Incidental Mutation 'IGL01533:Gxylt2'
ID |
89832 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gxylt2
|
Ensembl Gene |
ENSMUSG00000030074 |
Gene Name |
glucoside xylosyltransferase 2 |
Synonyms |
Glt8d4, LOC232313 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01533
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
100681638-100787738 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100760098 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 211
(L211P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032157]
|
AlphaFold |
Q810K9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032157
AA Change: L211P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032157 Gene: ENSMUSG00000030074 AA Change: L211P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
low complexity region
|
55 |
89 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_8
|
112 |
364 |
1.5e-15 |
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 is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
A |
18: 67,538,488 (GRCm39) |
E757* |
probably null |
Het |
Arhgap15 |
T |
C |
2: 44,133,165 (GRCm39) |
V357A |
probably damaging |
Het |
Asb13 |
T |
C |
13: 3,692,164 (GRCm39) |
V48A |
probably benign |
Het |
Bbs7 |
T |
C |
3: 36,664,384 (GRCm39) |
R74G |
possibly damaging |
Het |
Capn11 |
T |
C |
17: 45,943,830 (GRCm39) |
H568R |
probably benign |
Het |
Cbx5 |
T |
C |
15: 103,114,061 (GRCm39) |
E61G |
probably damaging |
Het |
Ccdc158 |
T |
C |
5: 92,757,815 (GRCm39) |
|
probably null |
Het |
Col14a1 |
C |
A |
15: 55,284,236 (GRCm39) |
N832K |
unknown |
Het |
Cyp2a4 |
A |
T |
7: 26,007,969 (GRCm39) |
K125N |
probably damaging |
Het |
Dhx16 |
T |
C |
17: 36,192,939 (GRCm39) |
L215P |
probably damaging |
Het |
Dtx4 |
T |
C |
19: 12,455,579 (GRCm39) |
M480V |
possibly damaging |
Het |
Edaradd |
A |
G |
13: 12,493,463 (GRCm39) |
|
probably benign |
Het |
Galnt13 |
T |
A |
2: 54,770,144 (GRCm39) |
M312K |
probably damaging |
Het |
Gcdh |
T |
A |
8: 85,615,991 (GRCm39) |
R337W |
probably damaging |
Het |
Gm28557 |
A |
T |
13: 67,219,396 (GRCm39) |
C109* |
probably null |
Het |
Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
Gria4 |
T |
G |
9: 4,502,395 (GRCm39) |
L379F |
probably damaging |
Het |
Igsf10 |
T |
A |
3: 59,226,651 (GRCm39) |
I2341F |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,367,666 (GRCm39) |
D2365G |
probably damaging |
Het |
Morc2b |
A |
G |
17: 33,354,695 (GRCm39) |
|
probably benign |
Het |
Ncoa3 |
T |
C |
2: 165,896,945 (GRCm39) |
S579P |
probably benign |
Het |
Nlgn1 |
T |
C |
3: 25,490,527 (GRCm39) |
N400S |
possibly damaging |
Het |
Or5w17 |
C |
A |
2: 87,583,412 (GRCm39) |
R308S |
probably benign |
Het |
Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,126,065 (GRCm39) |
S1102P |
probably benign |
Het |
Polr1e |
A |
G |
4: 45,019,328 (GRCm39) |
Y59C |
probably damaging |
Het |
Prex2 |
C |
T |
1: 11,256,965 (GRCm39) |
Q1226* |
probably null |
Het |
Rab12 |
A |
T |
17: 66,804,430 (GRCm39) |
I176K |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,736,676 (GRCm39) |
N2250K |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,172,919 (GRCm39) |
T1865A |
probably damaging |
Het |
Sema6b |
G |
A |
17: 56,436,499 (GRCm39) |
|
probably benign |
Het |
Smarcb1 |
C |
T |
10: 75,752,602 (GRCm39) |
|
probably null |
Het |
Sos1 |
A |
G |
17: 80,722,511 (GRCm39) |
L845S |
probably damaging |
Het |
Stat4 |
T |
A |
1: 52,137,578 (GRCm39) |
N456K |
probably damaging |
Het |
Tex264 |
A |
G |
9: 106,550,798 (GRCm39) |
I133T |
probably benign |
Het |
Thoc1 |
T |
C |
18: 9,962,376 (GRCm39) |
V87A |
probably benign |
Het |
Tmem131 |
C |
T |
1: 36,857,803 (GRCm39) |
D778N |
probably damaging |
Het |
Tspan14 |
A |
G |
14: 40,638,776 (GRCm39) |
I88T |
probably benign |
Het |
Ttn |
C |
A |
2: 76,562,918 (GRCm39) |
V28679L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,782,285 (GRCm39) |
S984P |
probably damaging |
Het |
Vangl1 |
T |
C |
3: 102,070,667 (GRCm39) |
E423G |
possibly damaging |
Het |
|
Other mutations in Gxylt2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01290:Gxylt2
|
APN |
6 |
100,727,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Gxylt2
|
UTSW |
6 |
100,710,339 (GRCm39) |
splice site |
probably benign |
|
R0047:Gxylt2
|
UTSW |
6 |
100,710,339 (GRCm39) |
splice site |
probably benign |
|
R0328:Gxylt2
|
UTSW |
6 |
100,727,496 (GRCm39) |
splice site |
probably benign |
|
R1159:Gxylt2
|
UTSW |
6 |
100,781,602 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2173:Gxylt2
|
UTSW |
6 |
100,775,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R2307:Gxylt2
|
UTSW |
6 |
100,764,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R4112:Gxylt2
|
UTSW |
6 |
100,760,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R4378:Gxylt2
|
UTSW |
6 |
100,710,161 (GRCm39) |
missense |
probably benign |
0.00 |
R5032:Gxylt2
|
UTSW |
6 |
100,760,142 (GRCm39) |
missense |
probably benign |
0.22 |
R5206:Gxylt2
|
UTSW |
6 |
100,781,576 (GRCm39) |
missense |
probably damaging |
0.98 |
R5305:Gxylt2
|
UTSW |
6 |
100,764,179 (GRCm39) |
missense |
probably damaging |
0.98 |
R5394:Gxylt2
|
UTSW |
6 |
100,682,075 (GRCm39) |
missense |
probably benign |
0.01 |
R5497:Gxylt2
|
UTSW |
6 |
100,764,290 (GRCm39) |
missense |
probably benign |
0.10 |
R5814:Gxylt2
|
UTSW |
6 |
100,710,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R5864:Gxylt2
|
UTSW |
6 |
100,760,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R6038:Gxylt2
|
UTSW |
6 |
100,781,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R6038:Gxylt2
|
UTSW |
6 |
100,781,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R6314:Gxylt2
|
UTSW |
6 |
100,775,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R7051:Gxylt2
|
UTSW |
6 |
100,781,537 (GRCm39) |
nonsense |
probably null |
|
R7375:Gxylt2
|
UTSW |
6 |
100,727,383 (GRCm39) |
missense |
probably benign |
0.28 |
R7607:Gxylt2
|
UTSW |
6 |
100,775,151 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7617:Gxylt2
|
UTSW |
6 |
100,760,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7658:Gxylt2
|
UTSW |
6 |
100,760,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R7685:Gxylt2
|
UTSW |
6 |
100,781,489 (GRCm39) |
missense |
probably benign |
0.01 |
R7744:Gxylt2
|
UTSW |
6 |
100,760,278 (GRCm39) |
missense |
probably damaging |
0.99 |
R7980:Gxylt2
|
UTSW |
6 |
100,764,170 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8093:Gxylt2
|
UTSW |
6 |
100,710,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R8743:Gxylt2
|
UTSW |
6 |
100,764,284 (GRCm39) |
missense |
probably benign |
0.01 |
R8777:Gxylt2
|
UTSW |
6 |
100,727,432 (GRCm39) |
missense |
probably damaging |
0.99 |
R8777-TAIL:Gxylt2
|
UTSW |
6 |
100,727,432 (GRCm39) |
missense |
probably damaging |
0.99 |
R8871:Gxylt2
|
UTSW |
6 |
100,760,109 (GRCm39) |
missense |
probably damaging |
0.99 |
R9130:Gxylt2
|
UTSW |
6 |
100,710,329 (GRCm39) |
nonsense |
probably null |
|
R9524:Gxylt2
|
UTSW |
6 |
100,727,416 (GRCm39) |
missense |
probably benign |
0.22 |
R9691:Gxylt2
|
UTSW |
6 |
100,760,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R9694:Gxylt2
|
UTSW |
6 |
100,710,174 (GRCm39) |
missense |
probably benign |
0.25 |
R9776:Gxylt2
|
UTSW |
6 |
100,682,072 (GRCm39) |
nonsense |
probably null |
|
Z1176:Gxylt2
|
UTSW |
6 |
100,760,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-03 |