Mutagenetix > Incidental Mutation

Incidental Mutation 'R4771:Vill'

367524

Institutional Source

Beutler Lab

Gene Symbol

Vill

Ensembl Gene

ENSMUSG00000038775

Gene Name

villin-like

Synonyms

Villp

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4771 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118881846-118900593 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118897502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 259 (M259K)

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 damaging
Transcript: ENSMUST00000051386
AA Change: M643K

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

SMART Domains

Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: M643K

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 damaging
Transcript: ENSMUST00000074734
AA Change: M643K

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

SMART Domains

Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775
AA Change: M643K

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: M198K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
AA Change: M198K

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: M259K

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

SMART Domains

Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
AA Change: M259K

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

noncoding transcript
Transcript: ENSMUST00000214491

Predicted Effect

probably benign
Transcript: ENSMUST00000213464

Predicted Effect

probably benign
Transcript: ENSMUST00000214470

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,300 (GRCm39)	T148A	probably benign	Het
Abcc4	G	T	14: 118,721,796 (GRCm39)	N1234K	probably benign	Het
Adamts20	C	T	15: 94,249,516 (GRCm39)		probably null	Het
Aqp9	C	T	9: 71,030,152 (GRCm39)	G212S	probably damaging	Het
Asb15	A	T	6: 24,570,621 (GRCm39)	N533I	probably damaging	Het
Brwd1	A	G	16: 95,804,518 (GRCm39)	V1884A	probably benign	Het
Ccdc106	G	A	7: 5,060,521 (GRCm39)		probably null	Het
Cfap46	A	T	7: 139,210,524 (GRCm39)	L1774Q	probably null	Het
Cfap95	A	G	19: 23,536,337 (GRCm39)	L190P	probably damaging	Het
Cibar1	T	A	4: 12,155,689 (GRCm39)	Q311L	probably benign	Het
Clec2h	G	A	6: 128,651,118 (GRCm39)	E133K	probably damaging	Het
Cntn1	T	A	15: 92,202,972 (GRCm39)	F751L	possibly damaging	Het
Col20a1	A	T	2: 180,630,917 (GRCm39)	M62L	probably benign	Het
Col7a1	T	C	9: 108,800,993 (GRCm39)	V1899A	probably damaging	Het
Cpa5	T	A	6: 30,612,684 (GRCm39)	L28*	probably null	Het
Crb1	T	A	1: 139,255,942 (GRCm39)	E264D	probably damaging	Het
Creb3l2	A	T	6: 37,311,512 (GRCm39)	S426T	probably benign	Het
Cspg5	T	A	9: 110,080,195 (GRCm39)	N373K	probably damaging	Het
Ctso	T	C	3: 81,840,047 (GRCm39)	S26P	probably benign	Het
Depdc1b	A	C	13: 108,519,434 (GRCm39)	D348A	probably benign	Het
Diaph1	A	T	18: 37,986,604 (GRCm39)	M1127K	probably damaging	Het
Dlgap1	A	T	17: 70,900,375 (GRCm39)	K397*	probably null	Het
Dock3	T	A	9: 106,829,557 (GRCm39)	H1119L	possibly damaging	Het
Dok4	G	T	8: 95,591,795 (GRCm39)		probably null	Het
Dram2	A	G	3: 106,480,361 (GRCm39)	T225A	probably damaging	Het
Dst	G	A	1: 34,288,565 (GRCm39)	R5603H	probably damaging	Het
Ehbp1l1	A	G	19: 5,775,996 (GRCm39)	F18S	probably damaging	Het
Epha5	A	G	5: 84,298,278 (GRCm39)	V427A	probably damaging	Het
Exoc4	A	T	6: 33,418,884 (GRCm39)		probably null	Het
Exph5	C	T	9: 53,284,965 (GRCm39)	T682I	possibly damaging	Het
Fnbp1l	A	T	3: 122,351,752 (GRCm39)	S264T	possibly damaging	Het
Ggnbp2	A	T	11: 84,725,314 (GRCm39)	D580E	probably benign	Het
Gm10277	G	A	11: 77,676,534 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,756,126 (GRCm39)	V352E	probably damaging	Het
Gtf2a1l	C	A	17: 88,997,448 (GRCm39)	P93Q	probably benign	Het
Hydin	A	T	8: 111,259,515 (GRCm39)	I2496F	probably benign	Het
Ighv7-2	A	C	12: 113,876,087 (GRCm39)	I6S	probably benign	Het
Irs1	A	G	1: 82,265,696 (GRCm39)	V840A	probably benign	Het
Itgal	A	G	7: 126,927,405 (GRCm39)	E965G	probably damaging	Het
Izumo1	T	G	7: 45,272,233 (GRCm39)	F5V	probably benign	Het
Izumo1	T	A	7: 45,272,234 (GRCm39)	F5Y	probably damaging	Het
Kif13a	A	G	13: 46,978,687 (GRCm39)	S175P	probably damaging	Het
Klf14	A	G	6: 30,934,960 (GRCm39)	F225L	probably damaging	Het
Kpna1	T	C	16: 35,853,773 (GRCm39)	Y468H	probably damaging	Het
Krt5	T	A	15: 101,617,494 (GRCm39)	Q413L	probably damaging	Het
Lbr	T	C	1: 181,665,986 (GRCm39)	Y41C	probably damaging	Het
Lmcd1	A	T	6: 112,292,834 (GRCm39)	N229Y	probably damaging	Het
Marchf3	T	A	18: 56,916,170 (GRCm39)	H175L	probably benign	Het
Mcmbp	A	G	7: 128,300,124 (GRCm39)		probably null	Het
Med27	T	A	2: 29,303,515 (GRCm39)	L16Q	probably damaging	Het
Mex3b	A	T	7: 82,518,273 (GRCm39)	Q196L	possibly damaging	Het
Mga	T	C	2: 119,794,775 (GRCm39)	S2820P	probably damaging	Het
Mroh2a	C	T	1: 88,179,087 (GRCm39)	L1104F	probably damaging	Het
Mta3	A	G	17: 84,063,103 (GRCm39)	E166G	probably damaging	Het
Mthfd2l	A	G	5: 91,096,727 (GRCm39)	E116G	possibly damaging	Het
Musk	A	G	4: 58,301,706 (GRCm39)	I155V	probably benign	Het
Myh7b	G	A	2: 155,468,314 (GRCm39)	W834*	probably null	Het
Myo18b	T	A	5: 112,840,093 (GRCm39)	R2567*	probably null	Het
Nars2	A	T	7: 96,684,452 (GRCm39)	E325V	probably damaging	Het
Nploc4	A	G	11: 120,312,260 (GRCm39)	V106A	possibly damaging	Het
Nudcd1	A	T	15: 44,268,878 (GRCm39)	S167R	probably damaging	Het
Nup133	T	A	8: 124,656,137 (GRCm39)	D448V	probably damaging	Het
Or5al1	G	T	2: 85,990,417 (GRCm39)	T99N	probably benign	Het
Or5p70	A	T	7: 107,995,229 (GRCm39)	K301*	probably null	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pcdh8	C	T	14: 80,005,710 (GRCm39)	A893T	possibly damaging	Het
Per3	A	T	4: 151,093,716 (GRCm39)	V1033E	probably damaging	Het
Polr1e	T	C	4: 45,019,282 (GRCm39)	S44P	probably damaging	Het
Pou4f2	T	A	8: 79,161,865 (GRCm39)	H246L	possibly damaging	Het
Psmd2	G	A	16: 20,481,429 (GRCm39)	R828Q	probably damaging	Het
Ptprq	A	G	10: 107,524,288 (GRCm39)	S482P	probably benign	Het
Rbm14	G	T	19: 4,852,671 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,254,698 (GRCm39)	D557G	probably damaging	Het
Rhobtb2	A	G	14: 70,034,499 (GRCm39)	I242T	probably benign	Het
Runx1	C	A	16: 92,492,629 (GRCm39)	V5L	possibly damaging	Het
Shld2	G	A	14: 33,990,663 (GRCm39)	T81M	probably damaging	Het
Slc13a1	A	T	6: 24,100,339 (GRCm39)	Y381*	probably null	Het
Smyd3	A	T	1: 178,921,961 (GRCm39)	C180S	probably damaging	Het
Sntg2	T	A	12: 30,326,658 (GRCm39)		probably null	Het
Snx19	G	A	9: 30,344,934 (GRCm39)	V678I	probably damaging	Het
Spag5	G	A	11: 78,195,592 (GRCm39)	A300T	probably damaging	Het
Spdl1	T	A	11: 34,704,154 (GRCm39)	R560W	probably damaging	Het
Spen	T	C	4: 141,199,907 (GRCm39)	T2884A	probably benign	Het
Spg11	G	A	2: 121,895,963 (GRCm39)	Q1752*	probably null	Het
Srrm4	C	A	5: 116,613,234 (GRCm39)		probably null	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Sspo	A	G	6: 48,437,813 (GRCm39)	D1324G	probably damaging	Het
Tkt	T	G	14: 30,288,982 (GRCm39)	I238S	probably damaging	Het
Tmem184b	A	T	15: 79,261,377 (GRCm39)	N76K	probably benign	Het
Trpm6	A	G	19: 18,790,857 (GRCm39)	M631V	probably damaging	Het
Ttll6	A	C	11: 96,024,655 (GRCm39)	E15A	possibly damaging	Het
Ttn	T	C	2: 76,569,296 (GRCm39)	D27199G	probably damaging	Het
Ubn2	A	T	6: 38,464,088 (GRCm39)		probably null	Het
Ubr5	A	C	15: 38,018,541 (GRCm39)	I866M	possibly damaging	Het
Urb1	T	C	16: 90,550,406 (GRCm39)	T2149A	probably benign	Het
Ush2a	G	T	1: 188,529,966 (GRCm39)	V3252L	possibly damaging	Het
Usp24	A	G	4: 106,219,377 (GRCm39)		probably null	Het
Vldlr	T	C	19: 27,217,290 (GRCm39)	I411T	probably damaging	Het
Vmn2r120	A	T	17: 57,831,887 (GRCm39)	W301R	probably damaging	Het
Vps13b	G	A	15: 35,910,946 (GRCm39)	S3570N	probably damaging	Het
Vps13c	T	C	9: 67,836,821 (GRCm39)	V1773A	probably benign	Het
Vtn	A	G	11: 78,392,400 (GRCm39)	D326G	probably benign	Het
Wdr93	A	T	7: 79,426,511 (GRCm39)	H592L	probably damaging	Het
Zdhhc19	A	G	16: 32,317,953 (GRCm39)	D94G	probably damaging	Het
Zfand4	A	T	6: 116,291,311 (GRCm39)	E188V	probably damaging	Het
Zfp523	C	A	17: 28,420,312 (GRCm39)		probably null	Het
Zfp536	T	C	7: 37,268,309 (GRCm39)	D369G	probably damaging	Het
Zfp608	T	A	18: 55,121,372 (GRCm39)	T72S	probably benign	Het
Zfp804a	T	A	2: 82,088,286 (GRCm39)	V705E	probably benign	Het
Zfp974	T	C	7: 27,625,733 (GRCm39)	T46A	probably damaging	Het
Zkscan4	C	T	13: 21,663,416 (GRCm39)	Q52*	probably null	Het

Other mutations in Vill

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Vill	APN	9	118,892,380 (GRCm39)	missense	probably damaging	1.00
IGL01024:Vill	APN	9	118,899,418 (GRCm39)	critical splice donor site	probably null
IGL01934:Vill	APN	9	118,895,877 (GRCm39)	missense	probably damaging	1.00
IGL02118:Vill	APN	9	118,889,466 (GRCm39)	missense	probably benign	0.44
IGL02260:Vill	APN	9	118,887,509 (GRCm39)	missense	probably benign	0.00
IGL02507:Vill	APN	9	118,899,845 (GRCm39)	missense	possibly damaging	0.86
IGL02870:Vill	APN	9	118,890,967 (GRCm39)	missense	probably damaging	1.00
IGL02941:Vill	APN	9	118,895,955 (GRCm39)	unclassified	probably benign
IGL02835:Vill	UTSW	9	118,896,513 (GRCm39)	missense	probably benign	0.11
R0285:Vill	UTSW	9	118,899,895 (GRCm39)	unclassified	probably benign
R0571:Vill	UTSW	9	118,899,701 (GRCm39)	missense	possibly damaging	0.93
R1024:Vill	UTSW	9	118,895,892 (GRCm39)	missense	probably damaging	1.00
R1168:Vill	UTSW	9	118,899,389 (GRCm39)	missense	probably damaging	0.99
R1374:Vill	UTSW	9	118,890,562 (GRCm39)	missense	probably benign	0.03
R1400:Vill	UTSW	9	118,892,415 (GRCm39)	missense	probably benign	0.01
R1551:Vill	UTSW	9	118,892,440 (GRCm39)	missense	probably benign
R1584:Vill	UTSW	9	118,894,654 (GRCm39)	missense	probably damaging	1.00
R1630:Vill	UTSW	9	118,899,769 (GRCm39)	missense	probably benign	0.37
R1721:Vill	UTSW	9	118,895,082 (GRCm39)	missense	probably damaging	0.98
R1946:Vill	UTSW	9	118,887,560 (GRCm39)	missense	probably benign
R2311:Vill	UTSW	9	118,894,965 (GRCm39)	missense	probably benign	0.08
R2392:Vill	UTSW	9	118,896,628 (GRCm39)	unclassified	probably benign
R2509:Vill	UTSW	9	118,899,370 (GRCm39)	missense	possibly damaging	0.84
R2760:Vill	UTSW	9	118,895,950 (GRCm39)	critical splice donor site	probably null
R3886:Vill	UTSW	9	118,895,782 (GRCm39)	missense	probably benign	0.24
R3944:Vill	UTSW	9	118,897,499 (GRCm39)	missense	probably benign	0.10
R4245:Vill	UTSW	9	118,900,359 (GRCm39)	unclassified	probably benign
R4246:Vill	UTSW	9	118,889,461 (GRCm39)	missense	probably damaging	1.00
R4889:Vill	UTSW	9	118,892,409 (GRCm39)	missense	possibly damaging	0.50
R4932:Vill	UTSW	9	118,890,579 (GRCm39)	missense	probably damaging	1.00
R4946:Vill	UTSW	9	118,897,508 (GRCm39)	missense	probably damaging	1.00
R5121:Vill	UTSW	9	118,899,093 (GRCm39)	missense	possibly damaging	0.92
R5646:Vill	UTSW	9	118,900,230 (GRCm39)	missense	probably damaging	1.00
R6089:Vill	UTSW	9	118,886,867 (GRCm39)	missense	probably benign	0.00
R6149:Vill	UTSW	9	118,887,482 (GRCm39)	missense	possibly damaging	0.67
R6167:Vill	UTSW	9	118,895,932 (GRCm39)	missense	probably damaging	0.98
R6318:Vill	UTSW	9	118,892,716 (GRCm39)	missense	probably benign	0.15
R6319:Vill	UTSW	9	118,892,716 (GRCm39)	missense	probably benign	0.15
R6590:Vill	UTSW	9	118,890,975 (GRCm39)	missense	probably benign	0.04
R6690:Vill	UTSW	9	118,890,975 (GRCm39)	missense	probably benign	0.04
R6889:Vill	UTSW	9	118,894,950 (GRCm39)	missense	possibly damaging	0.58
R7207:Vill	UTSW	9	118,900,281 (GRCm39)	missense	possibly damaging	0.64
R7353:Vill	UTSW	9	118,894,561 (GRCm39)	missense	probably damaging	0.99
R7398:Vill	UTSW	9	118,899,716 (GRCm39)	missense	probably benign	0.26
R7883:Vill	UTSW	9	118,894,589 (GRCm39)	nonsense	probably null
R8165:Vill	UTSW	9	118,895,821 (GRCm39)	missense	probably damaging	0.98
R8281:Vill	UTSW	9	118,887,547 (GRCm39)	missense	probably damaging	1.00
R8380:Vill	UTSW	9	118,886,917 (GRCm39)	missense	probably benign	0.04
R8685:Vill	UTSW	9	118,895,795 (GRCm39)	missense	probably benign	0.00
R8847:Vill	UTSW	9	118,897,514 (GRCm39)	missense	probably damaging	0.99
R8968:Vill	UTSW	9	118,892,671 (GRCm39)	critical splice donor site	probably null
R9290:Vill	UTSW	9	118,890,562 (GRCm39)	missense	probably benign	0.03
RF005:Vill	UTSW	9	118,889,507 (GRCm39)	missense	probably damaging	1.00
Z1176:Vill	UTSW	9	118,899,033 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGCTTTCCCTGAGGTAG -3'
(R):5'- TGCAGGTTCAAAGAGTCCCC -3'

Sequencing Primer
(F):5'- CCTGAGGTAGGGAGAGCACC -3'
(R):5'- AGGTTCAAAGAGTCCCCTGTGC -3'

Posted On

2015-12-29