Incidental Mutation 'IGL00770:Osgepl1'
ID |
277882 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Osgepl1
|
Ensembl Gene |
ENSMUSG00000026096 |
Gene Name |
O-sialoglycoprotein endopeptidase-like 1 |
Synonyms |
MGC13061, 2610001M19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
IGL00770
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
53352783-53365502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53359405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 305
(I305V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137994
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027265]
[ENSMUST00000114484]
[ENSMUST00000135614]
[ENSMUST00000151296]
[ENSMUST00000190734]
|
AlphaFold |
Q6PEB4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027265
AA Change: I305V
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000027265 Gene: ENSMUSG00000026096 AA Change: I305V
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M22
|
59 |
365 |
1.1e-79 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114484
AA Change: I305V
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000110128 Gene: ENSMUSG00000026096 AA Change: I305V
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M22
|
59 |
365 |
1.1e-79 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135614
AA Change: I305V
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000137994 Gene: ENSMUSG00000026096 AA Change: I305V
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M22
|
59 |
365 |
7.6e-80 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135786
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150115
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151296
|
SMART Domains |
Protein: ENSMUSP00000137772 Gene: ENSMUSG00000026096
Domain | Start | End | E-Value | Type |
SCOP:d1huxa_
|
37 |
63 |
4e-8 |
SMART |
PDB:3ZEU|E
|
39 |
72 |
1e-5 |
PDB |
low complexity region
|
78 |
85 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153939
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190734
|
SMART Domains |
Protein: ENSMUSP00000141087 Gene: ENSMUSG00000100679
Domain | Start | End | E-Value | Type |
Pfam:ORMDL
|
11 |
123 |
4.4e-38 |
PFAM |
Pfam:Peptidase_M22
|
174 |
233 |
3.9e-14 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,306,776 (GRCm39) |
A1397T |
possibly damaging |
Het |
Aldob |
A |
G |
4: 49,536,843 (GRCm39) |
S349P |
probably benign |
Het |
Cd2 |
A |
T |
3: 101,190,345 (GRCm39) |
|
probably null |
Het |
Cmtm2a |
A |
G |
8: 105,019,562 (GRCm39) |
S43P |
probably damaging |
Het |
Cts6 |
T |
C |
13: 61,346,153 (GRCm39) |
|
probably benign |
Het |
E2f3 |
A |
T |
13: 30,102,687 (GRCm39) |
D68E |
probably damaging |
Het |
Ect2 |
G |
A |
3: 27,152,592 (GRCm39) |
R869W |
probably damaging |
Het |
Eml1 |
A |
G |
12: 108,480,774 (GRCm39) |
|
probably null |
Het |
Fundc1 |
T |
A |
X: 17,424,252 (GRCm39) |
|
probably null |
Het |
Gabrb1 |
G |
T |
5: 72,265,789 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
G |
15: 91,686,036 (GRCm39) |
|
probably benign |
Het |
Map3k2 |
C |
T |
18: 32,361,292 (GRCm39) |
P584L |
probably benign |
Het |
Mindy2 |
T |
C |
9: 70,538,315 (GRCm39) |
D340G |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,652,124 (GRCm39) |
D877G |
probably damaging |
Het |
Nol9 |
T |
C |
4: 152,136,472 (GRCm39) |
S515P |
probably benign |
Het |
Pign |
A |
G |
1: 105,525,481 (GRCm39) |
V449A |
probably benign |
Het |
Rad54b |
G |
A |
4: 11,593,765 (GRCm39) |
R131K |
probably benign |
Het |
Rgl3 |
A |
T |
9: 21,899,018 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
G |
2: 65,566,197 (GRCm39) |
D1407G |
probably damaging |
Het |
Sf3b3 |
A |
T |
8: 111,544,270 (GRCm39) |
I790N |
probably damaging |
Het |
Srebf1 |
C |
T |
11: 60,095,965 (GRCm39) |
R358Q |
probably damaging |
Het |
Tmem18 |
A |
G |
12: 30,638,720 (GRCm39) |
R133G |
unknown |
Het |
Tnfrsf11b |
T |
G |
15: 54,117,468 (GRCm39) |
R262S |
probably benign |
Het |
Tsc1 |
A |
T |
2: 28,555,023 (GRCm39) |
H171L |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
Wdcp |
A |
G |
12: 4,905,303 (GRCm39) |
E608G |
probably damaging |
Het |
|
Other mutations in Osgepl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00774:Osgepl1
|
APN |
1 |
53,359,405 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02672:Osgepl1
|
APN |
1 |
53,359,270 (GRCm39) |
missense |
probably benign |
|
IGL02932:Osgepl1
|
APN |
1 |
53,360,675 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03269:Osgepl1
|
APN |
1 |
53,360,271 (GRCm39) |
nonsense |
probably null |
|
H8562:Osgepl1
|
UTSW |
1 |
53,354,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R0100:Osgepl1
|
UTSW |
1 |
53,362,372 (GRCm39) |
missense |
probably damaging |
0.99 |
R0100:Osgepl1
|
UTSW |
1 |
53,362,372 (GRCm39) |
missense |
probably damaging |
0.99 |
R0519:Osgepl1
|
UTSW |
1 |
53,360,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R0739:Osgepl1
|
UTSW |
1 |
53,362,354 (GRCm39) |
nonsense |
probably null |
|
R1724:Osgepl1
|
UTSW |
1 |
53,357,062 (GRCm39) |
missense |
probably benign |
0.06 |
R3793:Osgepl1
|
UTSW |
1 |
53,359,406 (GRCm39) |
missense |
probably damaging |
0.97 |
R4214:Osgepl1
|
UTSW |
1 |
53,354,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R5009:Osgepl1
|
UTSW |
1 |
53,357,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R5721:Osgepl1
|
UTSW |
1 |
53,360,359 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5890:Osgepl1
|
UTSW |
1 |
53,357,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R6479:Osgepl1
|
UTSW |
1 |
53,360,702 (GRCm39) |
missense |
probably benign |
0.00 |
R7046:Osgepl1
|
UTSW |
1 |
53,360,710 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8464:Osgepl1
|
UTSW |
1 |
53,357,299 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |