Incidental Mutation 'IGL02396:Bmp3'
ID |
294356 |
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 # |
IGL02396
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
99002274-99031912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 99020578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 334
(Q334K)
|
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: Q334K
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000031278 Gene: ENSMUSG00000029335 AA Change: Q334K
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 |
possibly damaging
Transcript: ENSMUST00000197143
AA Change: Q334K
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142662 Gene: ENSMUSG00000029335 AA Change: Q334K
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: Q334K
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142907 Gene: ENSMUSG00000029335 AA Change: Q334K
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
C |
T |
14: 54,882,256 (GRCm39) |
|
probably benign |
Het |
Bhmt1b |
A |
G |
18: 87,774,780 (GRCm39) |
E101G |
possibly damaging |
Het |
Bnc2 |
G |
T |
4: 84,194,246 (GRCm39) |
S1026R |
probably benign |
Het |
Bsn |
C |
T |
9: 107,993,245 (GRCm39) |
G836S |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,768,149 (GRCm39) |
|
probably benign |
Het |
Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
Ccdc38 |
A |
G |
10: 93,409,994 (GRCm39) |
N271S |
possibly damaging |
Het |
Ccdc81 |
T |
G |
7: 89,530,857 (GRCm39) |
I362L |
probably benign |
Het |
Cdhr3 |
T |
A |
12: 33,095,195 (GRCm39) |
I625F |
possibly damaging |
Het |
Col12a1 |
T |
A |
9: 79,569,865 (GRCm39) |
R1568S |
probably benign |
Het |
Cpeb4 |
T |
A |
11: 31,875,441 (GRCm39) |
S547T |
probably benign |
Het |
Dennd4c |
T |
A |
4: 86,743,237 (GRCm39) |
N1075K |
probably damaging |
Het |
Esrra |
C |
A |
19: 6,889,373 (GRCm39) |
V339L |
probably benign |
Het |
Ghr |
A |
T |
15: 3,487,480 (GRCm39) |
M1K |
probably null |
Het |
Gm4987 |
T |
A |
X: 45,544,991 (GRCm39) |
|
noncoding transcript |
Het |
Golga2 |
G |
T |
2: 32,188,656 (GRCm39) |
|
probably benign |
Het |
Gys1 |
T |
A |
7: 45,089,012 (GRCm39) |
I137N |
probably damaging |
Het |
Hs3st5 |
A |
T |
10: 36,704,699 (GRCm39) |
M1L |
probably benign |
Het |
Hsd3b5 |
T |
A |
3: 98,529,343 (GRCm39) |
T96S |
probably benign |
Het |
Ighv6-3 |
T |
C |
12: 114,355,356 (GRCm39) |
D111G |
probably damaging |
Het |
Immp1l |
T |
A |
2: 105,767,351 (GRCm39) |
I70N |
probably damaging |
Het |
Ints4 |
G |
A |
7: 97,187,107 (GRCm39) |
V866I |
possibly damaging |
Het |
Large2 |
G |
T |
2: 92,196,668 (GRCm39) |
Y529* |
probably null |
Het |
Maf1 |
C |
A |
15: 76,237,457 (GRCm39) |
Y166* |
probably null |
Het |
Manba |
T |
A |
3: 135,250,525 (GRCm39) |
M384K |
probably damaging |
Het |
Mapk4 |
C |
A |
18: 74,067,068 (GRCm39) |
|
probably null |
Het |
Mc5r |
T |
C |
18: 68,472,537 (GRCm39) |
S299P |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,700,120 (GRCm39) |
N1404K |
probably damaging |
Het |
Milr1 |
C |
A |
11: 106,656,065 (GRCm39) |
Y212* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,114,978 (GRCm39) |
S1115P |
probably damaging |
Het |
Or10ag57 |
A |
T |
2: 87,218,049 (GRCm39) |
|
probably benign |
Het |
Or4f61 |
C |
A |
2: 111,922,812 (GRCm39) |
C78F |
probably benign |
Het |
Osbpl7 |
T |
G |
11: 96,946,377 (GRCm39) |
L158R |
probably damaging |
Het |
Psmd4 |
A |
T |
3: 94,943,221 (GRCm39) |
L61Q |
probably damaging |
Het |
Rassf9 |
A |
T |
10: 102,381,554 (GRCm39) |
N310I |
possibly damaging |
Het |
Rpl21-ps6 |
A |
G |
17: 56,222,400 (GRCm39) |
|
noncoding transcript |
Het |
Slc31a2 |
T |
C |
4: 62,215,310 (GRCm39) |
I119T |
probably damaging |
Het |
Srgap2 |
C |
A |
1: 131,220,413 (GRCm39) |
C187F |
probably damaging |
Het |
Tekt5 |
C |
A |
16: 10,196,931 (GRCm39) |
A307S |
probably benign |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,775,432 (GRCm39) |
V1916A |
unknown |
Het |
Wee1 |
T |
G |
7: 109,741,300 (GRCm39) |
V641G |
probably damaging |
Het |
Zfand6 |
G |
A |
7: 84,267,111 (GRCm39) |
P157L |
probably 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 |
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 |
2015-04-16 |