Mutagenetix > Incidental Mutation

Incidental Mutation 'R1444:Vsnl1'

158727

Institutional Source

Beutler Lab

Gene Symbol

Vsnl1

Ensembl Gene

ENSMUSG00000054459

Gene Name

visinin-like 1

Synonyms

VILIP

MMRRC Submission

039499-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.413) question?

Stock #

R1444 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

11375258-11486579 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 11382219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072299] [ENSMUST00000220506]

AlphaFold

P62761

Predicted Effect

probably null
Transcript: ENSMUST00000072299

SMART Domains

Protein: ENSMUSP00000072145
Gene: ENSMUSG00000054459

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 null
Transcript: ENSMUST00000220506

Meta Mutation Damage Score

0.9485

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.1%

Validation Efficiency

98% (59/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 73,205,230 (GRCm39)	D347V	probably damaging	Het
A630010A05Rik	T	A	16: 14,427,558 (GRCm39)	F82I	possibly damaging	Het
Acad9	T	A	3: 36,132,657 (GRCm39)	F297L	possibly damaging	Het
Adgrl3	A	T	5: 81,660,200 (GRCm39)	Y323F	probably damaging	Het
Brca2	T	A	5: 150,465,915 (GRCm39)	M1893K	probably benign	Het
Cactin	A	T	10: 81,158,270 (GRCm39)		probably null	Het
Cadm4	A	G	7: 24,203,046 (GRCm39)	*389W	probably null	Het
Calr4	A	G	4: 109,103,438 (GRCm39)	T183A	possibly damaging	Het
Card10	A	T	15: 78,672,041 (GRCm39)		probably benign	Het
Cdh6	C	A	15: 13,091,924 (GRCm39)	G14C	probably benign	Het
Cds1	A	G	5: 101,946,245 (GRCm39)	Y148C	probably damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Cr1l	A	T	1: 194,813,510 (GRCm39)	L35Q	probably damaging	Het
Daam2	T	C	17: 49,787,779 (GRCm39)	R445G	possibly damaging	Het
Ddn	G	A	15: 98,704,485 (GRCm39)	T269M	probably damaging	Het
Epb41	G	A	4: 131,733,382 (GRCm39)	S176L	probably benign	Het
Ephx2	T	C	14: 66,344,769 (GRCm39)	D167G	probably damaging	Het
Erbb4	G	A	1: 68,293,759 (GRCm39)	R711C	probably damaging	Het
Flg2	T	A	3: 93,109,620 (GRCm39)	H549Q	unknown	Het
Gje1	A	G	10: 14,592,380 (GRCm39)		probably null	Het
Heatr5b	G	A	17: 79,060,622 (GRCm39)	H2018Y	probably benign	Het
Heatr5b	A	T	17: 79,062,856 (GRCm39)		probably benign	Het
Hectd3	G	T	4: 116,853,593 (GRCm39)	R189L	probably benign	Het
Hsd3b6	T	C	3: 98,715,237 (GRCm39)	T52A	probably benign	Het
Il10rb	T	G	16: 91,218,675 (GRCm39)		probably null	Het
Kcnc2	T	C	10: 112,291,506 (GRCm39)		probably benign	Het
Lpl	T	A	8: 69,345,399 (GRCm39)	D134E	probably damaging	Het
Lrit1	T	C	14: 36,783,928 (GRCm39)	F419L	probably benign	Het
Mmp8	T	C	9: 7,567,264 (GRCm39)	C422R	probably benign	Het
Myo18b	A	G	5: 112,923,117 (GRCm39)		probably null	Het
Ncor1	T	A	11: 62,294,632 (GRCm39)	I280F	probably damaging	Het
Obox2	A	C	7: 15,130,957 (GRCm39)	Q63P	possibly damaging	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or4d2b	T	A	11: 87,780,585 (GRCm39)	I46L	probably benign	Het
Phldb2	T	A	16: 45,577,616 (GRCm39)		probably benign	Het
Pkd1l1	A	G	11: 8,804,386 (GRCm39)	F1735S	probably damaging	Het
Pramel11	G	T	4: 143,623,461 (GRCm39)	L238I	probably benign	Het
Prss30	T	C	17: 24,192,712 (GRCm39)	Y156C	probably damaging	Het
Rnf213	T	C	11: 119,333,226 (GRCm39)	S2812P	probably damaging	Het
Rttn	A	G	18: 89,060,991 (GRCm39)	D1053G	probably benign	Het
Slc6a2	A	G	8: 93,697,882 (GRCm39)	N120S	probably damaging	Het
Snrnp200	T	C	2: 127,070,158 (GRCm39)		probably benign	Het
Spindoc	G	T	19: 7,360,086 (GRCm39)	D27E	probably benign	Het
Svep1	T	C	4: 58,115,754 (GRCm39)	T980A	possibly damaging	Het
Tgfbr1	A	G	4: 47,393,259 (GRCm39)	E46G	probably benign	Het
Tmem183a	T	C	1: 134,289,284 (GRCm39)	I49V	probably benign	Het
Tmem212	C	T	3: 27,939,244 (GRCm39)	V81I	possibly damaging	Het
Toporsl	T	A	4: 52,610,254 (GRCm39)	I49N	probably benign	Het
Trim67	A	G	8: 125,549,932 (GRCm39)	T521A	probably benign	Het
Wdr87-ps	T	C	7: 29,229,380 (GRCm39)		noncoding transcript	Het
Xrn2	C	T	2: 146,903,408 (GRCm39)	R803W	probably damaging	Het
Zfp131	A	T	13: 120,251,784 (GRCm39)	C9S	probably damaging	Het
Zfp750	C	T	11: 121,402,873 (GRCm39)	S625N	probably damaging	Het
Zfp871	G	T	17: 32,993,900 (GRCm39)	T406N	possibly 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
R0598:Vsnl1	UTSW	12	11,436,860 (GRCm39)	missense	probably benign
R0909:Vsnl1	UTSW	12	11,376,372 (GRCm39)	missense	probably damaging	1.00
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'- AGCCCAGTTCAGTTTCTGCTCAAAG -3'
(R):5'- TGCCTCCACAGGAAATGGTCTATCC -3'

Sequencing Primer
(F):5'- CTGCTCAAAGCTACCTCTGG -3'
(R):5'- ACAGGAAATGGTCTATCCCTGTG -3'

Posted On

2014-03-14