Incidental Mutation 'R7786:Xylt1'
| ID |
628609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xylt1
|
| Ensembl Gene |
ENSMUSG00000030657 |
| Gene Name |
xylosyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
045842-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R7786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
116980214-117266853 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 117242702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032892]
[ENSMUST00000032892]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032892
|
| SMART Domains |
Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000032892
|
| SMART Domains |
Protein: ENSMUSP00000032892
Gene: ENSMUSG00000030657
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
95% (42/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
T |
C |
18: 74,925,518 (GRCm39) |
S94P |
probably damaging |
Het |
| Adam18 |
C |
T |
8: 25,101,134 (GRCm39) |
R676H |
probably benign |
Het |
| Akna |
A |
G |
4: 63,313,199 (GRCm39) |
L308P |
probably benign |
Het |
| Ambra1 |
G |
C |
2: 91,598,141 (GRCm39) |
V101L |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,392,267 (GRCm39) |
D377G |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,612,092 (GRCm39) |
W179R |
probably damaging |
Het |
| Cit |
C |
A |
5: 116,001,077 (GRCm39) |
Q159K |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,984,478 (GRCm39) |
H3935Q |
probably damaging |
Het |
| Emc8 |
T |
C |
8: 121,394,656 (GRCm39) |
Y21C |
probably damaging |
Het |
| Fcrla |
G |
T |
1: 170,748,426 (GRCm39) |
P265Q |
possibly damaging |
Het |
| Gabbr1 |
A |
T |
17: 37,380,955 (GRCm39) |
N766I |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 74,016,976 (GRCm39) |
T27S |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,766,403 (GRCm39) |
S391T |
probably benign |
Het |
| Gatad2b |
T |
C |
3: 90,262,986 (GRCm39) |
I476T |
probably damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Gtf2ird1 |
C |
A |
5: 134,419,753 (GRCm39) |
G71* |
probably null |
Het |
| Hdac11 |
T |
A |
6: 91,150,158 (GRCm39) |
L319* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,506 (GRCm39) |
W4R |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,464,466 (GRCm39) |
I1278V |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,798,965 (GRCm39) |
E240V |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,812,085 (GRCm39) |
Q180* |
probably null |
Het |
| Megf8 |
T |
C |
7: 25,017,120 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,313,511 (GRCm39) |
T892A |
probably benign |
Het |
| Mmp21 |
C |
T |
7: 133,276,764 (GRCm39) |
S413N |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,397,733 (GRCm39) |
D812G |
probably damaging |
Het |
| Nox4 |
T |
A |
7: 86,945,050 (GRCm39) |
I71N |
probably damaging |
Het |
| Oplah |
T |
A |
15: 76,193,916 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or51i2 |
G |
A |
7: 103,689,930 (GRCm39) |
R309H |
unknown |
Het |
| Or52p1 |
T |
A |
7: 104,266,925 (GRCm39) |
I13N |
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,576,645 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pik3ap1 |
A |
G |
19: 41,310,024 (GRCm39) |
M432T |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,586,757 (GRCm39) |
T430I |
probably benign |
Het |
| Poc5 |
C |
A |
13: 96,541,027 (GRCm39) |
Q399K |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,036,992 (GRCm39) |
G2013R |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,190,568 (GRCm39) |
D52G |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,901,276 (GRCm39) |
F2488V |
probably damaging |
Het |
| Tnfaip8 |
G |
C |
18: 50,180,178 (GRCm39) |
A110P |
unknown |
Het |
| Tnfaip8 |
C |
T |
18: 50,180,179 (GRCm39) |
A110V |
unknown |
Het |
| Top3a |
C |
T |
11: 60,667,792 (GRCm39) |
A46T |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,332,463 (GRCm39) |
S40T |
possibly damaging |
Het |
| Vav2 |
C |
A |
2: 27,276,613 (GRCm39) |
L70F |
probably damaging |
Het |
|
| Other mutations in Xylt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Xylt1
|
APN |
7 |
117,249,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGCTTTGATGCCTTACAG -3'
(R):5'- TACAGGGTGAGGGCTACATC -3'
Sequencing Primer
(F):5'- GCTTTGATGCCTTACAGATACCAAC -3'
(R):5'- TGAGGGCTACATCGCTGAG -3'
|
| Posted On |
2020-05-18 |
Incidental Mutation