Incidental Mutation 'IGL03211:Bmp7'
ID |
413307 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bmp7
|
Ensembl Gene |
ENSMUSG00000008999 |
Gene Name |
bone morphogenetic protein 7 |
Synonyms |
OP1, osteogenic protein 1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03211
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
172709805-172782114 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 172714676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 378
(V378I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009143]
|
AlphaFold |
P23359 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009143
AA Change: V378I
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000009143 Gene: ENSMUSG00000008999 AA Change: V378I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
Pfam:TGFb_propeptide
|
34 |
279 |
4.3e-97 |
PFAM |
TGFB
|
329 |
430 |
2.14e-68 |
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. Mutation of this gene results in skeletal, kidney, and other developmental defects. [provided by RefSeq, Jul 2016] PHENOTYPE: Various homozygous targeted mutations result in postnatal lethality, a wide range of skeletal and cartilage abnormalities, renal dysplasia and polycystic kidney, and eye defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd209b |
G |
T |
8: 3,968,830 (GRCm39) |
|
probably benign |
Het |
Cilp |
A |
T |
9: 65,187,457 (GRCm39) |
Q1184L |
probably benign |
Het |
Cysltr2 |
A |
T |
14: 73,267,155 (GRCm39) |
M185K |
possibly damaging |
Het |
Dcaf6 |
A |
G |
1: 165,250,502 (GRCm39) |
F121L |
possibly damaging |
Het |
Dnajc8 |
T |
A |
4: 132,272,048 (GRCm39) |
Y95N |
possibly damaging |
Het |
Ebf3 |
A |
G |
7: 136,833,033 (GRCm39) |
V214A |
probably benign |
Het |
Elavl3 |
A |
G |
9: 21,929,974 (GRCm39) |
V310A |
probably damaging |
Het |
Emc2 |
C |
T |
15: 43,371,068 (GRCm39) |
R131* |
probably null |
Het |
Hcn4 |
G |
A |
9: 58,765,434 (GRCm39) |
V639M |
unknown |
Het |
Kif21a |
T |
G |
15: 90,882,166 (GRCm39) |
D46A |
possibly damaging |
Het |
Kitl |
T |
C |
10: 99,916,721 (GRCm39) |
S175P |
probably benign |
Het |
Klhl32 |
C |
T |
4: 24,792,616 (GRCm39) |
|
probably null |
Het |
Plcg1 |
C |
T |
2: 160,601,611 (GRCm39) |
T972I |
possibly damaging |
Het |
Prdm13 |
T |
C |
4: 21,678,492 (GRCm39) |
H666R |
probably damaging |
Het |
Rap1gap |
G |
A |
4: 137,443,157 (GRCm39) |
|
probably null |
Het |
Rdh7 |
T |
C |
10: 127,723,492 (GRCm39) |
N121S |
probably benign |
Het |
Ric8b |
T |
A |
10: 84,837,657 (GRCm39) |
I488N |
probably damaging |
Het |
Slc38a2 |
A |
T |
15: 96,596,153 (GRCm39) |
|
probably null |
Het |
Slc9a9 |
G |
A |
9: 95,020,043 (GRCm39) |
|
probably benign |
Het |
Tk2 |
T |
A |
8: 104,970,073 (GRCm39) |
I64F |
probably damaging |
Het |
Virma |
G |
A |
4: 11,548,770 (GRCm39) |
W1776* |
probably null |
Het |
Vrk1 |
C |
T |
12: 106,002,847 (GRCm39) |
A15V |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 101,992,778 (GRCm39) |
|
probably benign |
Het |
Wfdc10 |
T |
C |
2: 164,499,172 (GRCm39) |
V94A |
probably benign |
Het |
Zfp780b |
A |
T |
7: 27,662,600 (GRCm39) |
C652S |
possibly damaging |
Het |
|
Other mutations in Bmp7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01099:Bmp7
|
APN |
2 |
172,717,055 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01143:Bmp7
|
APN |
2 |
172,721,275 (GRCm39) |
missense |
probably benign |
|
IGL01636:Bmp7
|
APN |
2 |
172,717,001 (GRCm39) |
splice site |
probably benign |
|
IGL02331:Bmp7
|
APN |
2 |
172,714,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Bmp7
|
UTSW |
2 |
172,781,714 (GRCm39) |
missense |
probably damaging |
0.97 |
R2044:Bmp7
|
UTSW |
2 |
172,781,708 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3772:Bmp7
|
UTSW |
2 |
172,712,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4392:Bmp7
|
UTSW |
2 |
172,758,335 (GRCm39) |
missense |
probably benign |
0.25 |
R6716:Bmp7
|
UTSW |
2 |
172,714,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R6774:Bmp7
|
UTSW |
2 |
172,714,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R6864:Bmp7
|
UTSW |
2 |
172,781,855 (GRCm39) |
missense |
probably benign |
0.00 |
R6904:Bmp7
|
UTSW |
2 |
172,714,706 (GRCm39) |
missense |
probably damaging |
0.97 |
R7295:Bmp7
|
UTSW |
2 |
172,781,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R7390:Bmp7
|
UTSW |
2 |
172,711,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7392:Bmp7
|
UTSW |
2 |
172,711,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7560:Bmp7
|
UTSW |
2 |
172,781,757 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7871:Bmp7
|
UTSW |
2 |
172,781,784 (GRCm39) |
missense |
probably benign |
0.00 |
R7938:Bmp7
|
UTSW |
2 |
172,721,283 (GRCm39) |
missense |
probably benign |
0.44 |
R8790:Bmp7
|
UTSW |
2 |
172,712,060 (GRCm39) |
missense |
probably benign |
0.08 |
R8927:Bmp7
|
UTSW |
2 |
172,721,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R8928:Bmp7
|
UTSW |
2 |
172,721,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R9458:Bmp7
|
UTSW |
2 |
172,721,268 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9470:Bmp7
|
UTSW |
2 |
172,711,960 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Bmp7
|
UTSW |
2 |
172,781,594 (GRCm39) |
missense |
probably benign |
0.25 |
|
Posted On |
2016-08-02 |