Incidental Mutation 'R2326:Bglap3'
| ID |
244908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bglap3
|
| Ensembl Gene |
ENSMUSG00000074489 |
| Gene Name |
bone gamma-carboxyglutamate protein 3 |
| Synonyms |
Bglap-rs1, ORG, mOC-X |
| MMRRC Submission |
040317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R2326 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88275923-88280048 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to C
at 88276819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075523]
[ENSMUST00000107542]
[ENSMUST00000107543]
[ENSMUST00000147948]
[ENSMUST00000147991]
|
| AlphaFold |
P54615 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000075523
AA Change: L9V
|
| SMART Domains |
Protein: ENSMUSP00000074965
Gene: ENSMUSG00000074489
AA Change: L9V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
GLA
|
31 |
91 |
5.9e-22 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107542
AA Change: L9V
|
| SMART Domains |
Protein: ENSMUSP00000103166
Gene: ENSMUSG00000074489
AA Change: L9V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
GLA
|
31 |
91 |
5.9e-22 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107543
AA Change: L9V
|
| SMART Domains |
Protein: ENSMUSP00000103167
Gene: ENSMUSG00000074489
AA Change: L9V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
GLA
|
31 |
91 |
5.9e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123200
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147948
|
| SMART Domains |
Protein: ENSMUSP00000119656
Gene: ENSMUSG00000041423
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
59 |
161 |
6.8e-18 |
PFAM |
|
transmembrane domain
|
180 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149640
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147991
|
| SMART Domains |
Protein: ENSMUSP00000114166
Gene: ENSMUSG00000041423
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
43 |
271 |
5.5e-51 |
PFAM |
|
transmembrane domain
|
292 |
314 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1777 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh3 |
A |
G |
8: 107,237,940 (GRCm39) |
T45A |
probably benign |
Het |
| Cdyl2 |
A |
G |
8: 117,350,537 (GRCm39) |
V198A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,268,396 (GRCm39) |
I443K |
probably benign |
Het |
| Dazap1 |
T |
A |
10: 80,120,067 (GRCm39) |
M234K |
possibly damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,835,442 (GRCm39) |
|
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,643,800 (GRCm39) |
Y38H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,857 (GRCm39) |
|
probably null |
Het |
| Fem1b |
T |
C |
9: 62,704,285 (GRCm39) |
H325R |
probably damaging |
Het |
| Flrt3 |
C |
A |
2: 140,503,311 (GRCm39) |
V106F |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,409,938 (GRCm39) |
S513T |
possibly damaging |
Het |
| Gm5600 |
G |
T |
7: 113,307,041 (GRCm39) |
|
noncoding transcript |
Het |
| Haspin |
A |
G |
11: 73,026,911 (GRCm39) |
I726T |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,918,563 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,876,298 (GRCm39) |
H597Q |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
C |
T |
2: 135,781,893 (GRCm39) |
T238M |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,873 (GRCm39) |
|
probably null |
Het |
| Prph |
C |
G |
15: 98,953,163 (GRCm39) |
|
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
G |
7: 46,342,235 (GRCm39) |
F403L |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,758 (GRCm39) |
T177I |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,936,115 (GRCm39) |
E52K |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
A |
12: 104,935,493 (GRCm39) |
E95V |
probably damaging |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,939 (GRCm39) |
T97N |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,916,287 (GRCm39) |
L300W |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,720,421 (GRCm39) |
E388G |
possibly damaging |
Het |
|
| Other mutations in Bglap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02343:Bglap3
|
APN |
3 |
88,276,423 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02984:Bglap3
|
UTSW |
3 |
88,276,098 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0496:Bglap3
|
UTSW |
3 |
88,276,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1435:Bglap3
|
UTSW |
3 |
88,276,453 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1903:Bglap3
|
UTSW |
3 |
88,276,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1970:Bglap3
|
UTSW |
3 |
88,284,300 (GRCm39) |
unclassified |
probably benign |
|
|
R2296:Bglap3
|
UTSW |
3 |
88,276,819 (GRCm39) |
unclassified |
probably benign |
|
|
R2917:Bglap3
|
UTSW |
3 |
88,276,819 (GRCm39) |
unclassified |
probably benign |
|
|
R4967:Bglap3
|
UTSW |
3 |
88,283,671 (GRCm39) |
unclassified |
probably benign |
|
|
R5941:Bglap3
|
UTSW |
3 |
88,283,653 (GRCm39) |
unclassified |
probably benign |
|
|
R6259:Bglap3
|
UTSW |
3 |
88,276,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9537:Bglap3
|
UTSW |
3 |
88,276,139 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACCTTTGTCAGACTCAGGGC -3'
(R):5'- AGACTCCTGCATGCATGTTGAAAG -3'
Sequencing Primer
(F):5'- CGTGGCATCTGTAAAGCAAAC -3'
(R):5'- CTGCATGCATGTTGAAAGGTTCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation