Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:Vill'

101343

Institutional Source

Beutler Lab

Gene Symbol

Vill

Ensembl Gene

ENSMUSG00000038775

Gene Name

villin-like

Synonyms

Villp

MMRRC Submission

039241-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1168 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119052778-119071525 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119070321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 343 (P343Q)

Ref Sequence

ENSEMBL: ENSMUSP00000116546 (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

probably benign
Transcript: ENSMUST00000051386
AA Change: P727Q

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: P727Q

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

probably benign
Transcript: ENSMUST00000074734
AA Change: P665Q

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

SMART Domains

Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: P665Q

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

possibly damaging
Transcript: ENSMUST00000126251
AA Change: P282Q

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
AA Change: P282Q

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

probably damaging
Transcript: ENSMUST00000141185
AA Change: P343Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
AA Change: P343Q

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: ENSMUST00000151638

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: 99.1%
3x: 98.1%
10x: 95.2%
20x: 88.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,067,900	V950A	probably benign	Het
4930452B06Rik	T	C	14: 8,442,939	N610S	probably benign	Het
Adgrb3	A	T	1: 25,826,199	S188T	probably benign	Het
Ahr	A	T	12: 35,504,532	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,583,837	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,384,631		probably null	Het
Alpk3	A	T	7: 81,103,357	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,273,396	H360Q	probably benign	Het
Cacna1a	A	G	8: 84,579,501	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,832,944	W72R	probably damaging	Het
Ces2e	A	T	8: 104,927,014	D28V	possibly damaging	Het
Cfap45	T	C	1: 172,545,697	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,937,920	C87S	probably damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Chrna4	T	A	2: 181,034,138	M67L	possibly damaging	Het
Cts7	T	A	13: 61,353,817	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,030,454	M94L	probably damaging	Het
Fam83d	C	T	2: 158,768,523	A137V	probably benign	Het
Foxd2	C	T	4: 114,907,678	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,250,246	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,704,469	D856E	probably damaging	Het
Gclm	T	A	3: 122,262,688	H86Q	possibly damaging	Het
Gipc2	T	C	3: 152,107,997	T220A	probably benign	Het
Gm12185	G	T	11: 48,915,355	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,895,364	S61R	probably benign	Het
Gm884	T	C	11: 103,618,950		probably benign	Het
Gorasp2	C	T	2: 70,688,400	P260S	probably damaging	Het
H2-M10.6	A	G	17: 36,813,160	Q172R	probably benign	Het
Ibsp	A	G	5: 104,302,152	I6V	probably damaging	Het
Iqsec1	T	C	6: 90,689,676	Y593C	probably damaging	Het
Itln1	G	T	1: 171,531,551	Y61*	probably null	Het
Kif21a	G	A	15: 90,993,753	T284I	probably damaging	Het
Kif3a	G	A	11: 53,598,312	G621R	probably damaging	Het
Klb	A	G	5: 65,378,974	Y549C	probably damaging	Het
Lman1l	G	A	9: 57,608,312	R427C	probably benign	Het
Map4	T	C	9: 110,034,964	V419A	probably benign	Het
Mastl	A	T	2: 23,133,132	D526E	probably benign	Het
Mrvi1	T	C	7: 110,895,931	K429R	probably damaging	Het
Mtif2	A	G	11: 29,536,914	D308G	probably benign	Het
Ncald	A	G	15: 37,397,334	F34S	probably damaging	Het
Ndc1	A	G	4: 107,395,812	T593A	probably benign	Het
Ndst3	C	T	3: 123,606,968	V15I	probably benign	Het
Nup214	A	G	2: 32,025,301	N1166D	probably benign	Het
Olfr1031	A	T	2: 85,992,684	Y289F	probably damaging	Het
Olfr1240	G	A	2: 89,439,869	Q137*	probably null	Het
Olfr1368	A	G	13: 21,142,617	S147P	probably benign	Het
Olfr403	A	G	11: 74,196,421	H306R	probably benign	Het
Pcdhb8	T	C	18: 37,356,727	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,770,271	Y768F	probably benign	Het
Pgf	A	G	12: 85,171,767	S70P	probably benign	Het
Plcl2	G	A	17: 50,607,072	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,862,537	W115R	probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prag1	A	G	8: 36,146,645	E1117G	probably damaging	Het
Prr12	T	A	7: 45,029,047	Q1919L	unknown	Het
Ret	G	T	6: 118,173,558	H666N	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Robo2	C	T	16: 73,948,296	G864S	probably damaging	Het
Rpa2	T	G	4: 132,771,860	I80S	probably damaging	Het
Ryk	A	T	9: 102,898,475	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,590,278	N30K	probably damaging	Het
Stbd1	A	G	5: 92,604,936	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,292,134	E212G	probably benign	Het
Tex14	A	G	11: 87,536,742	T7A	probably benign	Het
Tmc8	T	C	11: 117,792,563	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,787,019	V730F	probably damaging	Het
Tmub2	G	A	11: 102,287,370	G33D	possibly damaging	Het
Trak1	G	A	9: 121,440,679	D124N	probably damaging	Het
Ttc28	A	T	5: 111,231,111	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,909,369	T3609A	probably benign	Het
Tulp2	A	G	7: 45,517,842	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,465,568		probably null	Het
Ush2a	G	A	1: 188,678,411	V2419I	probably benign	Het
Vmn2r66	T	A	7: 85,006,854	H318L	possibly damaging	Het
Wdr3	A	C	3: 100,142,219	N800K	probably benign	Het
Wdr93	A	G	7: 79,749,174	K19E	probably damaging	Het
Wrn	A	G	8: 33,316,408	S333P	probably damaging	Het
Zfp418	T	C	7: 7,182,501	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,256,697	E290G	probably benign	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
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
R5646:Vill	UTSW	9	119071162	missense	probably damaging	1.00
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

Posted On

2014-01-15