Incidental Mutation 'R4378:Gxylt2'
| ID |
325192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gxylt2
|
| Ensembl Gene |
ENSMUSG00000030074 |
| Gene Name |
glucoside xylosyltransferase 2 |
| Synonyms |
Glt8d4, LOC232313 |
| MMRRC Submission |
041121-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4378 (G1)
|
| Quality Score |
148 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
100681638-100787738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100710161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 101
(S101G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032157]
|
| AlphaFold |
Q810K9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032157
AA Change: S101G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074
AA Change: S101G
| 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 |
0.0984 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (47/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,243,644 (GRCm39) |
K1836E |
probably benign |
Het |
| Adora1 |
A |
G |
1: 134,130,948 (GRCm39) |
F241S |
probably damaging |
Het |
| Akt1s1 |
C |
T |
7: 44,503,384 (GRCm39) |
T168M |
probably damaging |
Het |
| Amigo1 |
C |
T |
3: 108,099,069 (GRCm39) |
|
probably benign |
Het |
| Amigo2 |
A |
G |
15: 97,143,859 (GRCm39) |
F188L |
possibly damaging |
Het |
| Armc2 |
T |
C |
10: 41,869,078 (GRCm39) |
T29A |
possibly damaging |
Het |
| Axl |
G |
A |
7: 25,458,262 (GRCm39) |
A822V |
probably benign |
Het |
| Borcs5 |
T |
C |
6: 134,621,292 (GRCm39) |
V21A |
probably benign |
Het |
| Cdc42ep3 |
A |
G |
17: 79,642,408 (GRCm39) |
S171P |
probably benign |
Het |
| Cmas |
T |
C |
6: 142,718,011 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
A |
G |
17: 32,887,003 (GRCm39) |
N158S |
probably null |
Het |
| Dnah6 |
G |
T |
6: 73,095,009 (GRCm39) |
N2139K |
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,557,286 (GRCm39) |
H409L |
possibly damaging |
Het |
| Exoc1l |
A |
G |
5: 76,648,380 (GRCm39) |
K62R |
probably damaging |
Het |
| Exoc4 |
T |
A |
6: 33,792,622 (GRCm39) |
V584E |
probably damaging |
Het |
| Gm9116 |
A |
G |
3: 93,817,786 (GRCm39) |
|
noncoding transcript |
Het |
| Hsph1 |
C |
A |
5: 149,559,472 (GRCm39) |
E24* |
probably null |
Het |
| Ighv1-56 |
C |
T |
12: 115,206,568 (GRCm39) |
E50K |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrriq1 |
A |
T |
10: 103,038,225 (GRCm39) |
D859E |
probably damaging |
Het |
| Mapk7 |
G |
A |
11: 61,384,493 (GRCm39) |
S71L |
probably damaging |
Het |
| Nars1 |
A |
G |
18: 64,634,424 (GRCm39) |
Y500H |
probably damaging |
Het |
| Or1j1 |
T |
C |
2: 36,702,481 (GRCm39) |
M208V |
probably benign |
Het |
| Or5d20-ps1 |
G |
T |
2: 87,931,829 (GRCm39) |
N167K |
unknown |
Het |
| Phc1 |
T |
C |
6: 122,311,966 (GRCm39) |
N64S |
possibly damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,159,450 (GRCm39) |
N180K |
possibly damaging |
Het |
| Primpol |
G |
A |
8: 47,029,218 (GRCm39) |
|
probably benign |
Het |
| Prtg |
T |
C |
9: 72,750,042 (GRCm39) |
S149P |
possibly damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,741 (GRCm39) |
S1916G |
probably damaging |
Het |
| Rps6ka5 |
A |
T |
12: 100,564,196 (GRCm39) |
Y218N |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,899,833 (GRCm39) |
D1278G |
possibly damaging |
Het |
| Sirt1 |
C |
T |
10: 63,174,728 (GRCm39) |
A8T |
probably benign |
Het |
| Sobp |
C |
T |
10: 42,897,300 (GRCm39) |
V762I |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,915,581 (GRCm39) |
S1994P |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,347,636 (GRCm39) |
I87T |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,278,004 (GRCm39) |
Y1168C |
probably damaging |
Het |
| Trhr |
A |
G |
15: 44,061,023 (GRCm39) |
Y181C |
probably damaging |
Het |
| Ube4b |
C |
T |
4: 149,468,255 (GRCm39) |
D174N |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,137,751 (GRCm39) |
H1067Y |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,650,746 (GRCm39) |
L153* |
probably null |
Het |
| Zfp516 |
T |
A |
18: 83,005,305 (GRCm39) |
D736E |
probably benign |
Het |
| Zfp612 |
G |
T |
8: 110,815,683 (GRCm39) |
V258F |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- CGGTGACTCATCTCATTATGGC -3'
(R):5'- CGTCACCTGTTTATCAAACTCGG -3'
Sequencing Primer
(F):5'- ATGGTGTTTTTCTACAAGCAGGAAG -3'
(R):5'- GTTTATCAAACTCGGGCTTCAGAGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation