Incidental Mutation 'R5206:Gxylt2'
ID |
402026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gxylt2
|
Ensembl Gene |
ENSMUSG00000030074 |
Gene Name |
glucoside xylosyltransferase 2 |
Synonyms |
Glt8d4, LOC232313 |
MMRRC Submission |
042781-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5206 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
100681638-100787738 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100781576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 417
(V417A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032157]
|
AlphaFold |
Q810K9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032157
AA Change: V417A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032157 Gene: ENSMUSG00000030074 AA Change: V417A
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,772,272 (GRCm39) |
E487G |
probably benign |
Het |
2610021A01Rik |
A |
T |
7: 41,276,009 (GRCm39) |
K571* |
probably null |
Het |
A2m |
T |
C |
6: 121,651,766 (GRCm39) |
V1278A |
probably damaging |
Het |
Abcc2 |
T |
C |
19: 43,806,589 (GRCm39) |
V801A |
probably damaging |
Het |
Acod1 |
T |
A |
14: 103,292,731 (GRCm39) |
D418E |
possibly damaging |
Het |
Bsn |
G |
A |
9: 107,982,572 (GRCm39) |
A3727V |
unknown |
Het |
Cmah |
T |
G |
13: 24,648,267 (GRCm39) |
F501V |
probably damaging |
Het |
Csf2rb2 |
T |
A |
15: 78,176,952 (GRCm39) |
I173L |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,491,942 (GRCm39) |
W1126R |
probably damaging |
Het |
Dock5 |
G |
T |
14: 68,000,633 (GRCm39) |
A1690E |
probably benign |
Het |
Dop1b |
T |
C |
16: 93,598,472 (GRCm39) |
L1879P |
probably damaging |
Het |
Eif3j2 |
A |
T |
18: 43,610,647 (GRCm39) |
D55E |
probably benign |
Het |
Fam83f |
G |
A |
15: 80,576,255 (GRCm39) |
G302D |
possibly damaging |
Het |
Fus |
G |
A |
7: 127,568,969 (GRCm39) |
G40D |
unknown |
Het |
Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
Hhipl1 |
G |
A |
12: 108,278,437 (GRCm39) |
R255H |
probably damaging |
Het |
Ints8 |
A |
T |
4: 11,216,477 (GRCm39) |
I838N |
possibly damaging |
Het |
Lama5 |
C |
A |
2: 179,833,097 (GRCm39) |
C1579F |
probably damaging |
Het |
Med13 |
C |
T |
11: 86,210,705 (GRCm39) |
R479H |
probably damaging |
Het |
Or51ag1 |
A |
T |
7: 103,155,309 (GRCm39) |
Y281* |
probably null |
Het |
Or5b113 |
G |
T |
19: 13,342,429 (GRCm39) |
G146C |
possibly damaging |
Het |
Or5k15 |
G |
T |
16: 58,710,381 (GRCm39) |
N67K |
probably damaging |
Het |
Or6e1 |
T |
A |
14: 54,520,155 (GRCm39) |
M66L |
probably benign |
Het |
Or9g3 |
T |
A |
2: 85,589,967 (GRCm39) |
Y251F |
probably benign |
Het |
Pak6 |
A |
G |
2: 118,523,784 (GRCm39) |
E313G |
probably benign |
Het |
Pigs |
T |
A |
11: 78,224,549 (GRCm39) |
Y145N |
probably damaging |
Het |
Pla2g2f |
T |
A |
4: 138,479,662 (GRCm39) |
D165V |
probably benign |
Het |
Plbd1 |
C |
T |
6: 136,618,154 (GRCm39) |
V133M |
probably benign |
Het |
Ppp1r14bl |
C |
T |
1: 23,141,183 (GRCm39) |
G44R |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,675,056 (GRCm39) |
Y1352C |
probably damaging |
Het |
Scamp1 |
C |
T |
13: 94,368,615 (GRCm39) |
R51H |
probably damaging |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Slc2a2 |
G |
A |
3: 28,762,756 (GRCm39) |
V100M |
probably damaging |
Het |
Slc38a10 |
C |
G |
11: 119,995,888 (GRCm39) |
A1062P |
probably damaging |
Het |
Snai1 |
T |
C |
2: 167,380,888 (GRCm39) |
I127T |
probably benign |
Het |
Stat4 |
G |
A |
1: 52,144,395 (GRCm39) |
G692D |
probably damaging |
Het |
Stc1 |
A |
T |
14: 69,269,048 (GRCm39) |
D72V |
probably damaging |
Het |
Tmc1 |
T |
C |
19: 20,804,024 (GRCm39) |
N351S |
probably damaging |
Het |
Trim28 |
A |
G |
7: 12,759,275 (GRCm39) |
I130V |
probably benign |
Het |
Trim39 |
A |
G |
17: 36,571,382 (GRCm39) |
Y459H |
probably damaging |
Het |
Ugt1a6b |
C |
A |
1: 88,035,170 (GRCm39) |
Y169* |
probably null |
Het |
Vasp |
T |
C |
7: 18,992,780 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
G |
T |
17: 19,598,868 (GRCm39) |
G184V |
probably benign |
Het |
Xrcc1 |
C |
T |
7: 24,266,988 (GRCm39) |
T358I |
probably damaging |
Het |
Zfp219 |
A |
G |
14: 52,247,022 (GRCm39) |
V35A |
probably benign |
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 |
|
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 |
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 |
PCR Primer
(F):5'- ACCACTGGGCCAAAGCTTAG -3'
(R):5'- TTGAACCGCAACAGTCACAGAG -3'
Sequencing Primer
(F):5'- TTAATCCCAGCATTCGGGAG -3'
(R):5'- AGTCACAGAGCACCATTAAATATTC -3'
|
Posted On |
2016-07-22 |