Mutagenetix > Incidental Mutation

Incidental Mutation 'R7709:Vil1'

594429

Institutional Source

Beutler Lab

Gene Symbol

Vil1

Ensembl Gene

ENSMUSG00000026175

Gene Name

villin 1

Synonyms

Villin

MMRRC Submission

045768-MU

Accession Numbers

Essential gene?

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

Stock #

R7709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74448543-74474719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74465754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 515 (T515M)

Ref Sequence

ENSEMBL: ENSMUSP00000027366 (fasta)

Gene Model

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

AlphaFold

Q62468

Predicted Effect

probably benign
Transcript: ENSMUST00000027366
AA Change: T515M

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: T515M

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: 99.2%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,201,334 (GRCm39)	I443T	probably damaging	Het
2310002L09Rik	A	G	4: 73,861,091 (GRCm39)	C170R	possibly damaging	Het
4933415A04Rik	GTGTGTGTGTATGTGTGTGT	GTGTGTGTGT	11: 43,478,237 (GRCm39)		probably null	Het
A2m	A	C	6: 121,637,063 (GRCm39)	T809P	possibly damaging	Het
Abca12	T	C	1: 71,374,887 (GRCm39)	D340G	probably benign	Het
Abcg8	A	T	17: 84,999,919 (GRCm39)	D191V	probably damaging	Het
Acan	G	T	7: 78,739,356 (GRCm39)	V255F	probably damaging	Het
Ace	G	A	11: 105,879,663 (GRCm39)	V1248I	probably benign	Het
Adgre1	A	T	17: 57,709,519 (GRCm39)	Q87L	unknown	Het
Adgrl1	G	A	8: 84,665,617 (GRCm39)	V1435M	probably benign	Het
Ano8	T	C	8: 71,934,933 (GRCm39)	D423G	probably damaging	Het
Aox3	T	C	1: 58,219,810 (GRCm39)	Y1137H	probably damaging	Het
Arl5a	T	C	2: 52,295,068 (GRCm39)	D114G	probably benign	Het
B3galt9	T	G	2: 34,728,437 (GRCm39)	C79G	probably damaging	Het
Baiap2l2	G	T	15: 79,143,911 (GRCm39)	N394K	probably benign	Het
Cap1	A	T	4: 122,756,467 (GRCm39)	C355S	probably damaging	Het
Ccdc25	A	T	14: 66,077,933 (GRCm39)	D22V	probably damaging	Het
Ceacam2	T	C	7: 25,238,076 (GRCm39)	D116G	probably damaging	Het
Clec4b2	A	G	6: 123,149,974 (GRCm39)		probably benign	Het
CN725425	C	A	15: 91,124,930 (GRCm39)	R157S	probably benign	Het
Coq8b	T	C	7: 26,949,962 (GRCm39)	I347T	probably damaging	Het
Ctbp2	C	A	7: 132,591,789 (GRCm39)	V338L	probably benign	Het
Cyp2d22	A	G	15: 82,258,612 (GRCm39)	V83A	possibly damaging	Het
Daam1	G	A	12: 72,024,423 (GRCm39)	R797H	probably benign	Het
Dab1	C	A	4: 104,577,756 (GRCm39)	S275*	probably null	Het
Dgkz	T	C	2: 91,767,404 (GRCm39)	E863G	probably benign	Het
Dhx34	G	A	7: 15,946,789 (GRCm39)	A515V	possibly damaging	Het
Dnah14	T	C	1: 181,530,049 (GRCm39)		probably null	Het
Dnmt3b	C	A	2: 153,514,140 (GRCm39)	N384K	probably benign	Het
Dock5	A	G	14: 68,033,454 (GRCm39)	Y972H	probably benign	Het
Etv5	A	T	16: 22,231,597 (GRCm39)	Y138*	probably null	Het
Fdps	A	G	3: 89,008,397 (GRCm39)	S4P	probably damaging	Het
Gart	A	G	16: 91,419,853 (GRCm39)	F885L	possibly damaging	Het
Gm32687	A	T	10: 81,715,328 (GRCm39)	H240L	probably damaging	Het
Gm4553	C	T	7: 141,719,384 (GRCm39)	G15R	unknown	Het
Gm572	C	T	4: 148,753,408 (GRCm39)	T351M	probably damaging	Het
Gpr3	A	T	4: 132,937,748 (GRCm39)	L308Q	probably damaging	Het
Gpsm2	A	G	3: 108,609,097 (GRCm39)	V174A	probably benign	Het
Gucy1a1	T	C	3: 82,002,096 (GRCm39)	H661R	unknown	Het
Heatr4	A	T	12: 84,004,499 (GRCm39)	M774K	probably damaging	Het
Hmgcr	A	G	13: 96,799,605 (GRCm39)	I163T	possibly damaging	Het
Ift81	C	T	5: 122,747,394 (GRCm39)	V91M	probably damaging	Het
Igsf10	G	T	3: 59,238,964 (GRCm39)	Q406K	probably damaging	Het
Il10ra	A	G	9: 45,171,697 (GRCm39)	V257A	probably benign	Het
Ina	A	T	19: 47,012,082 (GRCm39)	K500I		Het
Lce1i	A	T	3: 92,685,066 (GRCm39)	C37S	unknown	Het
Lrrc59	A	T	11: 94,525,811 (GRCm39)	D133V	probably damaging	Het
Magi3	A	G	3: 103,941,354 (GRCm39)	I867T	probably damaging	Het
Mmaa	T	A	8: 79,995,830 (GRCm39)	R298W	probably damaging	Het
Mon1a	G	T	9: 107,777,327 (GRCm39)	V77F	probably benign	Het
Mrc2	A	G	11: 105,237,285 (GRCm39)	T1030A	probably benign	Het
Mrps27	T	A	13: 99,541,504 (GRCm39)	S162T	probably benign	Het
Mtmr12	T	A	15: 12,245,097 (GRCm39)	M204K	probably damaging	Het
Mtus1	A	G	8: 41,507,687 (GRCm39)	I21T	possibly damaging	Het
Myh2	T	C	11: 67,085,690 (GRCm39)	V1844A	probably benign	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Nbr1	T	G	11: 101,447,067 (GRCm39)	F18V	probably damaging	Het
Npy2r	T	C	3: 82,447,689 (GRCm39)	N362S	probably benign	Het
Ocln	T	A	13: 100,676,106 (GRCm39)	Y129F	probably damaging	Het
Or2t1	T	C	14: 14,328,384 (GRCm38)	I91T	probably damaging	Het
Or4c10	T	C	2: 89,760,225 (GRCm39)	I24T	probably benign	Het
Or8c20	A	G	9: 38,260,573 (GRCm39)	M59V	probably benign	Het
Pik3c2b	T	G	1: 133,007,579 (GRCm39)		probably null	Het
Prss39	A	G	1: 34,541,709 (GRCm39)	D262G	probably damaging	Het
Ptk7	T	A	17: 46,882,569 (GRCm39)	D886V	possibly damaging	Het
Ptprg	T	A	14: 12,226,452 (GRCm38)	D1348E	probably damaging	Het
Rabgap1	T	C	2: 37,427,339 (GRCm39)	I640T	possibly damaging	Het
Rogdi	A	G	16: 4,827,098 (GRCm39)	Y303H	probably damaging	Het
Rps6kb1	A	T	11: 86,404,148 (GRCm39)	M283K	probably damaging	Het
Sardh	T	A	2: 27,131,529 (GRCm39)	T188S	possibly damaging	Het
Sebox	A	G	11: 78,394,919 (GRCm39)	E87G	probably damaging	Het
Smchd1	A	T	17: 71,665,193 (GRCm39)	M1830K	probably damaging	Het
Spata31h1	A	C	10: 82,126,366 (GRCm39)	S2215A	possibly damaging	Het
Spink8	G	A	9: 109,645,848 (GRCm39)	V7I	probably benign	Het
Src	G	A	2: 157,299,164 (GRCm39)	V54M	probably benign	Het
Taar2	A	G	10: 23,816,621 (GRCm39)	I54V	probably benign	Het
Tpo	A	T	12: 30,181,859 (GRCm39)	V12E	possibly damaging	Het
Txk	T	C	5: 72,864,918 (GRCm39)	D373G	probably damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Wdr47	G	T	3: 108,525,837 (GRCm39)	C120F	probably damaging	Het
Ylpm1	C	T	12: 85,059,799 (GRCm39)	P335L	unknown	Het
Zfp148	T	A	16: 33,288,545 (GRCm39)	I220N	probably damaging	Het
Zfp992	A	T	4: 146,551,622 (GRCm39)	K448*	probably null	Het
Zfp994	T	C	17: 22,419,406 (GRCm39)	I514M	probably benign	Het
Zp2	A	T	7: 119,734,998 (GRCm39)	I429N	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
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
R7553:Vil1	UTSW	1	74,465,891 (GRCm39)	critical splice donor site	probably null
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'- GAGAGCCAAAATCCAAGCTGTC -3'
(R):5'- CAAGTGGGACCTGATAACCC -3'

Sequencing Primer
(F):5'- CCAAAATCCAAGCTGTCTTTGGG -3'
(R):5'- TTCTGTGACTGAGAAGGCCCAC -3'

Posted On

2019-11-12