Incidental Mutation 'R1261:Bmp3'
| ID |
151598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp3
|
| Ensembl Gene |
ENSMUSG00000029335 |
| Gene Name |
bone morphogenetic protein 3 |
| Synonyms |
9530029I04Rik |
| MMRRC Submission |
039328-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1261 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
99002274-99031912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99027785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 468
(R468S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031278]
[ENSMUST00000200388]
|
| AlphaFold |
Q8BHE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031278
AA Change: R468S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031278
Gene: ENSMUSG00000029335
AA Change: R468S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
34 |
231 |
7.9e-9 |
PFAM |
|
TGFB
|
366 |
468 |
6.17e-60 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200388
|
| SMART Domains |
Protein: ENSMUSP00000142907
Gene: ENSMUSG00000029335
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
40 |
227 |
1.4e-9 |
PFAM |
|
TGFB
|
366 |
442 |
3.9e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. Homozygous knockout mice for this gene exhibit increased bone density and volume, while overexpression of this gene in a transgenic mouse causes bone defects resulting in spontaneous rib fractures. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in increased bone density. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,912,470 (GRCm39) |
V114A |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,866,624 (GRCm39) |
E171G |
possibly damaging |
Het |
| Arsi |
A |
G |
18: 61,049,743 (GRCm39) |
T209A |
probably damaging |
Het |
| Cenpk |
T |
A |
13: 104,367,293 (GRCm39) |
V43E |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cul9 |
G |
T |
17: 46,836,708 (GRCm39) |
L1106M |
probably damaging |
Het |
| Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
| Enpp3 |
A |
T |
10: 24,650,832 (GRCm39) |
V768E |
probably damaging |
Het |
| Klk1b5 |
T |
C |
7: 43,494,714 (GRCm39) |
S66P |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,069,998 (GRCm39) |
D6G |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,463,003 (GRCm39) |
K453R |
probably benign |
Het |
| Nipsnap3b |
G |
T |
4: 53,015,166 (GRCm39) |
G71V |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 121,009,930 (GRCm39) |
E335G |
probably benign |
Het |
| Or5g25 |
A |
C |
2: 85,478,143 (GRCm39) |
I174S |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Slc10a1 |
T |
A |
12: 81,014,604 (GRCm39) |
M39L |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,382,599 (GRCm39) |
R79Q |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,668,501 (GRCm39) |
T1008A |
probably damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,457,239 (GRCm39) |
D140G |
possibly damaging |
Het |
|
| Other mutations in Bmp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Bmp3
|
APN |
5 |
99,020,238 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02396:Bmp3
|
APN |
5 |
99,020,578 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03058:Bmp3
|
APN |
5 |
99,019,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03189:Bmp3
|
APN |
5 |
99,020,579 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03400:Bmp3
|
APN |
5 |
99,019,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Bmp3
|
UTSW |
5 |
99,027,608 (GRCm39) |
missense |
unknown |
|
|
R0139:Bmp3
|
UTSW |
5 |
99,027,768 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0653:Bmp3
|
UTSW |
5 |
99,019,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0881:Bmp3
|
UTSW |
5 |
99,020,461 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1413:Bmp3
|
UTSW |
5 |
99,020,264 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1481:Bmp3
|
UTSW |
5 |
99,020,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3009:Bmp3
|
UTSW |
5 |
99,027,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4507:Bmp3
|
UTSW |
5 |
99,027,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Bmp3
|
UTSW |
5 |
99,020,417 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4833:Bmp3
|
UTSW |
5 |
99,003,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Bmp3
|
UTSW |
5 |
99,019,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Bmp3
|
UTSW |
5 |
99,020,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Bmp3
|
UTSW |
5 |
99,020,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6039:Bmp3
|
UTSW |
5 |
99,020,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7179:Bmp3
|
UTSW |
5 |
99,020,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Bmp3
|
UTSW |
5 |
99,020,077 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7880:Bmp3
|
UTSW |
5 |
99,020,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Bmp3
|
UTSW |
5 |
99,020,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Bmp3
|
UTSW |
5 |
99,003,282 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8378:Bmp3
|
UTSW |
5 |
99,003,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Bmp3
|
UTSW |
5 |
99,003,282 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9191:Bmp3
|
UTSW |
5 |
99,019,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTGTCTGTGACGAGACCCGAG -3'
(R):5'- AGCCTAAGGCAAGACACCTAGTGAG -3'
Sequencing Primer
(F):5'- GAGAGCGGCTTCACCTAAC -3'
(R):5'- CCTGCTATCAAACATCTTTTGGGAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation