Incidental Mutation 'IGL00946:Bmp10'
| ID |
27653 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bmp10
|
| Ensembl Gene |
ENSMUSG00000030046 |
| Gene Name |
bone morphogenetic protein 10 |
| Synonyms |
b2b2711Clo |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
87405976-87411494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87411344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 379
(Q379L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032125]
|
| AlphaFold |
Q9R229 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032125
AA Change: Q379L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032125
Gene: ENSMUSG00000030046
AA Change: Q379L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
52 |
256 |
8.1e-24 |
PFAM |
|
TGFB
|
320 |
420 |
6.7e-52 |
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 the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. Homozygous knockout mice for this gene exhibit impaired heart development and embryonic lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice display decreased embryo size, cardiac dysgenesis, defects in early embryonic vascular development, enlarged pericardium, arteriovenous malformations, and embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,790,373 (GRCm39) |
I538T |
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,248,876 (GRCm39) |
A446T |
possibly damaging |
Het |
| Chrdl1 |
G |
A |
X: 142,077,164 (GRCm39) |
|
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,168,112 (GRCm39) |
H370R |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,461,434 (GRCm39) |
T698A |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,472,534 (GRCm39) |
T593A |
possibly damaging |
Het |
| Dus1l |
T |
C |
11: 120,684,701 (GRCm39) |
T157A |
probably damaging |
Het |
| Efcab6 |
T |
C |
15: 83,902,897 (GRCm39) |
N151S |
probably benign |
Het |
| Eif2b5 |
T |
A |
16: 20,324,002 (GRCm39) |
H448Q |
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,673,121 (GRCm39) |
D221G |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,139,898 (GRCm39) |
G996S |
probably benign |
Het |
| Fn1 |
G |
A |
1: 71,684,699 (GRCm39) |
|
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,027,924 (GRCm39) |
Y10C |
probably damaging |
Het |
| Ghitm |
C |
T |
14: 36,847,203 (GRCm39) |
M290I |
probably benign |
Het |
| Gpd2 |
T |
C |
2: 57,158,096 (GRCm39) |
|
probably null |
Het |
| Htr2a |
T |
A |
14: 74,943,582 (GRCm39) |
Y387* |
probably null |
Het |
| Lrrc7 |
T |
A |
3: 157,866,993 (GRCm39) |
Q916L |
probably benign |
Het |
| Mfsd9 |
A |
C |
1: 40,812,940 (GRCm39) |
D458E |
probably benign |
Het |
| Nmb |
T |
C |
7: 80,552,208 (GRCm39) |
I123M |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,329,058 (GRCm39) |
|
probably null |
Het |
| Or10j7 |
A |
T |
1: 173,011,190 (GRCm39) |
D270E |
probably benign |
Het |
| Or4d5 |
A |
G |
9: 40,012,450 (GRCm39) |
I112T |
probably benign |
Het |
| Or4k49 |
T |
A |
2: 111,495,489 (GRCm39) |
M306K |
probably benign |
Het |
| Pola1 |
T |
C |
X: 92,524,145 (GRCm39) |
I1165M |
probably benign |
Het |
| Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
| Selenon |
T |
A |
4: 134,267,037 (GRCm39) |
|
probably benign |
Het |
| Stk39 |
T |
A |
2: 68,144,908 (GRCm39) |
T389S |
possibly damaging |
Het |
| Tmx3 |
A |
G |
18: 90,558,178 (GRCm39) |
E410G |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,584,177 (GRCm39) |
V2660E |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,175,932 (GRCm39) |
L40P |
possibly damaging |
Het |
| Wdr25 |
C |
T |
12: 108,990,953 (GRCm39) |
S380F |
possibly damaging |
Het |
| Xpo7 |
T |
C |
14: 70,909,098 (GRCm39) |
T808A |
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,726,142 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Bmp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Bmp10
|
APN |
6 |
87,406,142 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01483:Bmp10
|
APN |
6 |
87,410,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02132:Bmp10
|
APN |
6 |
87,411,130 (GRCm39) |
missense |
probably benign |
|
|
R1391:Bmp10
|
UTSW |
6 |
87,410,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1472:Bmp10
|
UTSW |
6 |
87,410,779 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1938:Bmp10
|
UTSW |
6 |
87,410,702 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2114:Bmp10
|
UTSW |
6 |
87,411,441 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2158:Bmp10
|
UTSW |
6 |
87,411,062 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4922:Bmp10
|
UTSW |
6 |
87,410,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5042:Bmp10
|
UTSW |
6 |
87,411,039 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6041:Bmp10
|
UTSW |
6 |
87,411,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Bmp10
|
UTSW |
6 |
87,411,175 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7593:Bmp10
|
UTSW |
6 |
87,410,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Bmp10
|
UTSW |
6 |
87,410,541 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8844:Bmp10
|
UTSW |
6 |
87,410,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Bmp10
|
UTSW |
6 |
87,410,684 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Posted On |
2013-04-17 |
Incidental Mutation