Mutagenetix > Incidental Mutation

Incidental Mutation 'R6730:Svil'

530039

Institutional Source

Beutler Lab

Gene Symbol

Svil

Ensembl Gene

ENSMUSG00000024236

Gene Name

supervillin

Synonyms

B430302E16Rik

MMRRC Submission

044848-MU

Accession Numbers

Essential gene?

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

Stock #

R6730 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4920540-5119299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5049311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 196 (N196S)

Ref Sequence

ENSEMBL: ENSMUSP00000122242 (fasta)

Gene Model

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

AlphaFold

Q8K4L3

Predicted Effect

probably benign
Transcript: ENSMUST00000025079
AA Change: N196S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025079
Gene: ENSMUSG00000024236
AA Change: N196S

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: ENSMUST00000126977
AA Change: N196S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000115078
Gene: ENSMUSG00000024236
AA Change: N196S

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
AA Change: N196S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000115223
Gene: ENSMUSG00000024236
AA Change: N196S

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
AA Change: N196S

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122242
Gene: ENSMUSG00000024236
AA Change: N196S

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 benign
Transcript: ENSMUST00000140448
AA Change: N196S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236
AA Change: N196S

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: N196S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119287
Gene: ENSMUSG00000024236
AA Change: N196S

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

probably benign
Transcript: ENSMUST00000210707
AA Change: N283S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000153016

Meta Mutation Damage Score

0.0585

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	A	3: 116,777,124 (GRCm39)	*59R	probably null	Het
Adam10	G	T	9: 70,647,458 (GRCm39)		probably null	Het
Adam2	A	T	14: 66,275,025 (GRCm39)	N569K	possibly damaging	Het
Adam20	T	C	8: 41,249,696 (GRCm39)	V602A	probably benign	Het
Adgrb3	T	C	1: 25,133,375 (GRCm39)	Y1237C	probably damaging	Het
Ago3	T	C	4: 126,265,338 (GRCm39)	T318A	probably null	Het
Aknad1	G	A	3: 108,659,655 (GRCm39)	G223D	possibly damaging	Het
Camkv	T	C	9: 107,825,516 (GRCm39)	S478P	possibly damaging	Het
Ccl27a	T	A	4: 41,773,342 (GRCm39)	H39L	probably damaging	Het
Ccser2	C	A	14: 36,601,043 (GRCm39)	S447I	probably damaging	Het
Clvs2	A	G	10: 33,404,517 (GRCm39)	L233P	probably damaging	Het
Csn1s2b	T	A	5: 87,970,127 (GRCm39)	H124Q	probably benign	Het
Dnhd1	T	C	7: 105,353,082 (GRCm39)	L2745P	probably benign	Het
Dync1i2	T	A	2: 71,077,484 (GRCm39)	F219L	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ephb6	C	T	6: 41,594,308 (GRCm39)	Q613*	probably null	Het
Erc2	A	C	14: 27,620,524 (GRCm39)	D50A	possibly damaging	Het
Fam149a	T	A	8: 45,834,211 (GRCm39)	D196V	probably damaging	Het
Ficd	T	C	5: 113,876,773 (GRCm39)	V316A	probably damaging	Het
Gstm6	T	A	3: 107,850,041 (GRCm39)	K18*	probably null	Het
Ighv1-62-1	A	T	12: 115,350,512 (GRCm39)	W52R	probably benign	Het
Klhl18	C	T	9: 110,257,979 (GRCm39)	C417Y	probably damaging	Het
Ly9	T	A	1: 171,432,737 (GRCm39)	Y92F	probably benign	Het
Mettl18	C	T	1: 163,824,750 (GRCm39)	T357I	probably damaging	Het
Myoz2	C	A	3: 122,810,276 (GRCm39)	G100C	probably damaging	Het
Or10a49	A	T	7: 108,467,780 (GRCm39)	F194I	probably benign	Het
Or4k47	A	G	2: 111,452,080 (GRCm39)	V113A	probably damaging	Het
Or7h8	T	C	9: 20,123,798 (GRCm39)	I51T	probably benign	Het
Pars2	C	T	4: 106,510,628 (GRCm39)	L128F	probably damaging	Het
Pcsk6	G	T	7: 65,629,996 (GRCm39)	R374L	probably damaging	Het
Ptpn3	T	C	4: 57,270,088 (GRCm39)	T25A	probably benign	Het
Rab11fip1	G	A	8: 27,633,257 (GRCm39)	P1150S	probably damaging	Het
Rabep1	A	G	11: 70,831,212 (GRCm39)	Q831R	possibly damaging	Het
Rad17	T	C	13: 100,786,253 (GRCm39)		probably benign	Het
Rxfp1	T	A	3: 79,557,898 (GRCm39)	R527*	probably null	Het
Scnn1b	C	T	7: 121,502,100 (GRCm39)	P253S	probably damaging	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Slc2a7	T	C	4: 150,242,605 (GRCm39)	F231S	probably damaging	Het
Tent5c	T	A	3: 100,380,273 (GRCm39)	N161I	probably benign	Het
Urb1	T	C	16: 90,575,971 (GRCm39)	S862G	possibly damaging	Het
Usp30	T	C	5: 114,241,770 (GRCm39)	S87P	probably damaging	Het
Vmn1r177	T	A	7: 23,565,237 (GRCm39)	H213L	probably damaging	Het
Vmn2r106	T	A	17: 20,499,096 (GRCm39)	I272L	possibly damaging	Het
Vmn2r120	T	A	17: 57,832,012 (GRCm39)	D259V	probably benign	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
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
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'- TTGTCTCGATATGCCAAGTCTC -3'
(R):5'- TCAATGCTTACCTGGCTCGG -3'

Sequencing Primer
(F):5'- TCTCGATATGCCAAGTCTCGGAAG -3'
(R):5'- GCTCGGGCCTCTGTGGG -3'

Posted On

2018-08-01