Mutagenetix > Incidental Mutation

Incidental Mutation 'R5285:Avil'

403002

Institutional Source

Beutler Lab

Gene Symbol

Avil

Ensembl Gene

ENSMUSG00000025432

Gene Name

advillin

Synonyms

DOC6

MMRRC Submission

042869-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R5285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127000709-127020994 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127018459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 765 (L765P)

Ref Sequence

ENSEMBL: ENSMUSP00000123405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026500] [ENSMUST00000040560] [ENSMUST00000129173] [ENSMUST00000152054]

AlphaFold

O88398

Predicted Effect

probably damaging
Transcript: ENSMUST00000026500
AA Change: L765P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
AA Change: L765P

Domain	Start	End	E-Value	Type
GEL	14	111	9.44e-24	SMART
GEL	132	226	8.89e-20	SMART
GEL	253	346	1.19e-29	SMART
GEL	395	492	2.07e-29	SMART
GEL	512	598	4.01e-27	SMART
GEL	617	711	2.81e-31	SMART
VHP	784	819	1.31e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040560

SMART Domains

Protein: ENSMUSP00000042134
Gene: ENSMUSG00000040521

Domain	Start	End	E-Value	Type
low complexity region	38	52	N/A	INTRINSIC
Pfam:EF_TS	115	273	9.6e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000129173
AA Change: L765P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432
AA Change: L765P

Domain	Start	End	E-Value	Type
GEL	14	111	9.44e-24	SMART
GEL	132	226	8.89e-20	SMART
GEL	253	346	1.19e-29	SMART
GEL	395	492	2.07e-29	SMART
GEL	512	598	4.01e-27	SMART
GEL	617	711	2.81e-31	SMART
VHP	784	819	1.31e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145476

Predicted Effect

probably benign
Transcript: ENSMUST00000152054

SMART Domains

Protein: ENSMUSP00000122669
Gene: ENSMUSG00000040521

Domain	Start	End	E-Value	Type
Pfam:UBA	44	81	1.2e-10	PFAM
SCOP:d1efub4	101	120	5e-4	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes null mice show partial embryonic lethality before E10.5, but surviving mice are fertile and exhibit no abnormal behavior into adult. The regenerative axon growth and remodeling of sensory nerves are abnormal in homozygous null mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,708,465	T12A	probably benign	Het
Acbd6	T	A	1: 155,558,725	S30T	probably benign	Het
Adcy8	G	T	15: 64,767,857	H685N	possibly damaging	Het
Aldh1l1	A	T	6: 90,576,770	K539*	probably null	Het
Ap1m2	G	T	9: 21,305,637	Y134*	probably null	Het
Apobr	A	G	7: 126,585,003		probably benign	Het
Atl1	A	G	12: 69,954,499	K345R	probably benign	Het
Caps2	T	A	10: 112,208,311	Y472N	probably benign	Het
Cd177	A	T	7: 24,746,249	S590T	probably benign	Het
Cep295	T	C	9: 15,322,591	D2223G	probably benign	Het
Cfh	T	C	1: 140,100,898	T493A	probably benign	Het
Chek1	T	C	9: 36,714,452	D299G	probably benign	Het
Cpox	G	A	16: 58,675,286	G322D	probably damaging	Het
Crhr1	A	T	11: 104,170,497	I243F	possibly damaging	Het
Cyp3a11	A	G	5: 145,855,083	V500A	probably benign	Het
Dcdc5	A	T	2: 106,368,155		noncoding transcript	Het
Ergic3	A	G	2: 156,018,037		probably benign	Het
Fabp3-ps1	T	G	10: 86,732,202		probably benign	Het
Gm16432	A	G	1: 178,103,888	K458E	unknown	Het
Gm6445	C	A	19: 9,607,668		noncoding transcript	Het
Gucy2d	C	A	7: 98,458,267		probably null	Het
Ighv1-19-1	C	A	12: 114,704,252		probably benign	Het
Igkv2-116	G	T	6: 68,152,479	R75L	probably benign	Het
Inhbc	C	A	10: 127,357,400	R249L	probably damaging	Het
Lrrn2	T	A	1: 132,939,245	S683T	possibly damaging	Het
Lyst	T	C	13: 13,634,426	V227A	probably benign	Het
Mroh5	TGGAG	TG	15: 73,783,074		probably benign	Het
Msh4	T	C	3: 153,873,713	N587S	probably benign	Het
Mug1	G	A	6: 121,841,107	E126K	probably benign	Het
Nav2	T	C	7: 49,548,234	S1204P	probably damaging	Het
Ncor1	A	G	11: 62,392,649	I413T	probably damaging	Het
Nipa2	A	T	7: 55,933,012	Y328*	probably null	Het
Olfr178	A	T	16: 58,890,108	Y37*	probably null	Het
Olfr195	T	C	16: 59,149,270	L140P	probably damaging	Het
Olfr384	T	A	11: 73,602,941	Y120*	probably null	Het
Olfr593	C	T	7: 103,212,798	R302*	probably null	Het
Olfr645	A	G	7: 104,084,133	*316R	probably null	Het
Pla2g4e	T	C	2: 120,189,504	D155G	probably damaging	Het
Plxnb1	C	T	9: 109,108,459	T1176I	probably damaging	Het
Polg	A	G	7: 79,465,225		probably benign	Het
Prl8a2	G	A	13: 27,350,133		probably null	Het
Prmt7	G	A	8: 106,248,359	R529Q	probably benign	Het
Psg17	T	A	7: 18,820,201	L41F	probably benign	Het
Rad18	T	C	6: 112,686,765	R73G	probably benign	Het
Rhpn2	G	T	7: 35,381,565		probably benign	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Sarm1	A	G	11: 78,497,439	F7S	probably benign	Het
Sgip1	T	A	4: 102,921,477		probably benign	Het
Sh3gl2	A	G	4: 85,376,449	K99R	probably benign	Het
Sorbs1	G	A	19: 40,321,890	T1018I	probably damaging	Het
Spns2	G	A	11: 72,489,479	A106V	possibly damaging	Het
Stab1	A	G	14: 31,143,476		probably benign	Het
Steap3	T	C	1: 120,241,880	D191G	probably damaging	Het
Stxbp5	T	C	10: 9,798,275		probably null	Het
Sycp2	A	T	2: 178,392,398		probably null	Het
Tm6sf1	A	G	7: 81,859,452	S2G	possibly damaging	Het
Usp24	T	A	4: 106,407,033	D1720E	probably benign	Het
Vmn1r200	G	A	13: 22,395,287	E78K	possibly damaging	Het
Vmn2r120	A	G	17: 57,536,703	L47P	probably damaging	Het
Vmn2r14	T	C	5: 109,217,576	N544S	probably damaging	Het
Vwa1	C	T	4: 155,770,895	A254T	probably benign	Het
Zfp7	G	A	15: 76,891,222	R488Q	probably damaging	Het
Zfp940	A	T	7: 29,845,600	L294H	probably damaging	Het

Other mutations in Avil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Avil	APN	10	127017034	critical splice donor site	probably null
IGL01893:Avil	APN	10	127020546	missense	possibly damaging	0.73
IGL02127:Avil	APN	10	127011826	missense	probably benign	0.13
IGL02425:Avil	APN	10	127018447	missense	probably benign
IGL02458:Avil	APN	10	127016353	missense	probably benign	0.00
IGL02707:Avil	APN	10	127006562	missense	probably damaging	1.00
IGL02805:Avil	APN	10	127007617	missense	possibly damaging	0.79
IGL02836:Avil	APN	10	127008995	missense	probably damaging	1.00
IGL02961:Avil	APN	10	127008306	missense	probably benign	0.00
IGL03025:Avil	APN	10	127013577	missense	probably benign	0.19
IGL03083:Avil	APN	10	127016324	missense	probably benign	0.31
IGL03345:Avil	APN	10	127008957	unclassified	probably benign
IGL03365:Avil	APN	10	127010983	missense	probably damaging	1.00
R0109:Avil	UTSW	10	127013644	missense	probably benign
R0109:Avil	UTSW	10	127013644	missense	probably benign
R1159:Avil	UTSW	10	127011790	missense	possibly damaging	0.94
R1631:Avil	UTSW	10	127010625	splice site	probably null
R2026:Avil	UTSW	10	127011873	missense	probably damaging	1.00
R3694:Avil	UTSW	10	127008330	missense	probably damaging	0.98
R3948:Avil	UTSW	10	127014205	missense	probably benign	0.00
R4165:Avil	UTSW	10	127006627	nonsense	probably null
R4978:Avil	UTSW	10	127018396	missense	probably benign	0.09
R5159:Avil	UTSW	10	127020448	critical splice acceptor site	probably null
R5254:Avil	UTSW	10	127011761	missense	probably benign	0.01
R5618:Avil	UTSW	10	127010577	missense	possibly damaging	0.79
R5682:Avil	UTSW	10	127014104	missense	probably damaging	1.00
R5786:Avil	UTSW	10	127016499	critical splice donor site	probably null
R5819:Avil	UTSW	10	127009998	missense	probably damaging	1.00
R6149:Avil	UTSW	10	127006582	missense	probably benign	0.25
R6631:Avil	UTSW	10	127007749	missense	possibly damaging	0.52
R6665:Avil	UTSW	10	127020525	missense	probably damaging	1.00
R6745:Avil	UTSW	10	127014119	missense	probably benign	0.00
R6804:Avil	UTSW	10	127008306	nonsense	probably null
R6838:Avil	UTSW	10	127013562	missense	probably benign
R7481:Avil	UTSW	10	127007591	missense	probably benign	0.33
R8213:Avil	UTSW	10	127008321	missense	probably damaging	0.97
R8349:Avil	UTSW	10	127009992	missense	probably benign	0.00
R8449:Avil	UTSW	10	127009992	missense	probably benign	0.00
R8510:Avil	UTSW	10	127009781	missense	probably benign	0.03
R8849:Avil	UTSW	10	127008792	missense	possibly damaging	0.91
R8944:Avil	UTSW	10	127010586	missense	probably damaging	1.00
R9101:Avil	UTSW	10	127017004	missense	probably benign	0.06
R9176:Avil	UTSW	10	127016379	missense	probably damaging	1.00
R9733:Avil	UTSW	10	127007842	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTTTGTCAGGCATCCAGG -3'
(R):5'- AGTTCCTGCAGCATGTTGG -3'

Sequencing Primer
(F):5'- GGACCACCGTTCTGAAAGATGTTC -3'
(R):5'- GCAGCATGTTGGATCTGCTCC -3'

Posted On

2016-07-22