Incidental Mutation 'R1159:Gxylt2'
ID |
101957 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gxylt2
|
Ensembl Gene |
ENSMUSG00000030074 |
Gene Name |
glucoside xylosyltransferase 2 |
Synonyms |
Glt8d4, LOC232313 |
MMRRC Submission |
039232-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1159 (G1)
|
Quality Score |
155 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
100681638-100787738 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100781602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 426
(M426V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032157]
|
AlphaFold |
Q810K9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032157
AA Change: M426V
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000032157 Gene: ENSMUSG00000030074 AA Change: M426V
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 |
|
Meta Mutation Damage Score |
0.0909 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.8%
|
Validation Efficiency |
100% (42/42) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
G |
A |
6: 23,115,137 (GRCm39) |
H164Y |
probably damaging |
Het |
Acss2 |
T |
C |
2: 155,393,138 (GRCm39) |
I288T |
probably benign |
Het |
Akap9 |
C |
T |
5: 4,010,865 (GRCm39) |
R541C |
probably damaging |
Het |
Ano5 |
T |
C |
7: 51,229,222 (GRCm39) |
|
probably benign |
Het |
Anp32b |
T |
C |
4: 46,471,478 (GRCm39) |
|
probably benign |
Het |
Avil |
T |
C |
10: 126,847,659 (GRCm39) |
V528A |
possibly damaging |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Cdk10 |
T |
C |
8: 123,955,062 (GRCm39) |
|
probably benign |
Het |
Cfap65 |
A |
T |
1: 74,968,499 (GRCm39) |
F111Y |
probably damaging |
Het |
Cryge |
A |
G |
1: 65,089,967 (GRCm39) |
F72L |
probably benign |
Het |
Ercc3 |
C |
T |
18: 32,397,611 (GRCm39) |
T614I |
possibly damaging |
Het |
Fgd5 |
T |
C |
6: 91,965,483 (GRCm39) |
I572T |
probably benign |
Het |
Fubp1 |
A |
G |
3: 151,921,229 (GRCm39) |
D88G |
possibly damaging |
Het |
Gcnt1 |
C |
A |
19: 17,307,168 (GRCm39) |
V186F |
possibly damaging |
Het |
Gldc |
A |
T |
19: 30,138,162 (GRCm39) |
|
probably benign |
Het |
Hps5 |
A |
T |
7: 46,421,978 (GRCm39) |
|
probably null |
Het |
Igf2bp2 |
G |
A |
16: 21,880,603 (GRCm39) |
|
probably benign |
Het |
Lamb2 |
T |
C |
9: 108,358,607 (GRCm39) |
S215P |
probably damaging |
Het |
Mfsd13b |
T |
C |
7: 120,613,766 (GRCm39) |
M421T |
probably damaging |
Het |
Mtif2 |
C |
A |
11: 29,490,729 (GRCm39) |
R478S |
possibly damaging |
Het |
Nadk2 |
G |
A |
15: 9,106,925 (GRCm39) |
R351H |
possibly damaging |
Het |
Nt5dc1 |
T |
C |
10: 34,274,169 (GRCm39) |
D167G |
possibly damaging |
Het |
Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Ppig |
T |
A |
2: 69,580,568 (GRCm39) |
S701T |
unknown |
Het |
Pramel17 |
T |
C |
4: 101,695,224 (GRCm39) |
E29G |
possibly damaging |
Het |
Ptprc |
A |
G |
1: 138,000,057 (GRCm39) |
S830P |
probably damaging |
Het |
Rev3l |
T |
A |
10: 39,727,921 (GRCm39) |
L2690* |
probably null |
Het |
Rgs22 |
A |
T |
15: 36,040,839 (GRCm39) |
S883T |
probably damaging |
Het |
Rxfp4 |
A |
G |
3: 88,559,894 (GRCm39) |
W186R |
probably damaging |
Het |
Sacm1l |
T |
C |
9: 123,395,476 (GRCm39) |
S200P |
probably benign |
Het |
Serpinb6d |
T |
A |
13: 33,855,212 (GRCm39) |
D295E |
probably damaging |
Het |
Slc38a10 |
A |
G |
11: 119,996,301 (GRCm39) |
V932A |
probably benign |
Het |
Top2b |
T |
C |
14: 16,430,329 (GRCm38) |
S1568P |
possibly damaging |
Het |
Tox |
T |
G |
4: 6,697,600 (GRCm39) |
N401T |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,933,412 (GRCm39) |
|
probably null |
Het |
Unc79 |
T |
G |
12: 103,013,311 (GRCm39) |
|
probably benign |
Het |
Vmn2r66 |
A |
T |
7: 84,644,613 (GRCm39) |
I599N |
probably benign |
Het |
Zfa-ps |
T |
A |
10: 52,419,654 (GRCm39) |
|
noncoding transcript |
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 |
IGL01533:Gxylt2
|
APN |
6 |
100,760,098 (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 |
|
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 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |