Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Vil1'

584523

Institutional Source

Beutler Lab

Gene Symbol

Vil1

Ensembl Gene

ENSMUSG00000026175

Gene Name

villin 1

Synonyms

Villin

MMRRC Submission

045622-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R7553 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74448543-74474719 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 74465891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027366]

AlphaFold

Q62468

Predicted Effect

probably null
Transcript: ENSMUST00000027366

SMART Domains

Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175

Domain	Start	End	E-Value	Type
GEL	17	114	2.93e-29	SMART
GEL	135	229	1.33e-18	SMART
GEL	251	349	5.85e-29	SMART
GEL	398	495	1.44e-28	SMART
GEL	515	601	7.31e-30	SMART
GEL	620	714	1.36e-29	SMART
VHP	792	827	1.77e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159749

SMART Domains

Protein: ENSMUSP00000123786
Gene: ENSMUSG00000026175

Domain	Start	End	E-Value	Type
GEL	37	131	1.33e-18	SMART
GEL	153	248	6.68e-24	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants do not exhibit gross abnormalities or apparent defects of microvilli morphogenesis, however in one line, an increased sensitivity to colitis induced by dextran sulfate was observed. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted(4) Gene trapped(4)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,648,545 (GRCm39)	L649P	probably damaging	Het
Acad10	T	C	5: 121,777,318 (GRCm39)	Y371C	probably damaging	Het
Avp	A	G	2: 130,423,098 (GRCm39)	V71A	probably damaging	Het
Bhmt	C	T	13: 93,756,589 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,179,738 (GRCm39)	E874G	probably damaging	Het
Capn5	A	G	7: 97,773,231 (GRCm39)	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348 (GRCm39)	Q292L	probably benign	Het
Cd96	T	G	16: 45,872,384 (GRCm39)	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,310,566 (GRCm39)	A153V	probably damaging	Het
Dlk1	G	A	12: 109,420,889 (GRCm39)	V15I	unknown	Het
Dmbt1	A	G	7: 130,706,597 (GRCm39)	N1372S	unknown	Het
Dntt	A	T	19: 41,017,926 (GRCm39)	R17W	probably damaging	Het
Erich3	G	T	3: 154,439,137 (GRCm39)	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,881 (GRCm39)	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Grid2	A	G	6: 64,053,925 (GRCm39)	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,749,394 (GRCm39)	G603S	possibly damaging	Het
Hexb	C	T	13: 97,334,681 (GRCm39)	R30Q	probably benign	Het
Homer3	A	T	8: 70,742,774 (GRCm39)	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,790,151 (GRCm39)	E15G	probably benign	Het
Manea	A	T	4: 26,327,986 (GRCm39)	F352I	probably damaging	Het
Mcf2l	T	A	8: 13,047,268 (GRCm39)	M210K	probably benign	Het
Morc3	T	C	16: 93,667,824 (GRCm39)	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,155,571 (GRCm39)	V894A	possibly damaging	Het
Myh4	T	A	11: 67,147,221 (GRCm39)	M1622K	probably damaging	Het
Myrf	A	G	19: 10,206,240 (GRCm39)	F59L	probably benign	Het
Ndst3	G	T	3: 123,350,709 (GRCm39)		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Nos3	A	T	5: 24,586,715 (GRCm39)	D986V	possibly damaging	Het
Nrp1	G	A	8: 129,158,468 (GRCm39)	A252T	probably damaging	Het
Nup205	G	T	6: 35,178,934 (GRCm39)	R668L	probably damaging	Het
Or51aa2	T	C	7: 103,188,363 (GRCm39)	Y26C	probably damaging	Het
Or5af2	T	A	11: 58,707,886 (GRCm39)	D17E	probably benign	Het
Or5p56	G	A	7: 107,589,682 (GRCm39)	V37I	probably benign	Het
Pcdhga1	T	A	18: 37,882,735 (GRCm39)		probably null	Het
Pck1	A	G	2: 172,998,860 (GRCm39)	I373V	probably benign	Het
Pde8b	T	C	13: 95,223,258 (GRCm39)	N227S	probably benign	Het
Pianp	T	G	6: 124,976,214 (GRCm39)	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2r1	A	T	2: 60,353,243 (GRCm39)	N239K	possibly damaging	Het
Pls1	T	A	9: 95,669,140 (GRCm39)	N27I	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Prkag3	A	G	1: 74,783,894 (GRCm39)	F330L	probably damaging	Het
Prss56	A	G	1: 87,111,261 (GRCm39)	D16G	probably benign	Het
Rad17	A	T	13: 100,769,794 (GRCm39)	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,326,548 (GRCm39)	E173G	probably damaging	Het
Retreg3	C	T	11: 100,997,216 (GRCm39)	R88H	possibly damaging	Het
Rhag	G	A	17: 41,139,286 (GRCm39)	G74R	probably damaging	Het
Rybp	A	G	6: 100,209,220 (GRCm39)	S201P	possibly damaging	Het
S100a10	G	A	3: 93,471,602 (GRCm39)	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,059,673 (GRCm39)	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,154,539 (GRCm39)	D122G	probably benign	Het
Setdb1	A	G	3: 95,254,076 (GRCm39)	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,198,803 (GRCm39)	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,139,580 (GRCm39)	E266G	probably damaging	Het
Stard9	A	T	2: 120,524,289 (GRCm39)		probably null	Het
Stpg2	A	G	3: 138,924,098 (GRCm39)	Y167C	probably damaging	Het
Tex264	T	C	9: 106,536,335 (GRCm39)	E274G	probably damaging	Het
Tigd2	G	A	6: 59,188,564 (GRCm39)	S477N	probably benign	Het
Urb1	A	G	16: 90,589,752 (GRCm39)	L343P	probably damaging	Het
Vars2	A	T	17: 35,975,680 (GRCm39)	C246S	possibly damaging	Het
Vmn2r61	C	G	7: 41,916,205 (GRCm39)	L273V	not run	Het
Vmn2r-ps158	T	G	7: 42,697,447 (GRCm39)	C835G	probably damaging	Het
Zfp37	C	A	4: 62,110,236 (GRCm39)	G317V	probably damaging	Het
Zfp760	A	G	17: 21,941,872 (GRCm39)	K349R	possibly damaging	Het
Zyx	A	T	6: 42,327,408 (GRCm39)	E69V	probably null	Het

Other mutations in Vil1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Vil1	APN	1	74,463,034 (GRCm39)	missense	probably damaging	1.00
IGL00703:Vil1	APN	1	74,463,119 (GRCm39)	missense	possibly damaging	0.61
IGL01011:Vil1	APN	1	74,474,046 (GRCm39)	splice site	probably null
IGL01314:Vil1	APN	1	74,467,397 (GRCm39)	missense	probably damaging	1.00
IGL01772:Vil1	APN	1	74,454,278 (GRCm39)	missense	probably benign
IGL02378:Vil1	APN	1	74,469,850 (GRCm39)	splice site	probably null
IGL02517:Vil1	APN	1	74,465,851 (GRCm39)	missense	probably benign	0.43
IGL02955:Vil1	APN	1	74,457,682 (GRCm39)	missense	probably benign	0.10
IGL03036:Vil1	APN	1	74,458,771 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Vil1	UTSW	1	74,460,542 (GRCm39)	missense	probably damaging	1.00
R0104:Vil1	UTSW	1	74,457,525 (GRCm39)	missense	probably benign	0.44
R0241:Vil1	UTSW	1	74,465,853 (GRCm39)	missense	probably damaging	1.00
R0241:Vil1	UTSW	1	74,465,853 (GRCm39)	missense	probably damaging	1.00
R0496:Vil1	UTSW	1	74,460,499 (GRCm39)	missense	possibly damaging	0.88
R1329:Vil1	UTSW	1	74,466,717 (GRCm39)	missense	probably benign	0.00
R1824:Vil1	UTSW	1	74,457,606 (GRCm39)	missense	probably benign	0.00
R1916:Vil1	UTSW	1	74,457,684 (GRCm39)	missense	probably benign
R2188:Vil1	UTSW	1	74,466,724 (GRCm39)	missense	probably benign	0.22
R2216:Vil1	UTSW	1	74,464,838 (GRCm39)	missense	probably benign	0.05
R3808:Vil1	UTSW	1	74,466,772 (GRCm39)	missense	probably benign
R3939:Vil1	UTSW	1	74,471,574 (GRCm39)	missense	probably benign	0.09
R4288:Vil1	UTSW	1	74,457,684 (GRCm39)	missense	probably benign
R4648:Vil1	UTSW	1	74,471,457 (GRCm39)	missense	probably benign
R4748:Vil1	UTSW	1	74,460,425 (GRCm39)	missense	probably damaging	1.00
R5333:Vil1	UTSW	1	74,471,549 (GRCm39)	missense	probably benign
R5429:Vil1	UTSW	1	74,471,490 (GRCm39)	missense	probably benign	0.05
R5973:Vil1	UTSW	1	74,455,192 (GRCm39)	missense	possibly damaging	0.93
R6007:Vil1	UTSW	1	74,459,026 (GRCm39)	missense	probably damaging	1.00
R6247:Vil1	UTSW	1	74,471,498 (GRCm39)	missense	probably benign
R6306:Vil1	UTSW	1	74,460,470 (GRCm39)	missense	possibly damaging	0.90
R6989:Vil1	UTSW	1	74,463,113 (GRCm39)	missense	probably damaging	0.99
R7112:Vil1	UTSW	1	74,455,161 (GRCm39)	missense	probably damaging	1.00
R7320:Vil1	UTSW	1	74,457,603 (GRCm39)	missense	probably damaging	1.00
R7481:Vil1	UTSW	1	74,459,058 (GRCm39)	missense	probably damaging	1.00
R7709:Vil1	UTSW	1	74,465,754 (GRCm39)	missense	probably benign	0.39
R7791:Vil1	UTSW	1	74,467,295 (GRCm39)	missense	probably damaging	1.00
R8159:Vil1	UTSW	1	74,463,136 (GRCm39)	missense	probably benign	0.00
R8190:Vil1	UTSW	1	74,474,052 (GRCm39)	nonsense	probably null
R9650:Vil1	UTSW	1	74,464,775 (GRCm39)	missense	probably benign	0.32
R9679:Vil1	UTSW	1	74,469,833 (GRCm39)	missense	probably benign	0.00
R9734:Vil1	UTSW	1	74,454,309 (GRCm39)	missense	possibly damaging	0.46
Z1176:Vil1	UTSW	1	74,467,391 (GRCm39)	missense	probably damaging	0.98
Z1177:Vil1	UTSW	1	74,460,589 (GRCm39)	missense	probably benign
Z1177:Vil1	UTSW	1	74,454,291 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAAAGAACAACTTGGAGCCTG -3'
(R):5'- GATGGAGCTGATGGATACCTC -3'

Sequencing Primer
(F):5'- AACTTGGAGCCTGTGCCCTC -3'
(R):5'- CAGGACAGGCTGATTTTAATGCAGTC -3'

Posted On

2019-10-17