Incidental Mutation 'R4256:Vsnl1'
ID 321827
Institutional Source Beutler Lab
Gene Symbol Vsnl1
Ensembl Gene ENSMUSG00000054459
Gene Name visinin-like 1
Synonyms VILIP
MMRRC Submission 041069-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.413) question?
Stock # R4256 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 11375258-11486579 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 11382056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 108 (Y108*)
Ref Sequence ENSEMBL: ENSMUSP00000152711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072299] [ENSMUST00000220506]
AlphaFold P62761
Predicted Effect probably null
Transcript: ENSMUST00000072299
AA Change: Y108*
SMART Domains Protein: ENSMUSP00000072145
Gene: ENSMUSG00000054459
AA Change: Y108*

DomainStartEndE-ValueType
EFh 64 92 2.13e-5 SMART
EFh 100 128 5.24e-5 SMART
EFh 150 178 2.09e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000220506
AA Change: Y108*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (41/44)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Arsi T C 18: 61,050,388 (GRCm39) W424R probably damaging Het
Atad2 A G 15: 57,980,252 (GRCm39) S411P probably damaging Het
Cdhr2 G A 13: 54,861,818 (GRCm39) V72I probably damaging Het
Celf4 T C 18: 25,624,258 (GRCm39) I414V probably damaging Het
Cfap43 G A 19: 47,770,844 (GRCm39) T689I probably benign Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cyp3a11 A T 5: 145,806,005 (GRCm39) S121T probably benign Het
Dip2c C A 13: 9,659,092 (GRCm39) Q864K probably damaging Het
Fbxo3 A G 2: 103,881,510 (GRCm39) T281A probably damaging Het
Gm5148 T A 3: 37,768,758 (GRCm39) H154L unknown Het
Gsdma2 T A 11: 98,542,758 (GRCm39) probably null Het
Hfm1 T C 5: 107,052,663 (GRCm39) I273M possibly damaging Het
Hspa4l A G 3: 40,700,435 (GRCm39) E14G probably benign Het
Inava G T 1: 136,142,088 (GRCm39) N670K probably benign Het
Lgals12 T G 19: 7,584,081 (GRCm39) E5D possibly damaging Het
Lsg1 T G 16: 30,392,061 (GRCm39) I237L probably benign Het
Mettl14 T C 3: 123,177,254 (GRCm39) E49G probably damaging Het
Nbeal1 A G 1: 60,370,107 (GRCm39) I2675V probably benign Het
Or2y1e A T 11: 49,218,304 (GRCm39) Q22L probably benign Het
Or4b1b A T 2: 90,112,406 (GRCm39) V171E probably damaging Het
Or5k15 T G 16: 58,710,143 (GRCm39) S147R probably benign Het
Padi1 A T 4: 140,542,089 (GRCm39) L611Q probably damaging Het
Pcdhac2 A G 18: 37,277,764 (GRCm39) D248G probably damaging Het
Plekhm1 C A 11: 103,261,760 (GRCm39) R940L probably damaging Het
Rasa3 A G 8: 13,664,532 (GRCm39) probably null Het
Rspo2 C A 15: 42,939,307 (GRCm39) R161L probably benign Het
Sacs A G 14: 61,443,786 (GRCm39) Y1944C probably damaging Het
Slc7a10 G T 7: 34,898,140 (GRCm39) M297I probably damaging Het
Spata31e3 A C 13: 50,404,141 (GRCm39) S54A probably benign Het
Ssh2 A G 11: 77,299,009 (GRCm39) T112A possibly damaging Het
Ttc7 A T 17: 87,628,829 (GRCm39) probably null Het
Vmn1r64 T A 7: 5,886,895 (GRCm39) H216L probably benign Het
Vmn2r112 A G 17: 22,837,393 (GRCm39) K618R probably damaging Het
Vmp1 T A 11: 86,552,014 (GRCm39) I117L probably benign Het
Wdr31 A G 4: 62,375,675 (GRCm39) probably null Het
Zfp329 A G 7: 12,541,840 (GRCm39) V284A probably benign Het
Zfp551 G A 7: 12,150,318 (GRCm39) H364Y possibly damaging Het
Other mutations in Vsnl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AAGACTTGGTGTGTAGCTAGC -3'
(R):5'- ACTACACTGTAACGGGGATGG -3'

Sequencing Primer
(F):5'- TGTGTAGCTAGCAGGGCTCC -3'
(R):5'- ATGCTAACTCTACCCTGGGG -3'
Posted On 2015-06-20