Incidental Mutation 'IGL00763:Bmp3'
| ID |
9276 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bmp3
|
| Ensembl Gene |
ENSMUSG00000029335 |
| Gene Name |
bone morphogenetic protein 3 |
| Synonyms |
9530029I04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
99002274-99031912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 99020238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 220
(R220S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031278]
[ENSMUST00000197143]
[ENSMUST00000200388]
|
| AlphaFold |
Q8BHE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031278
AA Change: R220S
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031278
Gene: ENSMUSG00000029335
AA Change: R220S
| 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: ENSMUST00000197143
AA Change: R220S
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000142662
Gene: ENSMUSG00000029335
AA Change: R220S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
40 |
227 |
1.2e-9 |
PFAM |
|
TGFB
|
366 |
433 |
5.1e-11 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200388
AA Change: R220S
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142907
Gene: ENSMUSG00000029335
AA Change: R220S
| 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 |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bms1 |
A |
G |
6: 118,395,363 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,411,537 (GRCm39) |
F635Y |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,518,823 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,045,407 (GRCm39) |
I341T |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,715,531 (GRCm39) |
|
probably benign |
Het |
| Dcaf4 |
G |
A |
12: 83,586,107 (GRCm39) |
R358H |
probably damaging |
Het |
| Ddx10 |
A |
C |
9: 53,071,326 (GRCm39) |
|
probably benign |
Het |
| Fgf15 |
T |
A |
7: 144,453,629 (GRCm39) |
F201I |
probably damaging |
Het |
| Galp |
A |
G |
7: 6,211,499 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,938,314 (GRCm39) |
|
probably benign |
Het |
| Iqcb1 |
A |
T |
16: 36,676,649 (GRCm39) |
|
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,657,994 (GRCm39) |
V18I |
probably benign |
Het |
| Lypd8l |
T |
G |
11: 58,503,707 (GRCm39) |
|
probably benign |
Het |
| Morc1 |
A |
C |
16: 48,432,689 (GRCm39) |
Q719P |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,727,076 (GRCm39) |
D568G |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,366,998 (GRCm39) |
E204G |
probably null |
Het |
| Rasgrf1 |
A |
G |
9: 89,853,073 (GRCm39) |
T403A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,356,827 (GRCm39) |
T12A |
probably benign |
Het |
| Slc12a7 |
A |
T |
13: 73,942,201 (GRCm39) |
N359I |
possibly damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,235,453 (GRCm39) |
D241E |
probably damaging |
Het |
| Slc23a2 |
G |
T |
2: 131,943,420 (GRCm39) |
A27E |
probably benign |
Het |
| Slc38a8 |
T |
C |
8: 120,220,958 (GRCm39) |
I200M |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,669,872 (GRCm39) |
L20P |
probably damaging |
Het |
| Tnfsfm13 |
T |
C |
11: 69,575,536 (GRCm39) |
D256G |
probably benign |
Het |
| Tonsl |
C |
T |
15: 76,518,068 (GRCm39) |
A605T |
probably damaging |
Het |
| Usp28 |
A |
G |
9: 48,939,463 (GRCm39) |
T240A |
probably benign |
Het |
| Zap70 |
A |
T |
1: 36,818,333 (GRCm39) |
D340V |
possibly damaging |
Het |
| Zfp512b |
A |
T |
2: 181,231,944 (GRCm39) |
F100I |
probably damaging |
Het |
|
| Other mutations in Bmp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1261:Bmp3
|
UTSW |
5 |
99,027,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation