Incidental Mutation 'R1626:Svil'
ID 172532
Institutional Source Beutler Lab
Gene Symbol Svil
Ensembl Gene ENSMUSG00000024236
Gene Name supervillin
Synonyms B430302E16Rik
MMRRC Submission 039663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R1626 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 4920540-5119299 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 5117099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025079] [ENSMUST00000126977] [ENSMUST00000127297] [ENSMUST00000131609] [ENSMUST00000140448] [ENSMUST00000143254] [ENSMUST00000210707]
AlphaFold Q8K4L3
Predicted Effect probably null
Transcript: ENSMUST00000025079
SMART Domains Protein: ENSMUSP00000025079
Gene: ENSMUSG00000024236

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: ENSMUST00000125512
SMART Domains Protein: ENSMUSP00000121972
Gene: ENSMUSG00000024236

DomainStartEndE-ValueType
low complexity region 168 178 N/A INTRINSIC
GEL 384 483 4.58e-22 SMART
GEL 508 625 4.03e-1 SMART
Blast:GEL 695 733 1e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000126977
SMART Domains Protein: ENSMUSP00000115078
Gene: ENSMUSG00000024236

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 null
Transcript: ENSMUST00000127297
SMART Domains Protein: ENSMUSP00000115223
Gene: ENSMUSG00000024236

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: ENSMUST00000129543
Predicted Effect probably benign
Transcript: ENSMUST00000131609
SMART Domains Protein: ENSMUSP00000122242
Gene: ENSMUSG00000024236

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 null
Transcript: ENSMUST00000140448
SMART Domains Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236

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 null
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 null
Transcript: ENSMUST00000210707
Predicted Effect probably benign
Transcript: ENSMUST00000146723
SMART Domains Protein: ENSMUSP00000115591
Gene: ENSMUSG00000024236

DomainStartEndE-ValueType
Blast:GEL 2 37 1e-17 BLAST
SCOP:d1d0na6 53 168 3e-19 SMART
Blast:GEL 63 169 1e-72 BLAST
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T C 10: 21,497,571 (GRCm39) Y71H possibly damaging Het
Acsl6 C A 11: 54,242,872 (GRCm39) P628T probably damaging Het
Ak7 A G 12: 105,734,807 (GRCm39) D591G probably benign Het
Anxa5 T C 3: 36,516,130 (GRCm39) D66G probably damaging Het
Cacna1b G A 2: 24,496,721 (GRCm39) T2283I probably damaging Het
Cand1 A T 10: 119,045,919 (GRCm39) D995E possibly damaging Het
Cblc G T 7: 19,530,427 (GRCm39) A94E probably damaging Het
Cd48 G A 1: 171,509,687 (GRCm39) C9Y probably benign Het
Chd9 A G 8: 91,721,224 (GRCm39) K1004R probably benign Het
Cilk1 A G 9: 78,057,919 (GRCm39) Y156C probably damaging Het
Cldn1 T C 16: 26,190,202 (GRCm39) T59A probably damaging Het
Col11a1 G A 3: 113,925,218 (GRCm39) G17D probably damaging Het
Cpeb1 A G 7: 81,085,995 (GRCm39) V49A probably damaging Het
Cyp4b1 G T 4: 115,498,855 (GRCm39) P109Q probably damaging Het
Dhrs7b T A 11: 60,735,082 (GRCm39) F23I possibly damaging Het
Dnah9 C A 11: 65,976,093 (GRCm39) A1319S probably benign Het
Egf A T 3: 129,479,864 (GRCm39) V553D possibly damaging Het
Fbn1 T C 2: 125,183,199 (GRCm39) D1760G probably damaging Het
Fbxo31 A G 8: 122,286,745 (GRCm39) F178L probably damaging Het
Fstl4 C A 11: 52,891,117 (GRCm39) S85* probably null Het
Gfm1 A G 3: 67,345,977 (GRCm39) Y225C probably damaging Het
Gm10797 A T 10: 67,408,453 (GRCm39) noncoding transcript Het
H3c8 G A 13: 23,719,721 (GRCm39) V36M probably damaging Het
Heatr4 T A 12: 84,020,495 (GRCm39) I499L probably benign Het
Igfn1 A T 1: 135,896,705 (GRCm39) M1287K probably benign Het
Inpp5b C A 4: 124,677,696 (GRCm39) D385E probably damaging Het
Lrrc9 A G 12: 72,542,435 (GRCm39) probably null Het
Ltb4r1 A G 14: 56,004,699 (GRCm39) M1V probably null Het
Macf1 T C 4: 123,365,327 (GRCm39) I3145V probably benign Het
Man2a2 T C 7: 80,017,450 (GRCm39) N277S probably damaging Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mgat4e A G 1: 134,469,016 (GRCm39) Y343H probably benign Het
Noxred1 T C 12: 87,268,029 (GRCm39) *367W probably null Het
Nup58 A T 14: 60,480,076 (GRCm39) L190* probably null Het
Olfml2a G T 2: 38,841,275 (GRCm39) K270N probably damaging Het
Or5c1 A G 2: 37,222,774 (GRCm39) probably null Het
Or7g32 A G 9: 19,389,495 (GRCm39) L14P probably damaging Het
Phgdh G T 3: 98,223,725 (GRCm39) Q359K probably benign Het
Plpp5 G T 8: 26,212,604 (GRCm39) C200F possibly damaging Het
Pole A C 5: 110,441,235 (GRCm39) I230L probably benign Het
Prtg A T 9: 72,752,193 (GRCm39) D193V probably damaging Het
Ptgs2 G A 1: 149,979,619 (GRCm39) probably null Het
Ptprz1 A T 6: 23,001,573 (GRCm39) Q1221L probably benign Het
Rufy2 T C 10: 62,831,151 (GRCm39) I204T probably benign Het
Rybp A G 6: 100,209,919 (GRCm39) S115P possibly damaging Het
Samd13 A G 3: 146,368,481 (GRCm39) V37A probably benign Het
Secisbp2l T G 2: 125,617,606 (GRCm39) K24Q probably damaging Het
Sorbs2 A G 8: 46,222,891 (GRCm39) Y198C probably damaging Het
Ttc24 G T 3: 87,977,366 (GRCm39) R127S probably benign Het
Ttn C T 2: 76,588,888 (GRCm39) V21394M probably damaging Het
Tubal3 G T 13: 3,982,841 (GRCm39) C207F probably damaging Het
Vmn2r16 A T 5: 109,511,443 (GRCm39) D550V probably damaging Het
Vmn2r2 T A 3: 64,041,921 (GRCm39) I265F possibly damaging Het
Zfp507 T C 7: 35,494,858 (GRCm39) K62E 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
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
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'- GAGTTTCCAGACAGCCTTCTGTCC -3'
(R):5'- TGAGCTTGCTCACCATCATGCAC -3'

Sequencing Primer
(F):5'- AAACAGCACCTGTGTGTTGC -3'
(R):5'- GCTCACCATCATGCACTGTTC -3'
Posted On 2014-04-24