Incidental Mutation 'R7481:Vil1'
ID 579775
Institutional Source Beutler Lab
Gene Symbol Vil1
Ensembl Gene ENSMUSG00000026175
Gene Name villin 1
Synonyms Villin
MMRRC Submission 045555-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R7481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 74448543-74474719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 74459058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 187 (R187S)
Ref Sequence ENSEMBL: ENSMUSP00000027366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027366]
AlphaFold Q62468
Predicted Effect probably damaging
Transcript: ENSMUST00000027366
AA Change: R187S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027366
Gene: ENSMUSG00000026175
AA Change: R187S

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
SMART Domains Protein: ENSMUSP00000123786
Gene: ENSMUSG00000026175
AA Change: R88S

DomainStartEndE-ValueType
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: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,575 (GRCm39) F68S unknown Het
Abcb6 A G 1: 75,150,248 (GRCm39) F637L probably damaging Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Arhgap45 A T 10: 79,858,134 (GRCm39) H387L possibly damaging Het
Avil C T 10: 126,843,460 (GRCm39) T130I probably benign Het
Bmal2 G A 6: 146,720,369 (GRCm39) A178T not run Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C3 C A 17: 57,527,136 (GRCm39) W771L probably damaging Het
C6 A G 15: 4,844,357 (GRCm39) I926M Het
Cacna1b G A 2: 24,506,874 (GRCm39) L1903F probably damaging Het
Car3 A T 3: 14,928,632 (GRCm39) M1L probably benign Het
Ccdc175 A G 12: 72,202,398 (GRCm39) I299T probably benign Het
Chd9 C T 8: 91,683,066 (GRCm39) T502I unknown Het
Clec4a1 G A 6: 122,904,998 (GRCm39) C99Y probably damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dmbt1 A T 7: 130,681,241 (GRCm39) probably null Het
Dop1a A T 9: 86,417,985 (GRCm39) K1951N probably damaging Het
Dpf3 A C 12: 83,378,701 (GRCm39) L122R probably damaging Het
Edem3 A T 1: 151,683,973 (GRCm39) S687C probably damaging Het
Edem3 G A 1: 151,683,974 (GRCm39) S687N possibly damaging Het
Fig4 A G 10: 41,106,001 (GRCm39) probably null Het
Fmnl2 A G 2: 52,998,443 (GRCm39) T603A unknown Het
Frmd6 T A 12: 70,933,829 (GRCm39) L249Q probably damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm6133 A T 18: 78,393,008 (GRCm39) M1L probably benign Het
Gm9195 G A 14: 72,720,116 (GRCm39) T105I probably benign Het
Hk2 G A 6: 82,737,150 (GRCm39) T54I probably benign Het
Jade1 G A 3: 41,559,125 (GRCm39) G402D probably benign Het
Kmt2a T C 9: 44,720,368 (GRCm39) D3873G unknown Het
Map6 A T 7: 98,918,345 (GRCm39) T373S possibly damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mtcl3 G T 10: 29,072,519 (GRCm39) V604L probably damaging Het
Mtus1 T A 8: 41,537,652 (GRCm39) K21N probably damaging Het
Muc5b C T 7: 141,414,908 (GRCm39) T2618I unknown Het
Nbas A G 12: 13,406,960 (GRCm39) I852M probably damaging Het
Or14j1 T A 17: 38,146,289 (GRCm39) M133K probably damaging Het
Or4a70 C T 2: 89,324,636 (GRCm39) V7I probably benign Het
Or5b121 A T 19: 13,507,817 (GRCm39) Q304L probably damaging Het
Or5d39 A G 2: 87,980,105 (GRCm39) I86T probably benign Het
Pank4 A G 4: 155,054,495 (GRCm39) N156S probably damaging Het
Pcdhga8 A G 18: 37,860,990 (GRCm39) E682G probably benign Het
Pde10a C A 17: 9,168,262 (GRCm39) D312E possibly damaging Het
Pkhd1l1 A G 15: 44,376,307 (GRCm39) T990A probably benign Het
Rab11fip1 T C 8: 27,646,609 (GRCm39) T156A probably damaging Het
Rhbdd2 T A 5: 135,665,031 (GRCm39) S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ryr3 C A 2: 112,508,438 (GRCm39) R3418S probably benign Het
Ryr3 C A 2: 112,508,439 (GRCm39) R3418M possibly damaging Het
Sbno2 G A 10: 79,893,333 (GRCm39) P1323S probably benign Het
Sec24d T C 3: 123,144,412 (GRCm39) C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Skp2 A T 15: 9,113,905 (GRCm39) V371E probably damaging Het
Strbp A T 2: 37,490,766 (GRCm39) S496R probably benign Het
Stxbp4 G A 11: 90,485,639 (GRCm39) T236I possibly damaging Het
Terf2 C T 8: 107,799,353 (GRCm39) probably null Het
Thnsl1 A T 2: 21,216,599 (GRCm39) T118S probably benign Het
Tlnrd1 A T 7: 83,531,546 (GRCm39) V295E probably damaging Het
Ttll6 A G 11: 96,045,672 (GRCm39) T630A probably benign Het
Usp9y G T Y: 1,432,180 (GRCm39) A435E probably benign Het
Vmn2r31 A T 7: 7,387,579 (GRCm39) V664E possibly damaging Het
Wdr17 T C 8: 55,114,371 (GRCm39) I693M probably benign Het
Wdr82 C T 9: 106,053,865 (GRCm39) T72I probably damaging Het
Zbtb5 A G 4: 44,994,905 (GRCm39) S160P probably benign Het
Zfat G A 15: 68,050,715 (GRCm39) Q769* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign Het
Zglp1 C T 9: 20,973,903 (GRCm39) S261N probably benign Het
Other mutations in Vil1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGCTAAGAACTGAGCCTGAG -3'
(R):5'- AAGCAGTATGCCTCTTCATGTAC -3'

Sequencing Primer
(F):5'- CCTGAGGGGGCAGAAGG -3'
(R):5'- TGCCTCTTCATGTACATAGAGAC -3'
Posted On 2019-10-07