Incidental Mutation 'IGL00954:Osgep'
ID |
28967 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Osgep
|
Ensembl Gene |
ENSMUSG00000006289 |
Gene Name |
O-sialoglycoprotein endopeptidase |
Synonyms |
PRSMG1, 1500019L24Rik, GCPL-1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
IGL00954
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
51152831-51162350 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51153619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 320
(I320F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125155
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006452]
[ENSMUST00000159292]
[ENSMUST00000160375]
[ENSMUST00000160393]
[ENSMUST00000162177]
[ENSMUST00000160890]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006452
|
SMART Domains |
Protein: ENSMUSP00000006452 Gene: ENSMUSG00000006289
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M22
|
23 |
186 |
1.1e-55 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157760
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159292
AA Change: I320F
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000124039 Gene: ENSMUSG00000006289 AA Change: I320F
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M22
|
23 |
301 |
3.6e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160375
|
SMART Domains |
Protein: ENSMUSP00000124099 Gene: ENSMUSG00000006289
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M22
|
1 |
156 |
1.3e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160393
AA Change: I320F
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000125155 Gene: ENSMUSG00000006289 AA Change: I320F
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M22
|
23 |
301 |
3.6e-90 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160464
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162177
AA Change: I239F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000124016 Gene: ENSMUSG00000006289 AA Change: I239F
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M22
|
1 |
220 |
1.1e-68 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162850
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160890
|
SMART Domains |
Protein: ENSMUSP00000124659 Gene: ENSMUSG00000006289
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M22
|
23 |
79 |
1.7e-14 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
C |
T |
18: 61,972,756 (GRCm39) |
|
probably benign |
Het |
Alox5 |
A |
T |
6: 116,431,260 (GRCm39) |
V56D |
probably damaging |
Het |
Atp1a2 |
A |
G |
1: 172,118,201 (GRCm39) |
S158P |
probably damaging |
Het |
B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
BC049715 |
A |
T |
6: 136,817,093 (GRCm39) |
E111V |
possibly damaging |
Het |
Casp8ap2 |
C |
A |
4: 32,645,403 (GRCm39) |
T1492K |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,861,939 (GRCm39) |
E612G |
probably damaging |
Het |
Cttnbp2 |
C |
A |
6: 18,381,061 (GRCm39) |
K868N |
possibly damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,494,114 (GRCm39) |
N672I |
probably damaging |
Het |
Ei24 |
A |
T |
9: 36,701,166 (GRCm39) |
I51N |
probably damaging |
Het |
Gdi2 |
T |
C |
13: 3,606,467 (GRCm39) |
V181A |
probably benign |
Het |
Ggt1 |
G |
A |
10: 75,420,697 (GRCm39) |
R354Q |
probably benign |
Het |
Hao1 |
A |
G |
2: 134,340,181 (GRCm39) |
I370T |
possibly damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Jag2 |
G |
T |
12: 112,884,026 (GRCm39) |
S184R |
possibly damaging |
Het |
Kctd16 |
A |
G |
18: 40,391,853 (GRCm39) |
D147G |
probably benign |
Het |
Kiss1r |
T |
C |
10: 79,757,834 (GRCm39) |
L396P |
probably damaging |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Lrrc66 |
G |
T |
5: 73,765,741 (GRCm39) |
T434K |
possibly damaging |
Het |
Macroh2a1 |
A |
G |
13: 56,222,132 (GRCm39) |
S340P |
possibly damaging |
Het |
Mcm5 |
A |
T |
8: 75,836,740 (GRCm39) |
N64Y |
possibly damaging |
Het |
Mroh2b |
A |
T |
15: 4,932,536 (GRCm39) |
Y54F |
probably damaging |
Het |
Or10al6 |
T |
A |
17: 38,083,505 (GRCm39) |
N329K |
probably benign |
Het |
Or7g18 |
T |
A |
9: 18,787,369 (GRCm39) |
S249T |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,710,838 (GRCm39) |
D159V |
probably damaging |
Het |
Phf20l1 |
G |
A |
15: 66,513,757 (GRCm39) |
V978I |
probably damaging |
Het |
Phospho1 |
T |
A |
11: 95,721,909 (GRCm39) |
V193E |
probably damaging |
Het |
Pip4k2b |
T |
C |
11: 97,635,331 (GRCm39) |
K34E |
probably damaging |
Het |
Plb1 |
T |
C |
5: 32,455,858 (GRCm39) |
|
probably benign |
Het |
Safb2 |
A |
G |
17: 56,885,639 (GRCm39) |
|
probably null |
Het |
Sgsh |
T |
A |
11: 119,237,311 (GRCm39) |
E434D |
probably benign |
Het |
Tkt |
C |
T |
14: 30,291,052 (GRCm39) |
H355Y |
probably damaging |
Het |
Tmem128 |
A |
G |
5: 38,419,389 (GRCm39) |
N47S |
probably damaging |
Het |
Tmem232 |
A |
G |
17: 65,807,148 (GRCm39) |
I15T |
probably damaging |
Het |
Tns1 |
A |
C |
1: 73,964,128 (GRCm39) |
V1501G |
probably damaging |
Het |
Vmn2r24 |
G |
A |
6: 123,792,596 (GRCm39) |
C641Y |
probably damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,449,975 (GRCm39) |
T74A |
probably benign |
Het |
Zfp820 |
T |
C |
17: 22,038,860 (GRCm39) |
Y156C |
probably damaging |
Het |
|
Other mutations in Osgep |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02366:Osgep
|
APN |
14 |
51,157,407 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02800:Osgep
|
APN |
14 |
51,153,314 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03258:Osgep
|
APN |
14 |
51,155,346 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3104:Osgep
|
UTSW |
14 |
51,154,286 (GRCm39) |
missense |
probably benign |
0.03 |
R3105:Osgep
|
UTSW |
14 |
51,154,286 (GRCm39) |
missense |
probably benign |
0.03 |
R3106:Osgep
|
UTSW |
14 |
51,154,286 (GRCm39) |
missense |
probably benign |
0.03 |
R3899:Osgep
|
UTSW |
14 |
51,162,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Osgep
|
UTSW |
14 |
51,155,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R5152:Osgep
|
UTSW |
14 |
51,155,315 (GRCm39) |
missense |
probably damaging |
0.99 |
R6169:Osgep
|
UTSW |
14 |
51,157,209 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7009:Osgep
|
UTSW |
14 |
51,162,165 (GRCm39) |
missense |
probably damaging |
0.98 |
R7873:Osgep
|
UTSW |
14 |
51,153,347 (GRCm39) |
missense |
probably damaging |
0.99 |
R8054:Osgep
|
UTSW |
14 |
51,162,128 (GRCm39) |
unclassified |
probably benign |
|
R8477:Osgep
|
UTSW |
14 |
51,155,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R9537:Osgep
|
UTSW |
14 |
51,162,119 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-04-17 |