Incidental Mutation 'IGL01997:Mepe'
ID |
182125 |
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 # |
IGL01997
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
104473195-104486477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 104485466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 202
(P202L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066207]
|
AlphaFold |
Q8K4L6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066207
AA Change: P202L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000065200 Gene: ENSMUSG00000053863 AA Change: P202L
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
G |
A |
1: 179,583,027 (GRCm39) |
T83I |
probably damaging |
Het |
Aoah |
A |
T |
13: 21,184,108 (GRCm39) |
M391L |
probably benign |
Het |
Apc |
A |
G |
18: 34,448,476 (GRCm39) |
T1757A |
probably benign |
Het |
B4galt5 |
A |
G |
2: 167,143,261 (GRCm39) |
Y388H |
probably benign |
Het |
Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
Dcbld1 |
A |
G |
10: 52,193,206 (GRCm39) |
E246G |
probably damaging |
Het |
Fstl4 |
T |
A |
11: 53,053,881 (GRCm39) |
Y404* |
probably null |
Het |
Gnat3 |
G |
T |
5: 18,204,721 (GRCm39) |
E125* |
probably null |
Het |
Hspa5 |
C |
T |
2: 34,662,327 (GRCm39) |
|
probably benign |
Het |
Krt72 |
A |
G |
15: 101,693,315 (GRCm39) |
S200P |
probably damaging |
Het |
Mab21l3 |
G |
A |
3: 101,725,955 (GRCm39) |
T347I |
probably damaging |
Het |
Map2k7 |
A |
G |
8: 4,293,442 (GRCm39) |
E104G |
probably benign |
Het |
Map3k9 |
T |
C |
12: 81,819,471 (GRCm39) |
D261G |
probably damaging |
Het |
Mill1 |
G |
A |
7: 17,989,814 (GRCm39) |
G32D |
probably damaging |
Het |
Mmp20 |
T |
G |
9: 7,639,261 (GRCm39) |
M143R |
probably benign |
Het |
Mms19 |
A |
T |
19: 41,944,970 (GRCm39) |
L302H |
probably damaging |
Het |
Myh13 |
T |
A |
11: 67,257,992 (GRCm39) |
I1728K |
probably benign |
Het |
Nsun2 |
C |
T |
13: 69,771,365 (GRCm39) |
P290L |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,961,938 (GRCm39) |
R507S |
probably damaging |
Het |
Os9 |
T |
A |
10: 126,955,312 (GRCm39) |
H147L |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,215,070 (GRCm39) |
|
probably benign |
Het |
Plekhf1 |
A |
T |
7: 37,920,752 (GRCm39) |
V272D |
probably damaging |
Het |
Pnisr |
T |
C |
4: 21,871,537 (GRCm39) |
I419T |
possibly damaging |
Het |
Ppp1r3d |
G |
T |
2: 178,055,447 (GRCm39) |
T185K |
possibly damaging |
Het |
Ppp2r2a |
C |
T |
14: 67,253,968 (GRCm39) |
S400N |
probably benign |
Het |
Rpl21 |
T |
C |
5: 146,772,418 (GRCm39) |
I96T |
probably benign |
Het |
S1pr3 |
C |
T |
13: 51,573,751 (GRCm39) |
R311W |
probably damaging |
Het |
Senp5 |
T |
C |
16: 31,782,288 (GRCm39) |
K736R |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,878,503 (GRCm39) |
I209V |
possibly damaging |
Het |
Traf3ip1 |
T |
A |
1: 91,435,292 (GRCm39) |
|
probably null |
Het |
Tyk2 |
A |
G |
9: 21,021,790 (GRCm39) |
F879L |
probably damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,316,373 (GRCm39) |
D482G |
possibly damaging |
Het |
Vmn2r65 |
A |
G |
7: 84,589,978 (GRCm39) |
F646S |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,709,370 (GRCm39) |
S1772R |
probably damaging |
Het |
Vwde |
C |
T |
6: 13,215,705 (GRCm39) |
C117Y |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,291,174 (GRCm39) |
I2144V |
probably benign |
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 |
IGL01896:Mepe
|
APN |
5 |
104,486,135 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |