Incidental Mutation 'R6215:Osgin1'
| ID |
503663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Osgin1
|
| Ensembl Gene |
ENSMUSG00000074063 |
| Gene Name |
oxidative stress induced growth inhibitor 1 |
| Synonyms |
1700012B18Rik |
| MMRRC Submission |
044348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120160874-120172996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120172183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 326
(V326I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098363]
[ENSMUST00000098365]
[ENSMUST00000131448]
[ENSMUST00000152420]
[ENSMUST00000212112]
|
| AlphaFold |
Q8VC10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098363
|
| SMART Domains |
Protein: ENSMUSP00000095966
Gene: ENSMUSG00000031837
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
EFh
|
67 |
95 |
4.06e-2 |
SMART |
|
EFh
|
101 |
129 |
3.21e0 |
SMART |
|
low complexity region
|
185 |
196 |
N/A |
INTRINSIC |
|
Pfam:ABM
|
289 |
363 |
2.1e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131448
|
| SMART Domains |
Protein: ENSMUSP00000120477
Gene: ENSMUSG00000074063
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1foha5
|
12 |
38 |
9e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144381
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145604
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152420
AA Change: V326I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000114467
Gene: ENSMUSG00000074063
AA Change: V326I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyr_redox_2
|
205 |
465 |
3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212112
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (42/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,727,713 (GRCm39) |
W309* |
probably null |
Het |
| Aox1 |
G |
A |
1: 58,124,620 (GRCm39) |
V954I |
probably benign |
Het |
| Asnsd1 |
A |
C |
1: 53,387,187 (GRCm39) |
|
probably null |
Het |
| Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,899,664 (GRCm39) |
V339A |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
| Cemip2 |
C |
A |
19: 21,789,751 (GRCm39) |
N650K |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,247,380 (GRCm39) |
L981P |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
| Dhx9 |
G |
A |
1: 153,348,209 (GRCm39) |
P336S |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
| Efnb3 |
C |
A |
11: 69,447,591 (GRCm39) |
V181L |
probably benign |
Het |
| Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
| Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
| Gm10719 |
T |
A |
9: 3,019,040 (GRCm39) |
|
probably null |
Homo |
| Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Kcnj13 |
A |
G |
1: 87,314,256 (GRCm39) |
V322A |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
| Npc1 |
ACAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAG |
18: 12,369,249 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
| Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
| Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
| Peg10 |
GC |
GCCCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5a |
T |
A |
1: 191,094,447 (GRCm39) |
Q191L |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
| Sh3glb2 |
T |
C |
2: 30,235,805 (GRCm39) |
E313G |
possibly damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,126,946 (GRCm39) |
K2021N |
probably benign |
Het |
| Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
probably benign |
Het |
|
| Other mutations in Osgin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Osgin1
|
APN |
8 |
120,171,785 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02347:Osgin1
|
APN |
8 |
120,172,277 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02803:Osgin1
|
APN |
8 |
120,170,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03111:Osgin1
|
APN |
8 |
120,169,788 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0137:Osgin1
|
UTSW |
8 |
120,169,219 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0265:Osgin1
|
UTSW |
8 |
120,172,396 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0520:Osgin1
|
UTSW |
8 |
120,169,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Osgin1
|
UTSW |
8 |
120,172,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Osgin1
|
UTSW |
8 |
120,172,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0687:Osgin1
|
UTSW |
8 |
120,172,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Osgin1
|
UTSW |
8 |
120,169,852 (GRCm39) |
splice site |
probably null |
|
|
R1469:Osgin1
|
UTSW |
8 |
120,172,124 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1469:Osgin1
|
UTSW |
8 |
120,172,124 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1470:Osgin1
|
UTSW |
8 |
120,171,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Osgin1
|
UTSW |
8 |
120,171,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Osgin1
|
UTSW |
8 |
120,172,412 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2982:Osgin1
|
UTSW |
8 |
120,169,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3880:Osgin1
|
UTSW |
8 |
120,168,191 (GRCm39) |
missense |
probably benign |
|
|
R4076:Osgin1
|
UTSW |
8 |
120,171,772 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4594:Osgin1
|
UTSW |
8 |
120,171,992 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4914:Osgin1
|
UTSW |
8 |
120,169,283 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4991:Osgin1
|
UTSW |
8 |
120,172,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Osgin1
|
UTSW |
8 |
120,171,728 (GRCm39) |
makesense |
probably null |
|
|
R7008:Osgin1
|
UTSW |
8 |
120,168,233 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7136:Osgin1
|
UTSW |
8 |
120,168,176 (GRCm39) |
start codon destroyed |
probably null |
0.51 |
|
R7380:Osgin1
|
UTSW |
8 |
120,172,170 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7840:Osgin1
|
UTSW |
8 |
120,171,773 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9674:Osgin1
|
UTSW |
8 |
120,172,499 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9689:Osgin1
|
UTSW |
8 |
120,172,247 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGAATGGCTACTTGACTACC -3'
(R):5'- CAATGAGGACCAGCACCATG -3'
Sequencing Primer
(F):5'- TTTGACAGCCCAGCCATG -3'
(R):5'- GAGACCCCAAAGAGCTGCTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation