Incidental Mutation 'R5179:Bmp8a'
| ID |
399373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp8a
|
| Ensembl Gene |
ENSMUSG00000032726 |
| Gene Name |
bone morphogenetic protein 8a |
| Synonyms |
osteogenic protein 2, Bmp7r1, OP2 |
| MMRRC Submission |
042759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R5179 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
123206438-123237045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 123207094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 389
(R389H)
|
| 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: R402H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037779
Gene: ENSMUSG00000032726
AA Change: R402H
| 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: R389H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099701
Gene: ENSMUSG00000032726
AA Change: R389H
| 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 |
|
| Meta Mutation Damage Score |
0.1039 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (37/38) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B9d2 |
C |
A |
7: 25,380,826 (GRCm39) |
H5Q |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,642,169 (GRCm39) |
I371T |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,845,563 (GRCm39) |
N326K |
possibly damaging |
Het |
| Ccdc154 |
A |
G |
17: 25,390,137 (GRCm39) |
N545S |
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,601,308 (GRCm39) |
S359T |
possibly damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,299 (GRCm39) |
T248S |
possibly damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,363,759 (GRCm39) |
I4107T |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,479,936 (GRCm39) |
H488L |
probably damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,063,181 (GRCm39) |
V503A |
probably benign |
Het |
| Exd2 |
G |
T |
12: 80,531,118 (GRCm39) |
W105L |
probably damaging |
Het |
| Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,789,448 (GRCm39) |
C251* |
probably null |
Het |
| Ifit2 |
C |
A |
19: 34,550,976 (GRCm39) |
P172Q |
probably damaging |
Het |
| Incenp |
G |
C |
19: 9,872,273 (GRCm39) |
Q62E |
unknown |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lrg1 |
A |
G |
17: 56,427,795 (GRCm39) |
L59P |
possibly damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,190,879 (GRCm39) |
E145G |
possibly damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,299,682 (GRCm39) |
D346G |
probably benign |
Het |
| Or4m1 |
G |
A |
14: 50,557,993 (GRCm39) |
Q100* |
probably null |
Het |
| Or56b1b |
T |
C |
7: 108,164,433 (GRCm39) |
I190V |
probably benign |
Het |
| Osbpl8 |
T |
G |
10: 111,108,025 (GRCm39) |
D298E |
probably benign |
Het |
| Pcna-ps2 |
T |
C |
19: 9,260,891 (GRCm39) |
L50P |
probably damaging |
Het |
| Ptgir |
C |
T |
7: 16,641,253 (GRCm39) |
P182S |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,825,421 (GRCm39) |
Y1653C |
probably damaging |
Het |
| Sgcd |
T |
A |
11: 46,871,711 (GRCm39) |
E208V |
probably benign |
Het |
| Slc7a8 |
A |
T |
14: 54,962,289 (GRCm39) |
C448* |
probably null |
Het |
| Sos2 |
G |
A |
12: 69,697,502 (GRCm39) |
R73* |
probably null |
Het |
| Tecpr2 |
A |
G |
12: 110,911,127 (GRCm39) |
T1055A |
possibly damaging |
Het |
| Usp47 |
T |
C |
7: 111,692,639 (GRCm39) |
Y1014H |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,411 (GRCm39) |
F682L |
probably benign |
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 |
|
IGL01816:Bmp8a
|
APN |
4 |
123,210,190 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTTAGCAGGAAGTGGCCAG -3'
(R):5'- CTTCTGGAAAGGAACAAGCG -3'
Sequencing Primer
(F):5'- GGGGAAGTGAAGGGCCTCC -3'
(R):5'- ACCCTGAGGCTTTGCTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation