Incidental Mutation 'IGL01554:Ext2'
| ID |
90672 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ext2
|
| Ensembl Gene |
ENSMUSG00000027198 |
| Gene Name |
exostosin glycosyltransferase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
93525978-93652913 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 93642294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 192
(L192V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122144
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028623]
[ENSMUST00000111248]
[ENSMUST00000125407]
[ENSMUST00000145838]
[ENSMUST00000184931]
|
| AlphaFold |
P70428 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028623
AA Change: L192V
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028623
Gene: ENSMUSG00000027198
AA Change: L192V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
Pfam:Exostosin
|
100 |
380 |
2.4e-59 |
PFAM |
|
Pfam:Glyco_transf_64
|
456 |
701 |
1.1e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111248
|
| SMART Domains |
Protein: ENSMUSP00000106879
Gene: ENSMUSG00000027198
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125027
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125407
AA Change: L192V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120291
Gene: ENSMUSG00000027198
AA Change: L192V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
Pfam:Exostosin
|
100 |
380 |
8.8e-59 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145838
AA Change: L192V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122144
Gene: ENSMUSG00000027198
AA Change: L192V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
Pfam:Exostosin
|
100 |
213 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157046
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184931
AA Change: L192V
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138956
Gene: ENSMUSG00000027198
AA Change: L192V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
Pfam:Exostosin
|
100 |
380 |
1.4e-57 |
PFAM |
|
Pfam:Glyco_transf_64
|
456 |
559 |
9.5e-31 |
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 gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos lack heparan sulfate, initiate primitive streak formation but fail to form mesoderm, become growth arrested and die around gastrulation. Heterozygotes show various abnormalities in cartilage differentiation; about one-third form one or more exostoses on the ribs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,932,992 (GRCm39) |
I1211V |
probably benign |
Het |
| Adgre4 |
A |
G |
17: 56,124,090 (GRCm39) |
S497G |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,601 (GRCm39) |
M65T |
possibly damaging |
Het |
| Entrep3 |
A |
G |
3: 89,092,888 (GRCm39) |
T257A |
probably damaging |
Het |
| Ermard |
A |
G |
17: 15,271,855 (GRCm39) |
D338G |
possibly damaging |
Het |
| Espl1 |
T |
C |
15: 102,221,660 (GRCm39) |
L983P |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,409,403 (GRCm39) |
Y241F |
probably benign |
Het |
| Fbxl12 |
G |
A |
9: 20,550,215 (GRCm39) |
P170S |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,807,622 (GRCm39) |
P1314T |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,522,144 (GRCm39) |
R747G |
probably benign |
Het |
| Hspa1a |
G |
T |
17: 35,189,500 (GRCm39) |
P468T |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,356,976 (GRCm39) |
C1028R |
probably damaging |
Het |
| Lcn8 |
C |
T |
2: 25,544,198 (GRCm39) |
A40V |
possibly damaging |
Het |
| Lmbrd2 |
A |
G |
15: 9,165,906 (GRCm39) |
Y260C |
possibly damaging |
Het |
| Mex3d |
G |
T |
10: 80,217,869 (GRCm39) |
N449K |
possibly damaging |
Het |
| Mgat4f |
A |
G |
1: 134,317,696 (GRCm39) |
N156S |
probably damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,823 (GRCm39) |
K438E |
possibly damaging |
Het |
| Nudt7 |
A |
G |
8: 114,874,625 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
C |
A |
2: 31,941,084 (GRCm39) |
S39* |
probably null |
Het |
| Opn5 |
A |
G |
17: 42,918,089 (GRCm39) |
S58P |
probably damaging |
Het |
| Or6c74 |
T |
C |
10: 129,870,052 (GRCm39) |
S186P |
probably damaging |
Het |
| Or7e173 |
T |
C |
9: 19,938,704 (GRCm39) |
I177V |
possibly damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,426 (GRCm39) |
N750K |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,502 (GRCm39) |
N1055D |
probably damaging |
Het |
| Phf2 |
T |
A |
13: 48,959,355 (GRCm39) |
K884* |
probably null |
Het |
| Prkdc |
A |
G |
16: 15,470,166 (GRCm39) |
N191S |
probably benign |
Het |
| Prpf8 |
A |
T |
11: 75,386,472 (GRCm39) |
Q987L |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,538,355 (GRCm39) |
P425L |
probably damaging |
Het |
| Rab36 |
T |
C |
10: 74,886,520 (GRCm39) |
I166T |
possibly damaging |
Het |
| Rab3gap1 |
G |
T |
1: 127,855,745 (GRCm39) |
L461F |
possibly damaging |
Het |
| Rnls |
A |
T |
19: 33,368,499 (GRCm39) |
Y27N |
possibly damaging |
Het |
| Sncaip |
A |
T |
18: 53,002,006 (GRCm39) |
I176F |
possibly damaging |
Het |
| Tagap |
G |
A |
17: 8,151,780 (GRCm39) |
G322S |
probably benign |
Het |
| Tas2r130 |
C |
T |
6: 131,607,046 (GRCm39) |
A250T |
probably benign |
Het |
| Tgs1 |
A |
G |
4: 3,593,632 (GRCm39) |
S507G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,706,056 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,737,548 (GRCm39) |
K246E |
possibly damaging |
Het |
|
| Other mutations in Ext2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01132:Ext2
|
APN |
2 |
93,621,418 (GRCm39) |
missense |
probably benign |
|
|
IGL01768:Ext2
|
APN |
2 |
93,621,455 (GRCm39) |
splice site |
probably benign |
|
|
IGL02160:Ext2
|
APN |
2 |
93,643,929 (GRCm39) |
missense |
probably benign |
|
|
IGL02677:Ext2
|
APN |
2 |
93,537,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Ext2
|
APN |
2 |
93,534,964 (GRCm39) |
splice site |
probably null |
|
|
IGL03013:Ext2
|
APN |
2 |
93,537,571 (GRCm39) |
intron |
probably benign |
|
|
IGL03286:Ext2
|
APN |
2 |
93,537,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0018:Ext2
|
UTSW |
2 |
93,626,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0526:Ext2
|
UTSW |
2 |
93,636,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0580:Ext2
|
UTSW |
2 |
93,626,070 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1383:Ext2
|
UTSW |
2 |
93,636,458 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1538:Ext2
|
UTSW |
2 |
93,537,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Ext2
|
UTSW |
2 |
93,560,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1792:Ext2
|
UTSW |
2 |
93,534,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2874:Ext2
|
UTSW |
2 |
93,570,031 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3122:Ext2
|
UTSW |
2 |
93,644,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Ext2
|
UTSW |
2 |
93,533,545 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4653:Ext2
|
UTSW |
2 |
93,526,504 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4826:Ext2
|
UTSW |
2 |
93,592,975 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4828:Ext2
|
UTSW |
2 |
93,626,112 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4936:Ext2
|
UTSW |
2 |
93,644,024 (GRCm39) |
nonsense |
probably null |
|
|
R5311:Ext2
|
UTSW |
2 |
93,526,606 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5799:Ext2
|
UTSW |
2 |
93,642,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5850:Ext2
|
UTSW |
2 |
93,644,004 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6230:Ext2
|
UTSW |
2 |
93,592,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Ext2
|
UTSW |
2 |
93,636,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7047:Ext2
|
UTSW |
2 |
93,570,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7173:Ext2
|
UTSW |
2 |
93,643,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Ext2
|
UTSW |
2 |
93,560,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7530:Ext2
|
UTSW |
2 |
93,491,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7545:Ext2
|
UTSW |
2 |
93,644,108 (GRCm39) |
missense |
probably benign |
|
|
R7939:Ext2
|
UTSW |
2 |
93,560,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8160:Ext2
|
UTSW |
2 |
93,644,107 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9072:Ext2
|
UTSW |
2 |
93,644,144 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9245:Ext2
|
UTSW |
2 |
93,534,836 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9338:Ext2
|
UTSW |
2 |
93,526,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Ext2
|
UTSW |
2 |
93,592,999 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9487:Ext2
|
UTSW |
2 |
93,592,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ext2
|
UTSW |
2 |
93,533,620 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation