Incidental Mutation 'R4112:Gxylt2'
| ID |
314454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gxylt2
|
| Ensembl Gene |
ENSMUSG00000030074 |
| Gene Name |
glucoside xylosyltransferase 2 |
| Synonyms |
Glt8d4, LOC232313 |
| MMRRC Submission |
040989-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4112 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
100681638-100787738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100760167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 234
(N234S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032157]
|
| AlphaFold |
Q810K9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032157
AA Change: N234S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032157
Gene: ENSMUSG00000030074
AA Change: N234S
| 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 |
0.5539 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
| Validation Efficiency |
97% (56/58) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Aamp |
A |
G |
1: 74,320,386 (GRCm39) |
|
probably benign |
Het |
| Abcb4 |
A |
G |
5: 8,986,783 (GRCm39) |
|
probably null |
Het |
| Adam6b |
T |
A |
12: 113,453,256 (GRCm39) |
F24L |
possibly damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,749,139 (GRCm39) |
Q326L |
probably damaging |
Het |
| Armc9 |
T |
A |
1: 86,116,661 (GRCm39) |
I327N |
possibly damaging |
Het |
| Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
| Ccdc162 |
T |
A |
10: 41,532,324 (GRCm39) |
E450V |
possibly damaging |
Het |
| Ccdc7b |
G |
T |
8: 129,811,708 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,814,628 (GRCm39) |
S728P |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,844 (GRCm39) |
L168P |
probably damaging |
Het |
| Cnot1 |
A |
C |
8: 96,500,246 (GRCm39) |
L111V |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,226,955 (GRCm39) |
N235I |
unknown |
Het |
| Col2a1 |
A |
C |
15: 97,881,582 (GRCm39) |
L787R |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,939,841 (GRCm39) |
D55E |
probably benign |
Het |
| Dennd6a |
A |
T |
14: 26,349,673 (GRCm39) |
|
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Etfbkmt |
T |
C |
6: 149,046,089 (GRCm39) |
|
probably benign |
Het |
| Etfrf1 |
T |
C |
6: 145,161,098 (GRCm39) |
Y23H |
probably damaging |
Het |
| Gemin4 |
T |
A |
11: 76,103,645 (GRCm39) |
E372V |
probably damaging |
Het |
| Glyr1 |
T |
C |
16: 4,836,350 (GRCm39) |
K500E |
possibly damaging |
Het |
| Gm10271 |
A |
T |
10: 116,803,943 (GRCm39) |
|
probably benign |
Het |
| Gm20775 |
A |
T |
Y: 10,641,878 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5578 |
A |
G |
6: 112,583,466 (GRCm39) |
|
noncoding transcript |
Het |
| Kcna6 |
G |
C |
6: 126,716,737 (GRCm39) |
R51G |
probably damaging |
Het |
| Klf17 |
A |
G |
4: 117,617,898 (GRCm39) |
V153A |
possibly damaging |
Het |
| L3mbtl2 |
T |
C |
15: 81,566,170 (GRCm39) |
V331A |
possibly damaging |
Het |
| Med1 |
A |
T |
11: 98,070,913 (GRCm39) |
V110E |
probably damaging |
Het |
| Nsmaf |
A |
C |
4: 6,417,188 (GRCm39) |
Y535* |
probably null |
Het |
| Pcdh10 |
G |
A |
3: 45,336,055 (GRCm39) |
V790M |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,292,068 (GRCm39) |
T976A |
probably damaging |
Het |
| Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,351,284 (GRCm39) |
|
probably null |
Het |
| Rbm5 |
A |
T |
9: 107,642,796 (GRCm39) |
D79E |
probably damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Rnd3 |
T |
A |
2: 51,038,242 (GRCm39) |
T78S |
possibly damaging |
Het |
| Scart2 |
G |
T |
7: 139,878,281 (GRCm39) |
G1003* |
probably null |
Het |
| Sgca |
T |
C |
11: 94,863,396 (GRCm39) |
T27A |
possibly damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,155,135 (GRCm39) |
D17N |
probably benign |
Het |
| Snap23 |
C |
T |
2: 120,414,856 (GRCm39) |
|
probably benign |
Het |
| Sptb |
T |
A |
12: 76,644,553 (GRCm39) |
T2098S |
probably damaging |
Het |
| Src |
T |
A |
2: 157,304,946 (GRCm39) |
L165H |
probably damaging |
Het |
| Srr |
G |
T |
11: 74,803,898 (GRCm39) |
Q20K |
probably benign |
Het |
| Stt3b |
A |
T |
9: 115,095,206 (GRCm39) |
F275Y |
probably damaging |
Het |
| Sucnr1 |
C |
G |
3: 59,994,215 (GRCm39) |
R248G |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 130,044,356 (GRCm39) |
D1112V |
probably benign |
Het |
| Tmem80 |
A |
G |
7: 140,913,692 (GRCm39) |
|
probably benign |
Het |
| Top2a |
C |
A |
11: 98,913,786 (GRCm39) |
K18N |
probably damaging |
Het |
| Ttc24 |
T |
A |
3: 87,981,946 (GRCm39) |
D40V |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp3 |
T |
A |
11: 70,662,333 (GRCm39) |
S97R |
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 |
|
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 |
PCR Primer
(F):5'- TCATCCTCGGGTAACAGGATG -3'
(R):5'- ACTCCTAGGCTTTATATGAGCTC -3'
Sequencing Primer
(F):5'- GTATAGAGTCCGACATTGGTCAC -3'
(R):5'- GAGCTCTTTCTTACCTTGAACTGGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation