Incidental Mutation 'R8396:Bmp8a'
| ID |
647599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp8a
|
| Ensembl Gene |
ENSMUSG00000032726 |
| Gene Name |
bone morphogenetic protein 8a |
| Synonyms |
osteogenic protein 2, Bmp7r1, OP2 |
| MMRRC Submission |
067812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R8396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
123206438-123237045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123218952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 152
(H152R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040496]
[ENSMUST00000102640]
[ENSMUST00000102641]
|
| AlphaFold |
P34821 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040496
AA Change: H152R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000037779
Gene: ENSMUSG00000032726
AA Change: H152R
| 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 benign
Transcript: ENSMUST00000102640
|
| SMART Domains |
Protein: ENSMUSP00000099700
Gene: ENSMUSG00000076436
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
CoA_trans
|
43 |
272 |
2.17e-79 |
SMART |
|
CoA_trans
|
301 |
499 |
5.07e-71 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102641
AA Change: H152R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099701
Gene: ENSMUSG00000032726
AA Change: H152R
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
A |
G |
10: 18,528,280 (GRCm39) |
|
probably null |
Het |
| Arid1a |
T |
C |
4: 133,479,973 (GRCm39) |
Y317C |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,552,220 (GRCm39) |
T1321A |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,504,931 (GRCm39) |
Y129C |
probably damaging |
Het |
| Birc2 |
A |
G |
9: 7,834,301 (GRCm39) |
V60A |
probably benign |
Het |
| C3 |
T |
C |
17: 57,528,029 (GRCm39) |
H730R |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,289,088 (GRCm39) |
V417E |
probably benign |
Het |
| Cfap58 |
T |
A |
19: 48,017,540 (GRCm39) |
M800K |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,780,627 (GRCm39) |
L352P |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,840,376 (GRCm39) |
L522P |
probably damaging |
Het |
| Ctcf |
T |
A |
8: 106,393,379 (GRCm39) |
H347Q |
possibly damaging |
Het |
| Gm13271 |
A |
T |
4: 88,673,318 (GRCm39) |
M72L |
probably benign |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
| Irx5 |
G |
A |
8: 93,086,962 (GRCm39) |
G298D |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,539,670 (GRCm39) |
I361T |
possibly damaging |
Het |
| Lsm11 |
G |
A |
11: 45,835,591 (GRCm39) |
A50V |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,621 (GRCm39) |
K700R |
unknown |
Het |
| Muc5b |
A |
T |
7: 141,405,552 (GRCm39) |
T954S |
unknown |
Het |
| Nhsl1 |
A |
G |
10: 18,400,910 (GRCm39) |
N678S |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,221,377 (GRCm39) |
I277N |
possibly damaging |
Het |
| Ntsr2 |
A |
G |
12: 16,706,821 (GRCm39) |
H283R |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,893,829 (GRCm39) |
I6746N |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,480,350 (GRCm39) |
T425A |
probably benign |
Het |
| Pag1 |
T |
A |
3: 9,759,112 (GRCm39) |
E335D |
probably benign |
Het |
| Parp3 |
T |
A |
9: 106,351,447 (GRCm39) |
Q223L |
probably benign |
Het |
| Pogz |
T |
C |
3: 94,786,061 (GRCm39) |
V883A |
probably benign |
Het |
| Rsbn1l |
A |
T |
5: 21,132,665 (GRCm39) |
M198K |
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,007,680 (GRCm39) |
|
probably null |
Het |
| Shc4 |
A |
G |
2: 125,471,617 (GRCm39) |
I600T |
probably damaging |
Het |
| Slc26a1 |
T |
C |
5: 108,821,715 (GRCm39) |
H74R |
probably benign |
Het |
| Slc7a11 |
A |
C |
3: 50,338,578 (GRCm39) |
I277S |
possibly damaging |
Het |
| Tep1 |
G |
T |
14: 51,074,529 (GRCm39) |
T1832N |
probably benign |
Het |
| Terf2 |
A |
G |
8: 107,809,613 (GRCm39) |
|
probably null |
Het |
| Tle4 |
G |
A |
19: 14,432,323 (GRCm39) |
Q458* |
probably null |
Het |
| Trim34b |
A |
T |
7: 103,979,083 (GRCm39) |
D110V |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,308,034 (GRCm39) |
N2267K |
possibly damaging |
Het |
| Vmn2r50 |
G |
A |
7: 9,781,639 (GRCm39) |
Q369* |
probably null |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp229 |
T |
C |
17: 21,965,077 (GRCm39) |
S436P |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCAAACCCCTTTCTCATG -3'
(R):5'- AGCCTGTGTGTAGAGAAAGC -3'
Sequencing Primer
(F):5'- TCATGTCTGAGGCCCCTC -3'
(R):5'- GGTCCTACTCTGAGCACAAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation