Incidental Mutation 'IGL02932:Osgepl1'
| ID |
364133 |
| 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 # |
IGL02932
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
53352783-53365502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53360675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 372
(R372H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027265]
[ENSMUST00000114484]
[ENSMUST00000135614]
[ENSMUST00000144660]
[ENSMUST00000151296]
[ENSMUST00000190734]
|
| AlphaFold |
Q6PEB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027265
AA Change: R372H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000027265
Gene: ENSMUSG00000026096
AA Change: R372H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M22
|
59 |
365 |
1.1e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114484
AA Change: R372H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000110128
Gene: ENSMUSG00000026096
AA Change: R372H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M22
|
59 |
365 |
1.1e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135614
|
| SMART Domains |
Protein: ENSMUSP00000137994
Gene: ENSMUSG00000026096
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M22
|
59 |
365 |
7.6e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135786
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144660
|
| SMART Domains |
Protein: ENSMUSP00000139404
Gene: ENSMUSG00000099913
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_7
|
59 |
162 |
1.4e-8 |
PFAM |
|
Pfam:Asn_synthase
|
304 |
565 |
5.6e-56 |
PFAM |
|
| 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: ENSMUST00000186588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188688
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap42 |
T |
A |
9: 9,115,709 (GRCm39) |
E122D |
probably damaging |
Het |
| Asb3 |
G |
A |
11: 30,979,067 (GRCm39) |
|
probably null |
Het |
| Avl9 |
T |
C |
6: 56,713,536 (GRCm39) |
S265P |
probably benign |
Het |
| Cep44 |
C |
T |
8: 57,000,459 (GRCm39) |
R18Q |
probably damaging |
Het |
| Clec10a |
T |
C |
11: 70,060,554 (GRCm39) |
|
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,579,065 (GRCm39) |
I115V |
probably benign |
Het |
| Coq3 |
C |
T |
4: 21,900,430 (GRCm39) |
A219V |
probably benign |
Het |
| Cry2 |
G |
A |
2: 92,243,462 (GRCm39) |
R460* |
probably null |
Het |
| Ddx39b |
A |
G |
17: 35,472,337 (GRCm39) |
|
probably benign |
Het |
| Dhx40 |
G |
A |
11: 86,662,755 (GRCm39) |
R646C |
probably damaging |
Het |
| Ears2 |
G |
A |
7: 121,662,284 (GRCm39) |
R55C |
probably damaging |
Het |
| Eif3m |
C |
T |
2: 104,845,214 (GRCm39) |
G26R |
probably damaging |
Het |
| Exo5 |
A |
G |
4: 120,779,742 (GRCm39) |
L41P |
probably benign |
Het |
| Fut10 |
A |
G |
8: 31,749,965 (GRCm39) |
H417R |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,037,929 (GRCm39) |
L296Q |
probably damaging |
Het |
| Gpr143 |
A |
T |
X: 151,576,439 (GRCm39) |
|
probably benign |
Het |
| Htr1b |
C |
A |
9: 81,513,689 (GRCm39) |
R306L |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,661,858 (GRCm39) |
A2185T |
probably damaging |
Het |
| Mbd5 |
C |
A |
2: 49,169,460 (GRCm39) |
Q1544K |
possibly damaging |
Het |
| Mccc1 |
T |
C |
3: 36,014,178 (GRCm39) |
E713G |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 137,817,505 (GRCm39) |
F415S |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
| Mup6 |
A |
C |
4: 60,006,009 (GRCm39) |
D159A |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,037,472 (GRCm39) |
L698P |
probably damaging |
Het |
| Or2w6 |
A |
T |
13: 21,843,001 (GRCm39) |
M164K |
probably damaging |
Het |
| Or4p22 |
G |
T |
2: 88,317,519 (GRCm39) |
V148F |
probably benign |
Het |
| Or5p70 |
A |
G |
7: 107,994,720 (GRCm39) |
N131S |
probably benign |
Het |
| Or6c217 |
A |
T |
10: 129,738,287 (GRCm39) |
C97* |
probably null |
Het |
| Pias2 |
C |
T |
18: 77,232,799 (GRCm39) |
H537Y |
probably damaging |
Het |
| Slc38a7 |
A |
C |
8: 96,572,783 (GRCm39) |
I149M |
probably damaging |
Het |
| Smn1 |
A |
G |
13: 100,264,472 (GRCm39) |
T68A |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,707,231 (GRCm39) |
K657R |
possibly damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,098,190 (GRCm39) |
H625Q |
possibly damaging |
Het |
| Tead3 |
T |
C |
17: 28,560,325 (GRCm39) |
Y2C |
probably damaging |
Het |
| Tmem255a |
T |
A |
X: 37,296,940 (GRCm39) |
T280S |
probably benign |
Het |
| Ttpa |
A |
G |
4: 20,021,215 (GRCm39) |
T128A |
possibly damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,509,591 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Osgepl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:Osgepl1
|
APN |
1 |
53,359,405 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL00774:Osgepl1
|
APN |
1 |
53,359,405 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02672:Osgepl1
|
APN |
1 |
53,359,270 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-12-18 |
Incidental Mutation