Incidental Mutation 'R0592:Bglap'
| ID |
56013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bglap
|
| Ensembl Gene |
ENSMUSG00000074483 |
| Gene Name |
bone gamma carboxyglutamate protein |
| Synonyms |
bone Gla protein, OC, mOC-A, osteocalcin, OG1, Bglap1 |
| MMRRC Submission |
038782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R0592 (G1)
|
| Quality Score |
198 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88290808-88291771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88290962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 90
(I90F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076048]
[ENSMUST00000098956]
|
| AlphaFold |
P86546 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076048
AA Change: I90F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000075425
Gene: ENSMUSG00000074483
AA Change: I90F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
GLA
|
31 |
91 |
5.22e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098956
|
| SMART Domains |
Protein: ENSMUSP00000096555
Gene: ENSMUSG00000074486
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
GLA
|
31 |
91 |
5.22e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107540
|
| SMART Domains |
Protein: ENSMUSP00000103164
Gene: ENSMUSG00000078691
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
5 |
127 |
3.4e-21 |
PFAM |
|
transmembrane domain
|
148 |
170 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128732
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: This gene encodes one of the most abundant non-collagenous proteins in bone tissue that is localized to the mineralized matrix of bone. The encoded preproprotein undergoes proteolytic processing and post-translational gamma carboxylation to generate a mature, calcium-binding protein. Mice lacking the encoded protein develop abnormalities of bone remodelling. This gene is located adjacent to two other osteocalcin-related genes on chromosome 3. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele of both Bglap1 and Bglap2 exhibit decreased circulating insulin, impaired glucose tolerance, increased adipose tissue, increased bone density, and decreased male fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
| Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
| Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
| Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
| Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
| Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
| Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
| Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
| Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
| Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
| Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
| Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
probably benign |
Het |
|
| Other mutations in Bglap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00843:Bglap
|
APN |
3 |
88,291,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02631:Bglap
|
APN |
3 |
88,290,987 (GRCm39) |
nonsense |
probably null |
|
|
IGL02738:Bglap
|
APN |
3 |
88,291,715 (GRCm39) |
missense |
unknown |
|
|
IGL03394:Bglap
|
APN |
3 |
88,291,312 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1945:Bglap
|
UTSW |
3 |
88,290,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4067:Bglap
|
UTSW |
3 |
88,291,744 (GRCm39) |
unclassified |
probably benign |
|
|
R4795:Bglap
|
UTSW |
3 |
88,291,712 (GRCm39) |
missense |
unknown |
|
|
R4796:Bglap
|
UTSW |
3 |
88,291,712 (GRCm39) |
missense |
unknown |
|
|
R7744:Bglap
|
UTSW |
3 |
88,290,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGAGTGTGAAGCCTTCCCCGAC -3'
(R):5'- AGCCCTTAGCCTTCCATAGTGGTAG -3'
Sequencing Primer
(F):5'- CCACGATGGACAGACTCG -3'
(R):5'- TAGACGTGCAGGTCAATCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation