Incidental Mutation 'IGL00534:Glce'
| ID |
332549 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glce
|
| Ensembl Gene |
ENSMUSG00000032252 |
| Gene Name |
glucuronyl C5-epimerase |
| Synonyms |
Hsepi, C130034A12Rik, heparan sulfate-glucuronic acid C5-epimerase, 1110017N23Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00534
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
61964526-62029891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61967765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 462
(T462M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034785]
[ENSMUST00000185675]
|
| AlphaFold |
Q9EPS3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034785
AA Change: T462M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: T462M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
|
Pfam:C5-epim_C
|
417 |
608 |
1.5e-78 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185675
AA Change: T462M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: T462M
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
|
Pfam:C5-epim_C
|
417 |
608 |
6.1e-81 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186514
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice die immediately after birth showing severe developmental defects including renal agenesis, lung abnormalities, and skeletal malformations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsj |
G |
T |
3: 126,158,594 (GRCm39) |
A58S |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,150 (GRCm39) |
S2148T |
probably benign |
Het |
| Esd |
T |
C |
14: 74,975,901 (GRCm39) |
V34A |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,351,553 (GRCm39) |
|
probably null |
Het |
| Gm382 |
A |
G |
X: 125,971,238 (GRCm39) |
Y1141C |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,479,021 (GRCm39) |
I76N |
probably damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,562 (GRCm39) |
E143G |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,958,215 (GRCm39) |
T153A |
probably damaging |
Het |
| Irs1 |
A |
G |
1: 82,266,192 (GRCm39) |
S675P |
probably benign |
Het |
| Lars1 |
A |
T |
18: 42,362,719 (GRCm39) |
H573Q |
probably damaging |
Het |
| Lman2 |
T |
C |
13: 55,499,055 (GRCm39) |
E237G |
possibly damaging |
Het |
| Map2k4 |
C |
A |
11: 65,610,305 (GRCm39) |
|
probably benign |
Het |
| Pde6b |
T |
C |
5: 108,574,437 (GRCm39) |
|
probably benign |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,958 (GRCm39) |
L136P |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,272,420 (GRCm39) |
M158K |
possibly damaging |
Het |
| Serpina3n |
A |
G |
12: 104,378,604 (GRCm39) |
E308G |
probably benign |
Het |
| Sgo2a |
T |
A |
1: 58,055,503 (GRCm39) |
N562K |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,545 (GRCm39) |
Y264C |
probably damaging |
Het |
| Snx27 |
G |
A |
3: 94,469,279 (GRCm39) |
H21Y |
probably damaging |
Het |
|
| Other mutations in Glce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02005:Glce
|
APN |
9 |
61,967,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02093:Glce
|
APN |
9 |
61,977,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02102:Glce
|
APN |
9 |
61,977,883 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02243:Glce
|
APN |
9 |
61,977,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03099:Glce
|
APN |
9 |
61,967,344 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0004:Glce
|
UTSW |
9 |
61,975,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Glce
|
UTSW |
9 |
61,968,282 (GRCm39) |
missense |
probably benign |
|
|
R1204:Glce
|
UTSW |
9 |
61,977,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1436:Glce
|
UTSW |
9 |
61,977,292 (GRCm39) |
splice site |
probably null |
|
|
R1475:Glce
|
UTSW |
9 |
61,968,210 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1622:Glce
|
UTSW |
9 |
61,977,843 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1712:Glce
|
UTSW |
9 |
61,977,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1740:Glce
|
UTSW |
9 |
61,977,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2060:Glce
|
UTSW |
9 |
61,968,228 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4424:Glce
|
UTSW |
9 |
61,967,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4893:Glce
|
UTSW |
9 |
61,975,777 (GRCm39) |
missense |
probably benign |
|
|
R5350:Glce
|
UTSW |
9 |
61,967,587 (GRCm39) |
nonsense |
probably null |
|
|
R5569:Glce
|
UTSW |
9 |
61,977,485 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5666:Glce
|
UTSW |
9 |
61,967,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Glce
|
UTSW |
9 |
61,967,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Glce
|
UTSW |
9 |
61,977,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:Glce
|
UTSW |
9 |
61,967,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7091:Glce
|
UTSW |
9 |
61,967,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Glce
|
UTSW |
9 |
61,977,716 (GRCm39) |
nonsense |
probably null |
|
|
R7549:Glce
|
UTSW |
9 |
61,968,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7854:Glce
|
UTSW |
9 |
61,977,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7965:Glce
|
UTSW |
9 |
61,968,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Glce
|
UTSW |
9 |
61,967,873 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8264:Glce
|
UTSW |
9 |
61,967,712 (GRCm39) |
missense |
probably benign |
|
|
R8743:Glce
|
UTSW |
9 |
61,968,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9048:Glce
|
UTSW |
9 |
61,967,413 (GRCm39) |
nonsense |
probably null |
|
|
X0057:Glce
|
UTSW |
9 |
61,967,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation