Incidental Mutation 'R5025:Fut9'
| ID |
391287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fut9
|
| Ensembl Gene |
ENSMUSG00000055373 |
| Gene Name |
fucosyltransferase 9 |
| Synonyms |
mFUT9, mFuc-TIX |
| MMRRC Submission |
042616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5025 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
25609333-25800003 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25620502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 104
(H104L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084770]
[ENSMUST00000108199]
|
| AlphaFold |
O88819 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084770
AA Change: H104L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081826
Gene: ENSMUSG00000055373
AA Change: H104L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_10
|
6 |
358 |
2.9e-140 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108199
AA Change: H104L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103834
Gene: ENSMUSG00000055373
AA Change: H104L
| 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 |
|
| Meta Mutation Damage Score |
0.4073 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,153,719 (GRCm39) |
F10I |
unknown |
Het |
| Adad1 |
G |
T |
3: 37,119,359 (GRCm39) |
A147S |
probably damaging |
Het |
| Atg14 |
T |
G |
14: 47,783,273 (GRCm39) |
N354T |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,955,806 (GRCm39) |
E902D |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,855,172 (GRCm39) |
S419P |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,654,244 (GRCm39) |
K638R |
probably damaging |
Het |
| Dennd4c |
T |
A |
4: 86,713,536 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,671,128 (GRCm39) |
N585S |
probably benign |
Het |
| Eef1akmt2 |
C |
A |
7: 132,453,218 (GRCm39) |
W38L |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,702,734 (GRCm39) |
D1709E |
probably benign |
Het |
| Fbrsl1 |
T |
C |
5: 110,565,767 (GRCm39) |
D179G |
probably damaging |
Het |
| Fbxl18 |
A |
T |
5: 142,872,068 (GRCm39) |
I389N |
probably damaging |
Het |
| Fuca1 |
G |
T |
4: 135,660,237 (GRCm39) |
G252C |
probably damaging |
Het |
| Glra1 |
C |
T |
11: 55,427,331 (GRCm39) |
|
probably null |
Het |
| Gpsm1 |
T |
C |
2: 26,210,008 (GRCm39) |
V45A |
possibly damaging |
Het |
| Hadha |
A |
G |
5: 30,359,959 (GRCm39) |
|
probably benign |
Het |
| Hddc2 |
C |
T |
10: 31,203,949 (GRCm39) |
T192I |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Igkv14-100 |
A |
G |
6: 68,496,383 (GRCm39) |
D92G |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,449,327 (GRCm39) |
V88A |
possibly damaging |
Het |
| Inpp5j |
T |
C |
11: 3,450,664 (GRCm39) |
D563G |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,798,681 (GRCm39) |
N462K |
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,854,368 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
| Or2n1c |
T |
C |
17: 38,519,334 (GRCm39) |
L66P |
probably damaging |
Het |
| Or5b122 |
G |
T |
19: 13,562,886 (GRCm39) |
A30S |
probably benign |
Het |
| Psg20 |
T |
C |
7: 18,408,291 (GRCm39) |
*473W |
probably null |
Het |
| Rimbp3 |
A |
G |
16: 17,027,671 (GRCm39) |
E365G |
probably damaging |
Het |
| Snai2 |
A |
G |
16: 14,526,053 (GRCm39) |
T235A |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,579,779 (GRCm39) |
Y1528F |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,856,075 (GRCm39) |
V35A |
probably benign |
Het |
| Tnfsf15 |
T |
C |
4: 63,648,125 (GRCm39) |
I172V |
probably benign |
Het |
| Tns1 |
G |
A |
1: 73,964,641 (GRCm39) |
T1330I |
probably damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,852,353 (GRCm39) |
F330I |
possibly damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,342,809 (GRCm39) |
E396G |
possibly 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 |
|
IGL01134:Fut9
|
APN |
4 |
25,620,446 (GRCm39) |
missense |
probably benign |
0.13 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGTCAAGAAGCCATAAGG -3'
(R):5'- CCAATGGAGTCTGCAAGTTCTG -3'
Sequencing Primer
(F):5'- CACTTGGATATCTGAATCACGGCG -3'
(R):5'- CTGCAAGTTCTGTGCTGAAAATG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation