Incidental Mutation 'R1402:Bves'
| ID |
160410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bves
|
| Ensembl Gene |
ENSMUSG00000071317 |
| Gene Name |
blood vessel epicardial substance |
| Synonyms |
Popdc1, popeye 1 |
| MMRRC Submission |
039464-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1402 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
45211868-45248575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45223961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 207
(T207M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095715]
|
| AlphaFold |
Q9ES83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095715
AA Change: T207M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093382
Gene: ENSMUSG00000071317
AA Change: T207M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Popeye
|
40 |
267 |
3e-90 |
PFAM |
|
low complexity region
|
313 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 96.3%
- 10x: 80.0%
- 20x: 46.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous mutation of this gene results in delayed muscle regeneration following induced injury. Mice homozygous for a knock-out allele exhibit sinus brachycardia in response to physical or mental stress and catecholamines with a compact sinoatrial node. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp8 |
T |
A |
7: 123,065,862 (GRCm39) |
V219E |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,226,676 (GRCm39) |
S409G |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,125,757 (GRCm39) |
T607I |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| H2-T22 |
A |
T |
17: 36,351,161 (GRCm39) |
I307N |
possibly damaging |
Het |
| Itih3 |
T |
C |
14: 30,630,665 (GRCm39) |
D882G |
probably damaging |
Het |
| Kmt5c |
G |
T |
7: 4,745,252 (GRCm39) |
R81L |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Nr1i2 |
A |
G |
16: 38,073,245 (GRCm39) |
S244P |
probably damaging |
Het |
| Pcx |
A |
G |
19: 4,652,058 (GRCm39) |
D101G |
possibly damaging |
Het |
| Prkch |
T |
C |
12: 73,632,163 (GRCm39) |
V76A |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,279,533 (GRCm39) |
Y655C |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,384 (GRCm39) |
K691E |
possibly damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,863,477 (GRCm39) |
T196I |
probably damaging |
Het |
| Trappc13 |
A |
G |
13: 104,286,624 (GRCm39) |
V211A |
probably damaging |
Het |
| Vav1 |
C |
A |
17: 57,610,849 (GRCm39) |
L472I |
probably benign |
Het |
| Wdr25 |
G |
A |
12: 108,992,465 (GRCm39) |
E459K |
probably damaging |
Het |
| Zdbf2 |
A |
T |
1: 63,342,786 (GRCm39) |
E388D |
possibly damaging |
Het |
| Zfp663 |
T |
C |
2: 165,195,890 (GRCm39) |
K110E |
probably benign |
Het |
| Zfp78 |
C |
A |
7: 6,381,618 (GRCm39) |
H223N |
probably damaging |
Het |
|
| Other mutations in Bves |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01128:Bves
|
APN |
10 |
45,229,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01155:Bves
|
APN |
10 |
45,229,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01482:Bves
|
APN |
10 |
45,230,902 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1402:Bves
|
UTSW |
10 |
45,223,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Bves
|
UTSW |
10 |
45,245,377 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1711:Bves
|
UTSW |
10 |
45,223,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Bves
|
UTSW |
10 |
45,223,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Bves
|
UTSW |
10 |
45,219,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3113:Bves
|
UTSW |
10 |
45,219,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3546:Bves
|
UTSW |
10 |
45,230,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4400:Bves
|
UTSW |
10 |
45,245,389 (GRCm39) |
missense |
probably benign |
|
|
R4612:Bves
|
UTSW |
10 |
45,215,373 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4687:Bves
|
UTSW |
10 |
45,230,936 (GRCm39) |
splice site |
probably null |
|
|
R6994:Bves
|
UTSW |
10 |
45,215,514 (GRCm39) |
missense |
probably benign |
|
|
R7052:Bves
|
UTSW |
10 |
45,222,386 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7179:Bves
|
UTSW |
10 |
45,230,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGTGGAGTCTTTAAAACCAGGACA -3'
(R):5'- TCCAGTTGTGGACATACTGTTGAAAGC -3'
Sequencing Primer
(F):5'- CCAGGACAACTCCATTATTGCTATG -3'
(R):5'- CTGTTGAAAGCTGAAAACACTGTTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation