Incidental Mutation 'R4488:Svil'
ID 330609
Institutional Source Beutler Lab
Gene Symbol Svil
Ensembl Gene ENSMUSG00000024236
Gene Name supervillin
Synonyms B430302E16Rik
MMRRC Submission 041744-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R4488 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 4920540-5119299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5049067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 202 (Y202H)
Ref Sequence ENSEMBL: ENSMUSP00000147843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025079] [ENSMUST00000126977] [ENSMUST00000127297] [ENSMUST00000131609] [ENSMUST00000140448] [ENSMUST00000143254] [ENSMUST00000210707] [ENSMUST00000153016]
AlphaFold Q8K4L3
Predicted Effect probably damaging
Transcript: ENSMUST00000025079
AA Change: Y115H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025079
Gene: ENSMUSG00000024236
AA Change: Y115H

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: Y115H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115078
Gene: ENSMUSG00000024236
AA Change: Y115H

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: Y115H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115223
Gene: ENSMUSG00000024236
AA Change: Y115H

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 noncoding transcript
Transcript: ENSMUST00000131210
Predicted Effect probably damaging
Transcript: ENSMUST00000131609
AA Change: Y115H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122242
Gene: ENSMUSG00000024236
AA Change: Y115H

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 noncoding transcript
Transcript: ENSMUST00000138258
Predicted Effect probably damaging
Transcript: ENSMUST00000140448
AA Change: Y115H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236
AA Change: Y115H

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 possibly damaging
Transcript: ENSMUST00000143254
AA Change: Y115H

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119287
Gene: ENSMUSG00000024236
AA Change: Y115H

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 damaging
Transcript: ENSMUST00000210707
AA Change: Y202H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000153016
Meta Mutation Damage Score 0.2091 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 95% (38/40)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkal1 A T 1: 6,429,631 (GRCm39) Q26L probably benign Het
Bltp1 A T 3: 37,058,082 (GRCm39) Q3224L probably null Het
Brox A G 1: 183,062,514 (GRCm39) L280S probably benign Het
Cep41 A T 6: 30,655,688 (GRCm39) probably benign Het
Cryz C A 3: 154,324,094 (GRCm39) probably benign Het
Cyp26c1 T C 19: 37,681,658 (GRCm39) V487A probably benign Het
Dlx6 T C 6: 6,867,207 (GRCm39) M270T probably damaging Het
Glb1 T C 9: 114,272,182 (GRCm39) I273T probably damaging Het
Glp1r A C 17: 31,137,905 (GRCm39) H112P probably benign Het
Grm6 T C 11: 50,750,816 (GRCm39) S660P probably damaging Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Hcrtr1 A G 4: 130,029,556 (GRCm39) V175A probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Kifbp A G 10: 62,398,806 (GRCm39) probably benign Het
Mki67 G A 7: 135,299,400 (GRCm39) T1878I probably benign Het
Ncoa6 A G 2: 155,249,396 (GRCm39) F1303L possibly damaging Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nutf2 T A 8: 106,603,059 (GRCm39) probably null Het
Or52e7 T C 7: 104,684,510 (GRCm39) F35S probably benign Het
Rbm45 T C 2: 76,206,740 (GRCm39) S251P probably damaging Het
Rnaset2b A G 17: 7,265,469 (GRCm39) Y155C probably damaging Het
Rnf122 A G 8: 31,618,283 (GRCm39) T92A probably damaging Het
Rnf220 A G 4: 117,347,011 (GRCm39) S134P probably damaging Het
Shprh A T 10: 11,036,215 (GRCm39) I351F probably benign Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Sulf1 G T 1: 12,856,739 (GRCm39) probably benign Het
Tek A G 4: 94,737,993 (GRCm39) D681G possibly damaging Het
Tra2a A G 6: 49,229,428 (GRCm39) probably benign Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r25 A T 6: 123,799,819 (GRCm39) I841N probably damaging Het
Zfp949 T C 9: 88,452,142 (GRCm39) S571P probably damaging Het
Zkscan16 A G 4: 58,957,431 (GRCm39) E571G possibly damaging Het
Zup1 G A 10: 33,824,960 (GRCm39) T174I probably 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
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
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'- TTTGTAGGGCGATCCAAAGAAG -3'
(R):5'- GCTCCTGGTCAGACATATTGC -3'

Sequencing Primer
(F):5'- AGAGGAAGACACTCCTGGGTCC -3'
(R):5'- GGTCAGACATATTGCTTCCCAG -3'
Posted On 2015-07-21