Incidental Mutation 'R7617:Gxylt2'
| ID |
588956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gxylt2
|
| Ensembl Gene |
ENSMUSG00000030074 |
| Gene Name |
glucoside xylosyltransferase 2 |
| Synonyms |
Glt8d4, LOC232313 |
| MMRRC Submission |
045684-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7617 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
100681638-100787738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100760146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 227
(W227L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032157]
|
| AlphaFold |
Q810K9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032157
AA Change: W227L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074
AA Change: W227L
| 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 |
0.8854 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (41/42) |
| 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 |
|---|
| Abca16 |
T |
G |
7: 120,102,694 (GRCm39) |
Y864* |
probably null |
Het |
| Abhd2 |
T |
C |
7: 78,998,032 (GRCm39) |
M188T |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,206,054 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
G |
T |
11: 5,637,348 (GRCm39) |
V1306L |
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,538,831 (GRCm39) |
|
probably benign |
Het |
| Btbd2 |
T |
C |
10: 80,482,226 (GRCm39) |
D258G |
probably damaging |
Het |
| Cabin1 |
C |
T |
10: 75,568,277 (GRCm39) |
R75K |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,735,348 (GRCm39) |
N507S |
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,143,970 (GRCm39) |
E311G |
probably damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,718,387 (GRCm39) |
M371T |
unknown |
Het |
| Dnah1 |
A |
T |
14: 31,006,739 (GRCm39) |
V2192E |
possibly damaging |
Het |
| Entrep3 |
T |
A |
3: 89,092,278 (GRCm39) |
I199N |
probably damaging |
Het |
| Grip2 |
A |
C |
6: 91,742,031 (GRCm39) |
|
probably null |
Het |
| Ighv6-5 |
G |
T |
12: 114,380,626 (GRCm39) |
|
probably benign |
Het |
| Jak1 |
T |
A |
4: 101,031,408 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,328,345 (GRCm39) |
D393G |
possibly damaging |
Het |
| Klf10 |
A |
T |
15: 38,297,080 (GRCm39) |
V320E |
probably damaging |
Het |
| Krt87 |
A |
T |
15: 101,336,426 (GRCm39) |
C76S |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,106,701 (GRCm39) |
D1261G |
possibly damaging |
Het |
| Myo18b |
A |
C |
5: 112,905,319 (GRCm39) |
|
probably null |
Het |
| Or4c124 |
T |
A |
2: 89,155,723 (GRCm39) |
D267V |
probably damaging |
Het |
| Oxct2a |
A |
C |
4: 123,217,150 (GRCm39) |
L77R |
probably damaging |
Het |
| P2rx2 |
A |
T |
5: 110,489,950 (GRCm39) |
C172S |
probably damaging |
Het |
| P3h3 |
A |
G |
6: 124,832,969 (GRCm39) |
Y195H |
probably damaging |
Het |
| Pex11b |
T |
C |
3: 96,544,107 (GRCm39) |
|
probably null |
Het |
| Ppm1j |
T |
A |
3: 104,691,059 (GRCm39) |
Y274* |
probably null |
Het |
| Scn9a |
A |
T |
2: 66,370,893 (GRCm39) |
D562E |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,203,156 (GRCm39) |
V557A |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,042,221 (GRCm39) |
I500T |
probably damaging |
Het |
| Sult2a3 |
C |
T |
7: 13,806,981 (GRCm39) |
V234I |
probably benign |
Het |
| Tcp10c |
T |
G |
17: 13,576,100 (GRCm39) |
L27V |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,651 (GRCm39) |
D403G |
probably benign |
Het |
| Tmprss13 |
G |
A |
9: 45,244,858 (GRCm39) |
W212* |
probably null |
Het |
| Tspoap1 |
T |
G |
11: 87,654,451 (GRCm39) |
S244A |
probably benign |
Het |
| Upb1 |
A |
C |
10: 75,260,368 (GRCm39) |
T136P |
probably benign |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,662,188 (GRCm39) |
T136A |
probably benign |
Het |
| Zfp354a |
A |
G |
11: 50,960,751 (GRCm39) |
T320A |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,641,070 (GRCm39) |
Y1225H |
probably 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 |
|
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 |
|
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 |
|
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'- CATCCTCGGGTAACAGGATG -3'
(R):5'- AACTGGGTATTTCTTATGCGAGTC -3'
Sequencing Primer
(F):5'- GCAGCTGGTATAGAGTCCGAC -3'
(R):5'- GTCAAGTTCATGAGCATGACC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation