Incidental Mutation 'IGL03193:Bmper'
| ID |
412707 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bmper
|
| Ensembl Gene |
ENSMUSG00000031963 |
| Gene Name |
BMP-binding endothelial regulator |
| Synonyms |
Crim3, crossveinless-2, Cv2, CV-2, 3110056H04Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03193
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
23134372-23396496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23277544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 211
(H211Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071982]
|
| AlphaFold |
Q8CJ69 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071982
AA Change: H211Q
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: H211Q
| Domain | Start | End | E-Value | Type |
|---|
|
VWC
|
50 |
105 |
1.57e-2 |
SMART |
|
VWC
|
108 |
163 |
1.89e-1 |
SMART |
|
VWC
|
166 |
224 |
7.27e-7 |
SMART |
|
VWC
|
238 |
289 |
3.34e-6 |
SMART |
|
VWC
|
301 |
357 |
1.7e-7 |
SMART |
|
VWD
|
355 |
513 |
3.75e-41 |
SMART |
|
C8
|
553 |
625 |
1.07e-14 |
SMART |
|
Pfam:TIL
|
629 |
682 |
2.5e-13 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a secreted protein that contains five Von Willebrand factor type C domains and a Von Willebrand factor type D domain and a trypsin inhibitory-like domain. The encoded protein binds to bone morphogenetic proteins (BMP) and regulates their activity. Mutation of the related gene in humans causes diaphanospondylodysostosis. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a knock-out mutation exhibit neonatal lethality associated with abnormal lung and skeleton development. Mice heterozygous for a null allele exhibit abnromal lung development. [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 |
|---|
| A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef12 |
T |
C |
9: 42,903,829 (GRCm39) |
|
probably benign |
Het |
| C130074G19Rik |
A |
T |
1: 184,614,899 (GRCm39) |
L97Q |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,492,626 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
T |
C |
19: 10,559,764 (GRCm39) |
Y30H |
probably benign |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,846 (GRCm39) |
D239V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,925,965 (GRCm39) |
Y3723F |
probably damaging |
Het |
| Frem1 |
C |
T |
4: 82,912,263 (GRCm39) |
|
probably benign |
Het |
| Gm382 |
G |
A |
X: 125,971,321 (GRCm39) |
A1169T |
probably damaging |
Het |
| Golga2 |
T |
C |
2: 32,195,020 (GRCm39) |
L696P |
probably damaging |
Het |
| Gse1 |
G |
T |
8: 121,298,079 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
C |
9: 66,309,962 (GRCm39) |
L1104P |
probably benign |
Het |
| Myh14 |
A |
G |
7: 44,279,369 (GRCm39) |
V945A |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,740,264 (GRCm39) |
F577L |
probably damaging |
Het |
| Ndst2 |
A |
T |
14: 20,779,917 (GRCm39) |
S108T |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Neo1 |
T |
C |
9: 58,815,767 (GRCm39) |
Y836C |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,251 (GRCm39) |
L246P |
probably damaging |
Het |
| Or52n2 |
A |
G |
7: 104,542,263 (GRCm39) |
C191R |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,924,163 (GRCm39) |
S471P |
possibly damaging |
Het |
| Patl1 |
T |
A |
19: 11,898,204 (GRCm39) |
D127E |
possibly damaging |
Het |
| Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
| Prlr |
T |
A |
15: 10,328,376 (GRCm39) |
S284T |
possibly damaging |
Het |
| Prps2 |
A |
T |
X: 166,157,080 (GRCm39) |
N75K |
possibly damaging |
Het |
| Sec16b |
A |
T |
1: 157,362,963 (GRCm39) |
M265L |
probably benign |
Het |
| Slc9a2 |
G |
T |
1: 40,795,431 (GRCm39) |
V511L |
probably benign |
Het |
| Tm9sf5 |
A |
G |
X: 56,463,503 (GRCm39) |
|
probably benign |
Het |
| Tnp1 |
G |
A |
1: 73,054,923 (GRCm39) |
R34W |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,315,831 (GRCm39) |
D2036G |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,803,236 (GRCm39) |
V893A |
possibly damaging |
Het |
| Tshb |
T |
C |
3: 102,685,515 (GRCm39) |
Y38C |
probably damaging |
Het |
| Usp17lb |
A |
T |
7: 104,490,484 (GRCm39) |
S148T |
possibly damaging |
Het |
|
| Other mutations in Bmper |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Bmper
|
APN |
9 |
23,317,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00576:Bmper
|
APN |
9 |
23,317,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01115:Bmper
|
APN |
9 |
23,310,985 (GRCm39) |
intron |
probably benign |
|
|
IGL01978:Bmper
|
APN |
9 |
23,292,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02950:Bmper
|
APN |
9 |
23,310,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4469001:Bmper
|
UTSW |
9 |
23,317,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4531001:Bmper
|
UTSW |
9 |
23,136,113 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0047:Bmper
|
UTSW |
9 |
23,317,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Bmper
|
UTSW |
9 |
23,317,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0173:Bmper
|
UTSW |
9 |
23,136,125 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0504:Bmper
|
UTSW |
9 |
23,317,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Bmper
|
UTSW |
9 |
23,285,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0722:Bmper
|
UTSW |
9 |
23,285,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2254:Bmper
|
UTSW |
9 |
23,292,759 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2255:Bmper
|
UTSW |
9 |
23,292,759 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2863:Bmper
|
UTSW |
9 |
23,395,237 (GRCm39) |
missense |
probably benign |
|
|
R2865:Bmper
|
UTSW |
9 |
23,395,237 (GRCm39) |
missense |
probably benign |
|
|
R3841:Bmper
|
UTSW |
9 |
23,384,727 (GRCm39) |
splice site |
probably null |
|
|
R4056:Bmper
|
UTSW |
9 |
23,310,925 (GRCm39) |
missense |
probably benign |
|
|
R4105:Bmper
|
UTSW |
9 |
23,136,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4108:Bmper
|
UTSW |
9 |
23,136,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4352:Bmper
|
UTSW |
9 |
23,395,248 (GRCm39) |
missense |
probably benign |
|
|
R4824:Bmper
|
UTSW |
9 |
23,134,956 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4909:Bmper
|
UTSW |
9 |
23,289,021 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5356:Bmper
|
UTSW |
9 |
23,285,157 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5379:Bmper
|
UTSW |
9 |
23,208,520 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5666:Bmper
|
UTSW |
9 |
23,384,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Bmper
|
UTSW |
9 |
23,384,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5883:Bmper
|
UTSW |
9 |
23,317,970 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5963:Bmper
|
UTSW |
9 |
23,286,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6312:Bmper
|
UTSW |
9 |
23,318,087 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6768:Bmper
|
UTSW |
9 |
23,292,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6897:Bmper
|
UTSW |
9 |
23,285,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6907:Bmper
|
UTSW |
9 |
23,310,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Bmper
|
UTSW |
9 |
23,310,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Bmper
|
UTSW |
9 |
23,395,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:Bmper
|
UTSW |
9 |
23,286,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7483:Bmper
|
UTSW |
9 |
23,395,238 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7686:Bmper
|
UTSW |
9 |
23,310,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7976:Bmper
|
UTSW |
9 |
23,318,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8345:Bmper
|
UTSW |
9 |
23,136,126 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8905:Bmper
|
UTSW |
9 |
23,318,082 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9096:Bmper
|
UTSW |
9 |
23,134,988 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9260:Bmper
|
UTSW |
9 |
23,318,016 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9642:Bmper
|
UTSW |
9 |
23,395,198 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9751:Bmper
|
UTSW |
9 |
23,318,009 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9758:Bmper
|
UTSW |
9 |
23,286,902 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2016-08-02 |
Incidental Mutation