Incidental Mutation 'R8165:Vill'
ID 633729
Institutional Source Beutler Lab
Gene Symbol Vill
Ensembl Gene ENSMUSG00000038775
Gene Name villin-like
Synonyms Villp
MMRRC Submission 067591-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R8165 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 118881846-118900593 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118895821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 511 (F511Y)
Ref Sequence ENSEMBL: ENSMUSP00000061731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010804] [ENSMUST00000051386] [ENSMUST00000074734] [ENSMUST00000126251] [ENSMUST00000136561] [ENSMUST00000141185]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000010804
SMART Domains Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660

DomainStartEndE-ValueType
PH 22 132 9.41e-10 SMART
EFh 144 172 2.87e-2 SMART
EFh 180 208 9.34e1 SMART
Pfam:EF-hand_like 213 295 1.2e-23 PFAM
PLCXc 296 440 5.47e-94 SMART
low complexity region 461 472 N/A INTRINSIC
PLCYc 492 609 1.22e-68 SMART
C2 630 735 1.78e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000051386
AA Change: F511Y

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: F511Y

DomainStartEndE-ValueType
GEL 14 114 4.59e-13 SMART
GEL 135 227 4.18e-16 SMART
GEL 252 348 8.35e-25 SMART
GEL 391 488 7.92e-17 SMART
GEL 508 594 4.38e-19 SMART
GEL 613 706 7.8e-16 SMART
VHP 824 859 2.12e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000074734
AA Change: F511Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: F511Y

DomainStartEndE-ValueType
GEL 14 114 4.59e-13 SMART
GEL 135 227 4.18e-16 SMART
GEL 252 348 8.35e-25 SMART
GEL 391 488 7.92e-17 SMART
GEL 508 594 4.38e-19 SMART
VHP 740 775 2.12e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126251
AA Change: F66Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
AA Change: F66Y

DomainStartEndE-ValueType
Blast:GEL 1 56 9e-21 BLAST
GEL 63 149 4.38e-19 SMART
GEL 168 261 7.8e-16 SMART
VHP 357 392 2.12e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000136561
AA Change: F119Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123393
Gene: ENSMUSG00000038775
AA Change: F119Y

DomainStartEndE-ValueType
GEL 1 96 2.46e-13 SMART
Blast:GEL 116 140 2e-8 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000141185
AA Change: F127Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
AA Change: F127Y

DomainStartEndE-ValueType
GEL 7 104 7.92e-17 SMART
GEL 124 210 4.38e-19 SMART
GEL 229 322 7.8e-16 SMART
VHP 440 475 2.12e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153630
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,289 (GRCm39) probably null Het
Amph A G 13: 19,279,007 (GRCm39) K161E probably benign Het
Aox1 A T 1: 58,348,088 (GRCm39) H602L probably benign Het
Areg A G 5: 91,291,492 (GRCm39) N145S probably damaging Het
Arhgap29 C T 3: 121,782,222 (GRCm39) T142I probably damaging Het
Bcar3 C T 3: 122,304,805 (GRCm39) probably benign Het
Brpf3 C T 17: 29,025,248 (GRCm39) A107V probably benign Het
Btnl2 T A 17: 34,587,682 (GRCm39) S509T possibly damaging Het
Cacna2d2 A G 9: 107,402,653 (GRCm39) probably null Het
Casz1 C T 4: 149,028,888 (GRCm39) P1111L probably damaging Het
Ccdc91 C T 6: 147,533,086 (GRCm39) T411I unknown Het
Chd9 A C 8: 91,767,769 (GRCm39) E2422A probably damaging Het
Clrn3 T C 7: 135,130,133 (GRCm39) I34V probably benign Het
Cnksr3 C T 10: 7,104,467 (GRCm39) D79N probably damaging Het
Cops8 A G 1: 90,539,729 (GRCm39) probably null Het
Cpa2 A G 6: 30,564,345 (GRCm39) K392R probably benign Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Dnase1l3 T C 14: 7,994,299 (GRCm38) probably benign Het
Gdpd5 A T 7: 99,105,689 (GRCm39) T502S probably benign Het
Gp2 A T 7: 119,049,375 (GRCm39) D387E probably damaging Het
Gpr179 A G 11: 97,242,364 (GRCm39) L160P probably benign Het
Hmcn1 G A 1: 150,522,409 (GRCm39) T3497M probably benign Het
Idh3b T A 2: 130,122,420 (GRCm39) T322S possibly damaging Het
Kit A T 5: 75,781,540 (GRCm39) N323I possibly damaging Het
Kng2 T C 16: 22,806,246 (GRCm39) S445G unknown Het
Lin54 A G 5: 100,602,358 (GRCm39) V393A probably benign Het
Lyst T A 13: 13,872,945 (GRCm39) W2715R probably damaging Het
Mad1l1 T C 5: 140,300,813 (GRCm39) T28A probably benign Het
Med7 T A 11: 46,332,073 (GRCm39) C223S probably benign Het
Megf8 T A 7: 25,053,298 (GRCm39) L1823Q probably damaging Het
Mga C A 2: 119,777,719 (GRCm39) Q1755K probably benign Het
Mgat4b A T 11: 50,101,801 (GRCm39) N22I probably benign Het
Ndufb6 C T 4: 40,270,665 (GRCm39) probably null Het
Neil3 A G 8: 54,042,129 (GRCm39) L490P probably benign Het
Nek9 C T 12: 85,350,417 (GRCm39) V886I probably benign Het
Nol4l A T 2: 153,262,473 (GRCm39) Y366* probably null Het
Nt5dc2 A G 14: 30,860,886 (GRCm39) T354A probably damaging Het
Or1j11 T A 2: 36,311,715 (GRCm39) Y102N probably damaging Het
Pde2a G A 7: 101,149,655 (GRCm39) probably null Het
Phf1 T C 17: 27,156,044 (GRCm39) F444L possibly damaging Het
Plin4 G A 17: 56,414,019 (GRCm39) T202I possibly damaging Het
Plk4 G C 3: 40,768,009 (GRCm39) V851L probably damaging Het
Pp2d1 A G 17: 53,822,257 (GRCm39) S270P probably damaging Het
Ripor1 C A 8: 106,347,520 (GRCm39) L1028M unknown Het
Scn9a A G 2: 66,370,874 (GRCm39) F569L probably damaging Het
Sel1l2 T A 2: 140,104,626 (GRCm39) L306F probably damaging Het
Spic A T 10: 88,513,428 (GRCm39) S86T probably damaging Het
Spmip10 T A 18: 56,722,547 (GRCm39) probably benign Het
Stkld1 A G 2: 26,836,668 (GRCm39) N278S probably benign Het
Taar7d T A 10: 23,903,495 (GRCm39) F126I probably benign Het
Tbc1d31 A G 15: 57,824,345 (GRCm39) E869G possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Terf2 T C 8: 107,809,656 (GRCm39) K221E possibly damaging Het
Thsd7a T A 6: 12,468,962 (GRCm39) T539S Het
Tll2 A G 19: 41,077,313 (GRCm39) F818L possibly damaging Het
Tmem87a T C 2: 120,200,959 (GRCm39) T427A possibly damaging Het
Ush2a C A 1: 188,183,952 (GRCm39) Q1419K possibly damaging Het
Virma T A 4: 11,542,128 (GRCm39) D1521E probably benign Het
Vps13c A G 9: 67,766,072 (GRCm39) D63G probably benign Het
Vrk2 A G 11: 26,485,575 (GRCm39) F138L probably benign Het
Zfp710 T C 7: 79,735,775 (GRCm39) I514T probably damaging Het
Zgrf1 T A 3: 127,357,032 (GRCm39) F753I possibly damaging Het
Other mutations in Vill
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Vill APN 9 118,892,380 (GRCm39) missense probably damaging 1.00
IGL01024:Vill APN 9 118,899,418 (GRCm39) critical splice donor site probably null
IGL01934:Vill APN 9 118,895,877 (GRCm39) missense probably damaging 1.00
IGL02118:Vill APN 9 118,889,466 (GRCm39) missense probably benign 0.44
IGL02260:Vill APN 9 118,887,509 (GRCm39) missense probably benign 0.00
IGL02507:Vill APN 9 118,899,845 (GRCm39) missense possibly damaging 0.86
IGL02870:Vill APN 9 118,890,967 (GRCm39) missense probably damaging 1.00
IGL02941:Vill APN 9 118,895,955 (GRCm39) unclassified probably benign
IGL02835:Vill UTSW 9 118,896,513 (GRCm39) missense probably benign 0.11
R0285:Vill UTSW 9 118,899,895 (GRCm39) unclassified probably benign
R0571:Vill UTSW 9 118,899,701 (GRCm39) missense possibly damaging 0.93
R1024:Vill UTSW 9 118,895,892 (GRCm39) missense probably damaging 1.00
R1168:Vill UTSW 9 118,899,389 (GRCm39) missense probably damaging 0.99
R1374:Vill UTSW 9 118,890,562 (GRCm39) missense probably benign 0.03
R1400:Vill UTSW 9 118,892,415 (GRCm39) missense probably benign 0.01
R1551:Vill UTSW 9 118,892,440 (GRCm39) missense probably benign
R1584:Vill UTSW 9 118,894,654 (GRCm39) missense probably damaging 1.00
R1630:Vill UTSW 9 118,899,769 (GRCm39) missense probably benign 0.37
R1721:Vill UTSW 9 118,895,082 (GRCm39) missense probably damaging 0.98
R1946:Vill UTSW 9 118,887,560 (GRCm39) missense probably benign
R2311:Vill UTSW 9 118,894,965 (GRCm39) missense probably benign 0.08
R2392:Vill UTSW 9 118,896,628 (GRCm39) unclassified probably benign
R2509:Vill UTSW 9 118,899,370 (GRCm39) missense possibly damaging 0.84
R2760:Vill UTSW 9 118,895,950 (GRCm39) critical splice donor site probably null
R3886:Vill UTSW 9 118,895,782 (GRCm39) missense probably benign 0.24
R3944:Vill UTSW 9 118,897,499 (GRCm39) missense probably benign 0.10
R4245:Vill UTSW 9 118,900,359 (GRCm39) unclassified probably benign
R4246:Vill UTSW 9 118,889,461 (GRCm39) missense probably damaging 1.00
R4771:Vill UTSW 9 118,897,502 (GRCm39) missense probably damaging 1.00
R4889:Vill UTSW 9 118,892,409 (GRCm39) missense possibly damaging 0.50
R4932:Vill UTSW 9 118,890,579 (GRCm39) missense probably damaging 1.00
R4946:Vill UTSW 9 118,897,508 (GRCm39) missense probably damaging 1.00
R5121:Vill UTSW 9 118,899,093 (GRCm39) missense possibly damaging 0.92
R5646:Vill UTSW 9 118,900,230 (GRCm39) missense probably damaging 1.00
R6089:Vill UTSW 9 118,886,867 (GRCm39) missense probably benign 0.00
R6149:Vill UTSW 9 118,887,482 (GRCm39) missense possibly damaging 0.67
R6167:Vill UTSW 9 118,895,932 (GRCm39) missense probably damaging 0.98
R6318:Vill UTSW 9 118,892,716 (GRCm39) missense probably benign 0.15
R6319:Vill UTSW 9 118,892,716 (GRCm39) missense probably benign 0.15
R6590:Vill UTSW 9 118,890,975 (GRCm39) missense probably benign 0.04
R6690:Vill UTSW 9 118,890,975 (GRCm39) missense probably benign 0.04
R6889:Vill UTSW 9 118,894,950 (GRCm39) missense possibly damaging 0.58
R7207:Vill UTSW 9 118,900,281 (GRCm39) missense possibly damaging 0.64
R7353:Vill UTSW 9 118,894,561 (GRCm39) missense probably damaging 0.99
R7398:Vill UTSW 9 118,899,716 (GRCm39) missense probably benign 0.26
R7883:Vill UTSW 9 118,894,589 (GRCm39) nonsense probably null
R8281:Vill UTSW 9 118,887,547 (GRCm39) missense probably damaging 1.00
R8380:Vill UTSW 9 118,886,917 (GRCm39) missense probably benign 0.04
R8685:Vill UTSW 9 118,895,795 (GRCm39) missense probably benign 0.00
R8847:Vill UTSW 9 118,897,514 (GRCm39) missense probably damaging 0.99
R8968:Vill UTSW 9 118,892,671 (GRCm39) critical splice donor site probably null
R9290:Vill UTSW 9 118,890,562 (GRCm39) missense probably benign 0.03
RF005:Vill UTSW 9 118,889,507 (GRCm39) missense probably damaging 1.00
Z1176:Vill UTSW 9 118,899,033 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTCCTGCACATAGAGGAC -3'
(R):5'- ACCATCTCTGTGGACTAAGTCTG -3'

Sequencing Primer
(F):5'- CTGCACATAGAGGACGGCAAC -3'
(R):5'- ATCTCTGTGGACTAAGTCTGCAACTG -3'
Posted On 2020-07-13