Incidental Mutation 'IGL02243:Glce'
| ID |
286054 |
| 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 # |
IGL02243
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
61964526-62029891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61977422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 154
(F154S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034785]
[ENSMUST00000185675]
[ENSMUST00000185873]
|
| AlphaFold |
Q9EPS3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034785
AA Change: F154S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: F154S
| 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: F154S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: F154S
| 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 benign
Transcript: ENSMUST00000185873
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc2 |
A |
G |
10: 80,138,175 (GRCm39) |
Y87C |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Brsk2 |
T |
C |
7: 141,547,036 (GRCm39) |
F493S |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,009,965 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
T |
C |
16: 38,162,142 (GRCm39) |
|
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,147,456 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ddx19a |
T |
G |
8: 111,703,088 (GRCm39) |
I450L |
probably benign |
Het |
| Edn2 |
G |
A |
4: 120,019,229 (GRCm39) |
|
probably null |
Het |
| Elp2 |
G |
A |
18: 24,755,663 (GRCm39) |
R470Q |
probably benign |
Het |
| Fhdc1 |
T |
G |
3: 84,381,947 (GRCm39) |
M1L |
possibly damaging |
Het |
| Gba2 |
A |
T |
4: 43,568,719 (GRCm39) |
I619N |
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,122,811 (GRCm38) |
C195* |
probably null |
Het |
| Hsp90aa1 |
A |
G |
12: 110,661,525 (GRCm39) |
S164P |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 32,865,962 (GRCm39) |
D127G |
probably damaging |
Het |
| Jag2 |
G |
A |
12: 112,879,965 (GRCm39) |
T381I |
possibly damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lhx2 |
T |
A |
2: 38,243,531 (GRCm39) |
|
probably benign |
Het |
| Lrrc2 |
A |
T |
9: 110,799,125 (GRCm39) |
N158I |
probably damaging |
Het |
| M1ap |
C |
T |
6: 83,003,269 (GRCm39) |
P389S |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,687,525 (GRCm39) |
D104V |
probably benign |
Het |
| Met |
G |
A |
6: 17,549,093 (GRCm39) |
V982I |
probably damaging |
Het |
| Msh2 |
T |
A |
17: 87,985,796 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
A |
G |
15: 77,651,682 (GRCm39) |
L1509P |
probably damaging |
Het |
| Mylk2 |
A |
G |
2: 152,762,473 (GRCm39) |
H554R |
probably damaging |
Het |
| Oxr1 |
T |
G |
15: 41,399,097 (GRCm39) |
|
probably benign |
Het |
| Pdp1 |
A |
T |
4: 11,961,873 (GRCm39) |
V146D |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,577 (GRCm39) |
M910L |
probably benign |
Het |
| Prl2a1 |
T |
C |
13: 27,991,400 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
C |
T |
11: 54,567,226 (GRCm39) |
P1136S |
probably damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,848,217 (GRCm39) |
S69C |
possibly damaging |
Het |
| Rnaseh1 |
C |
T |
12: 28,705,631 (GRCm39) |
R152W |
probably damaging |
Het |
| Sele |
T |
C |
1: 163,880,537 (GRCm39) |
V373A |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,070,584 (GRCm39) |
S314L |
possibly damaging |
Het |
| Traf4 |
T |
C |
11: 78,051,343 (GRCm39) |
E271G |
probably benign |
Het |
| Trim39 |
T |
C |
17: 36,571,276 (GRCm39) |
D494G |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
probably damaging |
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 |
|
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 |
|
|
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