Incidental Mutation 'R0104:Vil1'
ID17348
Institutional Source Beutler Lab
Gene Symbol Vil1
Ensembl Gene ENSMUSG00000026175
Gene Namevillin 1
Synonyms
MMRRC Submission 038390-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.488) question?
Stock #R0104 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location74409376-74435559 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74418366 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 53 (K53E)
Ref Sequence ENSEMBL: ENSMUSP00000027366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027366]
Predicted Effect probably benign
Transcript: ENSMUST00000027366
AA Change: K53E

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: K53E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
GEL 37 131 1.33e-18 SMART
GEL 153 248 6.68e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161087
Meta Mutation Damage Score 0.142 question?
Coding Region Coverage
  • 1x: 75.5%
  • 3x: 52.6%
  • 10x: 7.5%
  • 20x: 3.0%
Validation Efficiency 100% (37/37)
MGI Phenotype Strain: 1859841
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik C A 4: 124,610,676 A28S probably damaging Het
Arhgap5 A T 12: 52,516,717 D157V probably damaging Het
Cfap54 G T 10: 93,028,652 H142N probably damaging Het
Dpp10 A T 1: 123,367,843 M525K probably benign Het
Fsip2 A T 2: 82,978,973 T1879S possibly damaging Het
Gm14129 T C 2: 148,931,573 noncoding transcript Het
Ighv2-7 A T 12: 113,807,468 W66R probably damaging Het
Kif11 T A 19: 37,413,215 V880D probably benign Het
Mcpt1 T A 14: 56,019,431 M142K possibly damaging Het
Mlst8 T C 17: 24,476,117 N264S possibly damaging Het
Nmrk1 T A 19: 18,641,218 S88R probably benign Het
Olfr113 T A 17: 37,574,926 I166F probably damaging Het
Olfr930 A G 9: 38,930,965 S265G possibly damaging Het
Rtn1 A T 12: 72,308,845 I109N probably damaging Het
Slc15a2 T A 16: 36,774,635 L156F possibly damaging Het
Slc22a21 A C 11: 53,951,809 M498R probably null Het
Ssc5d T C 7: 4,936,286 S574P probably benign Het
Taf2 T C 15: 55,038,338 D820G probably benign Het
Tas2r135 A T 6: 42,406,324 I266F possibly damaging Het
Tcrg-V4 C T 13: 19,185,310 H75Y probably damaging Het
Zfc3h1 T A 10: 115,415,287 M1261K possibly damaging Het
Zfp655 T C 5: 145,244,015 S228P probably damaging Het
Zfyve9 C A 4: 108,718,163 D574Y probably damaging Het
Other mutations in Vil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Vil1 APN 1 74423875 missense probably damaging 1.00
IGL00703:Vil1 APN 1 74423960 missense possibly damaging 0.61
IGL01011:Vil1 APN 1 74434887 unclassified probably null
IGL01314:Vil1 APN 1 74428238 missense probably damaging 1.00
IGL01772:Vil1 APN 1 74415119 missense probably benign
IGL02378:Vil1 APN 1 74430691 splice site probably null
IGL02517:Vil1 APN 1 74426692 missense probably benign 0.43
IGL02955:Vil1 APN 1 74418523 missense probably benign 0.10
IGL03036:Vil1 APN 1 74419612 missense probably damaging 1.00
R0241:Vil1 UTSW 1 74426694 missense probably damaging 1.00
R0241:Vil1 UTSW 1 74426694 missense probably damaging 1.00
R0496:Vil1 UTSW 1 74421340 missense possibly damaging 0.88
R1329:Vil1 UTSW 1 74427558 missense probably benign 0.00
R1824:Vil1 UTSW 1 74418447 missense probably benign 0.00
R1916:Vil1 UTSW 1 74418525 missense probably benign
R2188:Vil1 UTSW 1 74427565 missense probably benign 0.22
R2216:Vil1 UTSW 1 74425679 missense probably benign 0.05
R3808:Vil1 UTSW 1 74427613 missense probably benign
R3939:Vil1 UTSW 1 74432415 missense probably benign 0.09
R4288:Vil1 UTSW 1 74418525 missense probably benign
R4648:Vil1 UTSW 1 74432298 missense probably benign
R4748:Vil1 UTSW 1 74421266 missense probably damaging 1.00
R5333:Vil1 UTSW 1 74432390 missense probably benign
R5429:Vil1 UTSW 1 74432331 missense probably benign 0.05
R5973:Vil1 UTSW 1 74416033 missense possibly damaging 0.93
R6007:Vil1 UTSW 1 74419867 missense probably damaging 1.00
R6247:Vil1 UTSW 1 74432339 missense probably benign
R6306:Vil1 UTSW 1 74421311 missense possibly damaging 0.90
R6989:Vil1 UTSW 1 74423954 missense probably damaging 0.99
Posted On2013-01-20