Incidental Mutation 'IGL01885:Ostm1'
| ID |
179115 |
| 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: 0.318)
|
| Stock # |
IGL01885
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
42554912-42578458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42574147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 280
(S280L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040718]
[ENSMUST00000105497]
[ENSMUST00000144806]
|
| AlphaFold |
Q8BGT0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040718
AA Change: S280L
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035516
Gene: ENSMUSG00000038280
AA Change: S280L
| 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 |
possibly damaging
Transcript: ENSMUST00000105497
AA Change: S125L
PolyPhen 2
Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101136
Gene: ENSMUSG00000038280
AA Change: S125L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OSTMP1
|
1 |
171 |
1.1e-67 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144806
AA Change: S125L
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116534
Gene: ENSMUSG00000038280
AA Change: S125L
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,774,575 (GRCm39) |
V568A |
possibly damaging |
Het |
| Abcb11 |
T |
A |
2: 69,117,971 (GRCm39) |
Q469L |
probably damaging |
Het |
| Ahsg |
G |
A |
16: 22,717,731 (GRCm39) |
G264E |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,697,862 (GRCm39) |
Y788C |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,911,511 (GRCm39) |
F1508I |
possibly damaging |
Het |
| Cd6 |
C |
A |
19: 10,776,601 (GRCm39) |
Q141H |
probably benign |
Het |
| Cercam |
A |
C |
2: 29,771,015 (GRCm39) |
T471P |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,337,301 (GRCm39) |
D729G |
possibly damaging |
Het |
| Dglucy |
T |
A |
12: 100,816,540 (GRCm39) |
F394Y |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,720,004 (GRCm39) |
N512S |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,356,059 (GRCm39) |
C223R |
probably damaging |
Het |
| Gcn1 |
T |
A |
5: 115,714,174 (GRCm39) |
|
probably null |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hirip3 |
T |
A |
7: 126,463,381 (GRCm39) |
S446T |
probably benign |
Het |
| Hoxa5 |
A |
T |
6: 52,179,647 (GRCm39) |
F243I |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
| Lama2 |
G |
A |
10: 26,981,135 (GRCm39) |
R1840* |
probably null |
Het |
| Lbp |
T |
A |
2: 158,166,493 (GRCm39) |
L349Q |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,331,452 (GRCm39) |
I1604T |
probably benign |
Het |
| Mapk10 |
T |
C |
5: 103,144,455 (GRCm39) |
K121E |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,578,521 (GRCm39) |
R1579* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,965,794 (GRCm39) |
D652G |
possibly damaging |
Het |
| Or10x1 |
A |
G |
1: 174,196,967 (GRCm39) |
I161M |
probably damaging |
Het |
| Or5b117 |
G |
A |
19: 13,431,449 (GRCm39) |
T144I |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,760 (GRCm39) |
I184V |
probably benign |
Het |
| Peak1 |
C |
T |
9: 56,167,388 (GRCm39) |
R180K |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,947,837 (GRCm39) |
Y515C |
probably benign |
Het |
| Postn |
T |
C |
3: 54,283,455 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
C |
T |
17: 42,814,493 (GRCm39) |
T798I |
probably damaging |
Het |
| Rnf41 |
A |
T |
10: 128,271,344 (GRCm39) |
N85Y |
probably damaging |
Het |
| Shisa7 |
A |
T |
7: 4,833,825 (GRCm39) |
H323Q |
probably damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,951,629 (GRCm39) |
M386K |
probably damaging |
Het |
| St18 |
G |
A |
1: 6,914,596 (GRCm39) |
|
probably null |
Het |
| Stra6 |
T |
A |
9: 58,048,431 (GRCm39) |
L175M |
probably damaging |
Het |
| Tmem67 |
A |
G |
4: 12,057,389 (GRCm39) |
L600P |
probably damaging |
Het |
| Try5 |
G |
T |
6: 41,288,672 (GRCm39) |
N182K |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Xpo7 |
G |
A |
14: 70,903,475 (GRCm39) |
T1078I |
probably benign |
Het |
| Zan |
G |
A |
5: 137,462,386 (GRCm39) |
T931I |
unknown |
Het |
|
| Other mutations in Ostm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03282:Ostm1
|
APN |
10 |
42,574,227 (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 |
2014-05-07 |
Incidental Mutation