Incidental Mutation 'IGL00781:Gxylt1'
| ID |
13525 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gxylt1
|
| Ensembl Gene |
ENSMUSG00000036197 |
| Gene Name |
glucoside xylosyltransferase 1 |
| Synonyms |
LOC382997, LOC223827, Glt8d3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00781
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
93137623-93173060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93152273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 222
(R222H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049484]
[ENSMUST00000057896]
[ENSMUST00000230063]
|
| AlphaFold |
Q3UHH8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049484
AA Change: R222H
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047281
Gene: ENSMUSG00000036197
AA Change: R222H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
69 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
81 |
330 |
9.9e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057896
AA Change: R253H
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081947
Gene: ENSMUSG00000036197
AA Change: R253H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
69 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
103 |
359 |
4.1e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230063
AA Change: R222H
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,801,887 (GRCm39) |
S489P |
probably benign |
Het |
| Adam8 |
A |
T |
7: 139,567,158 (GRCm39) |
N431K |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,770,702 (GRCm39) |
H271R |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,726,349 (GRCm39) |
L559F |
probably benign |
Het |
| Cdk17 |
A |
G |
10: 93,068,278 (GRCm39) |
Y312C |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,596,488 (GRCm39) |
I1092T |
possibly damaging |
Het |
| Col20a1 |
G |
T |
2: 180,645,272 (GRCm39) |
V885F |
possibly damaging |
Het |
| Dcc |
A |
G |
18: 71,942,266 (GRCm39) |
S284P |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,943,233 (GRCm39) |
V284A |
possibly damaging |
Het |
| Fam184b |
A |
T |
5: 45,712,534 (GRCm39) |
|
probably null |
Het |
| Fbln7 |
G |
A |
2: 128,735,771 (GRCm39) |
R253Q |
possibly damaging |
Het |
| Gfm2 |
T |
C |
13: 97,285,847 (GRCm39) |
F112S |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,977,273 (GRCm39) |
I1385V |
probably benign |
Het |
| Pkn3 |
C |
A |
2: 29,973,402 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
T |
A |
2: 126,761,640 (GRCm39) |
N288I |
probably benign |
Het |
| St14 |
A |
G |
9: 31,015,075 (GRCm39) |
S308P |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,070,836 (GRCm39) |
P4430T |
probably benign |
Het |
| Taf6l |
C |
T |
19: 8,751,025 (GRCm39) |
G43D |
probably damaging |
Het |
| Trim11 |
T |
C |
11: 58,881,523 (GRCm39) |
L472P |
probably benign |
Het |
| Usp2 |
C |
T |
9: 44,000,462 (GRCm39) |
R284* |
probably null |
Het |
|
| Other mutations in Gxylt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03403:Gxylt1
|
APN |
15 |
93,159,656 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
PIT4260001:Gxylt1
|
UTSW |
15 |
93,159,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Gxylt1
|
UTSW |
15 |
93,152,436 (GRCm39) |
splice site |
probably benign |
|
|
R0040:Gxylt1
|
UTSW |
15 |
93,152,436 (GRCm39) |
splice site |
probably benign |
|
|
R1033:Gxylt1
|
UTSW |
15 |
93,142,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1413:Gxylt1
|
UTSW |
15 |
93,152,273 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2132:Gxylt1
|
UTSW |
15 |
93,142,851 (GRCm39) |
makesense |
probably null |
|
|
R2144:Gxylt1
|
UTSW |
15 |
93,152,361 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3157:Gxylt1
|
UTSW |
15 |
93,142,913 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3159:Gxylt1
|
UTSW |
15 |
93,142,913 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5436:Gxylt1
|
UTSW |
15 |
93,145,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Gxylt1
|
UTSW |
15 |
93,152,180 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5570:Gxylt1
|
UTSW |
15 |
93,152,180 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5599:Gxylt1
|
UTSW |
15 |
93,152,198 (GRCm39) |
small deletion |
probably benign |
|
|
R5656:Gxylt1
|
UTSW |
15 |
93,143,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Gxylt1
|
UTSW |
15 |
93,143,539 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9369:Gxylt1
|
UTSW |
15 |
93,172,896 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Posted On |
2012-12-06 |
Incidental Mutation