Incidental Mutation 'R8774-TAIL:Svil'
ID 668002
Institutional Source Beutler Lab
Gene Symbol Svil
Ensembl Gene ENSMUSG00000024236
Gene Name supervillin
Synonyms B430302E16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R8774-TAIL
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 4920540-5119299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5049068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 115 (Y115F)
Ref Sequence ENSEMBL: ENSMUSP00000025079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025079] [ENSMUST00000126977] [ENSMUST00000127297] [ENSMUST00000131609] [ENSMUST00000140448] [ENSMUST00000143254] [ENSMUST00000153016] [ENSMUST00000210707]
AlphaFold Q8K4L3
Predicted Effect probably damaging
Transcript: ENSMUST00000025079
AA Change: Y115F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025079
Gene: ENSMUSG00000024236
AA Change: Y115F

DomainStartEndE-ValueType
low complexity region 1181 1191 N/A INTRINSIC
GEL 1397 1496 4.58e-22 SMART
GEL 1521 1638 4.03e-1 SMART
GEL 1708 1818 2.93e-20 SMART
low complexity region 1825 1831 N/A INTRINSIC
GEL 1837 1938 1.72e-17 SMART
GEL 1971 2078 1.37e0 SMART
VHP 2135 2170 1.15e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126977
AA Change: Y115F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115078
Gene: ENSMUSG00000024236
AA Change: Y115F

DomainStartEndE-ValueType
low complexity region 1181 1191 N/A INTRINSIC
GEL 1397 1496 4.58e-22 SMART
GEL 1521 1638 4.03e-1 SMART
GEL 1708 1818 2.93e-20 SMART
low complexity region 1825 1831 N/A INTRINSIC
GEL 1837 1938 1.72e-17 SMART
GEL 1971 2078 1.37e0 SMART
VHP 2135 2170 1.15e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127297
AA Change: Y115F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115223
Gene: ENSMUSG00000024236
AA Change: Y115F

DomainStartEndE-ValueType
low complexity region 1067 1077 N/A INTRINSIC
GEL 1283 1382 4.58e-22 SMART
GEL 1407 1524 4.03e-1 SMART
GEL 1594 1704 2.93e-20 SMART
low complexity region 1711 1717 N/A INTRINSIC
GEL 1723 1824 1.72e-17 SMART
GEL 1857 1964 1.37e0 SMART
VHP 2021 2056 1.15e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131609
AA Change: Y115F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122242
Gene: ENSMUSG00000024236
AA Change: Y115F

DomainStartEndE-ValueType
low complexity region 1181 1191 N/A INTRINSIC
GEL 1397 1496 2.9e-24 SMART
GEL 1521 1638 2.5e-3 SMART
GEL 1708 1818 1.9e-22 SMART
low complexity region 1825 1831 N/A INTRINSIC
GEL 1837 1938 1.1e-19 SMART
low complexity region 1965 1974 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140448
AA Change: Y115F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236
AA Change: Y115F

DomainStartEndE-ValueType
low complexity region 1181 1191 N/A INTRINSIC
GEL 1397 1496 4.58e-22 SMART
GEL 1521 1638 4.03e-1 SMART
GEL 1708 1818 2.93e-20 SMART
low complexity region 1825 1831 N/A INTRINSIC
GEL 1837 1938 1.72e-17 SMART
GEL 1971 2078 1.37e0 SMART
VHP 2135 2170 1.15e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143254
AA Change: Y115F

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119287
Gene: ENSMUSG00000024236
AA Change: Y115F

DomainStartEndE-ValueType
low complexity region 777 787 N/A INTRINSIC
GEL 993 1092 4.58e-22 SMART
GEL 1117 1234 4.03e-1 SMART
GEL 1304 1414 2.93e-20 SMART
low complexity region 1421 1427 N/A INTRINSIC
GEL 1433 1534 1.72e-17 SMART
GEL 1567 1674 1.37e0 SMART
VHP 1731 1766 1.15e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153016
Predicted Effect probably damaging
Transcript: ENSMUST00000210707
AA Change: Y202F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanched adhesion and thrombus formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,090,358 (GRCm39) S364P possibly damaging Het
Abcc2 T A 19: 43,787,577 (GRCm39) Y208N probably damaging Het
Acy1 A T 9: 106,313,913 (GRCm39) D82E probably damaging Het
Ankub1 A G 3: 57,597,802 (GRCm39) L56P probably damaging Het
Aoc1 T A 6: 48,885,529 (GRCm39) F678Y probably damaging Het
Asxl3 C A 18: 22,657,101 (GRCm39) Q1704K probably damaging Het
Atg9b T C 5: 24,595,571 (GRCm39) D236G probably damaging Het
Auh A T 13: 52,993,631 (GRCm39) M261K probably benign Het
Blm TCC TCCGCC 7: 80,162,655 (GRCm39) probably benign Het
Blm TCC TCCGCC 7: 80,162,667 (GRCm39) probably benign Het
Blm CTC CTCATC 7: 80,162,666 (GRCm39) probably benign Het
C2cd6 A T 1: 59,099,825 (GRCm39) M372K possibly damaging Het
Ccdc88b A T 19: 6,825,090 (GRCm39) N1287K probably damaging Het
Cebpz A G 17: 79,229,073 (GRCm39) S958P probably benign Het
Cgn T A 3: 94,680,810 (GRCm39) Q576L probably damaging Het
Chd7 T A 4: 8,854,692 (GRCm39) M2011K probably damaging Het
Cntnap4 A G 8: 113,529,820 (GRCm39) E676G probably benign Het
Cspp1 A T 1: 10,183,139 (GRCm39) E781D possibly damaging Het
Cyb5d2 A C 11: 72,679,901 (GRCm39) probably null Het
Epn3 G T 11: 94,383,220 (GRCm39) P335T possibly damaging Het
Far2 T A 6: 148,047,629 (GRCm39) S103T probably benign Het
Fhip1a G C 3: 85,580,097 (GRCm39) Q703E probably benign Het
Fhl2 A G 1: 43,162,751 (GRCm39) S255P probably damaging Het
Fmnl2 T A 2: 52,932,321 (GRCm39) V100D Het
Gabbr1 T C 17: 37,382,749 (GRCm39) L814P probably damaging Het
Gzmg C T 14: 56,394,193 (GRCm39) V234I probably benign Het
Ift172 A G 5: 31,415,207 (GRCm39) V1334A probably benign Het
Itga8 C G 2: 12,187,495 (GRCm39) G728A probably damaging Het
Klrg1 T C 6: 122,255,193 (GRCm39) T80A probably benign Het
Lrp4 A G 2: 91,308,043 (GRCm39) N496S probably benign Het
Lsmem1 G T 12: 40,227,145 (GRCm39) N113K probably damaging Het
Map3k2 G A 18: 32,345,117 (GRCm39) S314N probably damaging Het
Mtpap C T 18: 4,387,032 (GRCm39) R361* probably null Het
Muc5b T A 7: 141,418,831 (GRCm39) S3926T probably benign Het
Nat10 C A 2: 103,561,752 (GRCm39) R643L probably damaging Het
Ncbp3 T C 11: 72,938,808 (GRCm39) V28A probably benign Het
Nlrp9a T C 7: 26,257,984 (GRCm39) L534P possibly damaging Het
Nmi T C 2: 51,848,974 (GRCm39) K39E probably benign Het
Nxpe4 A G 9: 48,304,692 (GRCm39) N260D probably benign Het
Or4k38 T C 2: 111,166,318 (GRCm39) Y35C probably damaging Het
Or51aa2 C A 7: 103,187,965 (GRCm39) V159L probably benign Het
Or6c213 T A 10: 129,573,926 (GRCm39) I287F probably damaging Het
Or8c19-ps1 G A 9: 38,220,600 (GRCm39) A170T unknown Het
Pirb G T 7: 3,720,728 (GRCm39) L257M probably damaging Het
Plcg2 A T 8: 118,306,585 (GRCm39) D313V possibly damaging Het
Ppard G A 17: 28,517,864 (GRCm39) V311I possibly damaging Het
Ptcd1 A T 5: 145,092,175 (GRCm39) M308K probably damaging Het
Pygo1 A G 9: 72,852,436 (GRCm39) N208D possibly damaging Het
Robo1 T G 16: 72,832,719 (GRCm39) D1497E probably benign Het
Sdk2 T C 11: 113,730,169 (GRCm39) D1022G probably damaging Het
Shc3 G A 13: 51,615,475 (GRCm39) H161Y probably damaging Het
Slc15a1 G T 14: 121,724,423 (GRCm39) Q150K probably damaging Het
Sod1 T G 16: 90,023,039 (GRCm39) V120G probably damaging Het
Spata31g1 T C 4: 42,971,087 (GRCm39) L140P probably damaging Het
Sprr2f T A 3: 92,273,323 (GRCm39) C41S unknown Het
Tdp1 T C 12: 99,877,917 (GRCm39) S400P probably damaging Het
Thbs4 A T 13: 92,898,030 (GRCm39) D596E probably damaging Het
Tshz1 T A 18: 84,033,101 (GRCm39) M436L possibly damaging Het
Ube3c C T 5: 29,812,029 (GRCm39) T423I probably benign Het
Unc93a A T 17: 13,341,837 (GRCm39) I98N probably damaging Het
Usp33 T A 3: 152,085,213 (GRCm39) Y624* probably null Het
Vmn1r217 T A 13: 23,298,108 (GRCm39) M265L probably benign Het
Vmn1r222 A T 13: 23,416,418 (GRCm39) M265K probably benign Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Zfp867 A G 11: 59,354,837 (GRCm39) F164S probably damaging Het
Zswim1 C T 2: 164,668,062 (GRCm39) T438I probably benign Het
Other mutations in Svil
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Svil APN 18 5,099,045 (GRCm39) missense probably benign 0.27
IGL00840:Svil APN 18 5,063,555 (GRCm39) missense probably benign
IGL01329:Svil APN 18 5,064,501 (GRCm39) missense probably benign
IGL01446:Svil APN 18 5,062,385 (GRCm39) missense probably damaging 1.00
IGL02068:Svil APN 18 5,092,899 (GRCm39) missense probably damaging 1.00
IGL02223:Svil APN 18 5,105,879 (GRCm39) splice site probably benign
IGL02428:Svil APN 18 5,118,203 (GRCm39) missense probably damaging 1.00
IGL02429:Svil APN 18 5,118,369 (GRCm39) missense probably benign 0.00
IGL02479:Svil APN 18 5,099,476 (GRCm39) missense probably damaging 1.00
IGL02560:Svil APN 18 5,049,379 (GRCm39) missense probably benign 0.00
IGL02652:Svil APN 18 5,114,531 (GRCm39) missense probably damaging 1.00
IGL03291:Svil APN 18 5,056,150 (GRCm39) nonsense probably null
R3779_Svil_985 UTSW 18 5,090,855 (GRCm39) missense probably damaging 0.97
R5433_Svil_176 UTSW 18 5,059,294 (GRCm39) missense probably damaging 0.99
R6062_Svil_873 UTSW 18 5,106,724 (GRCm39) missense probably damaging 1.00
BB002:Svil UTSW 18 5,118,357 (GRCm39) missense probably benign 0.00
BB012:Svil UTSW 18 5,118,357 (GRCm39) missense probably benign 0.00
IGL03055:Svil UTSW 18 5,108,615 (GRCm39) missense probably damaging 1.00
R0029:Svil UTSW 18 5,063,286 (GRCm39) missense probably benign 0.14
R0029:Svil UTSW 18 5,063,286 (GRCm39) missense probably benign 0.14
R0266:Svil UTSW 18 5,099,063 (GRCm39) splice site probably benign
R0281:Svil UTSW 18 5,094,582 (GRCm39) missense probably damaging 1.00
R0442:Svil UTSW 18 5,046,870 (GRCm39) missense probably damaging 1.00
R0549:Svil UTSW 18 5,064,566 (GRCm39) missense possibly damaging 0.79
R0617:Svil UTSW 18 5,117,002 (GRCm39) missense probably damaging 1.00
R0801:Svil UTSW 18 5,099,443 (GRCm39) missense probably benign 0.00
R0894:Svil UTSW 18 5,097,494 (GRCm39) missense probably damaging 1.00
R1053:Svil UTSW 18 5,056,690 (GRCm39) missense probably benign 0.16
R1065:Svil UTSW 18 5,063,777 (GRCm39) splice site probably benign
R1080:Svil UTSW 18 5,058,147 (GRCm39) missense possibly damaging 0.79
R1199:Svil UTSW 18 5,059,217 (GRCm39) splice site probably benign
R1472:Svil UTSW 18 5,048,950 (GRCm39) missense probably benign 0.09
R1480:Svil UTSW 18 5,057,345 (GRCm39) missense probably damaging 1.00
R1544:Svil UTSW 18 5,046,817 (GRCm39) missense possibly damaging 0.93
R1626:Svil UTSW 18 5,117,099 (GRCm39) critical splice donor site probably null
R1691:Svil UTSW 18 5,056,336 (GRCm39) missense probably benign 0.06
R1812:Svil UTSW 18 5,097,545 (GRCm39) missense probably damaging 1.00
R1826:Svil UTSW 18 5,063,383 (GRCm39) missense probably benign 0.01
R1842:Svil UTSW 18 5,062,373 (GRCm39) missense probably damaging 1.00
R1884:Svil UTSW 18 5,094,640 (GRCm39) missense possibly damaging 0.94
R1945:Svil UTSW 18 5,117,059 (GRCm39) missense probably damaging 1.00
R2184:Svil UTSW 18 5,099,615 (GRCm39) missense probably damaging 1.00
R2184:Svil UTSW 18 5,099,534 (GRCm39) missense probably damaging 1.00
R2232:Svil UTSW 18 5,046,640 (GRCm39) start codon destroyed probably null 0.98
R2398:Svil UTSW 18 5,060,613 (GRCm39) splice site probably null
R3076:Svil UTSW 18 5,116,055 (GRCm39) missense probably damaging 1.00
R3777:Svil UTSW 18 5,090,855 (GRCm39) missense probably damaging 0.97
R3779:Svil UTSW 18 5,090,855 (GRCm39) missense probably damaging 0.97
R3797:Svil UTSW 18 5,060,534 (GRCm39) missense probably benign 0.29
R4077:Svil UTSW 18 5,063,522 (GRCm39) missense probably benign 0.03
R4350:Svil UTSW 18 5,118,154 (GRCm39) missense probably damaging 1.00
R4379:Svil UTSW 18 5,046,909 (GRCm39) missense probably damaging 1.00
R4488:Svil UTSW 18 5,049,067 (GRCm39) missense probably damaging 1.00
R4777:Svil UTSW 18 5,088,813 (GRCm39) missense probably damaging 0.99
R4825:Svil UTSW 18 5,114,564 (GRCm39) missense probably damaging 1.00
R4921:Svil UTSW 18 5,108,631 (GRCm39) missense probably damaging 1.00
R4969:Svil UTSW 18 5,095,516 (GRCm39) missense probably damaging 1.00
R4975:Svil UTSW 18 5,054,025 (GRCm39) missense possibly damaging 0.61
R4990:Svil UTSW 18 5,056,810 (GRCm39) missense probably benign 0.05
R4991:Svil UTSW 18 5,056,810 (GRCm39) missense probably benign 0.05
R5061:Svil UTSW 18 5,048,954 (GRCm39) missense probably benign 0.02
R5271:Svil UTSW 18 5,062,329 (GRCm39) missense probably benign 0.45
R5362:Svil UTSW 18 5,057,345 (GRCm39) missense probably damaging 1.00
R5433:Svil UTSW 18 5,059,294 (GRCm39) missense probably damaging 0.99
R5677:Svil UTSW 18 5,046,823 (GRCm39) nonsense probably null
R5850:Svil UTSW 18 5,098,900 (GRCm39) splice site probably null
R5868:Svil UTSW 18 5,056,854 (GRCm39) splice site probably null
R5871:Svil UTSW 18 5,103,669 (GRCm39) splice site probably null
R5876:Svil UTSW 18 5,082,828 (GRCm39) missense probably damaging 1.00
R6061:Svil UTSW 18 5,106,724 (GRCm39) missense probably damaging 1.00
R6062:Svil UTSW 18 5,106,724 (GRCm39) missense probably damaging 1.00
R6063:Svil UTSW 18 5,106,724 (GRCm39) missense probably damaging 1.00
R6065:Svil UTSW 18 5,106,724 (GRCm39) missense probably damaging 1.00
R6066:Svil UTSW 18 5,106,724 (GRCm39) missense probably damaging 1.00
R6114:Svil UTSW 18 5,108,639 (GRCm39) missense probably damaging 1.00
R6115:Svil UTSW 18 5,108,675 (GRCm39) missense probably damaging 0.99
R6117:Svil UTSW 18 5,116,016 (GRCm39) missense probably damaging 1.00
R6302:Svil UTSW 18 5,057,432 (GRCm39) missense probably benign 0.13
R6418:Svil UTSW 18 5,040,171 (GRCm39) missense probably benign 0.26
R6441:Svil UTSW 18 5,049,323 (GRCm39) missense probably benign
R6446:Svil UTSW 18 5,057,323 (GRCm39) missense probably benign 0.09
R6455:Svil UTSW 18 5,056,629 (GRCm39) missense possibly damaging 0.89
R6545:Svil UTSW 18 5,108,621 (GRCm39) missense probably benign 0.00
R6692:Svil UTSW 18 5,082,853 (GRCm39) missense probably damaging 1.00
R6730:Svil UTSW 18 5,049,311 (GRCm39) missense probably benign 0.17
R6763:Svil UTSW 18 5,056,437 (GRCm39) missense probably damaging 0.99
R6870:Svil UTSW 18 5,063,231 (GRCm39) missense possibly damaging 0.86
R6916:Svil UTSW 18 5,114,682 (GRCm39) utr 3 prime probably benign
R7134:Svil UTSW 18 5,116,080 (GRCm39) missense probably damaging 1.00
R7190:Svil UTSW 18 5,092,937 (GRCm39) missense probably benign 0.01
R7213:Svil UTSW 18 5,094,574 (GRCm39) missense probably damaging 0.99
R7249:Svil UTSW 18 5,062,247 (GRCm39) missense probably damaging 0.99
R7249:Svil UTSW 18 5,056,270 (GRCm39) missense probably benign 0.01
R7421:Svil UTSW 18 5,056,109 (GRCm39) missense probably benign 0.18
R7571:Svil UTSW 18 5,114,636 (GRCm39) missense probably damaging 1.00
R7574:Svil UTSW 18 5,095,188 (GRCm39) missense probably benign 0.16
R7645:Svil UTSW 18 5,099,663 (GRCm39) missense probably damaging 1.00
R7925:Svil UTSW 18 5,118,357 (GRCm39) missense probably benign 0.00
R8113:Svil UTSW 18 5,062,385 (GRCm39) missense probably damaging 1.00
R8263:Svil UTSW 18 5,108,679 (GRCm39) missense probably damaging 1.00
R8485:Svil UTSW 18 5,064,566 (GRCm39) missense probably benign 0.03
R8491:Svil UTSW 18 5,106,678 (GRCm39) missense probably damaging 1.00
R8752:Svil UTSW 18 5,060,366 (GRCm39) intron probably benign
R8774:Svil UTSW 18 5,049,068 (GRCm39) missense probably damaging 1.00
R8780:Svil UTSW 18 5,063,449 (GRCm39) missense probably benign 0.00
R8787:Svil UTSW 18 5,059,332 (GRCm39) nonsense probably null
R8790:Svil UTSW 18 5,056,098 (GRCm39) missense possibly damaging 0.82
R8974:Svil UTSW 18 5,099,650 (GRCm39) missense probably damaging 1.00
R9029:Svil UTSW 18 5,056,239 (GRCm39) missense probably benign
R9072:Svil UTSW 18 5,097,500 (GRCm39) missense probably benign 0.23
R9073:Svil UTSW 18 5,097,500 (GRCm39) missense probably benign 0.23
R9079:Svil UTSW 18 5,056,308 (GRCm39) missense probably benign 0.31
R9181:Svil UTSW 18 5,090,833 (GRCm39) missense possibly damaging 0.75
R9363:Svil UTSW 18 5,037,155 (GRCm39) missense probably benign 0.02
R9377:Svil UTSW 18 5,057,294 (GRCm39) missense probably benign 0.06
R9381:Svil UTSW 18 5,099,013 (GRCm39) missense probably benign 0.06
R9389:Svil UTSW 18 5,090,811 (GRCm39) missense possibly damaging 0.52
R9566:Svil UTSW 18 5,099,661 (GRCm39) missense probably damaging 1.00
R9607:Svil UTSW 18 5,058,126 (GRCm39) missense possibly damaging 0.92
R9716:Svil UTSW 18 5,062,370 (GRCm39) missense probably damaging 1.00
R9801:Svil UTSW 18 5,049,062 (GRCm39) missense probably damaging 1.00
X0065:Svil UTSW 18 5,062,317 (GRCm39) missense probably damaging 1.00
Z1177:Svil UTSW 18 5,062,344 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2021-03-08