Mutagenetix > Incidental Mutation

Incidental Mutation 'R0109:Avil'

17454

Institutional Source

Beutler Lab

Gene Symbol

Avil

Ensembl Gene

ENSMUSG00000025432

Gene Name

advillin

Synonyms

DOC6

MMRRC Submission

038395-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R0109 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

126836578-126856863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126849513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 603 (N603S)

Ref Sequence

ENSEMBL: ENSMUSP00000123405 (fasta)

Gene Model

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

AlphaFold

O88398

Predicted Effect

probably benign
Transcript: ENSMUST00000026500
AA Change: N603S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
AA Change: N603S

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: ENSMUST00000129173
AA Change: N603S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432
AA Change: N603S

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: 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

0.0619

Coding Region Coverage

1x: 90.6%
3x: 88.5%
10x: 83.8%
20x: 77.5%

Validation Efficiency

90% (95/106)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,636,262 (GRCm39)	H710Q	probably benign	Het
Abca14	A	T	7: 119,917,985 (GRCm39)	K1496*	probably null	Het
Anapc1	C	A	2: 128,476,613 (GRCm39)	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,305,605 (GRCm39)	S203T	probably benign	Het
Astn1	C	T	1: 158,491,674 (GRCm39)	T41I	possibly damaging	Het
Atrnl1	T	A	19: 57,743,949 (GRCm39)	Y1184N	possibly damaging	Het
Brca1	T	C	11: 101,421,916 (GRCm39)	D149G	possibly damaging	Het
Car14	C	A	3: 95,806,763 (GRCm39)	A234S	probably benign	Het
Cep164	A	C	9: 45,682,885 (GRCm39)	L935R	probably damaging	Het
Cps1	T	C	1: 67,268,577 (GRCm39)	V1435A	possibly damaging	Het
Csmd2	T	G	4: 128,438,536 (GRCm39)	S3038R	probably benign	Het
Cyp2j6	A	T	4: 96,406,394 (GRCm39)	I459N	probably damaging	Het
Cyth1	T	C	11: 118,073,132 (GRCm39)	E242G	probably damaging	Het
Dclk3	T	G	9: 111,296,738 (GRCm39)	L94R	possibly damaging	Het
Disp2	T	C	2: 118,622,297 (GRCm39)	S1010P	probably damaging	Het
Dlec1	G	A	9: 118,934,892 (GRCm39)	R145H	probably damaging	Het
Dsg3	T	C	18: 20,673,191 (GRCm39)	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487 (GRCm39)	D309V	probably damaging	Het
Fam13b	A	G	18: 34,584,361 (GRCm39)	I601T	probably benign	Het
Fgd5	T	A	6: 91,965,216 (GRCm39)	M325K	possibly damaging	Het
Frmpd1	A	T	4: 45,279,340 (GRCm39)	E688D	probably benign	Het
Gabrb1	C	T	5: 72,279,289 (GRCm39)		probably benign	Het
Gm6590	A	T	6: 130,461,869 (GRCm39)		noncoding transcript	Het
Gse1	T	A	8: 121,294,524 (GRCm39)	S284T	probably damaging	Het
Ipo13	C	T	4: 117,762,213 (GRCm39)	R387Q	possibly damaging	Het
Kctd16	A	G	18: 40,392,204 (GRCm39)	E264G	probably benign	Het
Krt73	A	T	15: 101,704,830 (GRCm39)	L352*	probably null	Het
Mapk15	A	T	15: 75,867,926 (GRCm39)	K153*	probably null	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mcoln2	C	G	3: 145,881,473 (GRCm39)	R210G	probably damaging	Het
Miox	G	A	15: 89,219,784 (GRCm39)	V91I	probably benign	Het
Myh7b	A	G	2: 155,453,594 (GRCm39)	E6G	possibly damaging	Het
Ncapg	A	G	5: 45,851,090 (GRCm39)		probably null	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Or4a69	A	G	2: 89,313,147 (GRCm39)	F111L	probably benign	Het
Or52d1	T	C	7: 103,755,812 (GRCm39)	S109P	probably damaging	Het
Or5b94	C	A	19: 12,652,224 (GRCm39)	F218L	probably benign	Het
Osbp2	A	C	11: 3,661,791 (GRCm39)	S754A	probably benign	Het
Pard3	C	T	8: 128,125,147 (GRCm39)	R712C	probably damaging	Het
Parp9	T	C	16: 35,768,711 (GRCm39)	I64T	probably damaging	Het
Pcm1	T	A	8: 41,710,974 (GRCm39)	H81Q	possibly damaging	Het
Pcnt	G	A	10: 76,225,030 (GRCm39)	P1825S	probably benign	Het
Pfkfb4	T	C	9: 108,827,957 (GRCm39)	V43A	probably benign	Het
Pgap1	A	T	1: 54,533,984 (GRCm39)	V643E	probably damaging	Het
Pip5k1a	T	C	3: 94,972,753 (GRCm39)	T433A	probably benign	Het
Pip5k1b	T	A	19: 24,356,411 (GRCm39)	M176L	probably benign	Het
Polg2	T	C	11: 106,667,958 (GRCm39)		probably benign	Het
Pomp	T	A	5: 147,812,323 (GRCm39)	H136Q	probably benign	Het
Ppfia4	A	T	1: 134,251,955 (GRCm39)		probably null	Het
Prdx2	G	A	8: 85,696,880 (GRCm39)	G4S	probably benign	Het
Rbm28	C	T	6: 29,160,104 (GRCm39)	G70D	probably benign	Het
Rdh10	T	A	1: 16,176,489 (GRCm39)	I83N	probably damaging	Het
Rin3	A	G	12: 102,279,340 (GRCm39)	I50V	possibly damaging	Het
Rnf122	T	C	8: 31,614,877 (GRCm39)		probably benign	Het
Sik2	A	G	9: 50,810,775 (GRCm39)	M447T	possibly damaging	Het
Sla2	A	G	2: 156,725,507 (GRCm39)		probably null	Het
Slc51a	T	A	16: 32,296,425 (GRCm39)	I192L	probably benign	Het
Sorcs1	T	C	19: 50,367,329 (GRCm39)		probably benign	Het
Spata16	T	A	3: 26,967,416 (GRCm39)	F389I	probably damaging	Het
Srebf1	G	A	11: 60,092,630 (GRCm39)	A793V	probably benign	Het
Tbc1d9b	T	C	11: 50,049,261 (GRCm39)	V736A	probably benign	Het
Tbx15	C	A	3: 99,259,182 (GRCm39)	T351N	possibly damaging	Het
Tep1	A	G	14: 51,089,373 (GRCm39)		probably null	Het
Tmed11	T	A	5: 108,925,278 (GRCm39)	D178V	probably damaging	Het
Traf7	A	G	17: 24,732,900 (GRCm39)	F110L	probably benign	Het
Ubqlnl	C	T	7: 103,799,399 (GRCm39)	V33M	probably damaging	Het
Vcan	A	T	13: 89,826,192 (GRCm39)		probably null	Het
Vmn1r194	A	G	13: 22,429,217 (GRCm39)	Y278C	probably damaging	Het
Vmn1r46	T	C	6: 89,954,044 (GRCm39)	F298L	probably benign	Het
Vps13b	A	G	15: 35,572,265 (GRCm39)	T961A	probably benign	Het
Wdr48	G	A	9: 119,747,634 (GRCm39)		probably benign	Het
Wwp1	G	A	4: 19,641,725 (GRCm39)		probably benign	Het
Zfp1001	A	T	2: 150,165,761 (GRCm39)		probably benign	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp839	G	A	12: 110,827,308 (GRCm39)	E400K	possibly damaging	Het

Other mutations in Avil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Avil	APN	10	126,852,903 (GRCm39)	critical splice donor site	probably null
IGL01893:Avil	APN	10	126,856,415 (GRCm39)	missense	possibly damaging	0.73
IGL02127:Avil	APN	10	126,847,695 (GRCm39)	missense	probably benign	0.13
IGL02425:Avil	APN	10	126,854,316 (GRCm39)	missense	probably benign
IGL02458:Avil	APN	10	126,852,222 (GRCm39)	missense	probably benign	0.00
IGL02707:Avil	APN	10	126,842,431 (GRCm39)	missense	probably damaging	1.00
IGL02805:Avil	APN	10	126,843,486 (GRCm39)	missense	possibly damaging	0.79
IGL02836:Avil	APN	10	126,844,864 (GRCm39)	missense	probably damaging	1.00
IGL02961:Avil	APN	10	126,844,175 (GRCm39)	missense	probably benign	0.00
IGL03025:Avil	APN	10	126,849,446 (GRCm39)	missense	probably benign	0.19
IGL03083:Avil	APN	10	126,852,193 (GRCm39)	missense	probably benign	0.31
IGL03345:Avil	APN	10	126,844,826 (GRCm39)	unclassified	probably benign
IGL03365:Avil	APN	10	126,846,852 (GRCm39)	missense	probably damaging	1.00
R0109:Avil	UTSW	10	126,849,513 (GRCm39)	missense	probably benign
R1159:Avil	UTSW	10	126,847,659 (GRCm39)	missense	possibly damaging	0.94
R1631:Avil	UTSW	10	126,846,494 (GRCm39)	splice site	probably null
R2026:Avil	UTSW	10	126,847,742 (GRCm39)	missense	probably damaging	1.00
R3694:Avil	UTSW	10	126,844,199 (GRCm39)	missense	probably damaging	0.98
R3948:Avil	UTSW	10	126,850,074 (GRCm39)	missense	probably benign	0.00
R4165:Avil	UTSW	10	126,842,496 (GRCm39)	nonsense	probably null
R4978:Avil	UTSW	10	126,854,265 (GRCm39)	missense	probably benign	0.09
R5159:Avil	UTSW	10	126,856,317 (GRCm39)	critical splice acceptor site	probably null
R5254:Avil	UTSW	10	126,847,630 (GRCm39)	missense	probably benign	0.01
R5285:Avil	UTSW	10	126,854,328 (GRCm39)	missense	probably damaging	0.97
R5618:Avil	UTSW	10	126,846,446 (GRCm39)	missense	possibly damaging	0.79
R5682:Avil	UTSW	10	126,849,973 (GRCm39)	missense	probably damaging	1.00
R5786:Avil	UTSW	10	126,852,368 (GRCm39)	critical splice donor site	probably null
R5819:Avil	UTSW	10	126,845,867 (GRCm39)	missense	probably damaging	1.00
R6149:Avil	UTSW	10	126,842,451 (GRCm39)	missense	probably benign	0.25
R6631:Avil	UTSW	10	126,843,618 (GRCm39)	missense	possibly damaging	0.52
R6665:Avil	UTSW	10	126,856,394 (GRCm39)	missense	probably damaging	1.00
R6745:Avil	UTSW	10	126,849,988 (GRCm39)	missense	probably benign	0.00
R6804:Avil	UTSW	10	126,844,175 (GRCm39)	nonsense	probably null
R6838:Avil	UTSW	10	126,849,431 (GRCm39)	missense	probably benign
R7481:Avil	UTSW	10	126,843,460 (GRCm39)	missense	probably benign	0.33
R8213:Avil	UTSW	10	126,844,190 (GRCm39)	missense	probably damaging	0.97
R8349:Avil	UTSW	10	126,845,861 (GRCm39)	missense	probably benign	0.00
R8449:Avil	UTSW	10	126,845,861 (GRCm39)	missense	probably benign	0.00
R8510:Avil	UTSW	10	126,845,650 (GRCm39)	missense	probably benign	0.03
R8849:Avil	UTSW	10	126,844,661 (GRCm39)	missense	possibly damaging	0.91
R8944:Avil	UTSW	10	126,846,455 (GRCm39)	missense	probably damaging	1.00
R9101:Avil	UTSW	10	126,852,873 (GRCm39)	missense	probably benign	0.06
R9176:Avil	UTSW	10	126,852,248 (GRCm39)	missense	probably damaging	1.00
R9733:Avil	UTSW	10	126,843,711 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-01-31