Mutagenetix > Incidental Mutation

Incidental Mutation 'R2941:Avl9'

255174

Institutional Source

Beutler Lab

Gene Symbol

Avl9

Ensembl Gene

ENSMUSG00000029787

Gene Name

AVL9 cell migration associated

Synonyms

D730049P16Rik, 5830411G16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R2941 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56691884-56738897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56730870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 598 (V598A)

Ref Sequence

ENSEMBL: ENSMUSP00000031805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031805]

AlphaFold

Q80U56

Predicted Effect

probably benign
Transcript: ENSMUST00000031805
AA Change: V598A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: V598A

Domain	Start	End	E-Value	Type
Pfam:Afi1	15	102	3.8e-11	PFAM
Pfam:Avl9	16	521	7.1e-160	PFAM
Pfam:DUF2347	19	175	1.6e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176560

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	G	T	10: 42,354,291 (GRCm39)		probably null	Het
Ankrd60	A	G	2: 173,410,674 (GRCm39)	L282P	probably damaging	Het
Dgkb	T	A	12: 38,654,122 (GRCm39)	M747K	possibly damaging	Het
Elmo1	C	G	13: 20,784,382 (GRCm39)	Y646*	probably null	Het
Fgr	A	C	4: 132,725,734 (GRCm39)	Y381S	probably benign	Het
Ggnbp2	T	C	11: 84,732,407 (GRCm39)	I271V	probably damaging	Het
Itprid2	T	A	2: 79,466,000 (GRCm39)	D39E	probably benign	Het
Ltbp1	A	G	17: 75,486,088 (GRCm39)	T38A	probably damaging	Het
Or8b52	A	G	9: 38,576,322 (GRCm39)	S273P	probably damaging	Het
Setbp1	C	A	18: 78,901,412 (GRCm39)	V752L	probably damaging	Het
Slc8a3	C	A	12: 81,361,953 (GRCm39)	G289W	probably damaging	Het
Slu7	G	T	11: 43,335,584 (GRCm39)	R440L	probably benign	Het
Tacr1	T	A	6: 82,380,715 (GRCm39)	I42N	probably damaging	Het
Tspan32	G	A	7: 142,568,729 (GRCm39)	V103M	probably damaging	Het
Tyk2	A	G	9: 21,022,415 (GRCm39)	S805P	probably benign	Het

Other mutations in Avl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Avl9	APN	6	56,702,075 (GRCm39)	missense	probably damaging	1.00
IGL01433:Avl9	APN	6	56,730,382 (GRCm39)	missense	probably damaging	0.99
IGL02865:Avl9	APN	6	56,713,858 (GRCm39)	missense	probably damaging	1.00
IGL02932:Avl9	APN	6	56,713,536 (GRCm39)	missense	probably benign	0.00
Athens	UTSW	6	56,730,870 (GRCm39)	missense	probably benign	0.00
Atlanta	UTSW	6	56,730,375 (GRCm39)	missense	possibly damaging	0.54
H8562:Avl9	UTSW	6	56,734,295 (GRCm39)	missense	probably damaging	1.00
H8786:Avl9	UTSW	6	56,734,295 (GRCm39)	missense	probably damaging	1.00
R0003:Avl9	UTSW	6	56,713,468 (GRCm39)	missense	probably benign	0.00
R0029:Avl9	UTSW	6	56,713,468 (GRCm39)	missense	probably benign	0.00
R0102:Avl9	UTSW	6	56,713,468 (GRCm39)	missense	probably benign	0.00
R0103:Avl9	UTSW	6	56,713,468 (GRCm39)	missense	probably benign	0.00
R0122:Avl9	UTSW	6	56,713,468 (GRCm39)	missense	probably benign	0.00
R0147:Avl9	UTSW	6	56,713,487 (GRCm39)	missense	probably benign	0.00
R0372:Avl9	UTSW	6	56,703,309 (GRCm39)	critical splice donor site	probably null
R0446:Avl9	UTSW	6	56,713,468 (GRCm39)	missense	probably benign	0.00
R0600:Avl9	UTSW	6	56,713,891 (GRCm39)	missense	probably benign	0.03
R0667:Avl9	UTSW	6	56,713,468 (GRCm39)	missense	probably benign	0.00
R1560:Avl9	UTSW	6	56,702,113 (GRCm39)	nonsense	probably null
R1566:Avl9	UTSW	6	56,713,467 (GRCm39)	nonsense	probably null
R2069:Avl9	UTSW	6	56,713,420 (GRCm39)	splice site	probably benign
R2362:Avl9	UTSW	6	56,713,555 (GRCm39)	missense	probably benign	0.07
R2483:Avl9	UTSW	6	56,713,828 (GRCm39)	missense	probably benign
R3028:Avl9	UTSW	6	56,707,672 (GRCm39)	unclassified	probably benign
R3437:Avl9	UTSW	6	56,713,612 (GRCm39)	missense	probably benign
R3690:Avl9	UTSW	6	56,713,812 (GRCm39)	missense	probably benign
R3691:Avl9	UTSW	6	56,713,812 (GRCm39)	missense	probably benign
R3947:Avl9	UTSW	6	56,705,650 (GRCm39)	critical splice donor site	probably null
R3948:Avl9	UTSW	6	56,705,650 (GRCm39)	critical splice donor site	probably null
R3949:Avl9	UTSW	6	56,705,650 (GRCm39)	critical splice donor site	probably null
R3972:Avl9	UTSW	6	56,720,393 (GRCm39)	missense	probably damaging	1.00
R4734:Avl9	UTSW	6	56,713,479 (GRCm39)	missense	probably damaging	0.96
R4739:Avl9	UTSW	6	56,703,294 (GRCm39)	missense	probably damaging	1.00
R5661:Avl9	UTSW	6	56,702,087 (GRCm39)	nonsense	probably null
R5664:Avl9	UTSW	6	56,730,824 (GRCm39)	missense	probably damaging	1.00
R6010:Avl9	UTSW	6	56,730,375 (GRCm39)	missense	possibly damaging	0.54
R6615:Avl9	UTSW	6	56,730,870 (GRCm39)	missense	probably benign	0.00
R6719:Avl9	UTSW	6	56,730,370 (GRCm39)	missense	probably damaging	1.00
R7138:Avl9	UTSW	6	56,705,242 (GRCm39)	missense	probably damaging	1.00
R7947:Avl9	UTSW	6	56,700,526 (GRCm39)	missense	possibly damaging	0.72
R8030:Avl9	UTSW	6	56,718,407 (GRCm39)	missense	probably damaging	0.99
R8537:Avl9	UTSW	6	56,705,644 (GRCm39)	nonsense	probably null
R8683:Avl9	UTSW	6	56,730,378 (GRCm39)	missense	probably benign	0.14
R9098:Avl9	UTSW	6	56,707,628 (GRCm39)	missense	probably benign	0.01
R9213:Avl9	UTSW	6	56,720,441 (GRCm39)	missense	probably damaging	1.00
R9274:Avl9	UTSW	6	56,720,346 (GRCm39)	missense	probably damaging	0.99
R9452:Avl9	UTSW	6	56,706,726 (GRCm39)	missense	probably damaging	0.97
R9585:Avl9	UTSW	6	56,734,299 (GRCm39)	missense	probably damaging	0.97
R9628:Avl9	UTSW	6	56,713,460 (GRCm39)	nonsense	probably null
R9633:Avl9	UTSW	6	56,707,634 (GRCm39)	missense	probably damaging	1.00
R9747:Avl9	UTSW	6	56,730,825 (GRCm39)	missense	probably damaging	1.00
Z1176:Avl9	UTSW	6	56,713,749 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGATAACAGGACTTGCCATTC -3'
(R):5'- CTGTAGTGTCTCTAAAAGCCCC -3'

Sequencing Primer
(F):5'- CCTCTCAGAAATCATATCTGTCAAG -3'
(R):5'- AAAGCCCCCTTGTATTGTTATGTG -3'

Posted On

2014-12-29