Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4696001:Vsnl1'

556808

Institutional Source

Beutler Lab

Gene Symbol

Vsnl1

Ensembl Gene

ENSMUSG00000054459

Gene Name

visinin-like 1

Synonyms

VILIP

Accession Numbers

Essential gene?

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

Stock #

PIT4696001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11375258-11486579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11376448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 146 (T146A)

Ref Sequence

ENSEMBL: ENSMUSP00000072145 (fasta)

Gene Model

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

AlphaFold

P62761

Predicted Effect

probably benign
Transcript: ENSMUST00000072299
AA Change: T146A

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000072145
Gene: ENSMUSG00000054459
AA Change: T146A

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: T146A

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 93.5%
3x: 91.0%
10x: 86.2%
20x: 75.9%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,384,209 (GRCm39)		probably null	Het
Adam20	T	A	8: 41,247,985 (GRCm39)	Y32N	probably benign	Het
Adm	T	C	7: 110,227,496 (GRCm39)	V4A	probably benign	Het
Anpep	G	A	7: 79,489,212 (GRCm39)	T320I	possibly damaging	Het
Atp8b1	T	C	18: 64,672,341 (GRCm39)	S1008G	possibly damaging	Het
B9d1	T	A	11: 61,396,069 (GRCm39)	M12K	possibly damaging	Het
Cad	T	C	5: 31,229,438 (GRCm39)	L1435P	probably damaging	Het
Cat	T	C	2: 103,302,157 (GRCm39)	D180G	probably damaging	Het
Cntln	C	T	4: 84,892,237 (GRCm39)	T374M	probably damaging	Het
Cyp2a5	G	A	7: 26,540,404 (GRCm39)	R339Q	probably benign	Het
Defa22	T	C	8: 21,652,352 (GRCm39)	L6P	probably damaging	Het
Dr1	T	A	5: 108,417,604 (GRCm39)	I50K	probably damaging	Het
Eln	C	T	5: 134,766,032 (GRCm39)	G57E	unknown	Het
Fat4	T	C	3: 38,943,153 (GRCm39)	I682T	probably benign	Het
Fat4	C	A	3: 39,036,506 (GRCm39)	A3386E	probably damaging	Het
Fcgr3	T	A	1: 170,885,319 (GRCm39)	Y102F	probably damaging	Het
Gm5930	A	T	14: 44,573,993 (GRCm39)	L115M	probably damaging	Het
Herc1	T	A	9: 66,386,291 (GRCm39)	V3748D	probably damaging	Het
Ino80d	A	G	1: 63,125,145 (GRCm39)	S106P	probably benign	Het
Kcns3	C	T	12: 11,142,749 (GRCm39)		probably benign	Het
Kndc1	T	A	7: 139,512,830 (GRCm39)	L1527Q	probably damaging	Het
Lepr	T	G	4: 101,637,180 (GRCm39)	S690A	probably benign	Het
Lrfn5	T	C	12: 61,890,343 (GRCm39)	F544S	probably damaging	Het
Mapkap1	C	A	2: 34,509,861 (GRCm39)	H450Q	probably damaging	Het
Mdm1	A	G	10: 117,994,445 (GRCm39)	T485A	probably benign	Het
Megf10	T	C	18: 57,410,760 (GRCm39)	C690R	probably damaging	Het
Myo7a	A	G	7: 97,712,806 (GRCm39)	M1723T	probably benign	Het
Nrip3	A	T	7: 109,364,714 (GRCm39)	C137*	probably null	Het
Or5w22	T	A	2: 87,363,124 (GRCm39)	I249N	probably damaging	Het
Pde4a	T	A	9: 21,122,297 (GRCm39)	M731K	probably benign	Het
Pebp1	A	G	5: 117,421,527 (GRCm39)	L117P	probably damaging	Het
Phc2	T	C	4: 128,598,995 (GRCm39)	Y51H	probably damaging	Het
Ppp2r5b	A	G	19: 6,284,713 (GRCm39)	F50S	probably benign	Het
Prpf4b	A	G	13: 35,083,825 (GRCm39)	S865G	probably benign	Het
Ptpn5	C	T	7: 46,738,354 (GRCm39)	V243M	probably benign	Het
Rora	T	C	9: 69,271,841 (GRCm39)	L273P	possibly damaging	Het
Rtp4	T	A	16: 23,432,204 (GRCm39)	S245R	probably benign	Het
Scgb2b20	C	T	7: 33,063,985 (GRCm39)	G95D	probably benign	Het
Sec24b	A	G	3: 129,788,040 (GRCm39)	V820A	probably benign	Het
Sim2	A	G	16: 93,895,168 (GRCm39)	D62G	possibly damaging	Het
Slc17a4	A	T	13: 24,084,497 (GRCm39)	V429D	probably benign	Het
Sp2	T	C	11: 96,852,799 (GRCm39)	T42A	probably damaging	Het
Spata3	G	A	1: 85,952,169 (GRCm39)	R141Q	unknown	Het
Sptbn2	A	T	19: 4,795,605 (GRCm39)	E1658D	probably benign	Het
Tcaf1	T	C	6: 42,655,473 (GRCm39)	H501R	probably benign	Het
Tec	G	A	5: 72,931,178 (GRCm39)	T262M	possibly damaging	Het
Timm9	A	T	12: 71,172,305 (GRCm39)	N22K	possibly damaging	Het
Tln1	C	T	4: 43,542,701 (GRCm39)		probably null	Het
Tmbim4	A	G	10: 120,053,529 (GRCm39)	I109M	probably benign	Het
Tmc7	T	C	7: 118,163,566 (GRCm39)	K110E	probably benign	Het
Tmem107	C	T	11: 68,963,399 (GRCm39)	P136L	probably benign	Het
Ttc21b	T	C	2: 66,061,563 (GRCm39)		probably null	Het
Ubd	A	C	17: 37,506,335 (GRCm39)	T74P	probably damaging	Het
Vps11	A	G	9: 44,269,486 (GRCm39)	V255A	possibly damaging	Het
Wdr38	G	T	2: 38,889,984 (GRCm39)		probably null	Het
Yes1	T	A	5: 32,841,969 (GRCm39)	S498T	possibly damaging	Het
Zc3h13	G	A	14: 75,569,323 (GRCm39)	R1390H	probably damaging	Het
Zscan4b	A	G	7: 10,635,949 (GRCm39)	V126A	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
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

Predicted Primers

PCR Primer
(F):5'- TGTGCAGTCCATAGCATCGAC -3'
(R):5'- AGAAGTACCGGTTGCCATG -3'

Sequencing Primer
(F):5'- CGACATCAGCTCATTTCTGAATG -3'
(R):5'- TGCCATGGGAACTTAGAACTTG -3'

Posted On

2019-06-07