Mutagenetix > Incidental Mutations

Incidental Mutation 'R1544:Svil'

172076

Institutional Source

Beutler Lab

Gene Symbol

Svil

Ensembl Gene

ENSMUSG00000024236

Gene Name

supervillin

Synonyms

B430302E16Rik

MMRRC Submission

039583-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R1544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4920540-5119299 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5046817 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 21 (I21N)

Ref Sequence

ENSEMBL: ENSMUSP00000122242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025079] [ENSMUST00000126977] [ENSMUST00000127297] [ENSMUST00000131609] [ENSMUST00000140448] [ENSMUST00000143254] [ENSMUST00000153016] [ENSMUST00000210707]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025079
AA Change: I21N

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025079
Gene: ENSMUSG00000024236
AA Change: I21N

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

possibly damaging
Transcript: ENSMUST00000126977
AA Change: I21N

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115078
Gene: ENSMUSG00000024236
AA Change: I21N

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

possibly damaging
Transcript: ENSMUST00000127297
AA Change: I21N

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115223
Gene: ENSMUSG00000024236
AA Change: I21N

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

possibly damaging
Transcript: ENSMUST00000131609
AA Change: I21N

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122242
Gene: ENSMUSG00000024236
AA Change: I21N

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

possibly damaging
Transcript: ENSMUST00000140448
AA Change: I21N

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236
AA Change: I21N

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: ENSMUST00000143254
AA Change: I21N

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119287
Gene: ENSMUSG00000024236
AA Change: I21N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153016
AA Change: I21N

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210707
AA Change: I108N

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.1077

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.9%

Validation Efficiency

99% (114/115)

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578C19Rik	A	C	X: 18,420,462	L285V	possibly damaging	Het
4931406B18Rik	A	G	7: 43,498,119	I182T	possibly damaging	Het
4933406P04Rik	A	G	10: 20,311,359		probably benign	Het
4933425L06Rik	A	T	13: 105,109,621	H230L	probably benign	Het
A730018C14Rik	A	G	12: 112,415,490		noncoding transcript	Het
Aacs	A	T	5: 125,516,330	I666F	possibly damaging	Het
Abcb9	C	T	5: 124,083,631	V227I	probably benign	Het
Abcd3	T	C	3: 121,784,473	Q168R	probably benign	Het
Adamts4	A	G	1: 171,252,742	Q288R	probably benign	Het
Atad2	G	A	15: 58,103,364	A611V	probably damaging	Het
Aup1	T	C	6: 83,055,206	V118A	possibly damaging	Het
Bend7	T	A	2: 4,763,311		probably benign	Het
Brd4	A	G	17: 32,198,672		probably benign	Het
C4b	C	A	17: 34,738,967	R580L	probably benign	Het
Cct8	G	T	16: 87,491,454		probably benign	Het
Cilp	T	C	9: 65,275,845	Y344H	probably benign	Het
Clic6	A	T	16: 92,492,073		probably benign	Het
Colgalt2	T	C	1: 152,484,952	S247P	probably damaging	Het
Csf2rb	G	T	15: 78,340,755	A212S	probably benign	Het
Csmd3	A	C	15: 47,611,898		probably null	Het
Cyp26c1	A	G	19: 37,690,945	D366G	probably benign	Het
Dhx33	A	G	11: 70,999,528	S222P	probably damaging	Het
Dhx40	T	A	11: 86,806,553	I63F	possibly damaging	Het
Dlgap2	T	A	8: 14,829,861		probably null	Het
Dnah7b	T	A	1: 46,066,797	D20E	unknown	Het
Dnase2b	C	A	3: 146,584,557	A220S	probably benign	Het
Dock10	T	C	1: 80,592,635	E362G	probably benign	Het
Ect2l	C	T	10: 18,168,434	V226I	probably benign	Het
Epha10	C	A	4: 124,885,596	N78K	probably damaging	Het
Epha3	A	G	16: 63,773,053	V224A	probably damaging	Het
Fam126a	A	T	5: 23,965,141	D403E	probably benign	Het
Fam208b	A	T	13: 3,590,413	H241Q	possibly damaging	Het
Fcgr4	C	A	1: 171,019,954	D40E	probably damaging	Het
Fer1l4	T	C	2: 156,045,633	M548V	probably benign	Het
Flii	C	T	11: 60,719,692		probably null	Het
Flnc	A	T	6: 29,444,080	Y631F	probably benign	Het
Gm13101	T	C	4: 143,966,062	D123G	probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm4788	A	T	1: 139,736,870	C484S	probably damaging	Het
Gm6871	A	C	7: 41,546,090		probably null	Het
Gtf2ird1	A	T	5: 134,358,918	S1028T	possibly damaging	Het
Hydin	A	G	8: 110,574,854	H3739R	probably benign	Het
Iqcg	A	T	16: 33,045,525	N149K	probably benign	Het
Iqgap3	A	G	3: 88,098,893	D537G	probably benign	Het
Itih2	T	G	2: 10,105,214	D576A	probably benign	Het
Kcmf1	T	C	6: 72,848,229	T243A	probably benign	Het
Kif1a	A	G	1: 93,074,948		probably benign	Het
Klf10	C	T	15: 38,296,786	G337S	probably damaging	Het
Krt31	T	C	11: 100,047,873	N298S	possibly damaging	Het
Lmnb1	A	G	18: 56,749,751	E556G	probably benign	Het
Mael	A	T	1: 166,202,290	S354T	probably benign	Het
Mast3	T	C	8: 70,786,172	D496G	probably damaging	Het
Med12l	A	G	3: 59,265,240	T1806A	possibly damaging	Het
Mms19	A	G	19: 41,955,821		probably null	Het
Moap1	A	T	12: 102,743,245	M15K	possibly damaging	Het
Mpv17l	G	T	16: 13,946,819	W70L	probably damaging	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myo7b	T	C	18: 31,994,909	I577V	probably benign	Het
Myo9b	T	A	8: 71,290,976	L227Q	probably damaging	Het
Myom2	T	C	8: 15,104,059		probably benign	Het
Naip6	C	A	13: 100,316,475	R26L	probably benign	Het
Nbea	T	C	3: 56,058,827	T405A	probably damaging	Het
Nrp2	T	A	1: 62,762,904	I502N	probably damaging	Het
Nufip2	G	A	11: 77,691,907	E216K	possibly damaging	Het
Oaf	A	G	9: 43,222,633	Y264H	probably damaging	Het
Olfr1023	T	C	2: 85,887,271	L157P	probably damaging	Het
Olfr643	A	G	7: 104,059,224	V126A	probably damaging	Het
Olfr815	A	T	10: 129,902,424	C95*	probably null	Het
Pax1	T	C	2: 147,368,401	V352A	probably damaging	Het
Pkd1l2	TGGG	TGG	8: 117,038,235		probably null	Het
Plxna3	G	A	X: 74,340,166		probably null	Het
Pnpla3	T	C	15: 84,181,046	V347A	probably benign	Het
Ppl	T	A	16: 5,102,597	K350*	probably null	Het
Prb1	C	A	6: 132,209,460		probably null	Het
Prb1	T	A	6: 132,209,461		probably null	Het
Ptpn11	G	A	5: 121,137,511	H540Y	probably benign	Het
Ptprz1	C	A	6: 23,000,748	H946N	possibly damaging	Het
Rad51b	A	G	12: 79,302,543	E51G	possibly damaging	Het
Rin2	T	C	2: 145,858,446	V181A	probably damaging	Het
Rnf157	T	A	11: 116,354,362		probably null	Het
Rnf207	A	G	4: 152,313,871		probably benign	Het
Ror1	A	T	4: 100,441,986	K852M	probably damaging	Het
Sbp	T	A	17: 23,945,069	I102K	probably benign	Het
Scaf8	T	C	17: 3,145,154	I33T	probably damaging	Het
Scn5a	C	T	9: 119,486,633	V1670I	probably damaging	Het
Serhl	C	T	15: 83,105,676	T42M	probably damaging	Het
Sin3a	A	G	9: 57,103,997		probably benign	Het
Slc12a2	A	G	18: 57,879,302	S166G	probably benign	Het
Slc15a4	G	A	5: 127,603,768	H396Y	probably benign	Het
Slc2a7	A	T	4: 150,154,686	N123Y	probably damaging	Het
Smpd3	G	A	8: 106,265,567	T118M	possibly damaging	Het
Spns2	A	T	11: 72,456,367	I427N	probably benign	Het
Ssmem1	T	A	6: 30,519,651	S112T	probably damaging	Het
Stard10	A	T	7: 101,344,026	D190V	probably damaging	Het
Stil	A	T	4: 115,023,852	K531M	probably damaging	Het
Strc	T	C	2: 121,372,738		probably null	Het
Syt11	T	C	3: 88,748,803	M14V	probably benign	Het
Tg	A	T	15: 66,705,232	Q1468L	probably benign	Het
Tjp1	A	G	7: 65,302,921	V1555A	probably benign	Het
Tmprss11d	A	C	5: 86,338,799	S77R	probably damaging	Het
Tsnaxip1	A	G	8: 105,827,751		probably benign	Het
Tyr	C	A	7: 87,492,706	L138F	probably damaging	Het
Ubash3b	A	G	9: 41,016,605	V469A	probably damaging	Het
Ugt8a	T	C	3: 125,915,449	Y4C	probably benign	Het
Vmn1r201	A	T	13: 22,474,798	T61S	probably benign	Het
Vmn1r204	A	G	13: 22,556,295	H32R	probably benign	Het
Vmn1r228	T	A	17: 20,777,023	I78L	probably benign	Het
Wdr90	T	C	17: 25,849,310	D1348G	possibly damaging	Het
Zfp563	T	A	17: 33,105,213	C261S	probably benign	Het
Zfp809	T	A	9: 22,235,099	L28Q	probably damaging	Het
Znrf3	T	A	11: 5,289,066	Q99L	probably damaging	Het

Other mutations in Svil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Svil	APN	18	5099045	missense	probably benign	0.27
IGL00840:Svil	APN	18	5063555	missense	probably benign
IGL01329:Svil	APN	18	5064501	missense	probably benign
IGL01446:Svil	APN	18	5062385	missense	probably damaging	1.00
IGL02068:Svil	APN	18	5092899	missense	probably damaging	1.00
IGL02223:Svil	APN	18	5105879	splice site	probably benign
IGL02428:Svil	APN	18	5118203	missense	probably damaging	1.00
IGL02429:Svil	APN	18	5118369	missense	probably benign	0.00
IGL02479:Svil	APN	18	5099476	missense	probably damaging	1.00
IGL02560:Svil	APN	18	5049379	missense	probably benign	0.00
IGL02652:Svil	APN	18	5114531	missense	probably damaging	1.00
IGL03291:Svil	APN	18	5056150	nonsense	probably null
BB002:Svil	UTSW	18	5118357	missense	probably benign	0.00
BB012:Svil	UTSW	18	5118357	missense	probably benign	0.00
IGL03055:Svil	UTSW	18	5108615	missense	probably damaging	1.00
R0029:Svil	UTSW	18	5063286	missense	probably benign	0.14
R0029:Svil	UTSW	18	5063286	missense	probably benign	0.14
R0266:Svil	UTSW	18	5099063	splice site	probably benign
R0281:Svil	UTSW	18	5094582	missense	probably damaging	1.00
R0442:Svil	UTSW	18	5046870	missense	probably damaging	1.00
R0549:Svil	UTSW	18	5064566	missense	possibly damaging	0.79
R0617:Svil	UTSW	18	5117002	missense	probably damaging	1.00
R0801:Svil	UTSW	18	5099443	missense	probably benign	0.00
R0894:Svil	UTSW	18	5097494	missense	probably damaging	1.00
R1053:Svil	UTSW	18	5056690	missense	probably benign	0.16
R1065:Svil	UTSW	18	5063777	splice site	probably benign
R1080:Svil	UTSW	18	5058147	missense	possibly damaging	0.79
R1199:Svil	UTSW	18	5059217	splice site	probably benign
R1472:Svil	UTSW	18	5048950	missense	probably benign	0.09
R1480:Svil	UTSW	18	5057345	missense	probably damaging	1.00
R1626:Svil	UTSW	18	5117099	critical splice donor site	probably null
R1691:Svil	UTSW	18	5056336	missense	probably benign	0.06
R1812:Svil	UTSW	18	5097545	missense	probably damaging	1.00
R1826:Svil	UTSW	18	5063383	missense	probably benign	0.01
R1842:Svil	UTSW	18	5062373	missense	probably damaging	1.00
R1884:Svil	UTSW	18	5094640	missense	possibly damaging	0.94
R1945:Svil	UTSW	18	5117059	missense	probably damaging	1.00
R2184:Svil	UTSW	18	5099534	missense	probably damaging	1.00
R2184:Svil	UTSW	18	5099615	missense	probably damaging	1.00
R2232:Svil	UTSW	18	5046640	start codon destroyed	probably null	0.98
R2398:Svil	UTSW	18	5060613	splice site	probably null
R3076:Svil	UTSW	18	5116055	missense	probably damaging	1.00
R3777:Svil	UTSW	18	5090855	missense	probably damaging	0.97
R3779:Svil	UTSW	18	5090855	missense	probably damaging	0.97
R3797:Svil	UTSW	18	5060534	missense	probably benign	0.29
R4077:Svil	UTSW	18	5063522	missense	probably benign	0.03
R4350:Svil	UTSW	18	5118154	missense	probably damaging	1.00
R4379:Svil	UTSW	18	5046909	missense	probably damaging	1.00
R4488:Svil	UTSW	18	5049067	missense	probably damaging	1.00
R4777:Svil	UTSW	18	5088813	missense	probably damaging	0.99
R4825:Svil	UTSW	18	5114564	missense	probably damaging	1.00
R4921:Svil	UTSW	18	5108631	missense	probably damaging	1.00
R4969:Svil	UTSW	18	5095516	missense	probably damaging	1.00
R4975:Svil	UTSW	18	5054025	missense	possibly damaging	0.61
R4990:Svil	UTSW	18	5056810	missense	probably benign	0.05
R4991:Svil	UTSW	18	5056810	missense	probably benign	0.05
R5061:Svil	UTSW	18	5048954	missense	probably benign	0.02
R5271:Svil	UTSW	18	5062329	missense	probably benign	0.45
R5362:Svil	UTSW	18	5057345	missense	probably damaging	1.00
R5433:Svil	UTSW	18	5059294	missense	probably damaging	0.99
R5677:Svil	UTSW	18	5046823	nonsense	probably null
R5850:Svil	UTSW	18	5098900	splice site	probably null
R5868:Svil	UTSW	18	5056854	splice site	probably null
R5871:Svil	UTSW	18	5103669	splice site	probably null
R5876:Svil	UTSW	18	5082828	missense	probably damaging	1.00
R6061:Svil	UTSW	18	5106724	missense	probably damaging	1.00
R6062:Svil	UTSW	18	5106724	missense	probably damaging	1.00
R6063:Svil	UTSW	18	5106724	missense	probably damaging	1.00
R6065:Svil	UTSW	18	5106724	missense	probably damaging	1.00
R6066:Svil	UTSW	18	5106724	missense	probably damaging	1.00
R6114:Svil	UTSW	18	5108639	missense	probably damaging	1.00
R6115:Svil	UTSW	18	5108675	missense	probably damaging	0.99
R6117:Svil	UTSW	18	5116016	missense	probably damaging	1.00
R6302:Svil	UTSW	18	5057432	missense	probably benign	0.13
R6418:Svil	UTSW	18	5040171	missense	probably benign	0.26
R6441:Svil	UTSW	18	5049323	missense	probably benign
R6446:Svil	UTSW	18	5057323	missense	probably benign	0.09
R6455:Svil	UTSW	18	5056629	missense	possibly damaging	0.89
R6545:Svil	UTSW	18	5108621	missense	probably benign	0.00
R6692:Svil	UTSW	18	5082853	missense	probably damaging	1.00
R6730:Svil	UTSW	18	5049311	missense	probably benign	0.17
R6763:Svil	UTSW	18	5056437	missense	probably damaging	0.99
R6870:Svil	UTSW	18	5063231	missense	possibly damaging	0.86
R6916:Svil	UTSW	18	5114682	utr 3 prime	probably benign
R7134:Svil	UTSW	18	5116080	missense	probably damaging	1.00
R7190:Svil	UTSW	18	5092937	missense	probably benign	0.01
R7213:Svil	UTSW	18	5094574	missense	probably damaging	0.99
R7249:Svil	UTSW	18	5056270	missense	probably benign	0.01
R7249:Svil	UTSW	18	5062247	missense	probably damaging	0.99
R7421:Svil	UTSW	18	5056109	missense	probably benign	0.18
R7571:Svil	UTSW	18	5114636	missense	probably damaging	1.00
R7574:Svil	UTSW	18	5095188	missense	probably benign	0.16
R7645:Svil	UTSW	18	5099663	missense	probably damaging	1.00
R7925:Svil	UTSW	18	5118357	missense	probably benign	0.00
R8113:Svil	UTSW	18	5062385	missense	probably damaging	1.00
R8263:Svil	UTSW	18	5108679	missense	probably damaging	1.00
X0065:Svil	UTSW	18	5062317	missense	probably damaging	1.00
Z1177:Svil	UTSW	18	5062344	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCTGAGAACCACCATTTGAGTCC -3'
(R):5'- TCTCATTTGTTCTGGCATGAGACGG -3'

Sequencing Primer
(F):5'- CTCTGTCGTAGTTGCAGAATTAAG -3'
(R):5'- GTCTTCTTCTAGCAGCCGAT -3'

Posted On

2014-04-13