962 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fut9
|
| Ensembl Gene |
ENSMUSG00000055373 |
| Gene Name |
fucosyltransferase 9 |
| Synonyms |
mFUT9, mFuc-TIX |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01134
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
25609333-25800003 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25620446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 123
(Q123K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084770]
[ENSMUST00000108199]
|
| AlphaFold |
O88819 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084770
AA Change: Q123K
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000081826
Gene: ENSMUSG00000055373
AA Change: Q123K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_10
|
6 |
358 |
2.9e-140 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108199
AA Change: Q123K
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103834
Gene: ENSMUSG00000055373
AA Change: Q123K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_tran_10_N
|
61 |
169 |
1.4e-43 |
PFAM |
|
Pfam:Glyco_transf_10
|
185 |
357 |
4.8e-69 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased number of neuronal stem cells with increased self-renewal capacity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,142,105 (GRCm39) |
H637Q |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Akap6 |
C |
A |
12: 52,984,000 (GRCm39) |
A848E |
probably damaging |
Het |
| Cxxc4 |
A |
G |
3: 133,946,420 (GRCm39) |
I334V |
probably null |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,125 (GRCm39) |
I179N |
probably damaging |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,102 (GRCm39) |
A183S |
unknown |
Het |
| Cyp2g1 |
A |
G |
7: 26,509,256 (GRCm39) |
N110S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,019,548 (GRCm39) |
R674S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,419,810 (GRCm39) |
Y155* |
probably null |
Het |
| Gda |
A |
G |
19: 21,394,429 (GRCm39) |
S143P |
probably damaging |
Het |
| Gpr162 |
T |
C |
6: 124,835,820 (GRCm39) |
|
probably null |
Het |
| Hsf2bp |
A |
G |
17: 32,206,378 (GRCm39) |
L251S |
probably damaging |
Het |
| Hsh2d |
A |
T |
8: 72,947,375 (GRCm39) |
D24V |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,501 (GRCm39) |
T264S |
probably benign |
Het |
| Med12l |
G |
A |
3: 58,949,696 (GRCm39) |
E151K |
possibly damaging |
Het |
| Mgat3 |
C |
A |
15: 80,096,377 (GRCm39) |
N401K |
probably benign |
Het |
| Mmp27 |
T |
G |
9: 7,573,298 (GRCm39) |
M130R |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,944,634 (GRCm39) |
S412T |
probably benign |
Het |
| Mrps9 |
A |
G |
1: 42,942,557 (GRCm39) |
I338M |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,494,893 (GRCm39) |
T395M |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,112 (GRCm39) |
I116M |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,115,587 (GRCm39) |
D230G |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,889 (GRCm39) |
V795I |
probably benign |
Het |
| Pde8a |
G |
A |
7: 80,968,826 (GRCm39) |
R449Q |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,302,784 (GRCm39) |
R770G |
probably damaging |
Het |
| Smr2 |
T |
C |
5: 88,256,378 (GRCm39) |
S19P |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,849 (GRCm39) |
S2529P |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,141,103 (GRCm39) |
F367L |
probably damaging |
Het |
| Vps41 |
A |
G |
13: 19,050,320 (GRCm39) |
S838G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,789 (GRCm39) |
F124I |
probably damaging |
Het |
|
| Other mutations in Fut9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00919:Fut9
|
APN |
4 |
25,620,316 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01330:Fut9
|
APN |
4 |
25,619,791 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01732:Fut9
|
APN |
4 |
25,619,867 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02824:Fut9
|
APN |
4 |
25,620,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU74:Fut9
|
UTSW |
4 |
25,620,802 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0280:Fut9
|
UTSW |
4 |
25,619,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0408:Fut9
|
UTSW |
4 |
25,620,319 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0594:Fut9
|
UTSW |
4 |
25,620,526 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0609:Fut9
|
UTSW |
4 |
25,620,811 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R0709:Fut9
|
UTSW |
4 |
25,620,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1567:Fut9
|
UTSW |
4 |
25,620,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1719:Fut9
|
UTSW |
4 |
25,619,744 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1856:Fut9
|
UTSW |
4 |
25,620,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Fut9
|
UTSW |
4 |
25,620,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2165:Fut9
|
UTSW |
4 |
25,619,734 (GRCm39) |
makesense |
probably null |
|
|
R2165:Fut9
|
UTSW |
4 |
25,619,733 (GRCm39) |
makesense |
probably null |
|
|
R2332:Fut9
|
UTSW |
4 |
25,619,823 (GRCm39) |
nonsense |
probably null |
|
|
R4539:Fut9
|
UTSW |
4 |
25,619,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4722:Fut9
|
UTSW |
4 |
25,799,734 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4766:Fut9
|
UTSW |
4 |
25,799,191 (GRCm39) |
intron |
probably benign |
|
|
R4937:Fut9
|
UTSW |
4 |
25,799,591 (GRCm39) |
splice site |
probably benign |
|
|
R5025:Fut9
|
UTSW |
4 |
25,620,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Fut9
|
UTSW |
4 |
25,799,245 (GRCm39) |
intron |
probably benign |
|
|
R5158:Fut9
|
UTSW |
4 |
25,620,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5601:Fut9
|
UTSW |
4 |
25,620,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5974:Fut9
|
UTSW |
4 |
25,620,090 (GRCm39) |
nonsense |
probably null |
|
|
R6315:Fut9
|
UTSW |
4 |
25,619,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6385:Fut9
|
UTSW |
4 |
25,620,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6652:Fut9
|
UTSW |
4 |
25,620,619 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6809:Fut9
|
UTSW |
4 |
25,620,647 (GRCm39) |
missense |
probably benign |
|
|
R6825:Fut9
|
UTSW |
4 |
25,619,925 (GRCm39) |
missense |
probably benign |
|
|
R7145:Fut9
|
UTSW |
4 |
25,620,507 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7573:Fut9
|
UTSW |
4 |
25,620,691 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8933:Fut9
|
UTSW |
4 |
25,619,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9715:Fut9
|
UTSW |
4 |
25,620,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0057:Fut9
|
UTSW |
4 |
25,799,686 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation