Mutagenetix > Incidental Mutation

Incidental Mutation 'R0801:Svil'

76301

Institutional Source

Beutler Lab

Gene Symbol

Svil

Ensembl Gene

ENSMUSG00000024236

Gene Name

supervillin

Synonyms

B430302E16Rik

MMRRC Submission

038981-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R0801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4920540-5119299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5099443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1256 (R1256G)

Ref Sequence

ENSEMBL: ENSMUSP00000119287 (fasta)

Gene Model

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

AlphaFold

Q8K4L3

Predicted Effect

probably benign
Transcript: ENSMUST00000025079
AA Change: R1660G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025079
Gene: ENSMUSG00000024236
AA Change: R1660G

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

unknown
Transcript: ENSMUST00000125512
AA Change: R646G

SMART Domains

Protein: ENSMUSP00000121972
Gene: ENSMUSG00000024236
AA Change: R646G

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 benign
Transcript: ENSMUST00000126977
AA Change: R1660G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115078
Gene: ENSMUSG00000024236
AA Change: R1660G

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: R1546G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115223
Gene: ENSMUSG00000024236
AA Change: R1546G

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

probably benign
Transcript: ENSMUST00000131609
AA Change: R1660G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122242
Gene: ENSMUSG00000024236
AA Change: R1660G

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: ENSMUST00000139761

Predicted Effect

probably benign
Transcript: ENSMUST00000140448
AA Change: R1660G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236
AA Change: R1660G

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: ENSMUST00000210707
AA Change: R1747G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000143254
AA Change: R1256G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000119287
Gene: ENSMUSG00000024236
AA Change: R1256G

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: ENSMUST00000146723

SMART Domains

Protein: ENSMUSP00000115591
Gene: ENSMUSG00000024236

Domain	Start	End	E-Value	Type
Blast:GEL	2	37	1e-17	BLAST
SCOP:d1d0na6	53	168	3e-19	SMART
Blast:GEL	63	169	1e-72	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.6%
20x: 94.7%

Validation Efficiency

98% (48/49)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	A	G	10: 43,050,987 (GRCm39)	K94E	possibly damaging	Het
Aldh16a1	A	T	7: 44,796,900 (GRCm39)	C228S	probably benign	Het
Arnt	G	T	3: 95,401,157 (GRCm39)	R702L	possibly damaging	Het
Ccdc174	A	G	6: 91,872,313 (GRCm39)	E314G	possibly damaging	Het
Ccdc81	T	C	7: 89,536,866 (GRCm39)		probably null	Het
Ccdc92	T	C	5: 124,913,335 (GRCm39)	T65A	probably benign	Het
Cenpm	A	T	15: 82,118,667 (GRCm39)	I149N	probably benign	Het
Cfap44	C	T	16: 44,242,849 (GRCm39)	S751L	probably benign	Het
Cntrl	A	G	2: 35,065,107 (GRCm39)		probably benign	Het
Col1a2	A	G	6: 4,531,316 (GRCm39)	T762A	unknown	Het
Crebbp	T	C	16: 3,906,140 (GRCm39)	K1621E	probably damaging	Het
Cux1	T	A	5: 136,355,783 (GRCm39)	I374L	probably damaging	Het
Dgkq	A	T	5: 108,808,586 (GRCm39)		probably null	Het
Dis3l	T	C	9: 64,226,436 (GRCm39)	I365V	probably benign	Het
Dock2	T	C	11: 34,599,620 (GRCm39)	R320G	probably damaging	Het
Dst	A	G	1: 34,209,470 (GRCm39)	N853S	probably damaging	Het
Egf	T	C	3: 129,496,234 (GRCm39)		probably benign	Het
Eif2ak2	T	A	17: 79,173,778 (GRCm39)	R267*	probably null	Het
Ern2	A	G	7: 121,780,085 (GRCm39)		probably benign	Het
Ero1b	A	G	13: 12,596,568 (GRCm39)	S123G	probably benign	Het
Fam13a	G	T	6: 58,960,997 (GRCm39)	N118K	probably benign	Het
Gcn1	T	A	5: 115,729,065 (GRCm39)	M792K	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Irf3	C	T	7: 44,650,058 (GRCm39)		probably benign	Het
Map2k5	T	A	9: 63,265,261 (GRCm39)		probably benign	Het
Mcf2l	T	A	8: 13,064,020 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,533,507 (GRCm39)	I878K	probably damaging	Het
Mdn1	T	C	4: 32,668,895 (GRCm39)	S318P	probably benign	Het
Or13a19	G	A	7: 139,902,831 (GRCm39)	C73Y	probably damaging	Het
Or5aq1b	G	A	2: 86,902,407 (GRCm39)	Q24*	probably null	Het
Pklr	G	A	3: 89,052,829 (GRCm39)	W527*	probably null	Het
Pnpla5	T	C	15: 83,998,121 (GRCm39)	M374V	probably benign	Het
Ptprn	G	T	1: 75,228,909 (GRCm39)	H835Q	probably damaging	Het
R3hdm4	A	G	10: 79,749,191 (GRCm39)		probably benign	Het
Rgs8	T	A	1: 153,546,557 (GRCm39)	C19S	probably damaging	Het
Smarca4	C	A	9: 21,553,850 (GRCm39)	Q575K	possibly damaging	Het
Srgap1	A	T	10: 121,643,780 (GRCm39)	F612L	probably damaging	Het
Tox4	T	C	14: 52,517,335 (GRCm39)	S22P	probably benign	Het
Ttc39d	A	G	17: 80,523,644 (GRCm39)	Y101C	probably damaging	Het
Usb1	T	C	8: 96,060,168 (GRCm39)		probably null	Het
Vps13a	T	C	19: 16,664,020 (GRCm39)		probably benign	Het
Vps26a	G	A	10: 62,294,857 (GRCm39)		probably benign	Het
Zfp638	T	A	6: 83,949,220 (GRCm39)		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
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
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'- TGTAGTCAGATACCCCGAGATGCC -3'
(R):5'- GGGGAGCCTGCTGTAGTCAAATTC -3'

Sequencing Primer
(F):5'- CATTAGCAGCTATGATGGGGC -3'
(R):5'- CTGTAGTCAAATTCCAGAATGTGCC -3'

Posted On

2013-10-16