Incidental Mutation 'R1140:Xxylt1'
| ID |
102064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xxylt1
|
| Ensembl Gene |
ENSMUSG00000047434 |
| Gene Name |
xyloside xylosyltransferase 1 |
| Synonyms |
AI480653 |
| MMRRC Submission |
039213-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1140 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
30774165-30900250 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 30826666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055389]
[ENSMUST00000055389]
|
| AlphaFold |
Q3U4G3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055389
|
| SMART Domains |
Protein: ENSMUSP00000050246
Gene: ENSMUSG00000047434
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
87 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
103 |
369 |
6.8e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000055389
|
| SMART Domains |
Protein: ENSMUSP00000050246
Gene: ENSMUSG00000047434
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
87 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
103 |
369 |
6.8e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153859
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
T |
A |
8: 120,876,874 (GRCm39) |
S161T |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,981,609 (GRCm39) |
D964E |
probably damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,562,729 (GRCm39) |
I215V |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,473,096 (GRCm39) |
I1656F |
possibly damaging |
Het |
| Aurka |
T |
C |
2: 172,199,149 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep83 |
A |
G |
10: 94,573,752 (GRCm39) |
K214E |
probably damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,749,160 (GRCm39) |
T209S |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,953,643 (GRCm39) |
M363T |
possibly damaging |
Het |
| Dsc2 |
C |
A |
18: 20,165,269 (GRCm39) |
K901N |
probably damaging |
Het |
| Fam234b |
A |
T |
6: 135,202,756 (GRCm39) |
H370L |
probably benign |
Het |
| Fanca |
A |
C |
8: 124,039,868 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
C |
T |
2: 130,458,135 (GRCm39) |
V152I |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,994,258 (GRCm39) |
R337G |
unknown |
Het |
| Fsip2 |
T |
A |
2: 82,805,378 (GRCm39) |
Y566N |
probably damaging |
Het |
| Gsc |
A |
T |
12: 104,439,361 (GRCm39) |
M5K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,733 (GRCm39) |
E1893G |
unknown |
Het |
| Myh7 |
T |
C |
14: 55,210,339 (GRCm39) |
T1789A |
probably damaging |
Het |
| Npr2 |
A |
G |
4: 43,648,353 (GRCm39) |
T884A |
possibly damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,680 (GRCm39) |
M158L |
probably benign |
Het |
| Parg |
T |
C |
14: 32,018,200 (GRCm39) |
S432P |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,111,420 (GRCm39) |
V162A |
probably benign |
Het |
| Samsn1 |
C |
T |
16: 75,685,630 (GRCm39) |
E43K |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,858,949 (GRCm39) |
V361I |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,405,739 (GRCm39) |
N2981I |
probably damaging |
Het |
| Stk32c |
C |
T |
7: 138,705,095 (GRCm39) |
R23Q |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,366,118 (GRCm39) |
S231P |
possibly damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,108,429 (GRCm39) |
V374A |
possibly damaging |
Het |
|
| Other mutations in Xxylt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0387:Xxylt1
|
UTSW |
16 |
30,776,194 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0412:Xxylt1
|
UTSW |
16 |
30,826,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Xxylt1
|
UTSW |
16 |
30,776,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Xxylt1
|
UTSW |
16 |
30,869,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5808:Xxylt1
|
UTSW |
16 |
30,869,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Xxylt1
|
UTSW |
16 |
30,899,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6208:Xxylt1
|
UTSW |
16 |
30,826,626 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8017:Xxylt1
|
UTSW |
16 |
30,826,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8339:Xxylt1
|
UTSW |
16 |
30,899,858 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8738:Xxylt1
|
UTSW |
16 |
30,899,964 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9101:Xxylt1
|
UTSW |
16 |
30,899,745 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9418:Xxylt1
|
UTSW |
16 |
30,826,624 (GRCm39) |
nonsense |
probably null |
|
|
R9525:Xxylt1
|
UTSW |
16 |
30,869,593 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF007:Xxylt1
|
UTSW |
16 |
30,869,498 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation