Incidental Mutation 'R6618:Bmp1'
| ID |
524233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bmp1
|
| Ensembl Gene |
ENSMUSG00000022098 |
| Gene Name |
bone morphogenetic protein 1 |
| Synonyms |
|
| MMRRC Submission |
044741-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6618 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70711998-70757674 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70728808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 588
(D588V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022693]
[ENSMUST00000226246]
[ENSMUST00000226906]
[ENSMUST00000227944]
|
| AlphaFold |
P98063 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022693
AA Change: D588V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
AA Change: D588V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
ZnMc
|
131 |
273 |
1.32e-54 |
SMART |
|
CUB
|
327 |
439 |
4.35e-43 |
SMART |
|
CUB
|
440 |
552 |
7.86e-50 |
SMART |
|
EGF_CA
|
552 |
593 |
5.03e-11 |
SMART |
|
CUB
|
596 |
708 |
1.13e-50 |
SMART |
|
EGF_CA
|
708 |
748 |
4.81e-8 |
SMART |
|
CUB
|
752 |
864 |
3.99e-51 |
SMART |
|
CUB
|
865 |
981 |
7.35e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226601
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226906
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228501
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: This gene encodes a metalloproteinase that plays an essential role in the formation of the extracellular matrix and is also able to induce ectopic bone formation. Unlike other bone morphogenetic proteins, the protein encoded by this gene is not closely related to transforming growth factor-beta. This protein plays in role several developmental processes. In humans, mutations in this gene are associated with osteogenesis imperfecta and with increased bone mineral density and multiple recurrent fractures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous targeted mutant embryos have reduced ossification of the skull, persistent herniation of the gut, abnormal collagen fibrils in the amnion, and die at birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1b2 |
T |
C |
11: 69,494,289 (GRCm39) |
D68G |
probably damaging |
Het |
| Barx2 |
G |
A |
9: 31,758,168 (GRCm39) |
L257F |
probably benign |
Het |
| Bbx |
C |
G |
16: 50,086,626 (GRCm39) |
W90S |
probably damaging |
Het |
| Caskin2 |
C |
T |
11: 115,690,855 (GRCm39) |
M1188I |
possibly damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,950,708 (GRCm39) |
I1651N |
probably damaging |
Het |
| Cimip2a |
C |
A |
2: 25,110,635 (GRCm39) |
L148M |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,839,687 (GRCm39) |
D580G |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,209,069 (GRCm39) |
|
probably null |
Het |
| Fam83h |
T |
C |
15: 75,875,360 (GRCm39) |
D659G |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,126 (GRCm39) |
T477A |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,945,528 (GRCm39) |
R589L |
probably benign |
Het |
| Helz |
A |
G |
11: 107,489,976 (GRCm39) |
T144A |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,339,971 (GRCm39) |
V258D |
probably damaging |
Het |
| Isoc2a |
A |
T |
7: 4,898,325 (GRCm39) |
I183F |
probably benign |
Het |
| Kat2a |
G |
T |
11: 100,603,196 (GRCm39) |
|
probably benign |
Het |
| Klf9 |
A |
G |
19: 23,142,235 (GRCm39) |
M232V |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,377,973 (GRCm39) |
S147R |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,781 (GRCm39) |
F337L |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,240,708 (GRCm39) |
N1466I |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,182,919 (GRCm39) |
|
probably null |
Het |
| Pigs |
T |
C |
11: 78,232,056 (GRCm39) |
L396P |
probably damaging |
Het |
| Prkcb |
G |
A |
7: 122,226,886 (GRCm39) |
R624Q |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,121,302 (GRCm39) |
S269P |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,875 (GRCm39) |
I505K |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,440,523 (GRCm39) |
D777E |
probably benign |
Het |
| Rdh14 |
A |
G |
12: 10,445,123 (GRCm39) |
I325V |
probably benign |
Het |
| Rpn2 |
T |
A |
2: 157,163,781 (GRCm39) |
H624Q |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,381,394 (GRCm39) |
S50N |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,683,772 (GRCm39) |
|
probably null |
Het |
| Slc49a3 |
G |
T |
5: 108,590,964 (GRCm39) |
T400K |
probably benign |
Het |
| Smim24 |
A |
G |
10: 81,229,966 (GRCm39) |
N27S |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,162,444 (GRCm39) |
D550G |
probably damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,322,349 (GRCm39) |
L23* |
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,694,844 (GRCm39) |
K703N |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,121,477 (GRCm39) |
S139P |
probably benign |
Homo |
|
| Other mutations in Bmp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01637:Bmp1
|
APN |
14 |
70,729,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Bmp1
|
APN |
14 |
70,727,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02065:Bmp1
|
APN |
14 |
70,723,660 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02349:Bmp1
|
APN |
14 |
70,744,989 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02486:Bmp1
|
APN |
14 |
70,742,216 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
PIT4519001:Bmp1
|
UTSW |
14 |
70,727,469 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0394:Bmp1
|
UTSW |
14 |
70,727,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1371:Bmp1
|
UTSW |
14 |
70,729,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1604:Bmp1
|
UTSW |
14 |
70,745,444 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1732:Bmp1
|
UTSW |
14 |
70,723,705 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1834:Bmp1
|
UTSW |
14 |
70,746,271 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2008:Bmp1
|
UTSW |
14 |
70,729,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2197:Bmp1
|
UTSW |
14 |
70,723,712 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3157:Bmp1
|
UTSW |
14 |
70,729,547 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4397:Bmp1
|
UTSW |
14 |
70,727,982 (GRCm39) |
splice site |
probably null |
|
|
R4609:Bmp1
|
UTSW |
14 |
70,715,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4613:Bmp1
|
UTSW |
14 |
70,745,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Bmp1
|
UTSW |
14 |
70,730,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4796:Bmp1
|
UTSW |
14 |
70,729,513 (GRCm39) |
splice site |
probably null |
|
|
R4884:Bmp1
|
UTSW |
14 |
70,712,655 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4905:Bmp1
|
UTSW |
14 |
70,728,802 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5088:Bmp1
|
UTSW |
14 |
70,723,659 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5225:Bmp1
|
UTSW |
14 |
70,717,605 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5271:Bmp1
|
UTSW |
14 |
70,745,568 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5625:Bmp1
|
UTSW |
14 |
70,723,606 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5653:Bmp1
|
UTSW |
14 |
70,727,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6155:Bmp1
|
UTSW |
14 |
70,745,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6295:Bmp1
|
UTSW |
14 |
70,728,823 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6649:Bmp1
|
UTSW |
14 |
70,728,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6653:Bmp1
|
UTSW |
14 |
70,728,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6951:Bmp1
|
UTSW |
14 |
70,746,298 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6983:Bmp1
|
UTSW |
14 |
70,745,647 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7207:Bmp1
|
UTSW |
14 |
70,717,000 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7500:Bmp1
|
UTSW |
14 |
70,727,562 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7716:Bmp1
|
UTSW |
14 |
70,715,362 (GRCm39) |
nonsense |
probably null |
|
|
R7749:Bmp1
|
UTSW |
14 |
70,730,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Bmp1
|
UTSW |
14 |
70,729,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Bmp1
|
UTSW |
14 |
70,746,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8232:Bmp1
|
UTSW |
14 |
70,757,329 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8490:Bmp1
|
UTSW |
14 |
70,727,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8827:Bmp1
|
UTSW |
14 |
70,728,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Bmp1
|
UTSW |
14 |
70,727,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Bmp1
|
UTSW |
14 |
70,727,613 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9228:Bmp1
|
UTSW |
14 |
70,757,338 (GRCm39) |
missense |
probably benign |
|
|
R9621:Bmp1
|
UTSW |
14 |
70,715,306 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9652:Bmp1
|
UTSW |
14 |
70,715,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Bmp1
|
UTSW |
14 |
70,745,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATCACACCCTGCCAGTG -3'
(R):5'- ACTCCTCTCTGCAACATGGG -3'
Sequencing Primer
(F):5'- ACACCCTGCCAGTGTTCTG -3'
(R):5'- GGGCCATAGGAACTTGAACCTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation