Incidental Mutation 'IGL01128:Bves'
| ID |
52141 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bves
|
| Ensembl Gene |
ENSMUSG00000071317 |
| Gene Name |
blood vessel epicardial substance |
| Synonyms |
Popdc1, popeye 1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01128
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
45211868-45248575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45229944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 249
(F249L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095715]
|
| AlphaFold |
Q9ES83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095715
AA Change: F249L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093382
Gene: ENSMUSG00000071317
AA Change: F249L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213557
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,950,332 (GRCm39) |
T128A |
probably benign |
Het |
| Capns1 |
T |
C |
7: 29,889,558 (GRCm39) |
I214V |
probably benign |
Het |
| Cgnl1 |
G |
T |
9: 71,631,843 (GRCm39) |
Q503K |
possibly damaging |
Het |
| Ep300 |
A |
G |
15: 81,514,207 (GRCm39) |
|
probably benign |
Het |
| Fam117b |
T |
A |
1: 60,008,177 (GRCm39) |
F337Y |
probably damaging |
Het |
| Fam178b |
A |
T |
1: 36,683,435 (GRCm39) |
V95E |
probably damaging |
Het |
| Gak |
T |
A |
5: 108,740,236 (GRCm39) |
M560L |
probably damaging |
Het |
| Gna11 |
C |
A |
10: 81,366,718 (GRCm39) |
A331S |
probably damaging |
Het |
| Gtf3c3 |
A |
C |
1: 54,468,035 (GRCm39) |
F201V |
possibly damaging |
Het |
| Kat6b |
G |
A |
14: 21,710,928 (GRCm39) |
R734H |
probably benign |
Het |
| Lag3 |
T |
C |
6: 124,886,380 (GRCm39) |
D191G |
probably damaging |
Het |
| Mttp |
T |
A |
3: 137,839,758 (GRCm39) |
|
probably null |
Het |
| Nlgn3 |
A |
T |
X: 100,363,698 (GRCm39) |
T790S |
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,406 (GRCm39) |
D179G |
probably damaging |
Het |
| Or5b123 |
G |
A |
19: 13,597,110 (GRCm39) |
E195K |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,550,068 (GRCm39) |
Y238N |
probably damaging |
Het |
| Plg |
A |
T |
17: 12,615,586 (GRCm39) |
|
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,349,096 (GRCm39) |
C376S |
probably damaging |
Het |
| Rexo1 |
T |
C |
10: 80,385,573 (GRCm39) |
D495G |
probably benign |
Het |
| Rims1 |
A |
T |
1: 22,573,256 (GRCm39) |
V315D |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 52,018,424 (GRCm39) |
Q745* |
probably null |
Het |
| Satb1 |
A |
G |
17: 52,112,317 (GRCm39) |
V99A |
probably damaging |
Het |
| Sema3e |
C |
T |
5: 14,282,129 (GRCm39) |
P422S |
probably damaging |
Het |
| Stkld1 |
G |
T |
2: 26,841,483 (GRCm39) |
W476L |
probably benign |
Het |
| Syna |
T |
C |
5: 134,588,334 (GRCm39) |
D205G |
probably damaging |
Het |
| Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,027,650 (GRCm39) |
T880A |
probably benign |
Het |
| Uckl1 |
T |
C |
2: 181,212,130 (GRCm39) |
E363G |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 19,980,718 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Bves |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation