Mutagenetix > Incidental Mutation

Incidental Mutation 'R6247:Vil1'

505656

Institutional Source

Beutler Lab

Gene Symbol

Vil1

Ensembl Gene

ENSMUSG00000026175

Gene Name

villin 1

Synonyms

Villin

MMRRC Submission

044366-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R6247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74448543-74474719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74471498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 760 (S760G)

Ref Sequence

ENSEMBL: ENSMUSP00000027366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027366] [ENSMUST00000044260]

AlphaFold

Q62468

Predicted Effect

probably benign
Transcript: ENSMUST00000027366
AA Change: S760G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: S760G

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: ENSMUST00000044260

SMART Domains

Protein: ENSMUSP00000035445
Gene: ENSMUSG00000033364

Domain	Start	End	E-Value	Type
Pfam:UCH_N	1	105	5.1e-47	PFAM
low complexity region	182	200	N/A	INTRINSIC
Pfam:UCH_1	341	645	3.4e-16	PFAM
UIM	704	723	1.33e1	SMART
UIM	806	825	1.04e-1	SMART
UIM	828	847	2.11e-2	SMART
low complexity region	893	909	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,049,768 (GRCm39)	D871G	probably benign	Het
A4galt	G	T	15: 83,112,020 (GRCm39)	H254Q	probably damaging	Het
AA986860	C	A	1: 130,670,780 (GRCm39)	T334K	possibly damaging	Het
Abca13	T	C	11: 9,353,874 (GRCm39)	I3732T	probably benign	Het
Abcf1	C	T	17: 36,271,956 (GRCm39)	D353N	probably damaging	Het
Adss1	A	G	12: 112,594,790 (GRCm39)	H83R	probably damaging	Het
Amer2	C	A	14: 60,616,321 (GRCm39)	A172E	probably damaging	Het
Ankhd1	A	G	18: 36,787,199 (GRCm39)	T2300A	probably benign	Het
Ano5	G	A	7: 51,215,879 (GRCm39)		probably null	Het
Apob	G	A	12: 8,051,801 (GRCm39)	G1109D	probably damaging	Het
Arhgef26	A	T	3: 62,288,381 (GRCm39)	N484Y	probably damaging	Het
C6	A	G	15: 4,793,023 (GRCm39)	D376G	probably damaging	Het
Caml	T	C	13: 55,772,986 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,077 (GRCm39)	L473S	probably benign	Het
Cdk6	G	A	5: 3,394,553 (GRCm39)		probably null	Het
Cers5	A	T	15: 99,643,805 (GRCm39)	C153S	probably benign	Het
Cfap206	T	C	4: 34,692,530 (GRCm39)	M499V	probably benign	Het
Chd6	A	G	2: 160,791,968 (GRCm39)	M2463T	probably damaging	Het
Chn1	T	C	2: 73,537,350 (GRCm39)	E58G	possibly damaging	Het
Clec4a1	T	C	6: 122,905,001 (GRCm39)	V100A	probably benign	Het
Col7a1	G	C	9: 108,810,130 (GRCm39)		probably benign	Het
Csmd1	A	G	8: 16,246,249 (GRCm39)	V1050A	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd5a	A	T	7: 109,497,889 (GRCm39)	C1044S	probably damaging	Het
Dnah7b	A	G	1: 46,265,048 (GRCm39)	T2181A	probably benign	Het
Dnai1	T	C	4: 41,605,775 (GRCm39)	V255A	probably benign	Het
Dync2h1	A	G	9: 7,135,078 (GRCm39)	C1518R	probably damaging	Het
Dysf	T	C	6: 84,043,981 (GRCm39)	V273A	probably damaging	Het
Eif1	C	T	11: 100,211,223 (GRCm39)		probably benign	Het
Eml3	T	C	19: 8,908,313 (GRCm39)	I58T	probably benign	Het
Fam171b	T	A	2: 83,709,552 (GRCm39)	I408N	probably damaging	Het
Fchsd2	A	G	7: 100,902,747 (GRCm39)	E351G	probably benign	Het
Focad	G	A	4: 88,325,377 (GRCm39)	A81T	possibly damaging	Het
Fpr-rs4	G	A	17: 18,242,748 (GRCm39)	V252I	probably benign	Het
Fryl	A	G	5: 73,222,824 (GRCm39)	L1919P	probably damaging	Het
Gm12185	C	T	11: 48,806,735 (GRCm39)	R152H	probably damaging	Het
Gm14410	C	T	2: 176,885,517 (GRCm39)	G249E	probably damaging	Het
Gm6685	A	T	11: 28,289,706 (GRCm39)	S37T	possibly damaging	Het
Greb1	G	A	12: 16,766,676 (GRCm39)	P374L	probably damaging	Het
Hdac4	A	T	1: 91,940,560 (GRCm39)		probably null	Het
Hecw1	A	T	13: 14,409,010 (GRCm39)	L1099*	probably null	Het
Hivep1	T	C	13: 42,310,966 (GRCm39)	S1069P	probably benign	Het
Itgad	T	C	7: 127,784,959 (GRCm39)	I288T	possibly damaging	Het
Kif9	A	G	9: 110,317,612 (GRCm39)	M96V	possibly damaging	Het
Kncn	T	A	4: 115,741,987 (GRCm39)	V18E	probably damaging	Het
Lrrc74a	G	A	12: 86,805,330 (GRCm39)	G384D	probably damaging	Het
Ltb4r2	T	C	14: 56,000,108 (GRCm39)	V243A	probably damaging	Het
Mtnr1b	T	A	9: 15,774,082 (GRCm39)	I326L	probably benign	Het
Mylip	C	T	13: 45,561,957 (GRCm39)	T253I	probably damaging	Het
Necap1	T	A	6: 122,857,611 (GRCm39)		probably null	Het
Nedd4	C	T	9: 72,633,720 (GRCm39)	P409S	probably damaging	Het
Npat	A	T	9: 53,456,538 (GRCm39)	E36D	probably damaging	Het
Ovch2	C	T	7: 107,384,648 (GRCm39)	V490M	probably damaging	Het
Pax9	T	C	12: 56,756,480 (GRCm39)	S273P	probably benign	Het
Plce1	A	G	19: 38,734,289 (GRCm39)	E1563G	probably damaging	Het
Podxl2	C	A	6: 88,826,299 (GRCm39)	G336*	probably null	Het
Prdm1	A	G	10: 44,322,782 (GRCm39)		probably null	Het
Psme4	T	C	11: 30,803,245 (GRCm39)	I29T	possibly damaging	Het
Ptprd	A	T	4: 75,984,528 (GRCm39)	D780E	probably benign	Het
Retsat	T	C	6: 72,581,918 (GRCm39)	M294T	probably benign	Het
Robo2	A	T	16: 73,764,672 (GRCm39)	V652D	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Serpinb3d	G	T	1: 107,010,490 (GRCm39)	T66K	probably benign	Het
Setd1b	A	T	5: 123,296,461 (GRCm39)		probably benign	Het
Slc7a10	G	T	7: 34,886,012 (GRCm39)	A36S	possibly damaging	Het
Sstr3	T	A	15: 78,423,788 (GRCm39)	I320F	probably damaging	Het
Syne1	G	T	10: 5,299,071 (GRCm39)	A1005E	probably damaging	Het
Syngap1	C	A	17: 27,181,931 (GRCm39)	S975*	probably null	Het
Tinagl1	C	T	4: 130,066,725 (GRCm39)	C124Y	probably null	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Tmed2	T	A	5: 124,685,055 (GRCm39)	I68K	possibly damaging	Het
Tmem104	A	G	11: 115,134,819 (GRCm39)	T451A	probably benign	Het
Tmem141	T	C	2: 25,511,693 (GRCm39)		probably null	Het
Tmem184a	C	A	5: 139,798,827 (GRCm39)	V41L	probably benign	Het
Tmem39b	C	T	4: 129,580,584 (GRCm39)	V303I	possibly damaging	Het
Tsn	T	C	1: 118,232,939 (GRCm39)	I122V	probably benign	Het
Ttc41	G	T	10: 86,612,527 (GRCm39)	V1267L	probably benign	Het
Uggt1	A	T	1: 36,202,309 (GRCm39)	L1096Q	probably damaging	Het
Usp50	A	T	2: 126,617,713 (GRCm39)	I244N	probably benign	Het
Wasf1	T	A	10: 40,813,741 (GRCm39)	V541E	unknown	Het
Zc3h13	G	T	14: 75,581,176 (GRCm39)	S1721I	probably benign	Het
Zfp180	G	T	7: 23,804,530 (GRCm39)	K316N	probably damaging	Het
Zfp582	T	C	7: 6,356,945 (GRCm39)	C253R	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp759	A	G	13: 67,288,524 (GRCm39)	T692A	probably benign	Het
Zfyve26	A	G	12: 79,329,758 (GRCm39)	V476A	probably benign	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
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
R7553:Vil1	UTSW	1	74,465,891 (GRCm39)	critical splice donor site	probably null
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'- TGACTTAGGCCAGTTGCAGG -3'
(R):5'- CCCATGAAGGTGTTTGGTTCAC -3'

Sequencing Primer
(F):5'- CTAGGCTATTAGCTTTTGGGTCCAAC -3'
(R):5'- TGGTTCACCAAGGACTCCCAG -3'

Posted On

2018-02-28