Incidental Mutation 'IGL02586:Mepe'
| ID |
299546 |
| 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 # |
IGL02586
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
104473195-104486477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 104485316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 152
(T152N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066207]
|
| AlphaFold |
Q8K4L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066207
AA Change: T152N
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065200
Gene: ENSMUSG00000053863
AA Change: T152N
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,243,983 (GRCm39) |
I1949V |
possibly damaging |
Het |
| Anapc2 |
T |
A |
2: 25,175,108 (GRCm39) |
M742K |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,917,200 (GRCm39) |
K380* |
probably null |
Het |
| Armc1 |
G |
T |
3: 19,188,192 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,098,757 (GRCm39) |
W4626* |
probably null |
Het |
| Diaph3 |
A |
T |
14: 87,223,512 (GRCm39) |
L323* |
probably null |
Het |
| Fbxo11 |
C |
T |
17: 88,318,711 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
C |
T |
17: 23,974,676 (GRCm39) |
A655T |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,285,160 (GRCm39) |
D1327G |
probably damaging |
Het |
| Ggact |
G |
A |
14: 123,128,942 (GRCm39) |
T91I |
possibly damaging |
Het |
| Gm10250 |
T |
A |
15: 5,150,412 (GRCm39) |
|
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,765,641 (GRCm39) |
S303G |
probably damaging |
Het |
| Helt |
T |
C |
8: 46,746,276 (GRCm39) |
E15G |
probably damaging |
Het |
| Kcnf1 |
T |
A |
12: 17,226,144 (GRCm39) |
S26C |
probably benign |
Het |
| Lilra6 |
T |
C |
7: 3,911,819 (GRCm39) |
T280A |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,559,539 (GRCm39) |
D110E |
possibly damaging |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,260,810 (GRCm39) |
D121G |
possibly damaging |
Het |
| Or6c214 |
A |
G |
10: 129,590,524 (GRCm39) |
I265T |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,713,068 (GRCm39) |
D718G |
probably benign |
Het |
| Phf2 |
A |
T |
13: 48,967,334 (GRCm39) |
|
probably benign |
Het |
| Pigc |
A |
T |
1: 161,798,503 (GRCm39) |
I162F |
probably benign |
Het |
| Raf1 |
A |
G |
6: 115,597,267 (GRCm39) |
L11P |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,007,261 (GRCm39) |
Y573C |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rnf149 |
T |
G |
1: 39,604,296 (GRCm39) |
Q189P |
probably benign |
Het |
| Slc11a1 |
T |
C |
1: 74,424,291 (GRCm39) |
|
probably benign |
Het |
| Slc22a12 |
C |
T |
19: 6,590,487 (GRCm39) |
M234I |
probably benign |
Het |
| Slc28a1 |
A |
T |
7: 80,814,167 (GRCm39) |
I455F |
probably benign |
Het |
| Slc35f5 |
T |
G |
1: 125,512,273 (GRCm39) |
L358V |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,235,147 (GRCm39) |
V562D |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ushbp1 |
T |
C |
8: 71,841,394 (GRCm39) |
|
probably benign |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,735 (GRCm39) |
Y30* |
probably null |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,434 (GRCm39) |
Y174* |
probably null |
Het |
| Wwox |
T |
C |
8: 115,438,947 (GRCm39) |
Y338H |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zup1 |
A |
T |
10: 33,811,261 (GRCm39) |
|
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation