Incidental Mutation 'IGL00162:Vil1'
ID 1983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vil1
Ensembl Gene ENSMUSG00000026175
Gene Name villin 1
Synonyms Villin
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # IGL00162
Quality Score
Status
Chromosome 1
Chromosomal Location 74448543-74474719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74463034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 406 (E406K)
Ref Sequence ENSEMBL: ENSMUSP00000027366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027366]
AlphaFold Q62468
Predicted Effect probably damaging
Transcript: ENSMUST00000027366
AA Change: E406K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: E406K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163018
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d1b T G 4: 108,484,575 (GRCm39) L470R probably damaging Het
Cd96 A T 16: 45,892,162 (GRCm39) N275K possibly damaging Het
Col22a1 A G 15: 71,732,807 (GRCm39) probably null Het
Cyb561 T C 11: 105,826,662 (GRCm39) H197R probably damaging Het
Dlgap1 T C 17: 70,823,080 (GRCm39) S22P probably benign Het
Dnajc6 A G 4: 101,365,286 (GRCm39) probably benign Het
Fgf6 A T 6: 127,001,048 (GRCm39) K185N possibly damaging Het
Fshr T C 17: 89,293,619 (GRCm39) N353S probably damaging Het
Gabbr1 T A 17: 37,359,335 (GRCm39) Y103* probably null Het
Gm7247 G A 14: 51,760,962 (GRCm39) C177Y possibly damaging Het
Hikeshi A G 7: 89,584,989 (GRCm39) F72L probably damaging Het
Ikzf4 T C 10: 128,470,416 (GRCm39) E368G probably benign Het
Kdm3b A G 18: 34,942,462 (GRCm39) E851G probably benign Het
Kif3b A G 2: 153,159,051 (GRCm39) D284G probably damaging Het
Kyat3 G A 3: 142,440,235 (GRCm39) A320T probably benign Het
Mok C T 12: 110,774,631 (GRCm39) probably benign Het
Mrgpra3 A G 7: 47,239,267 (GRCm39) F220L probably benign Het
Nr4a1 T C 15: 101,168,780 (GRCm39) V272A probably damaging Het
Or10ag58 A G 2: 87,265,407 (GRCm39) H192R probably benign Het
Or2ag19 A G 7: 106,444,574 (GRCm39) Y252C possibly damaging Het
Pikfyve T A 1: 65,299,280 (GRCm39) probably null Het
Plekhn1 T G 4: 156,307,820 (GRCm39) T369P probably damaging Het
Ptpn12 T C 5: 21,234,848 (GRCm39) E45G probably damaging Het
Ralgps1 A T 2: 33,027,694 (GRCm39) *516R probably null Het
Rps23rg1 A G 8: 3,633,904 (GRCm39) T2A probably benign Het
Senp6 A G 9: 80,023,892 (GRCm39) D385G probably damaging Het
Siglech T C 7: 55,422,339 (GRCm39) probably benign Het
Slit1 A G 19: 41,639,274 (GRCm39) L212P probably damaging Het
Smchd1 T A 17: 71,772,668 (GRCm39) probably benign Het
Snapc4 A T 2: 26,259,324 (GRCm39) C609S probably benign Het
Strn3 T C 12: 51,707,979 (GRCm39) T139A possibly damaging Het
Tcaf3 T C 6: 42,570,319 (GRCm39) T478A probably benign Het
Tlr3 A G 8: 45,853,727 (GRCm39) S198P probably damaging Het
Ttn C T 2: 76,720,823 (GRCm39) probably benign Het
Zfp462 A G 4: 55,011,483 (GRCm39) probably null Het
Zfyve9 A G 4: 108,499,304 (GRCm39) V1338A possibly damaging Het
Other mutations in Vil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2011-07-12