Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02068:Svil'

185711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Svil

Ensembl Gene

ENSMUSG00000024236

Gene Name

supervillin

Synonyms

B430302E16Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02068

Quality Score

Status

Chromosome

Chromosomal Location

4920540-5119299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5092899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1459 (E1459G)

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 damaging
Transcript: ENSMUST00000025079
AA Change: E1372G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025079
Gene: ENSMUSG00000024236
AA Change: E1372G

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: E358G

SMART Domains

Protein: ENSMUSP00000121972
Gene: ENSMUSG00000024236
AA Change: E358G

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 damaging
Transcript: ENSMUST00000126977
AA Change: E1372G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115078
Gene: ENSMUSG00000024236
AA Change: E1372G

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 damaging
Transcript: ENSMUST00000127297
AA Change: E1258G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115223
Gene: ENSMUSG00000024236
AA Change: E1258G

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 damaging
Transcript: ENSMUST00000131609
AA Change: E1372G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122242
Gene: ENSMUSG00000024236
AA Change: E1372G

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 damaging
Transcript: ENSMUST00000140448
AA Change: E1372G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236
AA Change: E1372G

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 damaging
Transcript: ENSMUST00000143254
AA Change: E968G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119287
Gene: ENSMUSG00000024236
AA Change: E968G

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 damaging
Transcript: ENSMUST00000210707
AA Change: E1459G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,814,558 (GRCm39)	I140F	probably benign	Het
Cfap58	T	C	19: 47,974,951 (GRCm39)	L704P	probably damaging	Het
Cnnm2	T	C	19: 46,865,827 (GRCm39)	V805A	possibly damaging	Het
Dnah9	T	C	11: 65,951,871 (GRCm39)	E1876G	probably damaging	Het
Dock1	A	T	7: 134,373,277 (GRCm39)	E548V	probably benign	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Esm1	T	G	13: 113,346,630 (GRCm39)	F85C	probably damaging	Het
Fcer1a	C	T	1: 173,053,071 (GRCm39)	G42R	probably damaging	Het
Fcer1g	A	T	1: 171,058,760 (GRCm39)	Y43N	probably damaging	Het
Grik1	G	T	16: 87,737,539 (GRCm39)	T585K	possibly damaging	Het
Hnf4g	T	C	3: 3,709,636 (GRCm39)	I184T	probably benign	Het
Hsd11b1	G	A	1: 192,904,354 (GRCm39)	R282*	probably null	Het
Lig1	T	A	7: 13,026,377 (GRCm39)		probably benign	Het
Or13l2	T	C	3: 97,318,222 (GRCm39)	K92E	possibly damaging	Het
Phip	A	G	9: 82,827,861 (GRCm39)	S184P	probably damaging	Het
Pkhd1	C	T	1: 20,592,971 (GRCm39)	G1714D	probably damaging	Het
Plppr4	A	G	3: 117,125,433 (GRCm39)		probably benign	Het
Prdm10	G	A	9: 31,248,646 (GRCm39)	R356Q	probably damaging	Het
Rasgrp1	C	T	2: 117,131,059 (GRCm39)		probably benign	Het
Rpap1	C	T	2: 119,613,135 (GRCm39)	E138K	probably benign	Het
Sidt2	A	C	9: 45,856,962 (GRCm39)		probably null	Het
Slc28a3	A	G	13: 58,706,411 (GRCm39)	L610P	probably damaging	Het
Slc39a10	T	C	1: 46,858,599 (GRCm39)		probably benign	Het
Snx18	G	A	13: 113,753,601 (GRCm39)	A444V	probably damaging	Het
Tbc1d9	T	C	8: 83,966,497 (GRCm39)	L366P	probably damaging	Het
Tbk1	A	T	10: 121,406,694 (GRCm39)	H181Q	probably damaging	Het
Wrn	C	A	8: 33,800,777 (GRCm39)	G612V	probably benign	Het
Xdh	A	G	17: 74,220,945 (GRCm39)	Y595H	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
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
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

Posted On

2014-05-07