Incidental Mutation 'IGL01816:Bmp8a'
| ID |
154395 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bmp8a
|
| Ensembl Gene |
ENSMUSG00000032726 |
| Gene Name |
bone morphogenetic protein 8a |
| Synonyms |
osteogenic protein 2, Bmp7r1, OP2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
IGL01816
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
123206438-123237045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 123210190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 299
(R299C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040496]
[ENSMUST00000102641]
|
| AlphaFold |
P34821 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040496
AA Change: R299C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000037779
Gene: ENSMUSG00000032726
AA Change: R299C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
27 |
248 |
3.1e-67 |
PFAM |
|
low complexity region
|
250 |
271 |
N/A |
INTRINSIC |
|
TGFB
|
298 |
412 |
2.18e-60 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102641
AA Change: R299C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099701
Gene: ENSMUSG00000032726
AA Change: R299C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TGFb_propeptide
|
11 |
248 |
2e-57 |
PFAM |
|
low complexity region
|
250 |
271 |
N/A |
INTRINSIC |
|
TGFB
|
298 |
399 |
2e-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. This protein may play a role in development of the reproductive system. Mice lacking a functional copy of this gene exhibit degeneration of germ cells and the epididymal epithelium. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 4. [provided by RefSeq, Jul 2016]
PHENOTYPE: About half of the males homozygous for targeted mutations of this gene show spermatogenesis defects and germ cell degeneration. [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 |
|---|
| Adgrv1 |
T |
A |
13: 81,677,168 (GRCm39) |
T1888S |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,655,545 (GRCm39) |
V1185A |
probably benign |
Het |
| Cactin |
T |
C |
10: 81,161,699 (GRCm39) |
Y744H |
possibly damaging |
Het |
| Ccr2 |
A |
T |
9: 123,906,235 (GRCm39) |
I172L |
probably benign |
Het |
| Cyp2j11 |
T |
G |
4: 96,183,161 (GRCm39) |
Q469P |
probably damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,767,146 (GRCm39) |
|
probably null |
Het |
| Epb41 |
A |
G |
4: 131,731,006 (GRCm39) |
S192P |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,254,078 (GRCm39) |
Y601* |
probably null |
Het |
| Ift140 |
G |
A |
17: 25,305,999 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
G |
11: 58,886,605 (GRCm39) |
|
probably benign |
Het |
| Or10j27 |
A |
G |
1: 172,957,840 (GRCm39) |
|
probably benign |
Het |
| Pcdhb13 |
A |
C |
18: 37,576,028 (GRCm39) |
R135S |
probably benign |
Het |
| Phtf2 |
A |
T |
5: 21,008,274 (GRCm39) |
W136R |
probably damaging |
Het |
| Prpf40b |
G |
A |
15: 99,213,099 (GRCm39) |
A662T |
probably damaging |
Het |
| Retsat |
A |
G |
6: 72,578,588 (GRCm39) |
N100S |
probably benign |
Het |
| Saxo1 |
T |
A |
4: 86,363,851 (GRCm39) |
M211L |
probably benign |
Het |
| Slc5a9 |
A |
G |
4: 111,755,811 (GRCm39) |
L29P |
probably damaging |
Het |
| St14 |
A |
G |
9: 31,019,563 (GRCm39) |
V86A |
possibly damaging |
Het |
| Tfap4 |
T |
C |
16: 4,369,956 (GRCm39) |
N13S |
probably damaging |
Het |
|
| Other mutations in Bmp8a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Bmp8a
|
APN |
4 |
123,207,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Bmp8a
|
APN |
4 |
123,210,220 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
leanmean
|
UTSW |
4 |
123,207,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Bmp8a
|
UTSW |
4 |
123,210,690 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0540:Bmp8a
|
UTSW |
4 |
123,209,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1443:Bmp8a
|
UTSW |
4 |
123,210,758 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1791:Bmp8a
|
UTSW |
4 |
123,218,378 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1832:Bmp8a
|
UTSW |
4 |
123,218,885 (GRCm39) |
splice site |
probably benign |
|
|
R2215:Bmp8a
|
UTSW |
4 |
123,218,911 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4502:Bmp8a
|
UTSW |
4 |
123,236,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Bmp8a
|
UTSW |
4 |
123,218,362 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5179:Bmp8a
|
UTSW |
4 |
123,207,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5350:Bmp8a
|
UTSW |
4 |
123,207,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6166:Bmp8a
|
UTSW |
4 |
123,218,471 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6853:Bmp8a
|
UTSW |
4 |
123,236,476 (GRCm39) |
missense |
unknown |
|
|
R6982:Bmp8a
|
UTSW |
4 |
123,218,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7304:Bmp8a
|
UTSW |
4 |
123,236,182 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8266:Bmp8a
|
UTSW |
4 |
123,209,626 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8377:Bmp8a
|
UTSW |
4 |
123,236,482 (GRCm39) |
missense |
unknown |
|
|
R8396:Bmp8a
|
UTSW |
4 |
123,218,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation