Incidental Mutation 'IGL00391:Osgin2'
ID |
6707 |
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 # |
IGL00391
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
15997121-16013888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 16006439 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 85
(Y85C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121807
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037198]
[ENSMUST00000149891]
|
AlphaFold |
Q3TEE9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037198
AA Change: Y85C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047473 Gene: ENSMUSG00000041153 AA Change: Y85C
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: Y85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
A |
T |
8: 44,078,666 (GRCm39) |
F519L |
probably damaging |
Het |
Adgrl3 |
G |
A |
5: 81,872,071 (GRCm39) |
V990M |
probably damaging |
Het |
Ap4b1 |
A |
G |
3: 103,728,858 (GRCm39) |
T499A |
probably benign |
Het |
Cacna2d4 |
T |
C |
6: 119,314,894 (GRCm39) |
|
probably benign |
Het |
Ccr5 |
T |
A |
9: 123,924,443 (GRCm39) |
D15E |
possibly damaging |
Het |
Clca4b |
A |
G |
3: 144,621,322 (GRCm39) |
V584A |
possibly damaging |
Het |
Cmtr1 |
T |
C |
17: 29,893,236 (GRCm39) |
M85T |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,755,977 (GRCm39) |
H104L |
probably damaging |
Het |
Coq9 |
A |
T |
8: 95,577,145 (GRCm39) |
K170M |
probably damaging |
Het |
Elmod1 |
A |
G |
9: 53,831,682 (GRCm39) |
|
probably null |
Het |
Fam47e |
A |
C |
5: 92,727,522 (GRCm39) |
E143D |
probably damaging |
Het |
Faxc |
A |
G |
4: 21,948,725 (GRCm39) |
K146E |
probably damaging |
Het |
Myo7b |
A |
C |
18: 32,154,609 (GRCm39) |
|
probably benign |
Het |
Nmur1 |
G |
A |
1: 86,314,193 (GRCm39) |
R381C |
probably damaging |
Het |
Nsd2 |
T |
G |
5: 34,013,077 (GRCm39) |
D469E |
probably damaging |
Het |
Osbpl6 |
G |
A |
2: 76,420,783 (GRCm39) |
C786Y |
probably damaging |
Het |
Otof |
A |
G |
5: 30,532,967 (GRCm39) |
C1587R |
probably damaging |
Het |
Plaat5 |
A |
T |
19: 7,596,631 (GRCm39) |
|
probably benign |
Het |
Plekha2 |
A |
G |
8: 25,547,343 (GRCm39) |
V247A |
probably damaging |
Het |
Plppr5 |
A |
T |
3: 117,465,592 (GRCm39) |
N281I |
possibly damaging |
Het |
Popdc3 |
A |
G |
10: 45,193,922 (GRCm39) |
|
probably null |
Het |
Ppp1r12a |
A |
G |
10: 108,034,709 (GRCm39) |
N85D |
probably damaging |
Het |
Serpinb8 |
A |
G |
1: 107,534,714 (GRCm39) |
S262G |
probably benign |
Het |
Sspo |
G |
A |
6: 48,474,320 (GRCm39) |
G4780R |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,648,258 (GRCm39) |
E4621G |
probably damaging |
Het |
|
Other mutations in Osgin2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00767:Osgin2
|
APN |
4 |
16,006,377 (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 |
2012-04-20 |