Incidental Mutation 'R3040:Mepe'
ID |
264917 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mepe
|
Ensembl Gene |
ENSMUSG00000053863 |
Gene Name |
matrix extracellular phosphoglycoprotein with ASARM motif (bone) |
Synonyms |
OF45 |
MMRRC Submission |
040556-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R3040 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
104473195-104486477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 104485988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 376
(L376R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066207]
|
AlphaFold |
Q8K4L6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066207
AA Change: L376R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000065200 Gene: ENSMUSG00000053863 AA Change: L376R
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amotl1 |
A |
C |
9: 14,484,069 (GRCm39) |
V498G |
probably benign |
Het |
Ampd2 |
A |
G |
3: 107,983,732 (GRCm39) |
Y602H |
probably damaging |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Ccar1 |
G |
T |
10: 62,592,273 (GRCm39) |
H760N |
possibly damaging |
Het |
Cyp2c50 |
A |
G |
19: 40,086,570 (GRCm39) |
N319S |
probably benign |
Het |
Dcdc2c |
G |
C |
12: 28,602,181 (GRCm39) |
A41G |
probably damaging |
Het |
Dzip3 |
G |
A |
16: 48,748,687 (GRCm39) |
S1083F |
probably damaging |
Het |
Etfdh |
C |
T |
3: 79,512,226 (GRCm39) |
R498Q |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,226,459 (GRCm39) |
C772S |
probably damaging |
Het |
Gask1b |
T |
A |
3: 79,794,432 (GRCm39) |
I300N |
possibly damaging |
Het |
Gdap2 |
T |
C |
3: 100,095,351 (GRCm39) |
|
probably null |
Het |
Iqcj |
T |
C |
3: 67,962,675 (GRCm39) |
S79P |
probably damaging |
Het |
Isg20l2 |
T |
C |
3: 87,839,302 (GRCm39) |
V171A |
probably benign |
Het |
Kcna7 |
GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC |
GGCTGC |
7: 45,056,212 (GRCm39) |
|
probably null |
Het |
Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nedd4 |
T |
C |
9: 72,577,243 (GRCm39) |
F23L |
probably benign |
Het |
Neurl1a |
T |
C |
19: 47,228,270 (GRCm39) |
S22P |
probably benign |
Het |
Pramel51 |
A |
T |
12: 88,145,118 (GRCm39) |
S69R |
probably benign |
Het |
Psmd2 |
T |
C |
16: 20,476,317 (GRCm39) |
V470A |
probably benign |
Het |
Pyroxd2 |
G |
T |
19: 42,723,957 (GRCm39) |
Q323K |
probably benign |
Het |
Slf2 |
A |
G |
19: 44,969,008 (GRCm39) |
D1157G |
probably damaging |
Het |
Styxl1 |
C |
T |
5: 135,785,887 (GRCm39) |
A197T |
probably damaging |
Het |
Tmem70 |
C |
T |
1: 16,737,989 (GRCm39) |
T100M |
possibly damaging |
Het |
Trip12 |
A |
G |
1: 84,719,966 (GRCm39) |
V309A |
probably benign |
Het |
Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
Vmn1r122 |
G |
C |
7: 20,867,371 (GRCm39) |
P228R |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCAAAATGCTCATCAAGGG -3'
(R):5'- AGAACTCCCACTGGATGACG -3'
Sequencing Primer
(F):5'- GCTCATCAAGGGAAAGTAGAATTTC -3'
(R):5'- ATGACGACTCGCTGCTGTC -3'
|
Posted On |
2015-02-05 |