Incidental Mutation 'IGL03282:Ostm1'
| ID |
415619 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ostm1
|
| Ensembl Gene |
ENSMUSG00000038280 |
| Gene Name |
osteopetrosis associated transmembrane protein 1 |
| Synonyms |
gl, 1200002H13Rik, HSPC019 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.334)
|
| Stock # |
IGL03282
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
42554912-42578458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 42574227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 152
(S152C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040718]
[ENSMUST00000105497]
[ENSMUST00000144806]
|
| AlphaFold |
Q8BGT0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040718
AA Change: S307C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035516
Gene: ENSMUSG00000038280
AA Change: S307C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
84 |
N/A |
INTRINSIC |
|
Pfam:OSTMP1
|
88 |
332 |
1.9e-87 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105497
AA Change: S152C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101136
Gene: ENSMUSG00000038280
AA Change: S152C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OSTMP1
|
1 |
171 |
1.1e-67 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144806
AA Change: S152C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116534
Gene: ENSMUSG00000038280
AA Change: S152C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OSTMP1
|
1 |
169 |
4.5e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154048
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: A model for osteopetrosis, mice homozygous for mutations of this gene display osteogenic abnormalities, including failure of tooth eruption. Mutants also have abnormal coat color as well as a reduced life span. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atl1 |
A |
G |
12: 70,001,238 (GRCm39) |
I333M |
possibly damaging |
Het |
| Atxn2 |
A |
G |
5: 121,923,298 (GRCm39) |
T52A |
probably benign |
Het |
| Atxn7 |
T |
A |
14: 14,100,564 (GRCm38) |
L750H |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,465,856 (GRCm38) |
|
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,344,261 (GRCm39) |
I264F |
possibly damaging |
Het |
| Dnah6 |
G |
T |
6: 73,030,630 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,029,641 (GRCm39) |
S1335G |
probably benign |
Het |
| Gm10073 |
A |
T |
8: 107,299,972 (GRCm39) |
V4D |
probably benign |
Het |
| Gpld1 |
T |
A |
13: 25,155,391 (GRCm39) |
M342K |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,358,741 (GRCm39) |
F2607L |
probably benign |
Het |
| Ighv2-9-1 |
T |
C |
12: 113,733,485 (GRCm39) |
Y112C |
probably damaging |
Het |
| Itga4 |
A |
T |
2: 79,155,938 (GRCm39) |
H968L |
probably damaging |
Het |
| Me1 |
C |
T |
9: 86,495,649 (GRCm39) |
R286Q |
probably damaging |
Het |
| Med1 |
G |
A |
11: 98,047,643 (GRCm39) |
T1051M |
probably damaging |
Het |
| Msh2 |
T |
G |
17: 87,996,430 (GRCm39) |
D379E |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,958,547 (GRCm39) |
M118L |
possibly damaging |
Het |
| Pla2g1b |
A |
G |
5: 115,608,939 (GRCm39) |
N45D |
probably damaging |
Het |
| Rab21 |
A |
G |
10: 115,134,803 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
G |
A |
2: 72,036,096 (GRCm39) |
|
probably benign |
Het |
| Slc38a8 |
G |
T |
8: 120,226,455 (GRCm39) |
N111K |
probably damaging |
Het |
| Snrnp35 |
A |
G |
5: 124,628,372 (GRCm39) |
T62A |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,673,992 (GRCm39) |
I540V |
probably benign |
Het |
| Tgm1 |
A |
G |
14: 55,948,527 (GRCm39) |
V208A |
probably damaging |
Het |
| Vmn1r62 |
A |
T |
7: 5,678,547 (GRCm39) |
D76V |
possibly damaging |
Het |
| Vmn1r90 |
T |
A |
7: 14,295,426 (GRCm39) |
H224L |
probably benign |
Het |
| Vmn1r90 |
A |
T |
7: 14,296,093 (GRCm39) |
S2T |
possibly damaging |
Het |
|
| Other mutations in Ostm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01885:Ostm1
|
APN |
10 |
42,574,147 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02974:Ostm1
|
APN |
10 |
42,559,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03195:Ostm1
|
APN |
10 |
42,574,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03385:Ostm1
|
APN |
10 |
42,574,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Schwer
|
UTSW |
10 |
42,555,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
steinknochel
|
UTSW |
10 |
42,559,268 (GRCm39) |
missense |
probably null |
0.96 |
|
R0069:Ostm1
|
UTSW |
10 |
42,568,952 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0111:Ostm1
|
UTSW |
10 |
42,555,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Ostm1
|
UTSW |
10 |
42,572,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Ostm1
|
UTSW |
10 |
42,574,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4433:Ostm1
|
UTSW |
10 |
42,555,119 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4731:Ostm1
|
UTSW |
10 |
42,554,975 (GRCm39) |
intron |
probably benign |
|
|
R5619:Ostm1
|
UTSW |
10 |
42,555,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7140:Ostm1
|
UTSW |
10 |
42,559,268 (GRCm39) |
missense |
probably null |
0.96 |
|
R7400:Ostm1
|
UTSW |
10 |
42,574,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7715:Ostm1
|
UTSW |
10 |
42,559,183 (GRCm39) |
missense |
probably benign |
|
|
R8336:Ostm1
|
UTSW |
10 |
42,572,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Ostm1
|
UTSW |
10 |
42,574,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
U24488:Ostm1
|
UTSW |
10 |
42,555,227 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2016-08-02 |
Incidental Mutation