Incidental Mutation 'R7249:Svil'
ID 563788
Institutional Source Beutler Lab
Gene Symbol Svil
Ensembl Gene ENSMUSG00000024236
Gene Name supervillin
Synonyms B430302E16Rik
MMRRC Submission 045312-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R7249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 4920540-5119299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5056270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 381 (V381A)
Ref Sequence ENSEMBL: ENSMUSP00000025079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025079] [ENSMUST00000126977] [ENSMUST00000127297] [ENSMUST00000131609] [ENSMUST00000140448] [ENSMUST00000143254] [ENSMUST00000210707]
AlphaFold Q8K4L3
Predicted Effect probably benign
Transcript: ENSMUST00000025079
AA Change: V381A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000025079
Gene: ENSMUSG00000024236
AA Change: V381A

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: ENSMUST00000126977
AA Change: V381A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000115078
Gene: ENSMUSG00000024236
AA Change: V381A

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: ENSMUST00000127297
AA Change: V354A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115223
Gene: ENSMUSG00000024236
AA Change: V354A

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 benign
Transcript: ENSMUST00000131609
AA Change: V381A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122242
Gene: ENSMUSG00000024236
AA Change: V381A

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 benign
Transcript: ENSMUST00000140448
AA Change: V381A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236
AA Change: V381A

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
SMART Domains Protein: ENSMUSP00000119287
Gene: ENSMUSG00000024236

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: ENSMUST00000210707
AA Change: V468A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,974,970 (GRCm39) T38A probably benign Het
3425401B19Rik G T 14: 32,385,271 (GRCm39) S231R possibly damaging Het
Abi1 T C 2: 22,847,101 (GRCm39) E250G possibly damaging Het
Actl6b T A 5: 137,553,347 (GRCm39) S120T probably damaging Het
Adgrv1 G A 13: 81,522,378 (GRCm39) H5920Y probably damaging Het
Adra2c G A 5: 35,438,299 (GRCm39) R357H probably damaging Het
Ap3d1 T C 10: 80,577,767 (GRCm39) D20G probably damaging Het
Arfgef3 A T 10: 18,506,583 (GRCm39) D847E possibly damaging Het
Cacna1d T C 14: 29,864,660 (GRCm39) E434G probably damaging Het
Carm1 T C 9: 21,497,505 (GRCm39) Y356H probably benign Het
Clip1 T C 5: 123,741,663 (GRCm39) K1075R probably damaging Het
Cyp27b1 G T 10: 126,886,918 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,113,885 (GRCm39) V1769D possibly damaging Het
Dchs2 C T 3: 83,035,336 (GRCm39) Q28* probably null Het
Dpp4 A G 2: 62,215,547 (GRCm39) F107L probably benign Het
Eln AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC 5: 134,739,935 (GRCm39) probably benign Het
Faap24 A G 7: 35,094,485 (GRCm39) V105A probably benign Het
Gabra6 A T 11: 42,208,259 (GRCm39) D166E probably damaging Het
Gfpt1 A G 6: 87,033,126 (GRCm39) E117G probably damaging Het
H2-T10 T C 17: 36,430,269 (GRCm39) D224G probably damaging Het
Hspa12a T A 19: 58,793,865 (GRCm39) E332V probably benign Het
Htr5b T A 1: 121,438,203 (GRCm39) N343Y probably damaging Het
Irf8 C A 8: 121,466,571 (GRCm39) N5K possibly damaging Het
Itgb1 C A 8: 129,446,885 (GRCm39) Q467K probably benign Het
Itpr2 C A 6: 146,212,550 (GRCm39) C1522F probably damaging Het
Jmjd1c T A 10: 67,025,596 (GRCm39) L138I probably benign Het
Lrrc8b G T 5: 105,629,133 (GRCm39) R493L probably benign Het
Malrd1 G T 2: 15,628,151 (GRCm39) C400F probably damaging Het
Marchf8 G A 6: 116,383,195 (GRCm39) E257K probably benign Het
Mastl G A 2: 23,036,151 (GRCm39) H122Y probably damaging Het
Mis18a T C 16: 90,523,202 (GRCm39) K98R possibly damaging Het
Msra A G 14: 64,678,212 (GRCm39) V28A probably benign Het
Mtmr7 A G 8: 41,043,520 (GRCm39) V177A probably benign Het
Nelfcd T C 2: 174,264,999 (GRCm39) probably null Het
Nemp1 T C 10: 127,529,395 (GRCm39) S226P probably damaging Het
Nmnat1 G A 4: 149,554,099 (GRCm39) T147I probably null Het
Ntng2 A G 2: 29,118,004 (GRCm39) V148A probably benign Het
Nup214 A G 2: 31,878,245 (GRCm39) H304R possibly damaging Het
Or4a2 T C 2: 89,248,217 (GRCm39) Y180C probably damaging Het
Phldb2 C A 16: 45,621,977 (GRCm39) A623S probably damaging Het
Pitrm1 C T 13: 6,610,161 (GRCm39) T411I probably damaging Het
Pkn3 G A 2: 29,974,773 (GRCm39) R429Q probably benign Het
Plcb4 A G 2: 135,849,741 (GRCm39) probably null Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pnp G A 14: 51,188,887 (GRCm39) V227I probably benign Het
Pskh1 T C 8: 106,639,886 (GRCm39) S189P possibly damaging Het
Rbpms2 T G 9: 65,556,632 (GRCm39) V24G probably damaging Het
Robo3 T A 9: 37,336,129 (GRCm39) I446L probably benign Het
Septin8 A T 11: 53,425,949 (GRCm39) K174I probably damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Slco4a1 A G 2: 180,106,604 (GRCm39) Y262C probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spidr T C 16: 15,784,512 (GRCm39) S519G probably benign Het
Ssx2ip A G 3: 146,132,193 (GRCm39) N218S possibly damaging Het
Tep1 A T 14: 51,061,732 (GRCm39) C2595S possibly damaging Het
Tiam1 T C 16: 89,640,143 (GRCm39) Y858C probably damaging Het
Tie1 A G 4: 118,343,425 (GRCm39) V146A probably benign Het
Traf3ip1 G T 1: 91,455,361 (GRCm39) E578D probably damaging Het
Trim23 A G 13: 104,324,663 (GRCm39) Y247C probably damaging Het
Tsc2 A G 17: 24,826,729 (GRCm39) W896R probably damaging Het
Vmn1r157 T C 7: 22,461,125 (GRCm39) S2P probably benign Het
Xkr4 T A 1: 3,287,033 (GRCm39) T386S probably damaging Het
Zdhhc24 T G 19: 4,928,889 (GRCm39) V38G possibly damaging 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
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
R8774-TAIL: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 PCR Primer
(F):5'- GTCCTTAACTCAGAGGAGACAG -3'
(R):5'- AGAGGGATCTTTGTGGCCTC -3'

Sequencing Primer
(F):5'- ATTTCCTGCCTATCCAGTCAGAAAG -3'
(R):5'- GATCTTTGTGGCCTCTCACGAG -3'
Posted On 2019-06-26