Incidental Mutation 'IGL02093:Glce'
| ID |
279500 |
| 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 # |
IGL02093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
61964526-62029891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61977821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 21
(T21I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034785]
[ENSMUST00000185675]
[ENSMUST00000185873]
|
| AlphaFold |
Q9EPS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034785
AA Change: T21I
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: T21I
| 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 benign
Transcript: ENSMUST00000185675
AA Change: T21I
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: T21I
| 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 |
probably damaging
Transcript: ENSMUST00000185873
AA Change: T21I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
T |
A |
1: 173,160,396 (GRCm39) |
Y41F |
probably benign |
Het |
| Amigo1 |
T |
C |
3: 108,095,214 (GRCm39) |
Y238H |
probably benign |
Het |
| Ankrd17 |
A |
G |
5: 90,390,822 (GRCm39) |
S2283P |
possibly damaging |
Het |
| Apobec4 |
A |
G |
1: 152,632,119 (GRCm39) |
H49R |
possibly damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,965,360 (GRCm39) |
K34R |
probably damaging |
Het |
| Arsg |
A |
G |
11: 109,416,272 (GRCm39) |
Y173C |
possibly damaging |
Het |
| Arv1 |
C |
A |
8: 125,457,617 (GRCm39) |
L56M |
probably damaging |
Het |
| B3glct |
A |
T |
5: 149,656,150 (GRCm39) |
R194S |
probably benign |
Het |
| Ccdc39 |
T |
A |
3: 33,886,717 (GRCm39) |
Y297F |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,936,854 (GRCm39) |
E1552G |
probably damaging |
Het |
| Dnajb9 |
T |
C |
12: 44,253,987 (GRCm39) |
H140R |
probably damaging |
Het |
| Dock5 |
T |
G |
14: 68,076,992 (GRCm39) |
|
probably benign |
Het |
| Egr2 |
G |
A |
10: 67,375,854 (GRCm39) |
G92D |
probably damaging |
Het |
| Evi2a |
G |
A |
11: 79,418,490 (GRCm39) |
S40L |
probably benign |
Het |
| Fshr |
A |
G |
17: 89,309,317 (GRCm39) |
|
probably null |
Het |
| Gucy2d |
C |
A |
7: 98,092,755 (GRCm39) |
S44* |
probably null |
Het |
| Heatr5a |
T |
C |
12: 51,962,858 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,351,933 (GRCm39) |
H337Q |
probably benign |
Het |
| Jhy |
G |
T |
9: 40,856,163 (GRCm39) |
|
probably null |
Het |
| Kat5 |
A |
T |
19: 5,653,903 (GRCm39) |
M427K |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,830,380 (GRCm39) |
P1876S |
probably damaging |
Het |
| Lamc3 |
C |
A |
2: 31,777,667 (GRCm39) |
H104Q |
probably damaging |
Het |
| Lcn5 |
T |
C |
2: 25,548,462 (GRCm39) |
Y84H |
probably damaging |
Het |
| Mageb18 |
T |
A |
X: 91,163,872 (GRCm39) |
K123N |
probably damaging |
Het |
| Mfhas1 |
T |
A |
8: 36,056,498 (GRCm39) |
N324K |
probably damaging |
Het |
| Nagk |
T |
C |
6: 83,776,352 (GRCm39) |
F189S |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,610,963 (GRCm39) |
M2218K |
probably benign |
Het |
| Nuak2 |
C |
A |
1: 132,259,850 (GRCm39) |
P543T |
probably benign |
Het |
| Or2ag17 |
C |
T |
7: 106,390,030 (GRCm39) |
M59I |
probably benign |
Het |
| Or5bh3 |
C |
T |
X: 49,098,705 (GRCm39) |
M136I |
possibly damaging |
Het |
| Prl8a9 |
T |
C |
13: 27,743,436 (GRCm39) |
Y123C |
probably damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,682,867 (GRCm39) |
F220S |
probably damaging |
Het |
| Rexo4 |
T |
C |
2: 26,852,530 (GRCm39) |
D135G |
probably benign |
Het |
| Slc39a10 |
C |
T |
1: 46,874,369 (GRCm39) |
R311Q |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,923,016 (GRCm39) |
|
noncoding transcript |
Het |
| Tfrc |
A |
G |
16: 32,449,012 (GRCm39) |
E717G |
probably benign |
Het |
| Tg |
T |
A |
15: 66,564,223 (GRCm39) |
N1141K |
possibly damaging |
Het |
| Topors |
T |
C |
4: 40,261,467 (GRCm39) |
S606G |
probably damaging |
Het |
| Usp11 |
A |
G |
X: 20,585,591 (GRCm39) |
D827G |
probably benign |
Het |
| Vmn2r1 |
A |
T |
3: 64,012,130 (GRCm39) |
M664L |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,275 (GRCm39) |
M239K |
possibly damaging |
Het |
| Xiap |
T |
C |
X: 41,188,704 (GRCm39) |
|
probably benign |
Het |
| Zfp2 |
G |
A |
11: 50,791,831 (GRCm39) |
P71S |
probably benign |
Het |
| Zhx1 |
T |
A |
15: 57,916,264 (GRCm39) |
T661S |
probably benign |
Het |
|
| Other mutations in Glce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Glce
|
APN |
9 |
61,967,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Glce
|
APN |
9 |
61,967,859 (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 |
2015-04-16 |
Incidental Mutation