Incidental Mutation 'IGL00434:Xylt1'
| ID |
6264 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xylt1
|
| Ensembl Gene |
ENSMUSG00000030657 |
| Gene Name |
xylosyltransferase 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
IGL00434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
116980214-117266853 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 117249912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 694
(I694N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032892]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032892
AA Change: I694N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
AA Change: I694N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
104 |
N/A |
INTRINSIC |
|
Pfam:Branch
|
322 |
577 |
7.8e-53 |
PFAM |
|
Pfam:Xylo_C
|
607 |
787 |
2.6e-73 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit partial preweaning lethality, impaired chondrocyte maturation and decreased skeletal length. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,269,181 (GRCm39) |
V1098A |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,041,448 (GRCm39) |
F2609L |
probably damaging |
Het |
| Ccdc126 |
C |
T |
6: 49,311,239 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,135,271 (GRCm39) |
L54P |
probably damaging |
Het |
| Cdsn |
A |
T |
17: 35,865,740 (GRCm39) |
S90C |
unknown |
Het |
| Clcn6 |
G |
T |
4: 148,098,195 (GRCm39) |
D581E |
probably damaging |
Het |
| Clec4f |
T |
A |
6: 83,630,198 (GRCm39) |
H120L |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,560,614 (GRCm39) |
T1838A |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,878,524 (GRCm39) |
D211G |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,381,261 (GRCm39) |
|
probably benign |
Het |
| Dgkk |
T |
A |
X: 6,772,697 (GRCm39) |
M462K |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,091,759 (GRCm39) |
H834Q |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,353,504 (GRCm39) |
Y578H |
possibly damaging |
Het |
| Fnip2 |
C |
A |
3: 79,419,796 (GRCm39) |
|
probably benign |
Het |
| Fut1 |
T |
G |
7: 45,268,855 (GRCm39) |
C270G |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,884,707 (GRCm39) |
V170D |
probably damaging |
Het |
| Gys1 |
T |
A |
7: 45,094,256 (GRCm39) |
M364K |
possibly damaging |
Het |
| Ighv1-85 |
A |
C |
12: 115,963,654 (GRCm39) |
C115W |
probably damaging |
Het |
| Igkv4-74 |
T |
G |
6: 69,162,044 (GRCm39) |
T42P |
probably damaging |
Het |
| Jmjd4 |
A |
G |
11: 59,341,321 (GRCm39) |
Y84C |
probably damaging |
Het |
| Kif11 |
A |
C |
19: 37,399,857 (GRCm39) |
E781D |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Klf1 |
C |
T |
8: 85,628,628 (GRCm39) |
P9S |
possibly damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,191 (GRCm39) |
|
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,028,230 (GRCm39) |
R309L |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,293,014 (GRCm39) |
E131G |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mgme1 |
T |
A |
2: 144,121,056 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
G |
A |
11: 100,515,808 (GRCm39) |
G45D |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,532,875 (GRCm39) |
D16E |
possibly damaging |
Het |
| Pcyox1l |
T |
C |
18: 61,830,613 (GRCm39) |
T420A |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,826,088 (GRCm39) |
G302C |
probably damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,741,738 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,503 (GRCm39) |
D89G |
probably damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,776 (GRCm39) |
R302H |
probably benign |
Het |
| Riok3 |
T |
C |
18: 12,281,904 (GRCm39) |
V291A |
probably damaging |
Het |
| Rragd |
A |
G |
4: 33,007,219 (GRCm39) |
|
probably benign |
Het |
| Scai |
C |
A |
2: 38,998,406 (GRCm39) |
L174F |
probably damaging |
Het |
| Slc25a44 |
T |
C |
3: 88,323,369 (GRCm39) |
I227V |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,938,548 (GRCm39) |
L160P |
probably damaging |
Het |
| Slc38a1 |
A |
G |
15: 96,483,504 (GRCm39) |
Y275H |
possibly damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,916,375 (GRCm39) |
|
noncoding transcript |
Het |
| Spag8 |
G |
T |
4: 43,652,890 (GRCm39) |
C190* |
probably null |
Het |
| Tbr1 |
T |
C |
2: 61,635,625 (GRCm39) |
F192L |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,850,886 (GRCm39) |
E118K |
probably damaging |
Het |
| Tti1 |
T |
A |
2: 157,850,885 (GRCm39) |
E118V |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,852,821 (GRCm39) |
P713Q |
probably damaging |
Het |
| Vcf2 |
A |
T |
X: 149,181,395 (GRCm39) |
V132E |
possibly damaging |
Het |
| Wt1 |
G |
T |
2: 104,974,486 (GRCm39) |
|
probably null |
Het |
| Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
Het |
|
| Other mutations in Xylt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Xylt1
|
APN |
7 |
117,148,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01656:Xylt1
|
APN |
7 |
117,148,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02152:Xylt1
|
APN |
7 |
117,233,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02188:Xylt1
|
APN |
7 |
117,233,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02732:Xylt1
|
APN |
7 |
117,191,164 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02944:Xylt1
|
APN |
7 |
117,233,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03308:Xylt1
|
APN |
7 |
117,236,978 (GRCm39) |
nonsense |
probably null |
|
|
IGL03393:Xylt1
|
APN |
7 |
117,192,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
phloem
|
UTSW |
7 |
117,255,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
xylem
|
UTSW |
7 |
117,191,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU23:Xylt1
|
UTSW |
7 |
117,148,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4378001:Xylt1
|
UTSW |
7 |
117,148,100 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0023:Xylt1
|
UTSW |
7 |
117,233,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Xylt1
|
UTSW |
7 |
117,233,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0970:Xylt1
|
UTSW |
7 |
117,233,963 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1433:Xylt1
|
UTSW |
7 |
117,191,179 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1762:Xylt1
|
UTSW |
7 |
117,236,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2169:Xylt1
|
UTSW |
7 |
117,266,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Xylt1
|
UTSW |
7 |
117,234,011 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3024:Xylt1
|
UTSW |
7 |
117,147,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Xylt1
|
UTSW |
7 |
117,192,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4006:Xylt1
|
UTSW |
7 |
117,074,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4329:Xylt1
|
UTSW |
7 |
117,255,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4794:Xylt1
|
UTSW |
7 |
117,236,862 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4975:Xylt1
|
UTSW |
7 |
117,266,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:Xylt1
|
UTSW |
7 |
117,191,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5679:Xylt1
|
UTSW |
7 |
117,242,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5707:Xylt1
|
UTSW |
7 |
117,255,717 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5756:Xylt1
|
UTSW |
7 |
117,249,927 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5802:Xylt1
|
UTSW |
7 |
117,255,914 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6057:Xylt1
|
UTSW |
7 |
117,191,135 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6249:Xylt1
|
UTSW |
7 |
117,266,528 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6298:Xylt1
|
UTSW |
7 |
117,255,960 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7159:Xylt1
|
UTSW |
7 |
117,236,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7198:Xylt1
|
UTSW |
7 |
117,255,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7323:Xylt1
|
UTSW |
7 |
117,191,274 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7449:Xylt1
|
UTSW |
7 |
117,191,232 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7545:Xylt1
|
UTSW |
7 |
117,192,812 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7786:Xylt1
|
UTSW |
7 |
117,242,702 (GRCm39) |
splice site |
probably null |
|
|
R7849:Xylt1
|
UTSW |
7 |
117,255,891 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7867:Xylt1
|
UTSW |
7 |
117,074,749 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8169:Xylt1
|
UTSW |
7 |
117,249,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8686:Xylt1
|
UTSW |
7 |
116,980,594 (GRCm39) |
missense |
unknown |
|
|
R8942:Xylt1
|
UTSW |
7 |
117,233,971 (GRCm39) |
nonsense |
probably null |
|
|
R9019:Xylt1
|
UTSW |
7 |
117,250,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9209:Xylt1
|
UTSW |
7 |
117,255,870 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9393:Xylt1
|
UTSW |
7 |
117,242,906 (GRCm39) |
missense |
probably benign |
|
|
R9721:Xylt1
|
UTSW |
7 |
117,148,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-04-20 |
Incidental Mutation