Incidental Mutation 'IGL01978:Bmper'
| ID |
181761 |
| 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 # |
IGL01978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
23134372-23396496 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23292737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 349
(N349Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071982]
|
| AlphaFold |
Q8CJ69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071982
AA Change: N349Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071872
Gene: ENSMUSG00000031963
AA Change: N349Y
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000214050
AA Change: N90Y
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,453,164 (GRCm39) |
T6S |
probably damaging |
Het |
| Acot5 |
T |
C |
12: 84,122,172 (GRCm39) |
V252A |
possibly damaging |
Het |
| Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
G |
A |
4: 120,901,863 (GRCm39) |
G139E |
unknown |
Het |
| Cplane1 |
A |
T |
15: 8,248,866 (GRCm39) |
N1805I |
probably damaging |
Het |
| Cyp2j8 |
A |
C |
4: 96,392,246 (GRCm39) |
|
probably null |
Het |
| Dcbld2 |
A |
G |
16: 58,284,682 (GRCm39) |
D612G |
probably benign |
Het |
| Dsc3 |
C |
T |
18: 20,107,253 (GRCm39) |
R456Q |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,160,972 (GRCm39) |
T3253A |
probably benign |
Het |
| Hoxc12 |
T |
A |
15: 102,845,299 (GRCm39) |
H4Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,633,891 (GRCm39) |
E445G |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,678,787 (GRCm39) |
E937G |
probably benign |
Het |
| Kif5a |
A |
C |
10: 127,081,608 (GRCm39) |
D185E |
probably benign |
Het |
| Klhl38 |
T |
C |
15: 58,178,485 (GRCm39) |
D495G |
probably damaging |
Het |
| Klra5 |
A |
G |
6: 129,888,393 (GRCm39) |
V11A |
probably benign |
Het |
| Lrch1 |
G |
A |
14: 75,023,782 (GRCm39) |
T581M |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,017,315 (GRCm39) |
I450T |
probably damaging |
Het |
| Mrgprb2 |
C |
A |
7: 48,202,312 (GRCm39) |
V138L |
probably damaging |
Het |
| Muc15 |
G |
A |
2: 110,561,941 (GRCm39) |
A126T |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,367,632 (GRCm39) |
I522K |
probably damaging |
Het |
| Nectin1 |
G |
A |
9: 43,703,444 (GRCm39) |
R234H |
probably damaging |
Het |
| Or5b98 |
T |
C |
19: 12,931,406 (GRCm39) |
F151S |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,630 (GRCm39) |
I271K |
probably benign |
Het |
| Pdia6 |
T |
A |
12: 17,324,423 (GRCm39) |
H91Q |
possibly damaging |
Het |
| Pfkfb4 |
A |
T |
9: 108,858,010 (GRCm39) |
H445L |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,911,336 (GRCm39) |
T314A |
unknown |
Het |
| Rb1cc1 |
A |
G |
1: 6,308,592 (GRCm39) |
D159G |
probably damaging |
Het |
| Rhoh |
T |
A |
5: 66,050,031 (GRCm39) |
S100R |
probably benign |
Het |
| Rsbn1 |
T |
A |
3: 103,868,816 (GRCm39) |
D618E |
probably damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,817,116 (GRCm39) |
V4A |
probably damaging |
Het |
| Svs3b |
T |
A |
2: 164,098,541 (GRCm39) |
M1L |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,331,005 (GRCm39) |
N1379S |
probably benign |
Het |
| Tmed3 |
T |
C |
9: 89,586,806 (GRCm39) |
D58G |
probably benign |
Het |
| Trh |
G |
A |
6: 92,219,596 (GRCm39) |
A240V |
probably benign |
Het |
| Ubox5 |
A |
T |
2: 130,442,372 (GRCm39) |
V105E |
probably benign |
Het |
| Vmn2r67 |
A |
G |
7: 84,800,649 (GRCm39) |
|
probably null |
Het |
| Vps13c |
A |
G |
9: 67,837,925 (GRCm39) |
H1825R |
probably benign |
Het |
| Wasf1 |
C |
A |
10: 40,812,197 (GRCm39) |
P329T |
unknown |
Het |
| Wee2 |
T |
C |
6: 40,432,087 (GRCm39) |
F219L |
probably damaging |
Het |
| Zp3r |
T |
C |
1: 130,526,678 (GRCm39) |
D175G |
probably 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 |
|
|
IGL02950:Bmper
|
APN |
9 |
23,310,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03193:Bmper
|
APN |
9 |
23,277,544 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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 |
2014-05-07 |
Incidental Mutation