Incidental Mutation 'IGL00710:Ext1'
ID |
13458 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ext1
|
Ensembl Gene |
ENSMUSG00000061731 |
Gene Name |
exostoses (multiple) 1 |
Synonyms |
|
Accession Numbers |
|
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00710
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
53064038-53346159 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53344873 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 164
(D164G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077273]
[ENSMUST00000133362]
|
AlphaFold |
P97464 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077273
AA Change: D164G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000076505 Gene: ENSMUSG00000061731 AA Change: D164G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
Pfam:Exostosin
|
110 |
396 |
6e-64 |
PFAM |
Pfam:Glyco_transf_64
|
480 |
729 |
1.1e-106 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133362
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display a lethal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 6 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Birc6 |
A |
G |
17: 74,609,089 |
T1667A |
probably benign |
Het |
Myo9a |
A |
G |
9: 59,875,311 |
Y1754C |
probably damaging |
Het |
Ptpn6 |
A |
T |
6: 124,732,356 |
|
probably null |
Het |
Sema6d |
A |
G |
2: 124,662,288 |
K617R |
probably benign |
Het |
Ugt2b34 |
T |
C |
5: 86,906,589 |
Y111C |
probably damaging |
Het |
Wdr73 |
A |
C |
7: 80,893,663 |
I168S |
probably benign |
Het |
|
Other mutations in Ext1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02081:Ext1
|
APN |
15 |
53073446 |
nonsense |
probably null |
|
IGL03147:Ext1
|
UTSW |
15 |
53088072 |
missense |
probably damaging |
0.98 |
R0047:Ext1
|
UTSW |
15 |
53345146 |
missense |
probably benign |
|
R0047:Ext1
|
UTSW |
15 |
53345146 |
missense |
probably benign |
|
R0437:Ext1
|
UTSW |
15 |
53106106 |
missense |
probably damaging |
1.00 |
R0881:Ext1
|
UTSW |
15 |
53344483 |
missense |
probably benign |
0.23 |
R1882:Ext1
|
UTSW |
15 |
53075792 |
missense |
probably damaging |
1.00 |
R2135:Ext1
|
UTSW |
15 |
53101744 |
missense |
possibly damaging |
0.88 |
R2175:Ext1
|
UTSW |
15 |
53068728 |
missense |
probably damaging |
1.00 |
R2762:Ext1
|
UTSW |
15 |
53344927 |
missense |
probably benign |
0.29 |
R3162:Ext1
|
UTSW |
15 |
53344604 |
missense |
possibly damaging |
0.82 |
R3162:Ext1
|
UTSW |
15 |
53344604 |
missense |
possibly damaging |
0.82 |
R3752:Ext1
|
UTSW |
15 |
53075910 |
missense |
probably damaging |
1.00 |
R3815:Ext1
|
UTSW |
15 |
53345089 |
missense |
probably benign |
0.05 |
R4096:Ext1
|
UTSW |
15 |
53073357 |
missense |
probably damaging |
1.00 |
R4298:Ext1
|
UTSW |
15 |
53345125 |
missense |
probably benign |
0.02 |
R4362:Ext1
|
UTSW |
15 |
53107591 |
intron |
probably benign |
|
R4550:Ext1
|
UTSW |
15 |
53101786 |
missense |
probably damaging |
0.99 |
R4647:Ext1
|
UTSW |
15 |
53089987 |
missense |
possibly damaging |
0.95 |
R4648:Ext1
|
UTSW |
15 |
53089987 |
missense |
possibly damaging |
0.95 |
R4871:Ext1
|
UTSW |
15 |
53092377 |
missense |
probably benign |
0.37 |
R4954:Ext1
|
UTSW |
15 |
53344492 |
missense |
probably damaging |
1.00 |
R5010:Ext1
|
UTSW |
15 |
53092412 |
missense |
probably damaging |
1.00 |
R5153:Ext1
|
UTSW |
15 |
53075817 |
missense |
probably damaging |
1.00 |
R5155:Ext1
|
UTSW |
15 |
53075817 |
missense |
probably damaging |
1.00 |
R5328:Ext1
|
UTSW |
15 |
53075817 |
missense |
probably damaging |
1.00 |
R5385:Ext1
|
UTSW |
15 |
53075817 |
missense |
probably damaging |
1.00 |
R5542:Ext1
|
UTSW |
15 |
53075817 |
missense |
probably damaging |
1.00 |
R5555:Ext1
|
UTSW |
15 |
53088143 |
missense |
probably damaging |
1.00 |
R5779:Ext1
|
UTSW |
15 |
53344553 |
missense |
probably damaging |
0.99 |
R5874:Ext1
|
UTSW |
15 |
53101752 |
missense |
possibly damaging |
0.61 |
R6401:Ext1
|
UTSW |
15 |
53106097 |
missense |
possibly damaging |
0.94 |
R6604:Ext1
|
UTSW |
15 |
53083159 |
missense |
probably damaging |
0.99 |
R6847:Ext1
|
UTSW |
15 |
53345154 |
missense |
probably benign |
|
R6885:Ext1
|
UTSW |
15 |
53101692 |
missense |
probably damaging |
1.00 |
R7212:Ext1
|
UTSW |
15 |
53345162 |
missense |
probably benign |
0.00 |
R7315:Ext1
|
UTSW |
15 |
53073387 |
missense |
probably damaging |
1.00 |
R7361:Ext1
|
UTSW |
15 |
53344723 |
missense |
probably damaging |
1.00 |
R7474:Ext1
|
UTSW |
15 |
53344489 |
missense |
probably damaging |
0.98 |
R7853:Ext1
|
UTSW |
15 |
53107485 |
missense |
probably damaging |
0.96 |
R7860:Ext1
|
UTSW |
15 |
53089939 |
missense |
possibly damaging |
0.84 |
R8013:Ext1
|
UTSW |
15 |
53075887 |
missense |
possibly damaging |
0.78 |
R8014:Ext1
|
UTSW |
15 |
53075887 |
missense |
possibly damaging |
0.78 |
R8725:Ext1
|
UTSW |
15 |
53344669 |
missense |
possibly damaging |
0.91 |
R8888:Ext1
|
UTSW |
15 |
53092327 |
missense |
probably damaging |
1.00 |
R9162:Ext1
|
UTSW |
15 |
53345108 |
nonsense |
probably null |
|
R9342:Ext1
|
UTSW |
15 |
53345128 |
missense |
probably benign |
|
R9587:Ext1
|
UTSW |
15 |
53092412 |
missense |
possibly damaging |
0.53 |
R9663:Ext1
|
UTSW |
15 |
53345060 |
missense |
probably damaging |
0.96 |
R9753:Ext1
|
UTSW |
15 |
53344671 |
missense |
probably damaging |
1.00 |
X0021:Ext1
|
UTSW |
15 |
53345273 |
missense |
probably benign |
|
|
Posted On |
2012-12-06 |