Incidental Mutation 'R3159:Gxylt1'
| ID |
258076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gxylt1
|
| Ensembl Gene |
ENSMUSG00000036197 |
| Gene Name |
glucoside xylosyltransferase 1 |
| Synonyms |
LOC382997, LOC223827, Glt8d3 |
| MMRRC Submission |
040610-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3159 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
93137623-93173060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93142913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 384
(I384T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049484]
[ENSMUST00000057896]
[ENSMUST00000230063]
|
| AlphaFold |
Q3UHH8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049484
|
| SMART Domains |
Protein: ENSMUSP00000047281
Gene: ENSMUSG00000036197
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
69 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
81 |
330 |
9.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057896
AA Change: I415T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000081947
Gene: ENSMUSG00000036197
AA Change: I415T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
69 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
103 |
359 |
4.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230063
AA Change: I384T
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0808 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
T |
C |
3: 37,013,564 (GRCm39) |
V1931A |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,604,790 (GRCm39) |
E16G |
unknown |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cdk15 |
T |
C |
1: 59,340,440 (GRCm39) |
I313T |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,704,909 (GRCm39) |
V464A |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,479,710 (GRCm39) |
T1146A |
probably benign |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm5145 |
A |
G |
17: 20,791,155 (GRCm39) |
I178V |
probably benign |
Het |
| Hmgcr |
C |
T |
13: 96,802,355 (GRCm39) |
V110I |
probably damaging |
Het |
| Hsd17b2 |
A |
C |
8: 118,485,491 (GRCm39) |
D318A |
probably damaging |
Het |
| Ighv8-6 |
A |
G |
12: 115,129,508 (GRCm39) |
S83P |
probably damaging |
Het |
| Isg20 |
C |
A |
7: 78,564,201 (GRCm39) |
A36E |
possibly damaging |
Het |
| Jade3 |
A |
G |
X: 20,345,783 (GRCm39) |
K54E |
probably damaging |
Het |
| Mark1 |
A |
T |
1: 184,640,584 (GRCm39) |
Y505N |
probably damaging |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Ociad1 |
A |
T |
5: 73,467,688 (GRCm39) |
R155* |
probably null |
Het |
| Or5t7 |
A |
G |
2: 86,506,855 (GRCm39) |
I274T |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,074,250 (GRCm39) |
T627I |
probably damaging |
Het |
| Polg2 |
A |
C |
11: 106,659,163 (GRCm39) |
V450G |
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,646,105 (GRCm39) |
V33D |
possibly damaging |
Het |
| Rfx6 |
A |
T |
10: 51,602,816 (GRCm39) |
R778W |
probably damaging |
Het |
| Sav1 |
A |
T |
12: 70,031,326 (GRCm39) |
D65E |
probably benign |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,635,611 (GRCm39) |
N328K |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,766 (GRCm39) |
R351L |
probably damaging |
Het |
| Slc9b1 |
G |
A |
3: 135,077,606 (GRCm39) |
G100E |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,592,812 (GRCm39) |
Y1214H |
probably benign |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Tgfb3 |
A |
T |
12: 86,105,760 (GRCm39) |
W332R |
probably damaging |
Het |
| Tmem132a |
C |
T |
19: 10,836,901 (GRCm39) |
W680* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trav4-4-dv10 |
A |
T |
14: 53,921,559 (GRCm39) |
K86* |
probably null |
Het |
| Zfp667 |
T |
C |
7: 6,308,999 (GRCm39) |
C556R |
probably damaging |
Het |
| Zranb3 |
A |
G |
1: 127,900,686 (GRCm39) |
I713T |
probably benign |
Het |
|
| Other mutations in Gxylt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Gxylt1
|
APN |
15 |
93,152,273 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03403:Gxylt1
|
APN |
15 |
93,159,656 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
PIT4260001:Gxylt1
|
UTSW |
15 |
93,159,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Gxylt1
|
UTSW |
15 |
93,152,436 (GRCm39) |
splice site |
probably benign |
|
|
R0040:Gxylt1
|
UTSW |
15 |
93,152,436 (GRCm39) |
splice site |
probably benign |
|
|
R1033:Gxylt1
|
UTSW |
15 |
93,142,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1413:Gxylt1
|
UTSW |
15 |
93,152,273 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2132:Gxylt1
|
UTSW |
15 |
93,142,851 (GRCm39) |
makesense |
probably null |
|
|
R2144:Gxylt1
|
UTSW |
15 |
93,152,361 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3157:Gxylt1
|
UTSW |
15 |
93,142,913 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5436:Gxylt1
|
UTSW |
15 |
93,145,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Gxylt1
|
UTSW |
15 |
93,152,180 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5570:Gxylt1
|
UTSW |
15 |
93,152,180 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5599:Gxylt1
|
UTSW |
15 |
93,152,198 (GRCm39) |
small deletion |
probably benign |
|
|
R5656:Gxylt1
|
UTSW |
15 |
93,143,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Gxylt1
|
UTSW |
15 |
93,143,539 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9369:Gxylt1
|
UTSW |
15 |
93,172,896 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGAGCACAAGAGTTCAAC -3'
(R):5'- GTGTACTTCATGTGAGATAGCAAATGG -3'
Sequencing Primer
(F):5'- TGGAGCACAAGAGTTCAACTTACTC -3'
(R):5'- TCATGTGAGATAGCAAATGGTAGTTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation