Incidental Mutation 'IGL00767:Osgin2'
| ID |
12880 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Osgin2
|
| Ensembl Gene |
ENSMUSG00000041153 |
| Gene Name |
oxidative stress induced growth inhibitor family member 2 |
| Synonyms |
C230027H09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
IGL00767
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
15997121-16013888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 16006377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 106
(H106Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037198]
[ENSMUST00000149891]
|
| AlphaFold |
Q3TEE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037198
AA Change: H106Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047473
Gene: ENSMUSG00000041153
AA Change: H106Y
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lqta1
|
315 |
361 |
7e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134048
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148819
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149891
AA Change: H106Y
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
A |
C |
7: 79,490,638 (GRCm39) |
S293A |
probably benign |
Het |
| Dgkh |
T |
A |
14: 78,824,701 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,215,353 (GRCm39) |
T657S |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,280,546 (GRCm39) |
I554V |
possibly damaging |
Het |
| Mindy2 |
A |
G |
9: 70,541,285 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
G |
2: 69,006,119 (GRCm39) |
T268A |
probably benign |
Het |
| Npy6r |
A |
G |
18: 44,409,385 (GRCm39) |
T269A |
probably benign |
Het |
| Nt5dc3 |
T |
A |
10: 86,656,137 (GRCm39) |
|
probably benign |
Het |
| Pdlim3 |
G |
A |
8: 46,349,827 (GRCm39) |
G46R |
probably damaging |
Het |
| Pdpk1 |
T |
G |
17: 24,325,835 (GRCm39) |
K147N |
possibly damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,493,565 (GRCm39) |
D137G |
probably damaging |
Het |
| Polg |
G |
A |
7: 79,101,673 (GRCm39) |
P1048S |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,880,432 (GRCm39) |
I97K |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,236,248 (GRCm39) |
|
probably benign |
Het |
| Serpinb10 |
G |
T |
1: 107,463,807 (GRCm39) |
V30F |
possibly damaging |
Het |
| Stk17b |
A |
G |
1: 53,803,182 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
G |
A |
8: 64,524,355 (GRCm39) |
R444C |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,576,226 (GRCm39) |
V848A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,716,017 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Osgin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Osgin2
|
APN |
4 |
16,006,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03164:Osgin2
|
APN |
4 |
16,001,938 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1115:Osgin2
|
UTSW |
4 |
15,998,085 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1515:Osgin2
|
UTSW |
4 |
15,998,380 (GRCm39) |
missense |
probably benign |
|
|
R1878:Osgin2
|
UTSW |
4 |
16,005,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1964:Osgin2
|
UTSW |
4 |
15,998,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Osgin2
|
UTSW |
4 |
16,008,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4684:Osgin2
|
UTSW |
4 |
16,001,946 (GRCm39) |
missense |
probably benign |
|
|
R4890:Osgin2
|
UTSW |
4 |
16,013,739 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5628:Osgin2
|
UTSW |
4 |
15,998,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5982:Osgin2
|
UTSW |
4 |
15,998,908 (GRCm39) |
missense |
probably benign |
|
|
R6418:Osgin2
|
UTSW |
4 |
16,006,410 (GRCm39) |
missense |
probably benign |
|
|
R7239:Osgin2
|
UTSW |
4 |
16,008,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8502:Osgin2
|
UTSW |
4 |
16,005,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9489:Osgin2
|
UTSW |
4 |
15,998,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Osgin2
|
UTSW |
4 |
15,998,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9700:Osgin2
|
UTSW |
4 |
16,006,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9789:Osgin2
|
UTSW |
4 |
15,998,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation