Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00226:Svil'

2070

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: 0.177) question?

Stock #

IGL00226

Quality Score

Status

Chromosome

Chromosomal Location

4920540-5119299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5099045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1250 (Q1250R)

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: Q1654R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025079
Gene: ENSMUSG00000024236
AA Change: Q1654R

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: Q640R

SMART Domains

Protein: ENSMUSP00000121972
Gene: ENSMUSG00000024236
AA Change: Q640R

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: Q1654R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000115078
Gene: ENSMUSG00000024236
AA Change: Q1654R

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: Q1540R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000115223
Gene: ENSMUSG00000024236
AA Change: Q1540R

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: Q1654R

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122242
Gene: ENSMUSG00000024236
AA Change: Q1654R

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: Q1654R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000119803
Gene: ENSMUSG00000024236
AA Change: Q1654R

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: Q1741R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143254
AA Change: Q1250R

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119287
Gene: ENSMUSG00000024236
AA Change: Q1250R

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	C	A	3: 36,533,690 (GRCm39)		probably benign	Het
Ankib1	G	A	5: 3,777,573 (GRCm39)	S439L	probably benign	Het
Cdcp3	T	A	7: 130,839,823 (GRCm39)		probably null	Het
Cpd	G	T	11: 76,688,615 (GRCm39)	H886N	probably benign	Het
Dhrs7	A	G	12: 72,706,124 (GRCm39)	C94R	probably damaging	Het
Dmxl2	T	A	9: 54,323,277 (GRCm39)	H1369L	probably damaging	Het
Dnah5	A	G	15: 28,272,488 (GRCm39)	N1068S	probably benign	Het
Dop1a	T	A	9: 86,433,732 (GRCm39)	D2329E	possibly damaging	Het
Eif1ad	A	G	19: 5,418,212 (GRCm39)		probably benign	Het
Fam149a	T	C	8: 45,792,380 (GRCm39)	R693G	probably damaging	Het
Fbxw18	T	A	9: 109,522,411 (GRCm39)	T153S	probably benign	Het
Glg1	A	T	8: 111,886,481 (GRCm39)	C1104S	probably damaging	Het
Jak3	T	C	8: 72,134,341 (GRCm39)		probably benign	Het
Kctd6	C	T	14: 8,222,856 (GRCm38)	R233C	possibly damaging	Het
Kpna3	A	G	14: 61,611,737 (GRCm39)	V300A	possibly damaging	Het
Msh5	A	T	17: 35,248,857 (GRCm39)	Y725*	probably null	Het
Myh2	T	C	11: 67,076,059 (GRCm39)	S749P	possibly damaging	Het
Or2ag15	T	A	7: 106,340,908 (GRCm39)	T78S	probably benign	Het
Or4c110	A	G	2: 88,831,683 (GRCm39)		probably benign	Het
Or5ac17	A	T	16: 59,036,859 (GRCm39)	M39K	probably damaging	Het
Or8g19	T	A	9: 39,056,053 (GRCm39)	I219N	possibly damaging	Het
Pdcd1	A	G	1: 93,967,860 (GRCm39)		probably benign	Het
Pde5a	T	A	3: 122,588,006 (GRCm39)	F391I	probably damaging	Het
Ptpn12	A	C	5: 21,203,666 (GRCm39)	S371A	probably damaging	Het
Sec16b	A	G	1: 157,365,900 (GRCm39)	Y254C	probably damaging	Het
Slc2a10	G	A	2: 165,356,700 (GRCm39)	C120Y	probably damaging	Het
Spink5	G	A	18: 44,120,938 (GRCm39)		probably benign	Het
Tph1	G	T	7: 46,306,294 (GRCm39)	N222K	probably benign	Het
Vmn2r83	A	T	10: 79,314,805 (GRCm39)	D351V	probably damaging	Het
Zfp54	A	G	17: 21,653,821 (GRCm39)	D105G	possibly damaging	Het
Zfp623	T	C	15: 75,820,052 (GRCm39)	I336T	probably damaging	Het

Other mutations in Svil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-12-09