Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Vill'

393045

Institutional Source

Beutler Lab

Gene Symbol

Vill

Ensembl Gene

ENSMUSG00000038775

Gene Name

villin-like

Synonyms

Villp

MMRRC Submission

042709-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5121 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119052778-119071525 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119070025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 253 (T253I)

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: T698I

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061731
Gene: ENSMUSG00000038775
AA Change: T698I

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

SMART Domains

Protein: ENSMUSP00000074294
Gene: ENSMUSG00000038775

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: T253I

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116262
Gene: ENSMUSG00000038775
AA Change: T253I

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: T314I

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116546
Gene: ENSMUSG00000038775
AA Change: T314I

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: 98.3%
10x: 96.1%
20x: 91.7%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,281,650 (GRCm38)	I234T	probably damaging	Het
Adam24	A	G	8: 40,679,511 (GRCm38)	E6G	probably damaging	Het
Amz1	A	G	5: 140,744,164 (GRCm38)	D151G	probably benign	Het
Arhgap24	T	C	5: 102,841,335 (GRCm38)	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,532,864 (GRCm38)	N8T	probably benign	Het
Arsi	T	G	18: 60,917,439 (GRCm38)	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,448,825 (GRCm38)	V293A	probably damaging	Het
Bzw2	A	G	12: 36,104,351 (GRCm38)	L340P	probably damaging	Het
Camkmt	C	T	17: 85,096,581 (GRCm38)	T77I	probably benign	Het
Camsap1	G	T	2: 25,935,550 (GRCm38)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,397,123 (GRCm38)		probably null	Het
Cd163	T	C	6: 124,317,989 (GRCm38)	C671R	probably damaging	Het
Cdk7	T	C	13: 100,717,684 (GRCm38)		probably null	Het
Cfi	C	T	3: 129,873,077 (GRCm38)	P483L	probably damaging	Het
Chn2	C	T	6: 54,218,561 (GRCm38)	L72F	possibly damaging	Het
Cntn2	C	A	1: 132,517,060 (GRCm38)	E363*	probably null	Het
Crebbp	T	C	16: 4,093,511 (GRCm38)	E999G	probably damaging	Het
Cspp1	T	A	1: 10,126,463 (GRCm38)	N900K	probably damaging	Het
Cts3	A	C	13: 61,567,595 (GRCm38)	I141M	probably benign	Het
Cwc27	A	T	13: 104,804,353 (GRCm38)	V166D	probably damaging	Het
Defb26	T	C	2: 152,508,165 (GRCm38)	E65G	possibly damaging	Het
Dnah8	A	G	17: 30,810,353 (GRCm38)	T4099A	probably benign	Het
Eml6	A	G	11: 29,744,606 (GRCm38)	F1953L	probably benign	Het
Etl4	T	A	2: 20,340,111 (GRCm38)		probably null	Het
Fbln1	A	G	15: 85,237,671 (GRCm38)	E331G	probably damaging	Het
Gabra4	G	A	5: 71,572,203 (GRCm38)	H76Y	probably benign	Het
Gcat	T	C	15: 79,035,282 (GRCm38)	V149A	probably damaging	Het
Glp2r	A	T	11: 67,722,100 (GRCm38)		probably null	Het
Gm572	T	C	4: 148,666,845 (GRCm38)		probably null	Het
Golgb1	T	C	16: 36,919,258 (GRCm38)	V2653A	probably damaging	Het
Grap2	G	A	15: 80,646,144 (GRCm38)	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,223,301 (GRCm38)	I533L	probably damaging	Het
Gypa	A	T	8: 80,496,348 (GRCm38)	Y27F	unknown	Het
Hipk4	G	A	7: 27,529,492 (GRCm38)	V456I	probably benign	Het
Homer2	A	T	7: 81,649,563 (GRCm38)	D51E	probably benign	Het
Hspa1b	A	T	17: 34,958,004 (GRCm38)	V335E	possibly damaging	Het
Ift122	A	G	6: 115,912,534 (GRCm38)	T827A	probably benign	Het
Igkv1-35	T	C	6: 70,011,135 (GRCm38)	N58S	probably benign	Het
Kat6b	A	T	14: 21,619,258 (GRCm38)	H297L	probably damaging	Het
Kirrel3	G	T	9: 35,013,305 (GRCm38)	G296W	probably damaging	Het
Klhl17	A	G	4: 156,230,625 (GRCm38)	V525A	probably benign	Het
Lrrn1	G	T	6: 107,569,207 (GRCm38)	R655S	possibly damaging	Het
Ltk	T	C	2: 119,753,227 (GRCm38)	N256D	probably damaging	Het
Mill2	G	A	7: 18,856,666 (GRCm38)	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,368 (GRCm38)	H544L	probably benign	Het
Mphosph10	A	G	7: 64,389,596 (GRCm38)	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,676,546 (GRCm38)	K415*	probably null	Het
Myb	T	A	10: 21,126,238 (GRCm38)	M616L	probably benign	Het
Myo15b	C	T	11: 115,886,054 (GRCm38)	R867W	probably damaging	Het
Myo18b	A	T	5: 112,874,480 (GRCm38)		probably benign	Het
Nip7	A	G	8: 107,056,957 (GRCm38)	E8G	possibly damaging	Het
Olfr1318	A	T	2: 112,156,286 (GRCm38)	M112L	possibly damaging	Het
Olfr368	T	G	2: 37,332,589 (GRCm38)	F281V	probably damaging	Het
Olfr38	T	A	6: 42,762,997 (GRCm38)	L315*	probably null	Het
Olfr677	A	G	7: 105,056,482 (GRCm38)	T79A	possibly damaging	Het
Olfr711	T	C	7: 106,972,231 (GRCm38)	I38V	probably benign	Het
Optn	T	A	2: 5,046,106 (GRCm38)	I155F	probably benign	Het
Papolb	A	T	5: 142,528,837 (GRCm38)	H350Q	probably benign	Het
Pappa2	T	A	1: 158,838,627 (GRCm38)	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,321,117 (GRCm38)	N183K	probably benign	Het
Pde12	G	T	14: 26,669,422 (GRCm38)	S44*	probably null	Het
Peg3	T	C	7: 6,710,289 (GRCm38)	K645E	probably benign	Het
Pkd1	C	T	17: 24,573,463 (GRCm38)	R1375C	probably benign	Het
Plekha5	G	A	6: 140,579,474 (GRCm38)	E21K	probably damaging	Het
Plk2	C	T	13: 110,399,424 (GRCm38)	P554L	probably benign	Het
Pnkp	C	T	7: 44,862,403 (GRCm38)	S113L	probably damaging	Het
Polg	A	T	7: 79,464,605 (GRCm38)	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,421,163 (GRCm38)	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,195,805 (GRCm38)	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,370,095 (GRCm38)	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,996,653 (GRCm38)	V497E	probably damaging	Het
Prpf6	T	A	2: 181,636,043 (GRCm38)	H399Q	probably benign	Het
Psg25	T	A	7: 18,526,536 (GRCm38)	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,960,429 (GRCm38)	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,550,756 (GRCm38)	V8A	possibly damaging	Het
Rfk	T	C	19: 17,399,566 (GRCm38)	F144S	probably damaging	Het
Rfwd3	A	C	8: 111,282,753 (GRCm38)		probably null	Het
Rhpn1	T	C	15: 75,709,260 (GRCm38)	I117T	probably damaging	Het
Sars2	A	T	7: 28,747,908 (GRCm38)	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,902,887 (GRCm38)	H256L	probably benign	Het
Sgcz	G	A	8: 37,539,667 (GRCm38)	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,379,257 (GRCm38)	H157Q	probably benign	Het
Spen	T	A	4: 141,476,099 (GRCm38)	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657 (GRCm38)	S323R	possibly damaging	Het
Szt2	T	C	4: 118,385,444 (GRCm38)	E1482G	possibly damaging	Het
Tex15	A	T	8: 33,571,766 (GRCm38)	K408I	probably damaging	Het
Tex33	C	T	15: 78,386,173 (GRCm38)	E132K	probably benign	Het
Trem1	T	A	17: 48,232,836 (GRCm38)	F14L	probably null	Het
Trim26	G	T	17: 36,851,066 (GRCm38)	E126*	probably null	Het
Trpv3	T	C	11: 73,277,834 (GRCm38)		probably null	Het
Ttn	T	A	2: 76,916,491 (GRCm38)		probably null	Het
Ubap1	C	T	4: 41,379,688 (GRCm38)	L301F	probably benign	Het
Uchl1	T	C	5: 66,676,437 (GRCm38)	M12T	probably benign	Het
Vmn2r107	C	T	17: 20,355,753 (GRCm38)	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,053,553 (GRCm38)	S21P	probably benign	Het
Wapl	A	G	14: 34,677,162 (GRCm38)	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,126 (GRCm38)	K175E	possibly damaging	Het
Zfp592	T	C	7: 81,023,561 (GRCm38)	L91P	probably damaging	Het
Zfp74	T	C	7: 29,932,507 (GRCm38)		probably null	Het
Zglp1	A	T	9: 21,062,661 (GRCm38)	I243N	probably benign	Het
Zranb1	A	G	7: 132,950,187 (GRCm38)	E215G	probably benign	Het

Other mutations in Vill

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Vill	APN	9	119,063,312 (GRCm38)	missense	probably damaging	1.00
IGL01024:Vill	APN	9	119,070,350 (GRCm38)	critical splice donor site	probably null
IGL01934:Vill	APN	9	119,066,809 (GRCm38)	missense	probably damaging	1.00
IGL02118:Vill	APN	9	119,060,398 (GRCm38)	missense	probably benign	0.44
IGL02260:Vill	APN	9	119,058,441 (GRCm38)	missense	probably benign	0.00
IGL02507:Vill	APN	9	119,070,777 (GRCm38)	missense	possibly damaging	0.86
IGL02870:Vill	APN	9	119,061,899 (GRCm38)	missense	probably damaging	1.00
IGL02941:Vill	APN	9	119,066,887 (GRCm38)	unclassified	probably benign
IGL02835:Vill	UTSW	9	119,067,445 (GRCm38)	missense	probably benign	0.11
R0285:Vill	UTSW	9	119,070,827 (GRCm38)	unclassified	probably benign
R0571:Vill	UTSW	9	119,070,633 (GRCm38)	missense	possibly damaging	0.93
R1024:Vill	UTSW	9	119,066,824 (GRCm38)	missense	probably damaging	1.00
R1168:Vill	UTSW	9	119,070,321 (GRCm38)	missense	probably damaging	0.99
R1374:Vill	UTSW	9	119,061,494 (GRCm38)	missense	probably benign	0.03
R1400:Vill	UTSW	9	119,063,347 (GRCm38)	missense	probably benign	0.01
R1551:Vill	UTSW	9	119,063,372 (GRCm38)	missense	probably benign
R1584:Vill	UTSW	9	119,065,586 (GRCm38)	missense	probably damaging	1.00
R1630:Vill	UTSW	9	119,070,701 (GRCm38)	missense	probably benign	0.37
R1721:Vill	UTSW	9	119,066,014 (GRCm38)	missense	probably damaging	0.98
R1946:Vill	UTSW	9	119,058,492 (GRCm38)	missense	probably benign
R2311:Vill	UTSW	9	119,065,897 (GRCm38)	missense	probably benign	0.08
R2392:Vill	UTSW	9	119,067,560 (GRCm38)	unclassified	probably benign
R2509:Vill	UTSW	9	119,070,302 (GRCm38)	missense	possibly damaging	0.84
R2760:Vill	UTSW	9	119,066,882 (GRCm38)	critical splice donor site	probably null
R3886:Vill	UTSW	9	119,066,714 (GRCm38)	missense	probably benign	0.24
R3944:Vill	UTSW	9	119,068,431 (GRCm38)	missense	probably benign	0.10
R4245:Vill	UTSW	9	119,071,291 (GRCm38)	unclassified	probably benign
R4246:Vill	UTSW	9	119,060,393 (GRCm38)	missense	probably damaging	1.00
R4771:Vill	UTSW	9	119,068,434 (GRCm38)	missense	probably damaging	1.00
R4889:Vill	UTSW	9	119,063,341 (GRCm38)	missense	possibly damaging	0.50
R4932:Vill	UTSW	9	119,061,511 (GRCm38)	missense	probably damaging	1.00
R4946:Vill	UTSW	9	119,068,440 (GRCm38)	missense	probably damaging	1.00
R5646:Vill	UTSW	9	119,071,162 (GRCm38)	missense	probably damaging	1.00
R6089:Vill	UTSW	9	119,057,799 (GRCm38)	missense	probably benign	0.00
R6149:Vill	UTSW	9	119,058,414 (GRCm38)	missense	possibly damaging	0.67
R6167:Vill	UTSW	9	119,066,864 (GRCm38)	missense	probably damaging	0.98
R6318:Vill	UTSW	9	119,063,648 (GRCm38)	missense	probably benign	0.15
R6319:Vill	UTSW	9	119,063,648 (GRCm38)	missense	probably benign	0.15
R6590:Vill	UTSW	9	119,061,907 (GRCm38)	missense	probably benign	0.04
R6690:Vill	UTSW	9	119,061,907 (GRCm38)	missense	probably benign	0.04
R6889:Vill	UTSW	9	119,065,882 (GRCm38)	missense	possibly damaging	0.58
R7207:Vill	UTSW	9	119,071,213 (GRCm38)	missense	possibly damaging	0.64
R7353:Vill	UTSW	9	119,065,493 (GRCm38)	missense	probably damaging	0.99
R7398:Vill	UTSW	9	119,070,648 (GRCm38)	missense	probably benign	0.26
R7883:Vill	UTSW	9	119,065,521 (GRCm38)	nonsense	probably null
R8165:Vill	UTSW	9	119,066,753 (GRCm38)	missense	probably damaging	0.98
R8281:Vill	UTSW	9	119,058,479 (GRCm38)	missense	probably damaging	1.00
R8380:Vill	UTSW	9	119,057,849 (GRCm38)	missense	probably benign	0.04
R8685:Vill	UTSW	9	119,066,727 (GRCm38)	missense	probably benign	0.00
R8847:Vill	UTSW	9	119,068,446 (GRCm38)	missense	probably damaging	0.99
R8968:Vill	UTSW	9	119,063,603 (GRCm38)	critical splice donor site	probably null
R9290:Vill	UTSW	9	119,061,494 (GRCm38)	missense	probably benign	0.03
RF005:Vill	UTSW	9	119,060,439 (GRCm38)	missense	probably damaging	1.00
Z1176:Vill	UTSW	9	119,069,965 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGCCATCTGAGTTGGGAG -3'
(R):5'- AAGCCCAAGATCAGGTTCC -3'

Sequencing Primer
(F):5'- TGGCTGTCACAAGCAGTC -3'
(R):5'- AAGATCAGGTTCCCCTCCC -3'

Posted On

2016-06-15