Incidental Mutation 'IGL00553:Vsnl1'
| ID |
4437 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vsnl1
|
| Ensembl Gene |
ENSMUSG00000054459 |
| Gene Name |
visinin-like 1 |
| Synonyms |
VILIP |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.413)
|
| Stock # |
IGL00553
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
11375258-11486579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11382190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 64
(F64L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072299]
[ENSMUST00000220506]
|
| AlphaFold |
P62761 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072299
AA Change: F64L
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072145
Gene: ENSMUSG00000054459
AA Change: F64L
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
64 |
92 |
2.13e-5 |
SMART |
|
EFh
|
100 |
128 |
5.24e-5 |
SMART |
|
EFh
|
150 |
178 |
2.09e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220506
AA Change: F64L
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| 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 is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,457,453 (GRCm39) |
I234V |
probably benign |
Het |
| Arid4a |
T |
C |
12: 71,122,751 (GRCm39) |
L1044P |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,114,518 (GRCm39) |
D1035E |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,946,105 (GRCm39) |
T2263I |
possibly damaging |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Glipr1 |
T |
C |
10: 111,822,574 (GRCm39) |
N47S |
possibly damaging |
Het |
| Ifi35 |
A |
G |
11: 101,348,152 (GRCm39) |
E86G |
probably damaging |
Het |
| Mx1 |
T |
A |
16: 97,258,632 (GRCm39) |
I22F |
probably damaging |
Het |
| Nr2f1 |
A |
G |
13: 78,346,361 (GRCm39) |
V111A |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,202,008 (GRCm39) |
E524V |
probably benign |
Het |
| Rspo3 |
A |
G |
10: 29,330,148 (GRCm39) |
|
probably benign |
Het |
| Setdb2 |
C |
T |
14: 59,653,241 (GRCm39) |
V354M |
probably damaging |
Het |
| Slc28a3 |
A |
G |
13: 58,710,823 (GRCm39) |
|
probably null |
Het |
| Stau1 |
T |
C |
2: 166,793,254 (GRCm39) |
K294E |
possibly damaging |
Het |
| Susd3 |
A |
T |
13: 49,384,614 (GRCm39) |
*270R |
probably null |
Het |
| Ttc39b |
T |
C |
4: 83,162,276 (GRCm39) |
|
probably benign |
Het |
| Usf1 |
T |
C |
1: 171,244,843 (GRCm39) |
V169A |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,600,480 (GRCm39) |
L1077P |
probably damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,572,494 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Vsnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02285:Vsnl1
|
APN |
12 |
11,436,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02610:Vsnl1
|
APN |
12 |
11,382,072 (GRCm39) |
nonsense |
probably null |
|
|
PIT4696001:Vsnl1
|
UTSW |
12 |
11,376,448 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0055:Vsnl1
|
UTSW |
12 |
11,436,987 (GRCm39) |
splice site |
probably null |
|
|
R0598:Vsnl1
|
UTSW |
12 |
11,436,860 (GRCm39) |
missense |
probably benign |
|
|
R0909:Vsnl1
|
UTSW |
12 |
11,376,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1444:Vsnl1
|
UTSW |
12 |
11,382,219 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4256:Vsnl1
|
UTSW |
12 |
11,382,056 (GRCm39) |
nonsense |
probably null |
|
|
R6315:Vsnl1
|
UTSW |
12 |
11,382,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Vsnl1
|
UTSW |
12 |
11,382,219 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6582:Vsnl1
|
UTSW |
12 |
11,376,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7422:Vsnl1
|
UTSW |
12 |
11,376,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7909:Vsnl1
|
UTSW |
12 |
11,376,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7919:Vsnl1
|
UTSW |
12 |
11,382,087 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8772:Vsnl1
|
UTSW |
12 |
11,382,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation