Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Avil'

294520

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Avil

Ensembl Gene

ENSMUSG00000025432

Gene Name

advillin

Synonyms

DOC6

Accession Numbers

Essential gene?

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

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

126836578-126856863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126852222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 669 (K669R)

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: K669R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
AA Change: K669R

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: K669R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432
AA Change: K669R

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

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
Adam25	A	T	8: 41,206,844 (GRCm39)	I37L	probably benign	Het
Alpk1	A	G	3: 127,474,968 (GRCm39)		probably null	Het
Ankrd33	T	C	15: 101,014,488 (GRCm39)	F8L	probably damaging	Het
Bcor	G	T	X: 11,914,749 (GRCm39)	L1165I	probably damaging	Het
C7	A	G	15: 5,088,871 (GRCm39)		probably benign	Het
Cc2d2a	A	G	5: 43,875,896 (GRCm39)	I958V	probably benign	Het
Cenpe	A	T	3: 134,935,869 (GRCm39)	K435*	probably null	Het
Chrna7	G	A	7: 62,755,842 (GRCm39)	L235F	probably damaging	Het
Col6a3	C	A	1: 90,706,919 (GRCm39)	V2065L	unknown	Het
Copb1	A	T	7: 113,846,020 (GRCm39)	N183K	probably benign	Het
Cpn2	G	A	16: 30,079,653 (GRCm39)	A16V	probably benign	Het
Cul1	A	G	6: 47,502,542 (GRCm39)	K769E	possibly damaging	Het
Deup1	C	T	9: 15,503,656 (GRCm39)	V302M	probably benign	Het
Dnah17	T	C	11: 117,927,176 (GRCm39)	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,004,431 (GRCm39)	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,657,487 (GRCm39)	L763*	probably null	Het
Donson	A	T	16: 91,478,064 (GRCm39)	W461R	probably damaging	Het
Dpp10	T	C	1: 123,269,418 (GRCm39)	I664V	probably benign	Het
Dusp8	T	A	7: 141,636,484 (GRCm39)	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422 (GRCm39)	L56Q	probably damaging	Het
Ecd	A	T	14: 20,374,545 (GRCm39)	S532T	probably benign	Het
Frg2f1	G	A	4: 119,388,154 (GRCm39)	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,335,735 (GRCm39)		probably benign	Het
Gtf3c2	T	A	5: 31,316,867 (GRCm39)		probably null	Het
Haghl	T	C	17: 26,002,470 (GRCm39)		probably benign	Het
Hoxc8	A	T	15: 102,901,181 (GRCm39)	N208I	probably damaging	Het
Igf2	T	C	7: 142,207,785 (GRCm39)	D115G	probably benign	Het
Jag2	T	A	12: 112,879,613 (GRCm39)	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,888 (GRCm39)	H54R	probably benign	Het
Lrp2	A	G	2: 69,352,117 (GRCm39)	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660 (GRCm39)	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,360,686 (GRCm39)	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,149,292 (GRCm39)	T168I	probably benign	Het
Mtg1	C	A	7: 139,730,085 (GRCm39)	Q294K	probably benign	Het
Myh3	C	T	11: 66,987,766 (GRCm39)	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,801,150 (GRCm39)		probably benign	Het
Ogfod3	T	C	11: 121,091,749 (GRCm39)	E119G	probably benign	Het
Or10ak9	A	G	4: 118,726,497 (GRCm39)	N173S	possibly damaging	Het
Or2t49	A	T	11: 58,393,073 (GRCm39)	M109K	probably benign	Het
Or4a77	A	G	2: 89,487,692 (GRCm39)	L31P	probably damaging	Het
Or5ak20	G	A	2: 85,184,006 (GRCm39)	T88I	probably benign	Het
Or6c210	A	T	10: 129,496,475 (GRCm39)	I267F	probably benign	Het
Parvb	G	T	15: 84,187,635 (GRCm39)	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 119,310,315 (GRCm39)	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,137,572 (GRCm39)	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,342,171 (GRCm39)	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,467,443 (GRCm39)	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,250,351 (GRCm39)	C131*	probably null	Het
Rigi	A	G	4: 40,229,536 (GRCm39)	S83P	probably damaging	Het
Rps6ka2	A	G	17: 7,556,402 (GRCm39)	D474G	probably benign	Het
Rsbn1l	T	C	5: 21,156,734 (GRCm39)	E17G	probably damaging	Het
Ryr2	T	C	13: 11,720,585 (GRCm39)	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,046,574 (GRCm39)		probably benign	Het
Smarcc1	A	G	9: 109,961,194 (GRCm39)		probably benign	Het
Soat2	T	C	15: 102,070,550 (GRCm39)	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,356,667 (GRCm39)		probably benign	Het
Tada1	C	T	1: 166,220,203 (GRCm39)	L308F	probably damaging	Het
Tango2	A	T	16: 18,128,731 (GRCm39)		probably null	Het
Tbc1d15	A	T	10: 115,065,111 (GRCm39)	V158D	probably damaging	Het
Tmx2	A	T	2: 84,503,588 (GRCm39)		probably benign	Het
Tpte	T	A	8: 22,795,874 (GRCm39)	I79K	probably benign	Het
Trav6-1	A	G	14: 52,876,199 (GRCm39)	I40V	probably benign	Het
Trgv3	A	G	13: 19,427,423 (GRCm39)	Y102C	probably damaging	Het
Ubash3a	T	C	17: 31,450,455 (GRCm39)	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,600,446 (GRCm39)	D575G	probably damaging	Het
Vps41	A	G	13: 19,037,649 (GRCm39)	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,638,259 (GRCm39)	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,317,264 (GRCm39)	V112A	probably 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
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
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

2015-04-16