Incidental Mutation 'R4507:Bmp3'
ID |
332047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bmp3
|
Ensembl Gene |
ENSMUSG00000029335 |
Gene Name |
bone morphogenetic protein 3 |
Synonyms |
9530029I04Rik |
MMRRC Submission |
041756-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4507 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
99002274-99031912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99027633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 418
(I418L)
|
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: I418L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000031278 Gene: ENSMUSG00000029335 AA Change: I418L
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 |
unknown
Transcript: ENSMUST00000200388
AA Change: H442L
|
SMART Domains |
Protein: ENSMUSP00000142907 Gene: ENSMUSG00000029335 AA Change: H442L
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 |
|
Meta Mutation Damage Score |
0.3067 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
100% (41/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
C |
7: 130,747,601 (GRCm39) |
Y83C |
probably damaging |
Het |
Abca8a |
A |
T |
11: 109,953,851 (GRCm39) |
I863N |
probably benign |
Het |
Abr |
A |
G |
11: 76,342,683 (GRCm39) |
I608T |
possibly damaging |
Het |
Aebp1 |
A |
G |
11: 5,820,565 (GRCm39) |
Y485C |
probably damaging |
Het |
Akap5 |
A |
G |
12: 76,374,681 (GRCm39) |
K38E |
possibly damaging |
Het |
Bhlhe22 |
T |
C |
3: 18,109,123 (GRCm39) |
S58P |
probably benign |
Het |
Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
Catsperb |
T |
A |
12: 101,447,087 (GRCm39) |
|
probably null |
Het |
Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
Clic1 |
A |
G |
17: 35,271,761 (GRCm39) |
T52A |
probably benign |
Het |
Dnah7c |
C |
T |
1: 46,805,771 (GRCm39) |
R3407C |
probably damaging |
Het |
Elp2 |
A |
G |
18: 24,759,177 (GRCm39) |
|
probably null |
Het |
Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
Folh1 |
T |
C |
7: 86,406,216 (GRCm39) |
T286A |
probably benign |
Het |
H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
Hcn2 |
T |
A |
10: 79,560,620 (GRCm39) |
I317N |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,837,276 (GRCm39) |
L760I |
probably damaging |
Het |
Hoxc10 |
A |
T |
15: 102,875,387 (GRCm39) |
Y32F |
probably damaging |
Het |
Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
Mdh1 |
C |
T |
11: 21,508,470 (GRCm39) |
V291M |
probably benign |
Het |
Myh14 |
T |
C |
7: 44,279,415 (GRCm39) |
T963A |
probably benign |
Het |
Mylk |
T |
C |
16: 34,774,065 (GRCm39) |
F1305L |
probably benign |
Het |
Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
Or8b9 |
T |
C |
9: 37,766,201 (GRCm39) |
F29S |
possibly damaging |
Het |
Parp11 |
A |
G |
6: 127,451,246 (GRCm39) |
R99G |
probably damaging |
Het |
Phactr1 |
C |
A |
13: 43,250,270 (GRCm39) |
T522N |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,726,014 (GRCm39) |
T1423A |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,195,168 (GRCm39) |
I1253V |
probably benign |
Het |
Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
Samd4b |
A |
G |
7: 28,106,925 (GRCm39) |
M329T |
probably benign |
Het |
Srrm4 |
T |
C |
5: 116,584,612 (GRCm39) |
Y486C |
probably damaging |
Het |
Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
Tec |
T |
C |
5: 72,917,701 (GRCm39) |
D506G |
probably damaging |
Het |
Trabd |
A |
G |
15: 88,969,833 (GRCm39) |
I316V |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,013,786 (GRCm39) |
F952I |
probably damaging |
Het |
Vat1l |
T |
C |
8: 114,932,556 (GRCm39) |
L34P |
probably benign |
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 |
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 |
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'- GACCCTAACAGGCGCTTTATAG -3'
(R):5'- AACTCGTGATTGGATGGAGC -3'
Sequencing Primer
(F):5'- CAGGCGCTTTATAGATGATACATCC -3'
(R):5'- AGCATCTGTGAGTTCTTGAAGAG -3'
|
Posted On |
2015-07-21 |