Incidental Mutation 'IGL03269:Osgepl1'
| ID |
415199 |
| 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: 0.172)
|
| Stock # |
IGL03269
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
53352783-53365502 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 53360271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 332
(Y332*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027265]
[ENSMUST00000114484]
[ENSMUST00000135614]
[ENSMUST00000144660]
[ENSMUST00000151296]
[ENSMUST00000190734]
|
| AlphaFold |
Q6PEB4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027265
AA Change: Y332*
|
| SMART Domains |
Protein: ENSMUSP00000027265
Gene: ENSMUSG00000026096
AA Change: Y332*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M22
|
59 |
365 |
1.1e-79 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114484
AA Change: Y332*
|
| SMART Domains |
Protein: ENSMUSP00000110128
Gene: ENSMUSG00000026096
AA Change: Y332*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M22
|
59 |
365 |
1.1e-79 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135614
AA Change: Y332*
|
| SMART Domains |
Protein: ENSMUSP00000137994
Gene: ENSMUSG00000026096
AA Change: Y332*
| 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: 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
T |
A |
2: 26,998,367 (GRCm39) |
C930* |
probably null |
Het |
| Ankar |
A |
T |
1: 72,704,360 (GRCm39) |
V854E |
probably damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,895,767 (GRCm39) |
L579Q |
probably damaging |
Het |
| Clip2 |
G |
T |
5: 134,545,748 (GRCm39) |
H314Q |
probably damaging |
Het |
| Fbxo28 |
A |
G |
1: 182,144,583 (GRCm39) |
V327A |
possibly damaging |
Het |
| Gdap1 |
T |
A |
1: 17,231,729 (GRCm39) |
F358Y |
probably benign |
Het |
| Ift70a2 |
T |
C |
2: 75,808,479 (GRCm39) |
D11G |
possibly damaging |
Het |
| Ighv1-18 |
T |
C |
12: 114,646,466 (GRCm39) |
Y46C |
probably damaging |
Het |
| Il1rl2 |
T |
A |
1: 40,404,472 (GRCm39) |
F531Y |
probably damaging |
Het |
| Irf6 |
A |
G |
1: 192,844,906 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,248,409 (GRCm39) |
T1632A |
probably damaging |
Het |
| Odad3 |
A |
G |
9: 21,909,339 (GRCm39) |
|
probably null |
Het |
| Or4l1 |
T |
A |
14: 50,166,165 (GRCm39) |
T279S |
probably damaging |
Het |
| Or5b3 |
T |
A |
19: 13,388,792 (GRCm39) |
N286K |
probably damaging |
Het |
| Or8b43 |
A |
G |
9: 38,360,197 (GRCm39) |
T10A |
probably benign |
Het |
| Pibf1 |
G |
A |
14: 99,425,171 (GRCm39) |
A553T |
probably damaging |
Het |
| Prpf38b |
A |
G |
3: 108,812,557 (GRCm39) |
F219L |
probably benign |
Het |
| Pwp1 |
C |
A |
10: 85,718,768 (GRCm39) |
Q312K |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,665,403 (GRCm39) |
V185A |
possibly damaging |
Het |
| Serpina3k |
T |
C |
12: 104,306,780 (GRCm39) |
I4T |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,178 (GRCm39) |
V145A |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,968,280 (GRCm39) |
D480G |
possibly damaging |
Het |
| Tdpoz4 |
G |
A |
3: 93,704,144 (GRCm39) |
C147Y |
probably damaging |
Het |
| Tlr4 |
C |
A |
4: 66,759,033 (GRCm39) |
P609T |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,622 (GRCm39) |
I122K |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,054,936 (GRCm39) |
K927E |
probably damaging |
Het |
| Vmn1r71 |
G |
A |
7: 10,482,571 (GRCm39) |
T39I |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,820 (GRCm39) |
L276P |
probably damaging |
Het |
| Zfp335 |
C |
A |
2: 164,742,274 (GRCm39) |
R570L |
probably damaging |
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 |
|
|
IGL02932:Osgepl1
|
APN |
1 |
53,360,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2016-08-02 |
Incidental Mutation