Incidental Mutation 'IGL01143:Bmp7'
| ID |
50624 |
| 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 # |
IGL01143
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
172709805-172782114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 172721275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 267
(H267N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009143]
|
| AlphaFold |
P23359 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009143
AA Change: H267N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000009143
Gene: ENSMUSG00000008999
AA Change: H267N
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
T |
10: 85,490,335 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
A |
G |
3: 151,205,866 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
C |
13: 81,567,470 (GRCm39) |
D5234E |
probably benign |
Het |
| Ccdc113 |
T |
C |
8: 96,260,888 (GRCm39) |
V30A |
probably damaging |
Het |
| Ccdc185 |
A |
T |
1: 182,575,417 (GRCm39) |
L424Q |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,937,445 (GRCm39) |
D58E |
probably damaging |
Het |
| Ces1f |
C |
T |
8: 93,998,458 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
T |
A |
17: 56,370,336 (GRCm39) |
D600E |
possibly damaging |
Het |
| Cndp2 |
A |
G |
18: 84,695,442 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,976,475 (GRCm39) |
D2727V |
probably damaging |
Het |
| Dync1li2 |
T |
C |
8: 105,156,085 (GRCm39) |
D252G |
probably damaging |
Het |
| Ephx2 |
C |
T |
14: 66,326,971 (GRCm39) |
R408Q |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,488,569 (GRCm39) |
T3427K |
possibly damaging |
Het |
| Gal3st4 |
A |
G |
5: 138,269,664 (GRCm39) |
M1T |
probably null |
Het |
| Gm5828 |
T |
C |
1: 16,840,172 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7694 |
C |
T |
1: 170,130,394 (GRCm39) |
M1I |
probably null |
Het |
| Gpatch1 |
A |
G |
7: 35,000,997 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
G |
T |
16: 87,754,488 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
G |
5: 134,225,394 (GRCm39) |
T161A |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,706,533 (GRCm39) |
I790V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,274,870 (GRCm39) |
V609I |
probably benign |
Het |
| Kcnq4 |
T |
G |
4: 120,555,820 (GRCm39) |
D585A |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,684 (GRCm39) |
Y464C |
probably damaging |
Het |
| Lpar6 |
G |
A |
14: 73,476,077 (GRCm39) |
D13N |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,176,761 (GRCm39) |
Y132H |
probably damaging |
Het |
| Nphp1 |
C |
T |
2: 127,622,056 (GRCm39) |
V24I |
probably benign |
Het |
| Or5b104 |
A |
T |
19: 13,072,476 (GRCm39) |
F179I |
probably damaging |
Het |
| Or5w17 |
T |
C |
2: 87,584,278 (GRCm39) |
N20D |
probably benign |
Het |
| Or8b1c |
G |
T |
9: 38,384,338 (GRCm39) |
M98I |
possibly damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,575,690 (GRCm39) |
W23R |
probably benign |
Het |
| Plekhg3 |
T |
C |
12: 76,611,756 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,808,752 (GRCm39) |
K396R |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,182,159 (GRCm39) |
D736G |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,846,614 (GRCm39) |
D46G |
probably benign |
Het |
| Spata31 |
T |
G |
13: 65,068,630 (GRCm39) |
Y259* |
probably null |
Het |
| Synj1 |
T |
C |
16: 90,748,864 (GRCm39) |
E1064G |
probably damaging |
Het |
| Tom1 |
A |
G |
8: 75,785,085 (GRCm39) |
T81A |
probably benign |
Het |
| Ttc23l |
A |
G |
15: 10,530,775 (GRCm39) |
I279T |
probably damaging |
Het |
| Ttc39a |
T |
C |
4: 109,300,010 (GRCm39) |
|
probably null |
Het |
| Vmn2r108 |
C |
A |
17: 20,682,727 (GRCm39) |
A826S |
possibly damaging |
Het |
| Zyg11b |
A |
T |
4: 108,102,191 (GRCm39) |
V510E |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation