Incidental Mutation 'IGL03385:Ostm1'
| ID |
420834 |
| 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 # |
IGL03385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
42554912-42578458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 42574140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 123
(N123H)
|
| 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: N278H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035516
Gene: ENSMUSG00000038280
AA Change: N278H
| 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: N123H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101136
Gene: ENSMUSG00000038280
AA Change: N123H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OSTMP1
|
1 |
171 |
1.1e-67 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144806
AA Change: N123H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116534
Gene: ENSMUSG00000038280
AA Change: N123H
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs9 |
A |
G |
9: 22,555,044 (GRCm39) |
T444A |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 109,993,516 (GRCm39) |
T324A |
possibly damaging |
Het |
| Col14a1 |
C |
A |
15: 55,273,600 (GRCm39) |
T723K |
unknown |
Het |
| Col14a1 |
G |
A |
15: 55,335,104 (GRCm39) |
G1513S |
unknown |
Het |
| Col1a2 |
C |
A |
6: 4,539,612 (GRCm39) |
N1293K |
unknown |
Het |
| Ctdp1 |
T |
C |
18: 80,493,133 (GRCm39) |
D454G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,216,254 (GRCm39) |
V94A |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,629 (GRCm39) |
S590G |
probably benign |
Het |
| Gon4l |
A |
T |
3: 88,814,850 (GRCm39) |
T1940S |
probably benign |
Het |
| Itk |
G |
A |
11: 46,222,688 (GRCm39) |
Q594* |
probably null |
Het |
| Kcnc2 |
G |
A |
10: 112,291,691 (GRCm39) |
C293Y |
probably damaging |
Het |
| Krit1 |
A |
G |
5: 3,857,452 (GRCm39) |
I86V |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,831,565 (GRCm39) |
L1663* |
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,855,952 (GRCm39) |
T546A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,122,630 (GRCm39) |
Q717K |
probably benign |
Het |
| Or2a51 |
T |
C |
6: 43,178,914 (GRCm39) |
V112A |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,326,657 (GRCm39) |
V190A |
probably benign |
Het |
| Pcdh10 |
A |
C |
3: 45,335,947 (GRCm39) |
S754R |
possibly damaging |
Het |
| Pomt2 |
A |
T |
12: 87,163,330 (GRCm39) |
L613Q |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,208 (GRCm39) |
N351I |
probably damaging |
Het |
| Serpinb9 |
T |
C |
13: 33,191,979 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
T |
A |
8: 106,677,496 (GRCm39) |
|
probably benign |
Het |
| Smgc |
T |
A |
15: 91,726,181 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,739 (GRCm39) |
V197A |
possibly damaging |
Het |
| Ttc4 |
A |
G |
4: 106,525,397 (GRCm39) |
S246P |
probably benign |
Het |
| Tti1 |
G |
A |
2: 157,834,945 (GRCm39) |
A1005V |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,338,824 (GRCm39) |
I63F |
probably 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 |
|
IGL03282:Ostm1
|
APN |
10 |
42,574,227 (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