Mutagenetix > Incidental Mutation

Incidental Mutation 'R1916:Vil1'

214826

Institutional Source

Beutler Lab

Gene Symbol

Vil1

Ensembl Gene

ENSMUSG00000026175

Gene Name

villin 1

Synonyms

Villin

MMRRC Submission

039934-MU

Accession Numbers

Essential gene?

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

Stock #

R1916 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74448543-74474719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74457684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 106 (T106A)

Ref Sequence

ENSEMBL: ENSMUSP00000027366 (fasta)

Gene Model

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

AlphaFold

Q62468

Predicted Effect

probably benign
Transcript: ENSMUST00000027366
AA Change: T106A

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

SMART Domains

Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: T106A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161087

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

Validation Efficiency

99% (97/98)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,652,924 (GRCm39)	K121R	possibly damaging	Het
Abca13	G	T	11: 9,484,456 (GRCm39)	W4342L	probably damaging	Het
Abcg8	A	T	17: 84,995,958 (GRCm39)		probably null	Het
Acaa1b	A	G	9: 118,985,730 (GRCm39)	L65P	probably damaging	Het
Adam6a	G	T	12: 113,509,556 (GRCm39)	R643L	probably benign	Het
Agbl2	A	T	2: 90,645,785 (GRCm39)	R839S	possibly damaging	Het
Ambra1	A	T	2: 91,741,806 (GRCm39)	N967I	probably damaging	Het
Ankrd17	T	A	5: 90,408,000 (GRCm39)	N1406Y	probably damaging	Het
Armh4	T	C	14: 50,005,932 (GRCm39)	T588A	probably damaging	Het
Bbx	G	T	16: 50,086,608 (GRCm39)	S96Y	probably damaging	Het
Cdh12	T	A	15: 21,520,336 (GRCm39)		probably null	Het
Cdh9	A	C	15: 16,823,361 (GRCm39)	R114S	probably benign	Het
Cenpo	T	G	12: 4,266,683 (GRCm39)	I142L	probably benign	Het
Cfap69	T	C	5: 5,713,970 (GRCm39)	K21E	probably damaging	Het
Chmp4c	A	T	3: 10,454,996 (GRCm39)	D221V	probably benign	Het
Cstf3	T	A	2: 104,486,101 (GRCm39)	V447D	possibly damaging	Het
Cwc22	A	T	2: 77,735,819 (GRCm39)	C566S	probably benign	Het
Dgkh	A	G	14: 78,832,663 (GRCm39)	M798T	probably damaging	Het
Dnai2	T	C	11: 114,623,749 (GRCm39)	V4A	possibly damaging	Het
Dnai7	A	C	6: 145,121,926 (GRCm39)	V631G	probably benign	Het
Dnmbp	T	G	19: 43,890,007 (GRCm39)	I587L	possibly damaging	Het
Dock6	A	T	9: 21,724,387 (GRCm39)	M301K	probably damaging	Het
Dock8	T	C	19: 25,038,521 (GRCm39)	M69T	probably benign	Het
Ears2	T	C	7: 121,643,801 (GRCm39)	S386G	probably benign	Het
Ecsit	T	C	9: 21,983,817 (GRCm39)	I371V	probably benign	Het
Eif4a3	T	C	11: 119,184,737 (GRCm39)	I216V	probably benign	Het
Emp1	A	G	6: 135,357,128 (GRCm39)	I69V	probably damaging	Het
Epg5	A	G	18: 78,008,236 (GRCm39)	D788G	probably benign	Het
Eps15	A	G	4: 109,226,171 (GRCm39)	K324E	probably damaging	Het
Extl3	A	G	14: 65,315,071 (GRCm39)	F37S	probably benign	Het
Fam83g	A	G	11: 61,585,994 (GRCm39)	D194G	probably damaging	Het
Gcc2	A	G	10: 58,112,485 (GRCm39)	D1005G	probably damaging	Het
Gm10226	T	A	17: 21,910,916 (GRCm39)	H50Q	possibly damaging	Het
Gm1110	A	T	9: 26,800,934 (GRCm39)	V420E	probably damaging	Het
Gm16503	A	G	4: 147,625,667 (GRCm39)	R54G	unknown	Het
Grin3b	T	C	10: 79,810,432 (GRCm39)	M646T	probably damaging	Het
Grm8	T	C	6: 27,363,583 (GRCm39)	D644G	probably benign	Het
Gtf2i	C	A	5: 134,275,702 (GRCm39)	V660F	probably damaging	Het
Heatr4	G	T	12: 84,002,591 (GRCm39)	Q808K	probably benign	Het
Hif3a	T	C	7: 16,773,581 (GRCm39)	S573G	possibly damaging	Het
Htr2b	C	T	1: 86,027,523 (GRCm39)	V328M	probably damaging	Het
Jph1	T	C	1: 17,162,279 (GRCm39)	T128A	probably damaging	Het
Kcnt1	T	C	2: 25,790,481 (GRCm39)	V481A	probably damaging	Het
Khk	A	G	5: 31,087,962 (GRCm39)	Y212C	probably damaging	Het
Lgi2	T	A	5: 52,703,974 (GRCm39)	Q219L	probably benign	Het
Lipf	T	A	19: 33,943,075 (GRCm39)	Y128N	probably benign	Het
Lipg	A	G	18: 75,094,008 (GRCm39)	V13A	probably benign	Het
Lrrc8e	T	C	8: 4,285,202 (GRCm39)	S476P	probably benign	Het
Map2k7	T	G	8: 4,295,795 (GRCm39)	V425G	probably benign	Het
Mycbp2	A	T	14: 103,422,319 (GRCm39)	S2451R	probably damaging	Het
Mylk3	A	G	8: 86,053,821 (GRCm39)	S629P	probably damaging	Het
Nrp2	A	T	1: 62,801,906 (GRCm39)	I450F	probably damaging	Het
Or4c126	T	C	2: 89,824,148 (GRCm39)	V137A	probably benign	Het
Or8g50	A	G	9: 39,648,918 (GRCm39)	D269G	probably benign	Het
Osbpl11	T	C	16: 33,006,213 (GRCm39)	S14P	probably benign	Het
Osbpl11	T	A	16: 33,030,465 (GRCm39)	V231D	possibly damaging	Het
Parg	T	A	14: 31,930,184 (GRCm39)		probably benign	Het
Pax9	G	T	12: 56,743,923 (GRCm39)	R190L	possibly damaging	Het
Prss12	G	A	3: 123,300,144 (GRCm39)	V752I	probably benign	Het
Pstpip2	A	G	18: 77,922,892 (GRCm39)	N34S	probably damaging	Het
Rarg	T	C	15: 102,160,880 (GRCm39)	D53G	probably benign	Het
Rbak	T	C	5: 143,161,871 (GRCm39)	K53R	probably damaging	Het
Scgn	A	T	13: 24,162,808 (GRCm39)	S107R	probably damaging	Het
Sema3c	A	G	5: 17,932,399 (GRCm39)	Q634R	probably benign	Het
Serpinh1	A	G	7: 98,998,288 (GRCm39)	L114P	probably damaging	Het
Slc35f4	T	C	14: 49,541,380 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,201,884 (GRCm39)	I617F	probably null	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Spen	A	G	4: 141,199,909 (GRCm39)	L2883P	probably damaging	Het
Stmn3	A	T	2: 180,949,073 (GRCm39)	M140K	possibly damaging	Het
Syn3	A	G	10: 86,190,208 (GRCm39)		probably null	Het
Tamalin	T	C	15: 101,124,850 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,414 (GRCm39)	V163A	possibly damaging	Het
Ttc12	A	G	9: 49,371,698 (GRCm39)	Y189H	probably damaging	Het
Ubxn7	T	G	16: 32,200,577 (GRCm39)		probably benign	Het
Unc5b	G	A	10: 60,614,027 (GRCm39)	T274I	probably damaging	Het
Upk1b	C	A	16: 38,596,548 (GRCm39)		probably null	Het
Usp18	A	G	6: 121,245,513 (GRCm39)	I296M	probably benign	Het
Usp42	A	G	5: 143,700,811 (GRCm39)	Y1071H	probably damaging	Het
Vmn1r42	T	A	6: 89,821,949 (GRCm39)	I207F	probably benign	Het
Vmn1r63	A	G	7: 5,806,225 (GRCm39)	F136L	probably damaging	Het
Vopp1	C	T	6: 57,731,572 (GRCm39)	V140I	probably benign	Het
Wdhd1	T	C	14: 47,496,034 (GRCm39)	D610G	possibly damaging	Het
Wdr48	T	A	9: 119,741,483 (GRCm39)	D142E	probably benign	Het
Whrn	A	G	4: 63,412,969 (GRCm39)	Y10H	probably damaging	Het
Zmat3	A	G	3: 32,397,497 (GRCm39)	V216A	probably benign	Het
Zmym2	C	T	14: 57,197,299 (GRCm39)	R1356W	probably damaging	Het
Zyg11b	A	T	4: 108,129,480 (GRCm39)	L44Q	probably damaging	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
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
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'- AGGTCTCACTACACAGATGCC -3'
(R):5'- GAGCCTCAGACTTCCTTCTG -3'

Sequencing Primer
(F):5'- GATGCCTCCCACCCCCAG -3'
(R):5'- TTCTGAAAGTCTGGCCAGC -3'

Posted On

2014-07-14