Incidental Mutation 'IGL02977:Bmp5'
| ID |
406435 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bmp5
|
| Ensembl Gene |
ENSMUSG00000032179 |
| Gene Name |
bone morphogenetic protein 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.582)
|
| Stock # |
IGL02977
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
75682646-75807592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75801081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 404
(T404A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012281]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012281
AA Change: T404A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000012281
Gene: ENSMUSG00000032179
AA Change: T404A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180749
|
| 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, 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
C |
T |
8: 125,587,930 (GRCm39) |
V57M |
probably benign |
Het |
| 4933440M02Rik |
T |
A |
7: 124,930,874 (GRCm39) |
|
noncoding transcript |
Het |
| Cep192 |
T |
C |
18: 67,985,976 (GRCm39) |
V1660A |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,387,069 (GRCm39) |
Y2121* |
probably null |
Het |
| Daam1 |
G |
A |
12: 71,990,946 (GRCm39) |
A187T |
unknown |
Het |
| Dnaja4 |
T |
C |
9: 54,621,794 (GRCm39) |
L343P |
possibly damaging |
Het |
| Dym |
T |
C |
18: 75,196,246 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
T |
1: 164,021,590 (GRCm39) |
D1355V |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,863,797 (GRCm39) |
T2523M |
possibly damaging |
Het |
| Gcnt1 |
A |
T |
19: 17,306,738 (GRCm39) |
I329N |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,134,768 (GRCm39) |
|
noncoding transcript |
Het |
| Hdgfl2 |
A |
G |
17: 56,406,319 (GRCm39) |
N569S |
possibly damaging |
Het |
| Hivep1 |
T |
C |
13: 42,309,412 (GRCm39) |
S551P |
possibly damaging |
Het |
| Hpse2 |
G |
A |
19: 42,777,561 (GRCm39) |
|
probably benign |
Het |
| Hspe1 |
T |
C |
1: 55,130,232 (GRCm39) |
Y88H |
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,445,016 (GRCm39) |
M312K |
probably benign |
Het |
| Lrp1b |
T |
G |
2: 40,620,747 (GRCm39) |
D3577A |
probably damaging |
Het |
| Mapk13 |
G |
T |
17: 28,995,322 (GRCm39) |
G181V |
probably damaging |
Het |
| Oprl1 |
G |
T |
2: 181,360,304 (GRCm39) |
C115F |
probably damaging |
Het |
| Or4d1 |
A |
G |
11: 87,804,956 (GRCm39) |
S259P |
possibly damaging |
Het |
| Or5d37 |
T |
C |
2: 87,923,915 (GRCm39) |
I122V |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,453,524 (GRCm39) |
D112G |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,265,599 (GRCm39) |
I395N |
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,674,120 (GRCm39) |
S823P |
probably benign |
Het |
| Slc9b1 |
T |
C |
3: 135,103,484 (GRCm39) |
L538P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,422,235 (GRCm39) |
Y216N |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tonsl |
T |
A |
15: 76,517,073 (GRCm39) |
Q882L |
probably benign |
Het |
| Trav13-2 |
C |
T |
14: 53,872,764 (GRCm39) |
T80I |
probably damaging |
Het |
| Uaca |
C |
T |
9: 60,773,662 (GRCm39) |
P388S |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,607,748 (GRCm39) |
R439G |
possibly damaging |
Het |
| Vmn2r18 |
C |
A |
5: 151,510,149 (GRCm39) |
A75S |
probably damaging |
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 |
|
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 |
|
RF053:Bmp5
|
UTSW |
9 |
75,683,656 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation