Mutagenetix > Incidental Mutation

Incidental Mutation 'R6838:Avil'

537971

Institutional Source

Beutler Lab

Gene Symbol

Avil

Ensembl Gene

ENSMUSG00000025432

Gene Name

advillin

Synonyms

DOC6

MMRRC Submission

044946-MU

Accession Numbers

Essential gene?

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

Stock #

R6838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126836578-126856863 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126849431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 576 (D576N)

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: D576N

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

SMART Domains

Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
AA Change: D576N

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: D576N

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

SMART Domains

Protein: ENSMUSP00000123405
Gene: ENSMUSG00000025432
AA Change: D576N

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

97% (64/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Aqp9	T	A	9: 71,019,498 (GRCm39)	M321L	probably benign	Het
Bbs1	C	T	19: 4,953,880 (GRCm39)	M94I	possibly damaging	Het
Bms1	A	G	6: 118,393,455 (GRCm39)	V139A	probably benign	Het
Bscl2	A	T	19: 8,818,745 (GRCm39)	M57L	probably damaging	Het
C2cd5	A	G	6: 142,975,364 (GRCm39)	I794T	possibly damaging	Het
Cacna1s	C	T	1: 136,012,175 (GRCm39)	T539I	possibly damaging	Het
Cand1	T	C	10: 119,045,935 (GRCm39)	K990R	probably benign	Het
Capn7	A	G	14: 31,076,130 (GRCm39)	I311V	possibly damaging	Het
Cd180	A	G	13: 102,839,239 (GRCm39)	N41D	probably benign	Het
Cdin1	T	C	2: 115,607,471 (GRCm39)	F275L	possibly damaging	Het
Celsr1	G	A	15: 85,823,395 (GRCm39)	T1671I	probably benign	Het
Cep135	A	T	5: 76,780,062 (GRCm39)	Q798L	probably damaging	Het
Cfap65	T	C	1: 74,971,180 (GRCm39)	D46G	probably benign	Het
Cracd	A	T	5: 77,006,056 (GRCm39)	T806S	unknown	Het
Ddx46	G	T	13: 55,787,748 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,230,948 (GRCm39)	L1402P	probably damaging	Het
Dnah8	A	G	17: 30,929,525 (GRCm39)	E1402G	probably damaging	Het
Dock9	A	G	14: 121,784,008 (GRCm39)	Y1989H	possibly damaging	Het
Ereg	A	G	5: 91,236,323 (GRCm39)	D50G	probably benign	Het
Evi5	G	T	5: 107,990,027 (GRCm39)	T64K	possibly damaging	Het
Frem3	A	C	8: 81,338,660 (GRCm39)	T318P	probably damaging	Het
Gpx1	A	G	9: 108,217,139 (GRCm39)	D81G	possibly damaging	Het
Gramd1a	T	C	7: 30,833,929 (GRCm39)	I499V	probably benign	Het
H4c12	A	T	13: 21,934,375 (GRCm39)	F101I	probably damaging	Het
Herc2	T	A	7: 55,758,526 (GRCm39)	D804E	probably damaging	Het
Hk1	T	C	10: 62,107,437 (GRCm39)	E846G	probably damaging	Het
Iars2	G	A	1: 185,061,342 (GRCm39)	A48V	probably damaging	Het
Invs	C	T	4: 48,283,278 (GRCm39)	T10M	possibly damaging	Het
Ism2	A	T	12: 87,326,975 (GRCm39)	D321E	probably benign	Het
Itpr1	T	C	6: 108,448,152 (GRCm39)	S231P	possibly damaging	Het
Kif17	A	T	4: 138,005,710 (GRCm39)		probably null	Het
Lvrn	A	G	18: 47,023,947 (GRCm39)	I765V	possibly damaging	Het
Map4k4	T	A	1: 40,015,882 (GRCm39)	C108S	probably damaging	Het
Mapk13	G	T	17: 28,996,535 (GRCm39)		probably null	Het
Mapkapk2	T	A	1: 130,985,740 (GRCm39)	K95*	probably null	Het
Mau2	A	T	8: 70,491,947 (GRCm39)		probably null	Het
Mex3a	A	G	3: 88,444,084 (GRCm39)	T387A	probably benign	Het
Myo5a	T	C	9: 75,061,165 (GRCm39)		probably null	Het
Ncbp3	A	T	11: 72,964,300 (GRCm39)	M417L	possibly damaging	Het
Nod2	A	C	8: 89,397,086 (GRCm39)	E810A	possibly damaging	Het
Nol3	A	T	8: 106,006,207 (GRCm39)	E152V	probably damaging	Het
Obox6	T	C	7: 15,567,664 (GRCm39)	E261G	possibly damaging	Het
Or2h1	A	T	17: 37,404,058 (GRCm39)	L236*	probably null	Het
Or8b12b	A	C	9: 37,684,348 (GRCm39)	Y131S	possibly damaging	Het
P3h2	T	C	16: 25,924,034 (GRCm39)	S134G	possibly damaging	Het
Plxna2	A	T	1: 194,487,222 (GRCm39)	R1592S	possibly damaging	Het
Ppp1r12a	C	T	10: 108,097,137 (GRCm39)	S250L	possibly damaging	Het
Rab38	A	G	7: 88,099,917 (GRCm39)	D144G	possibly damaging	Het
Septin1	T	C	7: 126,815,894 (GRCm39)	M176V	probably benign	Het
Spata22	C	T	11: 73,236,759 (GRCm39)	T355M	probably benign	Het
Tango6	A	G	8: 107,468,706 (GRCm39)	N734S	probably benign	Het
Tbc1d17	C	A	7: 44,493,738 (GRCm39)	R295L	probably damaging	Het
Thsd7a	G	T	6: 12,504,074 (GRCm39)	P360Q	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnnt1	T	C	7: 4,510,406 (GRCm39)	N239S	possibly damaging	Het
Tpst1	A	T	5: 130,131,279 (GRCm39)	M250L	probably benign	Het
Urb1	T	A	16: 90,578,994 (GRCm39)	D689V	possibly damaging	Het
Usp28	T	A	9: 48,911,730 (GRCm39)		probably null	Het
Vldlr	G	A	19: 27,225,370 (GRCm39)	D816N	probably damaging	Het
Vmn1r257	T	A	7: 22,391,142 (GRCm39)	M201L	probably benign	Het
Wdr1	A	G	5: 38,687,374 (GRCm39)	V219A	probably damaging	Het
Xndc1	T	C	7: 101,722,476 (GRCm39)	V47A	possibly damaging	Het
Zfp366	C	T	13: 99,365,015 (GRCm39)	P59S	possibly damaging	Het
Zfp366	A	G	13: 99,382,685 (GRCm39)	E616G	possibly damaging	Het
Zfp937	T	A	2: 150,081,266 (GRCm39)	I432K	probably benign	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
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
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'- ACTGTGGGTTTCAGAGCAGG -3'
(R):5'- GAATGTTTAAAGCTGTGAGGGAATC -3'

Sequencing Primer
(F):5'- TCAGAGCAGGCCTGTCCTTTG -3'
(R):5'- ATCTCAGGATTTGTAGGGACCAC -3'

Posted On

2018-10-18