Incidental Mutation 'R1204:Glce'
ID |
100344 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glce
|
Ensembl Gene |
ENSMUSG00000032252 |
Gene Name |
glucuronyl C5-epimerase |
Synonyms |
Hsepi, C130034A12Rik, heparan sulfate-glucuronic acid C5-epimerase, 1110017N23Rik |
MMRRC Submission |
039274-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1204 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
61964526-62029891 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61977849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 12
(T12A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034785]
[ENSMUST00000185675]
[ENSMUST00000185873]
|
AlphaFold |
Q9EPS3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034785
AA Change: T12A
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034785 Gene: ENSMUSG00000032252 AA Change: T12A
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 |
possibly damaging
Transcript: ENSMUST00000185675
AA Change: T12A
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139949 Gene: ENSMUSG00000032252 AA Change: T12A
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: T12A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186514
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.2%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,328,214 (GRCm39) |
I133F |
probably damaging |
Het |
Acyp1 |
A |
T |
12: 85,326,866 (GRCm39) |
|
probably null |
Het |
Ermap |
T |
C |
4: 119,046,064 (GRCm39) |
K22R |
possibly damaging |
Het |
Hao1 |
G |
A |
2: 134,364,947 (GRCm39) |
R227* |
probably null |
Het |
Hectd4 |
A |
G |
5: 121,488,548 (GRCm39) |
D3613G |
possibly damaging |
Het |
Hspa2 |
A |
G |
12: 76,451,641 (GRCm39) |
M112V |
probably benign |
Het |
Knl1 |
A |
G |
2: 118,901,670 (GRCm39) |
I1124V |
probably benign |
Het |
Lrch3 |
T |
C |
16: 32,829,584 (GRCm39) |
I738T |
probably damaging |
Het |
Mgrn1 |
T |
G |
16: 4,725,273 (GRCm39) |
F44V |
probably damaging |
Het |
Or1af1 |
A |
G |
2: 37,109,651 (GRCm39) |
Q50R |
probably benign |
Het |
Otog |
G |
A |
7: 45,909,335 (GRCm39) |
V602M |
probably benign |
Het |
Pik3r5 |
T |
G |
11: 68,385,050 (GRCm39) |
L652V |
probably benign |
Het |
Pkdrej |
G |
A |
15: 85,702,513 (GRCm39) |
T1141M |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,573,142 (GRCm39) |
|
probably benign |
Het |
Syt3 |
A |
T |
7: 44,042,091 (GRCm39) |
I317F |
probably damaging |
Het |
Tmem214 |
C |
T |
5: 31,033,134 (GRCm39) |
A509V |
probably damaging |
Het |
Tmem25 |
T |
C |
9: 44,706,529 (GRCm39) |
E284G |
probably benign |
Het |
Trim9 |
T |
C |
12: 70,393,501 (GRCm39) |
N148D |
probably damaging |
Het |
Vmn2r107 |
A |
G |
17: 20,578,031 (GRCm39) |
R447G |
probably benign |
Het |
Zfp964 |
A |
T |
8: 70,116,668 (GRCm39) |
I423L |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCTCGGACTTCCACATTGTAGCC -3'
(R):5'- TGTGCTGAGCAGTTTGCCTCTTATC -3'
Sequencing Primer
(F):5'- ATCGATCATAGCCGTCATACTGG -3'
(R):5'- CTTCACCTATGCTGAAAAGTTTGAG -3'
|
Posted On |
2014-01-15 |