Incidental Mutation 'RF053:Bmp5'
| ID |
605185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp5
|
| Ensembl Gene |
ENSMUSG00000032179 |
| Gene Name |
bone morphogenetic protein 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.582)
|
| Stock # |
RF053 (G1)
|
| Quality Score |
214.472 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
75682646-75807592 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
TGAGGAG to T
at 75683656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012281]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012281
|
| SMART Domains |
Protein: ENSMUSP00000012281
Gene: ENSMUSG00000032179
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
31 |
304 |
5.2e-94 |
PFAM |
|
low complexity region
|
316 |
331 |
N/A |
INTRINSIC |
|
TGFB
|
353 |
454 |
3.54e-69 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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, which plays a role in bone and cartilage development. Mice with null mutations in this gene exhibit a short ear phenotype, which is characterized by reduced size of the external ear, altered size and shape of the sternum, and other skeletal and soft-tissue abnormalities. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous recessive mutants have shortened, slightly ruffled external ears due to a defective cartilage framework affecting the whole skeleton; a series of genomic deletions of the region cause embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGGCTGCTG |
TGGCTGCTGGGGCTGCTG |
1: 82,891,294 (GRCm39) |
|
probably benign |
Het |
| Abra |
TGGC |
T |
15: 41,729,695 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCCTCCTCCTC |
CTCCTCCTCCTCATCCTCCTCCTC |
7: 80,162,669 (GRCm39) |
|
probably benign |
Het |
| Cngb1 |
GGCTCTGGCTCTGGCTCTGGCTCTG |
GG |
8: 96,030,276 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
GGATGTGACAGACACACTGCCCAG |
GGATGTGACAGACACACTGCCCAGCGATGTGACAGACACACTGCCCAG |
9: 86,922,475 (GRCm39) |
|
probably benign |
Het |
| Ehbp1l1 |
TCACACCACC |
T |
19: 5,766,030 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
TTTTT |
TTTTTT |
6: 71,609,033 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAGCCACCACAGC |
CAGCCACCACAGCCAAAGCCACCACAGC |
1: 83,019,999 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CA |
CAGAA |
X: 70,162,458 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,771 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,414 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTCACCT |
GACTTGGCCTCACCTCACCACTTGGCCTCACCT |
11: 4,891,014 (GRCm39) |
|
probably null |
Het |
| Polr1has |
CACCAC |
CACCACCACCACCACCACCTCTACCAC |
17: 37,275,958 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
TCATTTATTATGACCATAC |
TC |
3: 138,647,418 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
C |
CAGA |
18: 60,968,819 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCCGC |
17: 48,097,039 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCT |
TGCTGCTGCTGCTGCGGCT |
15: 72,673,177 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
CTCATGTGACCTGTTCTTCACTTAA |
9: 44,000,426 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
CCCACCACCACAACCACCACCACCACCACCAC |
CCCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 24,899,735 (GRCm39) |
|
probably benign |
Het |
| Zfp69 |
GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGATGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC |
GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC |
4: 120,804,544 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Bmp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01643:Bmp5
|
APN |
9 |
75,746,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Bmp5
|
APN |
9 |
75,805,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02977:Bmp5
|
APN |
9 |
75,801,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4976:Bmp5
|
UTSW |
9 |
75,683,657 (GRCm39) |
small deletion |
probably benign |
|
|
R1291:Bmp5
|
UTSW |
9 |
75,793,955 (GRCm39) |
nonsense |
probably null |
|
|
R1679:Bmp5
|
UTSW |
9 |
75,746,877 (GRCm39) |
missense |
probably benign |
|
|
R2049:Bmp5
|
UTSW |
9 |
75,801,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2278:Bmp5
|
UTSW |
9 |
75,683,830 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5159:Bmp5
|
UTSW |
9 |
75,801,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5431:Bmp5
|
UTSW |
9 |
75,800,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Bmp5
|
UTSW |
9 |
75,683,649 (GRCm39) |
missense |
probably benign |
|
|
R5884:Bmp5
|
UTSW |
9 |
75,805,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Bmp5
|
UTSW |
9 |
75,683,375 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
|
R7346:Bmp5
|
UTSW |
9 |
75,780,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Bmp5
|
UTSW |
9 |
75,683,384 (GRCm39) |
missense |
probably benign |
|
|
R7736:Bmp5
|
UTSW |
9 |
75,801,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Bmp5
|
UTSW |
9 |
75,683,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8462:Bmp5
|
UTSW |
9 |
75,746,874 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8955:Bmp5
|
UTSW |
9 |
75,805,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Bmp5
|
UTSW |
9 |
75,780,579 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9281:Bmp5
|
UTSW |
9 |
75,683,856 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9766:Bmp5
|
UTSW |
9 |
75,800,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGCTTGGGAGACAATCAC -3'
(R):5'- AAGCTCATGACCATGTCAGCATC -3'
Sequencing Primer
(F):5'- TTGGGAGACAATCACGTTCACTC -3'
(R):5'- TGACCATGTCAGCATCATTCAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation