Incidental Mutation 'R0598:Vsnl1'
| ID |
55179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vsnl1
|
| Ensembl Gene |
ENSMUSG00000054459 |
| Gene Name |
visinin-like 1 |
| Synonyms |
VILIP |
| MMRRC Submission |
038787-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.433)
|
| Stock # |
R0598 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
11375258-11486579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11436860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 40
(S40G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072299]
[ENSMUST00000220506]
|
| AlphaFold |
P62761 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072299
AA Change: S40G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072145
Gene: ENSMUSG00000054459
AA Change: S40G
| 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 benign
Transcript: ENSMUST00000220506
AA Change: S40G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,681 (GRCm39) |
E198D |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,087,980 (GRCm39) |
I1049N |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,369,216 (GRCm39) |
N1014K |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,471 (GRCm39) |
E132G |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,740,601 (GRCm39) |
W42R |
probably damaging |
Het |
| Bptf |
G |
T |
11: 106,963,791 (GRCm39) |
T1738K |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
| Cpt2 |
G |
T |
4: 107,764,135 (GRCm39) |
T543N |
probably damaging |
Het |
| Cstdc7 |
T |
A |
18: 42,306,436 (GRCm39) |
M1K |
probably null |
Het |
| Dnah9 |
T |
C |
11: 66,009,703 (GRCm39) |
E728G |
probably benign |
Het |
| Itgbl1 |
A |
G |
14: 124,094,848 (GRCm39) |
H167R |
possibly damaging |
Het |
| Kctd1 |
A |
G |
18: 15,140,822 (GRCm39) |
V40A |
probably damaging |
Het |
| L3mbtl4 |
T |
G |
17: 68,766,768 (GRCm39) |
D158E |
probably benign |
Het |
| Lrp8 |
A |
C |
4: 107,714,434 (GRCm39) |
I603L |
possibly damaging |
Het |
| Lypd8l |
G |
A |
11: 58,499,230 (GRCm39) |
S196L |
probably benign |
Het |
| Mrps9 |
C |
T |
1: 42,944,577 (GRCm39) |
T365I |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,658 (GRCm39) |
T110S |
possibly damaging |
Het |
| Or1e1 |
G |
T |
11: 73,244,729 (GRCm39) |
R50L |
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,230 (GRCm39) |
D309G |
probably benign |
Het |
| Padi1 |
C |
A |
4: 140,542,098 (GRCm39) |
R608L |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,114 (GRCm39) |
F3146L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,439,770 (GRCm39) |
S189P |
probably damaging |
Het |
| Sez6 |
G |
T |
11: 77,868,647 (GRCm39) |
D974Y |
possibly damaging |
Het |
| St3gal3 |
A |
T |
4: 117,964,829 (GRCm39) |
L11Q |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,579,622 (GRCm39) |
E554G |
probably damaging |
Het |
| Tectb |
G |
T |
19: 55,178,018 (GRCm39) |
E170* |
probably null |
Het |
| Themis2 |
A |
T |
4: 132,516,994 (GRCm39) |
C169S |
possibly damaging |
Het |
| Tmem88b |
A |
T |
4: 155,868,824 (GRCm39) |
D141E |
probably benign |
Het |
| Uaca |
T |
A |
9: 60,778,203 (GRCm39) |
Y685* |
probably null |
Het |
| Vxn |
T |
G |
1: 9,690,067 (GRCm39) |
I98S |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,633,465 (GRCm39) |
Q905H |
probably damaging |
Het |
|
| Other mutations in Vsnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Vsnl1
|
APN |
12 |
11,382,190 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCCTTTGCATCAAAACTGCC -3'
(R):5'- TATGCTGCACAGACCTCAGCCTTG -3'
Sequencing Primer
(F):5'- GCATCAAAACTGCCGTTTAAAG -3'
(R):5'- TGAGTTCTGACCGAAAGACC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation