Incidental Mutation 'R6716:Bmp7'
| ID |
529393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp7
|
| Ensembl Gene |
ENSMUSG00000008999 |
| Gene Name |
bone morphogenetic protein 7 |
| Synonyms |
OP1, osteogenic protein 1 |
| MMRRC Submission |
044834-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6716 (G1)
|
| Quality Score |
175.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
172709805-172782114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 172714682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 376
(A376T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009143]
|
| AlphaFold |
P23359 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009143
AA Change: A376T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000009143
Gene: ENSMUSG00000008999
AA Change: A376T
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.4%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bnip2 |
T |
C |
9: 69,910,943 (GRCm39) |
I296T |
probably damaging |
Het |
| Chrm2 |
T |
A |
6: 36,501,370 (GRCm39) |
I409N |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,830,565 (GRCm39) |
T4310S |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,379,130 (GRCm39) |
S122P |
probably damaging |
Het |
| Krt20 |
T |
C |
11: 99,322,754 (GRCm39) |
T294A |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,402,231 (GRCm39) |
S635N |
probably damaging |
Het |
| Nphs2 |
A |
G |
1: 156,148,637 (GRCm39) |
S242G |
probably benign |
Het |
| Prss23 |
A |
C |
7: 89,159,055 (GRCm39) |
I338S |
probably damaging |
Het |
| Rab11fip3 |
G |
T |
17: 26,210,031 (GRCm39) |
S1028R |
probably damaging |
Het |
| Rlig1 |
T |
G |
10: 100,409,478 (GRCm39) |
I312L |
probably benign |
Het |
| Sec23a |
C |
T |
12: 59,015,609 (GRCm39) |
G711D |
probably benign |
Het |
| Slc50a1 |
T |
C |
3: 89,177,214 (GRCm39) |
T68A |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,339,949 (GRCm39) |
|
probably null |
Het |
| Tas2r122 |
A |
T |
6: 132,688,860 (GRCm39) |
I11N |
probably damaging |
Het |
| Tpr |
C |
T |
1: 150,290,516 (GRCm39) |
R782C |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,858,749 (GRCm39) |
L2733P |
probably benign |
Het |
| Vtn |
C |
T |
11: 78,391,052 (GRCm39) |
R211C |
probably damaging |
Het |
| Xrcc1 |
T |
C |
7: 24,266,571 (GRCm39) |
|
probably null |
Het |
| Zc2hc1b |
T |
C |
10: 13,047,027 (GRCm39) |
D28G |
probably 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 |
|
IGL03211:Bmp7
|
APN |
2 |
172,714,676 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTCTGGGTCAACAGCAG -3'
(R):5'- TATGTCCACTGGGCATGAGGAG -3'
Sequencing Primer
(F):5'- GCAGGAGAAGCCACTCATAC -3'
(R):5'- TGGGACACACAGAGGTACCAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation