Mutagenetix > Incidental Mutation

Incidental Mutation 'R5646:Vill'

441167

Institutional Source

Beutler Lab

Gene Symbol

Vill

Ensembl Gene

ENSMUSG00000038775

Gene Name

villin-like

Synonyms

Villp

MMRRC Submission

043294-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119052778-119071525 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119071162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 365 (D365V)

Ref Sequence

ENSEMBL: ENSMUSP00000116262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010804] [ENSMUST00000051386] [ENSMUST00000074734] [ENSMUST00000126251] [ENSMUST00000136561] [ENSMUST00000141185] [ENSMUST00000213464] [ENSMUST00000214470]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000010804

SMART Domains

Protein: ENSMUSP00000010804
Gene: ENSMUSG00000010660

Domain	Start	End	E-Value	Type
PH	22	132	9.41e-10	SMART
EFh	144	172	2.87e-2	SMART
EFh	180	208	9.34e1	SMART
Pfam:EF-hand_like	213	295	1.2e-23	PFAM
PLCXc	296	440	5.47e-94	SMART
low complexity region	461	472	N/A	INTRINSIC
PLCYc	492	609	1.22e-68	SMART
C2	630	735	1.78e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051386
AA Change: D832V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: D832V

Domain	Start	End	E-Value	Type
GEL	14	114	4.59e-13	SMART
GEL	135	227	4.18e-16	SMART
GEL	252	348	8.35e-25	SMART
GEL	391	488	7.92e-17	SMART
GEL	508	594	4.38e-19	SMART
GEL	613	706	7.8e-16	SMART
VHP	824	859	2.12e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074734
AA Change: D748V

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: D748V

Domain	Start	End	E-Value	Type
GEL	14	114	4.59e-13	SMART
GEL	135	227	4.18e-16	SMART
GEL	252	348	8.35e-25	SMART
GEL	391	488	7.92e-17	SMART
GEL	508	594	4.38e-19	SMART
VHP	740	775	2.12e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000126251
AA Change: D365V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
AA Change: D365V

Domain	Start	End	E-Value	Type
Blast:GEL	1	56	9e-21	BLAST
GEL	63	149	4.38e-19	SMART
GEL	168	261	7.8e-16	SMART
VHP	357	392	2.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136561

SMART Domains

Protein: ENSMUSP00000123393
Gene: ENSMUSG00000038775

Domain	Start	End	E-Value	Type
GEL	1	96	2.46e-13	SMART
Blast:GEL	116	140	2e-8	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141185
AA Change: D448V

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
AA Change: D448V

Domain	Start	End	E-Value	Type
GEL	7	104	7.92e-17	SMART
GEL	124	210	4.38e-19	SMART
GEL	229	322	7.8e-16	SMART
VHP	440	475	2.12e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153630

Predicted Effect

probably benign
Transcript: ENSMUST00000213464

Predicted Effect

probably benign
Transcript: ENSMUST00000214470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214491

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,283,776	S4467P	probably damaging	Het
Add1	C	A	5: 34,630,680	A691D	probably benign	Het
Agap3	C	A	5: 24,483,397	D394E	probably benign	Het
Arhgef11	T	C	3: 87,684,486	V59A	possibly damaging	Het
Atp2a1	A	G	7: 126,453,105	V402A	probably benign	Het
Bbs9	T	C	9: 22,578,715	F261L	probably benign	Het
Bsn	A	T	9: 108,110,432		probably benign	Het
Camk1	A	G	6: 113,339,340	V81A	probably damaging	Het
Cass4	T	G	2: 172,416,245	C54W	probably damaging	Het
Ccdc39	A	T	3: 33,825,550	F456L	probably damaging	Het
Cdc42bpa	A	G	1: 180,106,094	E766G	probably damaging	Het
Cdcp2	T	C	4: 107,105,142	C171R	probably damaging	Het
Cdh9	G	A	15: 16,823,285	E118K	probably damaging	Het
Col4a2	G	A	8: 11,441,281	G1227R	probably damaging	Het
Cyp2d9	A	G	15: 82,452,464	T5A	probably benign	Het
Dlg5	T	A	14: 24,158,699	D813V	probably damaging	Het
Dmtf1	G	A	5: 9,124,515	S405F	possibly damaging	Het
Drd2	A	G	9: 49,404,912	K324R	probably benign	Het
Ergic1	T	C	17: 26,614,358	S29P	probably damaging	Het
Fmnl1	A	G	11: 103,196,512		probably benign	Het
Foxd2	C	T	4: 114,908,635	A63T	unknown	Het
Gfap	T	C	11: 102,891,456	I409M	probably benign	Het
Gfpt1	A	G	6: 87,042,999	M1V	probably null	Het
H2-T23	C	G	17: 36,031,803	E148Q	possibly damaging	Het
Hip1	G	A	5: 135,428,741	R704W	probably damaging	Het
Kif19a	A	C	11: 114,779,654	D130A	probably damaging	Het
Lin7b	T	C	7: 45,369,193	D14G	probably damaging	Het
Meioc	T	A	11: 102,675,257	N510K	possibly damaging	Het
Mettl5	C	A	2: 69,881,319	G68*	probably null	Het
Mitf	A	T	6: 98,013,694	I184F	probably damaging	Het
Mmp9	T	A	2: 164,949,050	H119Q	probably benign	Het
Mycbp2	T	A	14: 103,169,910	H2768L	probably benign	Het
Myh2	A	T	11: 67,188,812	I1032F	probably benign	Het
Myo3b	T	C	2: 70,314,430	I1110T	probably damaging	Het
Nde1	T	C	16: 14,169,514	F8L	probably damaging	Het
Olfr1317	T	C	2: 112,142,683	V246A	possibly damaging	Het
Olfr202	C	T	16: 59,283,979	V173I	probably benign	Het
Olfr432	C	T	1: 174,051,287	Q305*	probably null	Het
Olfr447	A	G	6: 42,911,523		probably null	Het
Olfr550	A	C	7: 102,579,305	Y270S	possibly damaging	Het
Olfr753-ps1	T	C	17: 37,169,917	I244V	probably benign	Het
Olfr771	T	C	10: 129,160,837	D49G	possibly damaging	Het
Pcdhga8	A	G	18: 37,726,770	H293R	probably benign	Het
Pde7a	A	T	3: 19,233,773	L244Q	probably damaging	Het
Pex14	T	C	4: 148,961,453	D340G	probably benign	Het
Pfkfb4	A	T	9: 109,008,421	I195F	probably damaging	Het
Pik3c2a	C	A	7: 116,405,951	G361W	probably damaging	Het
Prkcg	T	A	7: 3,329,081	M517K	probably damaging	Het
Prob1	A	T	18: 35,654,114	F362L	probably benign	Het
Rims4	C	T	2: 163,864,017	W232*	probably null	Het
Robo2	T	C	16: 73,961,819	D688G	probably damaging	Het
Sec24c	C	A	14: 20,679,573	A73E	probably benign	Het
Slc15a3	A	G	19: 10,843,210	N64D	probably benign	Het
Smg1	A	T	7: 118,212,559	N65K	probably benign	Het
Sptb	G	T	12: 76,587,441	D2165E	probably benign	Het
Sptbn5	A	T	2: 120,048,811		noncoding transcript	Het
Syt12	A	T	19: 4,456,541	M192K	possibly damaging	Het
Tas2r107	A	G	6: 131,659,708	V126A	probably benign	Het
Thbs3	T	C	3: 89,219,098	L242P	probably damaging	Het
Timp2	A	T	11: 118,317,532		probably null	Het
Tmtc1	G	A	6: 148,246,831	A751V	probably damaging	Het
Tnni2	A	T	7: 142,443,913	D85V	probably damaging	Het
Ttc39b	G	A	4: 83,244,070	P319L	probably damaging	Het
Ttc6	A	T	12: 57,576,019	K68M	probably damaging	Het
Usp25	G	A	16: 77,050,472	R156Q	probably benign	Het
Vmn1r65	T	A	7: 6,009,224	T4S	probably benign	Het
Vmn2r76	C	A	7: 86,226,053	C572F	probably damaging	Het
Vps26a	A	C	10: 62,468,298	N181K	probably damaging	Het
Xirp2	T	C	2: 67,510,790	L1125P	probably damaging	Het
Zbtb41	T	G	1: 139,423,763	S205A	probably benign	Het
Zfp438	T	C	18: 5,214,526	D144G	probably benign	Het
Zfp600	T	C	4: 146,195,100	S113P	probably damaging	Het
Zfp84	C	T	7: 29,776,393	T170M	probably benign	Het
Zmiz2	T	A	11: 6,402,837	D654E	probably damaging	Het
Zswim4	A	T	8: 84,231,110		probably null	Het

Other mutations in Vill

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Vill	APN	9	119063312	missense	probably damaging	1.00
IGL01024:Vill	APN	9	119070350	critical splice donor site	probably null
IGL01934:Vill	APN	9	119066809	missense	probably damaging	1.00
IGL02118:Vill	APN	9	119060398	missense	probably benign	0.44
IGL02260:Vill	APN	9	119058441	missense	probably benign	0.00
IGL02507:Vill	APN	9	119070777	missense	possibly damaging	0.86
IGL02870:Vill	APN	9	119061899	missense	probably damaging	1.00
IGL02941:Vill	APN	9	119066887	unclassified	probably benign
IGL02835:Vill	UTSW	9	119067445	missense	probably benign	0.11
R0285:Vill	UTSW	9	119070827	unclassified	probably benign
R0571:Vill	UTSW	9	119070633	missense	possibly damaging	0.93
R1024:Vill	UTSW	9	119066824	missense	probably damaging	1.00
R1168:Vill	UTSW	9	119070321	missense	probably damaging	0.99
R1374:Vill	UTSW	9	119061494	missense	probably benign	0.03
R1400:Vill	UTSW	9	119063347	missense	probably benign	0.01
R1551:Vill	UTSW	9	119063372	missense	probably benign
R1584:Vill	UTSW	9	119065586	missense	probably damaging	1.00
R1630:Vill	UTSW	9	119070701	missense	probably benign	0.37
R1721:Vill	UTSW	9	119066014	missense	probably damaging	0.98
R1946:Vill	UTSW	9	119058492	missense	probably benign
R2311:Vill	UTSW	9	119065897	missense	probably benign	0.08
R2392:Vill	UTSW	9	119067560	unclassified	probably benign
R2509:Vill	UTSW	9	119070302	missense	possibly damaging	0.84
R2760:Vill	UTSW	9	119066882	critical splice donor site	probably null
R3886:Vill	UTSW	9	119066714	missense	probably benign	0.24
R3944:Vill	UTSW	9	119068431	missense	probably benign	0.10
R4245:Vill	UTSW	9	119071291	unclassified	probably benign
R4246:Vill	UTSW	9	119060393	missense	probably damaging	1.00
R4771:Vill	UTSW	9	119068434	missense	probably damaging	1.00
R4889:Vill	UTSW	9	119063341	missense	possibly damaging	0.50
R4932:Vill	UTSW	9	119061511	missense	probably damaging	1.00
R4946:Vill	UTSW	9	119068440	missense	probably damaging	1.00
R5121:Vill	UTSW	9	119070025	missense	possibly damaging	0.92
R6089:Vill	UTSW	9	119057799	missense	probably benign	0.00
R6149:Vill	UTSW	9	119058414	missense	possibly damaging	0.67
R6167:Vill	UTSW	9	119066864	missense	probably damaging	0.98
R6318:Vill	UTSW	9	119063648	missense	probably benign	0.15
R6319:Vill	UTSW	9	119063648	missense	probably benign	0.15
R6590:Vill	UTSW	9	119061907	missense	probably benign	0.04
R6690:Vill	UTSW	9	119061907	missense	probably benign	0.04
R6889:Vill	UTSW	9	119065882	missense	possibly damaging	0.58
R7207:Vill	UTSW	9	119071213	missense	possibly damaging	0.64
R7353:Vill	UTSW	9	119065493	missense	probably damaging	0.99
R7398:Vill	UTSW	9	119070648	missense	probably benign	0.26
R7883:Vill	UTSW	9	119065521	nonsense	probably null
R8165:Vill	UTSW	9	119066753	missense	probably damaging	0.98
R8281:Vill	UTSW	9	119058479	missense	probably damaging	1.00
R8380:Vill	UTSW	9	119057849	missense	probably benign	0.04
R8685:Vill	UTSW	9	119066727	missense	probably benign	0.00
R8847:Vill	UTSW	9	119068446	missense	probably damaging	0.99
R8968:Vill	UTSW	9	119063603	critical splice donor site	probably null
R9290:Vill	UTSW	9	119061494	missense	probably benign	0.03
RF005:Vill	UTSW	9	119060439	missense	probably damaging	1.00
Z1176:Vill	UTSW	9	119069965	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGAATGACACCTCCGGGATG -3'
(R):5'- AGCAGTCAGAAGGAATCCTTTC -3'

Sequencing Primer
(F):5'- TGGGACAGGAATCTGGGCTC -3'
(R):5'- AAGACGGTGTCCCAGAGTGC -3'

Posted On

2016-11-08