Incidental Mutation 'IGL01362:Bmp8a'
| ID |
75788 |
| 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 # |
IGL01362
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
123206438-123237045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 123207094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 389
(R389L)
|
| 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: R402L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037779
Gene: ENSMUSG00000032726
AA Change: R402L
| 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: R389L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099701
Gene: ENSMUSG00000032726
AA Change: R389L
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,261,322 (GRCm39) |
D733V |
probably benign |
Het |
| Baz2a |
G |
A |
10: 127,957,833 (GRCm39) |
G1062D |
probably damaging |
Het |
| Ccdc148 |
A |
G |
2: 58,719,811 (GRCm39) |
V488A |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,875,889 (GRCm39) |
I227V |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,069,161 (GRCm39) |
F2509L |
probably damaging |
Het |
| Dusp1 |
A |
G |
17: 26,725,618 (GRCm39) |
I247T |
probably benign |
Het |
| Erich6 |
G |
A |
3: 58,529,781 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
C |
15: 99,178,199 (GRCm39) |
T376A |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,228,072 (GRCm39) |
E570G |
probably damaging |
Het |
| Gm5117 |
G |
T |
8: 32,227,947 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
A |
G |
1: 135,089,216 (GRCm39) |
V283A |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,123,767 (GRCm39) |
|
probably benign |
Het |
| Ifit1bl2 |
G |
A |
19: 34,596,884 (GRCm39) |
T244I |
probably benign |
Het |
| Mcoln1 |
T |
C |
8: 3,557,558 (GRCm39) |
V188A |
possibly damaging |
Het |
| Mon1a |
T |
C |
9: 107,779,883 (GRCm39) |
L484P |
probably damaging |
Het |
| Mrgprg |
T |
A |
7: 143,318,806 (GRCm39) |
D102V |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,360,056 (GRCm39) |
S181R |
probably benign |
Het |
| Myh11 |
C |
T |
16: 14,095,586 (GRCm39) |
V59I |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,746,909 (GRCm39) |
T163I |
probably damaging |
Het |
| Nr4a3 |
A |
C |
4: 48,051,586 (GRCm39) |
Q142H |
possibly damaging |
Het |
| Or14c41 |
A |
T |
7: 86,234,647 (GRCm39) |
T55S |
possibly damaging |
Het |
| Or2a14 |
A |
G |
6: 43,130,569 (GRCm39) |
E110G |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,351,270 (GRCm39) |
I255V |
probably benign |
Het |
| Or8b8 |
A |
G |
9: 37,809,359 (GRCm39) |
I220V |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,748,595 (GRCm39) |
S1859P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,396,378 (GRCm39) |
T1967A |
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,701,795 (GRCm39) |
R349Q |
probably damaging |
Het |
| Ppp2r5d |
A |
G |
17: 46,996,443 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
C |
T |
13: 13,176,828 (GRCm39) |
C33Y |
probably damaging |
Het |
| Prl3d2 |
T |
A |
13: 27,306,438 (GRCm39) |
L55* |
probably null |
Het |
| Ralgapb |
C |
T |
2: 158,277,385 (GRCm39) |
R250C |
probably damaging |
Het |
| Scamp3 |
C |
T |
3: 89,086,441 (GRCm39) |
P63S |
probably benign |
Het |
| Slc22a6 |
A |
G |
19: 8,598,572 (GRCm39) |
I210V |
possibly damaging |
Het |
| Stard13 |
T |
A |
5: 151,113,417 (GRCm39) |
H48L |
probably benign |
Het |
| Tm6sf2 |
G |
A |
8: 70,530,565 (GRCm39) |
R215H |
probably damaging |
Het |
| Twist2 |
T |
C |
1: 91,729,650 (GRCm39) |
L101P |
probably damaging |
Het |
| Uvrag |
A |
G |
7: 98,537,720 (GRCm39) |
S492P |
probably benign |
Het |
| Zan |
T |
C |
5: 137,450,712 (GRCm39) |
T1622A |
unknown |
Het |
| Zswim2 |
T |
A |
2: 83,745,690 (GRCm39) |
T583S |
probably benign |
Het |
|
| Other mutations in Bmp8a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation