Incidental Mutation 'IGL00843:Bglap'
| ID |
9266 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bglap
|
| Ensembl Gene |
ENSMUSG00000074483 |
| Gene Name |
bone gamma carboxyglutamate protein |
| Synonyms |
bone Gla protein, OC, mOC-A, osteocalcin, OG1, Bglap1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
IGL00843
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88290808-88291771 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 88291657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075425
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076048]
|
| AlphaFold |
P86546 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000076048
|
| SMART Domains |
Protein: ENSMUSP00000075425
Gene: ENSMUSG00000074483
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpnt2 |
T |
C |
4: 4,776,308 (GRCm39) |
|
probably benign |
Het |
| Clcn2 |
T |
C |
16: 20,522,391 (GRCm39) |
T772A |
probably benign |
Het |
| Cldn18 |
A |
T |
9: 99,580,874 (GRCm39) |
F125I |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,581,379 (GRCm39) |
S538P |
possibly damaging |
Het |
| Ets2 |
T |
G |
16: 95,510,837 (GRCm39) |
F32V |
probably benign |
Het |
| F5 |
G |
A |
1: 164,039,360 (GRCm39) |
R1990Q |
probably benign |
Het |
| Fetub |
A |
G |
16: 22,748,379 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,422,158 (GRCm39) |
E983K |
probably benign |
Het |
| Hemgn |
A |
G |
4: 46,396,240 (GRCm39) |
M332T |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,486,464 (GRCm39) |
I4314T |
possibly damaging |
Het |
| Lonrf2 |
C |
A |
1: 38,851,616 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,510,191 (GRCm39) |
I430T |
possibly damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,641,261 (GRCm39) |
V1606A |
possibly damaging |
Het |
| Oog2 |
G |
T |
4: 143,921,742 (GRCm39) |
L217F |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,683,411 (GRCm39) |
H791R |
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,860,884 (GRCm39) |
S802L |
probably damaging |
Het |
| Prss32 |
T |
A |
17: 24,076,336 (GRCm39) |
L233Q |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,582,099 (GRCm39) |
V1337E |
probably benign |
Het |
| Slc15a3 |
T |
A |
19: 10,830,627 (GRCm39) |
M326K |
probably null |
Het |
| Slc25a54 |
A |
T |
3: 109,020,176 (GRCm39) |
T397S |
possibly damaging |
Het |
| Slfn3 |
C |
T |
11: 83,104,257 (GRCm39) |
T376M |
probably damaging |
Het |
| Stradb |
T |
A |
1: 59,033,568 (GRCm39) |
D410E |
probably benign |
Het |
| Tdh |
T |
C |
14: 63,733,213 (GRCm39) |
T178A |
probably damaging |
Het |
| Tspan12 |
T |
A |
6: 21,851,081 (GRCm39) |
|
probably benign |
Het |
| Ube2b |
A |
T |
11: 51,886,202 (GRCm39) |
D50E |
probably benign |
Het |
| Zranb1 |
A |
C |
7: 132,551,622 (GRCm39) |
H117P |
probably benign |
Het |
|
| Other mutations in Bglap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0592:Bglap
|
UTSW |
3 |
88,290,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation