Mutagenetix > Incidental Mutation

Incidental Mutation 'R2026:Avil'

220654

Institutional Source

Beutler Lab

Gene Symbol

Avil

Ensembl Gene

ENSMUSG00000025432

Gene Name

advillin

Synonyms

DOC6

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R2026 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126836578-126856863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126847742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 556 (G556S)

Ref Sequence

ENSEMBL: ENSMUSP00000123405 (fasta)

Gene Model

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

AlphaFold

O88398

Predicted Effect

probably damaging
Transcript: ENSMUST00000026500
AA Change: G556S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
AA Change: G556S

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 damaging
Transcript: ENSMUST00000129173
AA Change: G556S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432
AA Change: G556S

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,880,205 (GRCm39)	K269R	probably benign	Het
Abcc12	A	G	8: 87,284,862 (GRCm39)	V251A	probably benign	Het
C3	T	C	17: 57,525,562 (GRCm39)	Y898C	probably damaging	Het
Cacng2	A	G	15: 77,879,720 (GRCm39)	F201L	possibly damaging	Het
Casp7	T	A	19: 56,424,830 (GRCm39)	I183N	probably damaging	Het
Cntn3	A	T	6: 102,397,388 (GRCm39)	W62R	probably damaging	Het
Ctrb1	T	C	8: 112,415,317 (GRCm39)	N119S	probably benign	Het
Cyp3a59	G	A	5: 146,033,098 (GRCm39)	V157M	probably damaging	Het
Dhfr	G	T	13: 92,502,279 (GRCm39)	G117*	probably null	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dlg2	C	A	7: 91,614,931 (GRCm39)	P290Q	probably damaging	Het
Dnah3	T	A	7: 119,638,629 (GRCm39)	Q1240L	probably damaging	Het
Exd1	A	T	2: 119,350,786 (GRCm39)	S492T	probably benign	Het
Fermt1	T	C	2: 132,760,445 (GRCm39)	I415M	probably benign	Het
Fsip2	A	G	2: 82,819,788 (GRCm39)	T5174A	possibly damaging	Het
Fuca2	T	G	10: 13,388,391 (GRCm39)	V389G	probably damaging	Het
Gm14412	A	T	2: 177,008,898 (GRCm39)	H50Q	possibly damaging	Het
Gm5129	G	A	5: 29,940,732 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,778,322 (GRCm39)	R437G	possibly damaging	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Hs1bp3	A	G	12: 8,387,738 (GRCm39)	E301G	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ice2	T	C	9: 69,323,607 (GRCm39)	S701P	probably benign	Het
Igf2bp1	A	G	11: 95,864,996 (GRCm39)	V151A	possibly damaging	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Man2b1	G	C	8: 85,821,964 (GRCm39)	W726C	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msh6	C	T	17: 88,297,771 (GRCm39)	H1264Y	probably damaging	Het
Ncoa1	A	T	12: 4,317,647 (GRCm39)	S1228R	probably benign	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nutm2	A	G	13: 50,628,856 (GRCm39)	H640R	probably benign	Het
Or11i1	T	C	3: 106,729,027 (GRCm39)	I283V	probably benign	Het
Or2t1	T	C	14: 14,328,891 (GRCm38)	V260A	probably benign	Het
Or51ac3	T	A	7: 103,214,084 (GRCm39)	Y134F	probably damaging	Het
Or5b123	T	A	19: 13,596,945 (GRCm39)	C140S	probably damaging	Het
Or5w1b	G	T	2: 87,475,753 (GRCm39)	A238E	probably damaging	Het
Or6c211	T	A	10: 129,506,334 (GRCm39)	D18V	probably damaging	Het
Pde1c	C	T	6: 56,157,175 (GRCm39)	V162I	probably damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pfas	C	T	11: 68,884,783 (GRCm39)	G473E	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Polq	A	G	16: 36,883,107 (GRCm39)	D1757G	possibly damaging	Het
Popdc3	T	C	10: 45,190,951 (GRCm39)	W21R	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rfc1	G	T	5: 65,445,372 (GRCm39)	T412K	probably damaging	Het
Sap130	T	C	18: 31,831,627 (GRCm39)	S706P	possibly damaging	Het
Scgn	T	C	13: 24,175,047 (GRCm39)		probably benign	Het
Smad7	T	C	18: 75,527,225 (GRCm39)	V357A	probably damaging	Het
Snrnp48	G	T	13: 38,393,862 (GRCm39)	A56S	possibly damaging	Het
Sptbn1	G	T	11: 30,054,559 (GRCm39)	A2178E	probably benign	Het
Syn2	C	T	6: 115,255,212 (GRCm39)	T508I	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Trpm7	T	C	2: 126,654,658 (GRCm39)	K1427E	probably benign	Het
Trrap	A	G	5: 144,739,854 (GRCm39)	I1118V	possibly damaging	Het
Tslp	A	T	18: 32,948,725 (GRCm39)	I37L	probably benign	Het
Ttll3	G	A	6: 113,375,731 (GRCm39)	V297M	probably damaging	Het
Ttn	T	C	2: 76,540,713 (GRCm39)	D34091G	possibly damaging	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,953,474 (GRCm39)	F803L	probably damaging	Het
Ubn1	A	G	16: 4,882,514 (GRCm39)	E325G	probably damaging	Het
Wfikkn2	A	G	11: 94,129,779 (GRCm39)	W121R	possibly damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het
Zfp616	A	T	11: 73,974,413 (GRCm39)	L227F	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCACTCTGAAGGTCTGAACTC -3'
(R):5'- AGTGCATATGTGAGTGTACCTACG -3'

Sequencing Primer
(F):5'- AAGGTCTGAACTCTGCTTTTCAG -3'
(R):5'- ACCTACGTGTGTGTGTGCTC -3'

Posted On

2014-08-25