Mutagenetix > Incidental Mutation

Incidental Mutation 'R2398:Svil'

248621

Institutional Source

Beutler Lab

Gene Symbol

Svil

Ensembl Gene

ENSMUSG00000024236

Gene Name

supervillin

Synonyms

B430302E16Rik

MMRRC Submission

040365-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R2398 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

4920540-5119299 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 5060613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025079] [ENSMUST00000126977] [ENSMUST00000126977] [ENSMUST00000127297] [ENSMUST00000131609] [ENSMUST00000140448] [ENSMUST00000140448] [ENSMUST00000210707] [ENSMUST00000210707] [ENSMUST00000143254]

AlphaFold

Q8K4L3

Predicted Effect

probably null
Transcript: ENSMUST00000025079

SMART Domains

Protein: ENSMUSP00000025079
Gene: ENSMUSG00000024236

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000126977

SMART Domains

Protein: ENSMUSP00000115078
Gene: ENSMUSG00000024236

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000115223
Gene: ENSMUSG00000024236

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000131609

SMART Domains

Protein: ENSMUSP00000122242
Gene: ENSMUSG00000024236

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000140448

SMART Domains

Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236

Domain	Start	End	E-Value	Type
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: ENSMUST00000140448

SMART Domains

Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236

Domain	Start	End	E-Value	Type
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: ENSMUST00000210707

Predicted Effect

probably null
Transcript: ENSMUST00000210707

Predicted Effect

probably benign
Transcript: ENSMUST00000143254

SMART Domains

Protein: ENSMUSP00000119287
Gene: ENSMUSG00000024236

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (39/39)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,244,872 (GRCm39)	D160G	possibly damaging	Het
Akr1c6	T	C	13: 4,499,035 (GRCm39)	S208P	probably benign	Het
Ap3b2	A	G	7: 81,126,943 (GRCm39)	F269S	probably damaging	Het
Ap3d1	G	A	10: 80,555,006 (GRCm39)	Q440*	probably null	Het
Cog2	T	C	8: 125,256,665 (GRCm39)	I137T	probably benign	Het
Cse1l	A	G	2: 166,770,917 (GRCm39)	Y369C	probably damaging	Het
Dnah9	T	C	11: 65,806,029 (GRCm39)	N3357D	probably damaging	Het
Fam83b	T	C	9: 76,409,500 (GRCm39)	T209A	probably damaging	Het
Gbp2	G	A	3: 142,339,123 (GRCm39)	A392T	probably benign	Het
Grsf1	G	A	5: 88,821,695 (GRCm39)	T123I	probably damaging	Het
Gzmc	T	A	14: 56,470,228 (GRCm39)	I90F	possibly damaging	Het
Hook2	T	A	8: 85,717,928 (GRCm39)	N42K	probably damaging	Het
Hsp90aa1	T	C	12: 110,658,755 (GRCm39)	M629V	possibly damaging	Het
Ifna14	T	C	4: 88,489,863 (GRCm39)	D58G	possibly damaging	Het
Krtap4-8	T	C	11: 99,671,103 (GRCm39)		probably benign	Het
Mocs1	T	C	17: 49,759,862 (GRCm39)	I381T	probably damaging	Het
Nbas	A	G	12: 13,482,946 (GRCm39)	T1408A	probably damaging	Het
Or6c219	A	G	10: 129,781,076 (GRCm39)	F285S	probably benign	Het
Or8j3b	T	A	2: 86,205,183 (GRCm39)	D191V	probably damaging	Het
Orc1	C	T	4: 108,459,166 (GRCm39)	T445I	possibly damaging	Het
Pdik1l	T	C	4: 134,005,710 (GRCm39)	K411E	probably benign	Het
Pias3	A	G	3: 96,611,129 (GRCm39)	I443V	probably benign	Het
Psmd2	T	C	16: 20,478,222 (GRCm39)	S536P	possibly damaging	Het
Rnf10	C	T	5: 115,385,332 (GRCm39)	R554H	probably benign	Het
Smarcc2	C	T	10: 128,305,551 (GRCm39)	T325I	possibly damaging	Het
Smchd1	C	A	17: 71,667,136 (GRCm39)	C1752F	probably damaging	Het
Smchd1	G	A	17: 71,733,431 (GRCm39)		probably benign	Het
Tex52	T	C	6: 128,356,540 (GRCm39)	S78P	probably damaging	Het
Tmem63c	T	G	12: 87,103,307 (GRCm39)	V27G	probably damaging	Het
Ttc41	A	G	10: 86,549,250 (GRCm39)	N148S	possibly damaging	Het
Vmn2r67	T	C	7: 84,785,921 (GRCm39)	I695V	probably damaging	Het
Wipf2	T	A	11: 98,789,543 (GRCm39)		probably null	Het
Zc3h18	A	G	8: 123,140,605 (GRCm39)		probably benign	Het
Zfp804a	T	A	2: 82,089,013 (GRCm39)	N947K	possibly damaging	Het
Zfyve26	T	C	12: 79,329,573 (GRCm39)		probably null	Het
Zic2	G	T	14: 122,716,329 (GRCm39)	E422*	probably null	Het
Zmym4	A	T	4: 126,816,929 (GRCm39)	D4E	probably damaging	Het

Other mutations in Svil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TCCAGATTTACAGCTCTGCC -3'
(R):5'- ACGTGAGTTAGTGCAACCTTAG -3'

Sequencing Primer
(F):5'- GATTTACAGCTCTGCCTTCTTTAATG -3'
(R):5'- GTGCAACCTTAGTTAGTGCCAAC -3'

Posted On

2014-11-11