Incidental Mutation 'IGL01896:Mepe'
| ID |
179405 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mepe
|
| Ensembl Gene |
ENSMUSG00000053863 |
| Gene Name |
matrix extracellular phosphoglycoprotein with ASARM motif (bone) |
| Synonyms |
OF45 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL01896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
104473195-104486477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104486135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 425
(D425G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066207]
|
| AlphaFold |
Q8K4L6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066207
AA Change: D425G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000065200
Gene: ENSMUSG00000053863
AA Change: D425G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Osteoregulin
|
29 |
192 |
4.2e-76 |
PFAM |
|
low complexity region
|
257 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
438 |
N/A |
INTRINSIC |
|
| 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 secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components of the extracellular matrix of bone and dentin and regulate bone mineralization. Deficiency of a similar protein in mouse results in increased bone mass. Mice lacking this gene are resistant to aging-related trabecular bone loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have increased amounts of trabecular bone in their skeleton and undergo less age related bone loss. Otherwise, they display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,101,154 (GRCm39) |
F509Y |
possibly damaging |
Het |
| Acot11 |
T |
A |
4: 106,628,564 (GRCm39) |
I75F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,113,578 (GRCm39) |
N427Y |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,522 (GRCm39) |
D89G |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,721,438 (GRCm39) |
T378S |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,615,959 (GRCm39) |
C436S |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,186,634 (GRCm39) |
V429M |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 66,021,492 (GRCm39) |
D311E |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,267,752 (GRCm39) |
K396R |
possibly damaging |
Het |
| Eif4b |
T |
C |
15: 102,003,721 (GRCm39) |
S597P |
probably benign |
Het |
| Ezh1 |
A |
T |
11: 101,104,581 (GRCm39) |
N155K |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,041,862 (GRCm39) |
S157G |
probably benign |
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 |
| Gm5600 |
T |
C |
7: 113,307,221 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
A |
3: 3,716,470 (GRCm39) |
V298E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,118,268 (GRCm39) |
R446Q |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,162 (GRCm39) |
I611V |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,921,360 (GRCm39) |
E524G |
probably benign |
Het |
| Myo1a |
G |
T |
10: 127,555,773 (GRCm39) |
V921L |
probably benign |
Het |
| Plxdc1 |
A |
T |
11: 97,815,408 (GRCm39) |
M470K |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,858,758 (GRCm39) |
Y222C |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,649,389 (GRCm39) |
N264S |
possibly damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,752,500 (GRCm39) |
D441G |
probably benign |
Het |
| Samd9l |
G |
T |
6: 3,375,120 (GRCm39) |
Q714K |
probably benign |
Het |
| Scrib |
T |
C |
15: 75,937,967 (GRCm39) |
E293G |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,029,380 (GRCm39) |
N255K |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,703,050 (GRCm39) |
I141T |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,145,370 (GRCm39) |
L485P |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,522 (GRCm39) |
Y706N |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,802,444 (GRCm39) |
F583L |
possibly damaging |
Het |
| Tmprss15 |
A |
G |
16: 78,887,678 (GRCm39) |
V43A |
probably benign |
Het |
| Ttc24 |
T |
C |
3: 87,977,720 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
A |
G |
17: 87,666,552 (GRCm39) |
T606A |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,202,362 (GRCm39) |
P689T |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wfdc8 |
A |
T |
2: 164,447,700 (GRCm39) |
M120K |
probably damaging |
Het |
|
| Other mutations in Mepe |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Mepe
|
APN |
5 |
104,485,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01997:Mepe
|
APN |
5 |
104,485,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02311:Mepe
|
APN |
5 |
104,485,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02586:Mepe
|
APN |
5 |
104,485,316 (GRCm39) |
missense |
probably benign |
0.39 |
|
F6893:Mepe
|
UTSW |
5 |
104,485,242 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1187:Mepe
|
UTSW |
5 |
104,486,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1218:Mepe
|
UTSW |
5 |
104,474,939 (GRCm39) |
missense |
probably benign |
|
|
R1633:Mepe
|
UTSW |
5 |
104,485,540 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2024:Mepe
|
UTSW |
5 |
104,474,957 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2026:Mepe
|
UTSW |
5 |
104,474,957 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2027:Mepe
|
UTSW |
5 |
104,474,957 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2393:Mepe
|
UTSW |
5 |
104,485,327 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2920:Mepe
|
UTSW |
5 |
104,486,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3040:Mepe
|
UTSW |
5 |
104,485,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3716:Mepe
|
UTSW |
5 |
104,485,294 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3973:Mepe
|
UTSW |
5 |
104,484,944 (GRCm39) |
missense |
probably benign |
|
|
R3976:Mepe
|
UTSW |
5 |
104,484,944 (GRCm39) |
missense |
probably benign |
|
|
R4894:Mepe
|
UTSW |
5 |
104,473,268 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5556:Mepe
|
UTSW |
5 |
104,486,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6256:Mepe
|
UTSW |
5 |
104,484,940 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6788:Mepe
|
UTSW |
5 |
104,486,074 (GRCm39) |
nonsense |
probably null |
|
|
R7361:Mepe
|
UTSW |
5 |
104,485,009 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8431:Mepe
|
UTSW |
5 |
104,486,047 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8679:Mepe
|
UTSW |
5 |
104,485,754 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8745:Mepe
|
UTSW |
5 |
104,485,525 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8817:Mepe
|
UTSW |
5 |
104,485,151 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Posted On |
2014-05-07 |
Incidental Mutation