Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02865:Avl9'

362312

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Avl9

Ensembl Gene

ENSMUSG00000029787

Gene Name

AVL9 cell migration associated

Synonyms

D730049P16Rik, 5830411G16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL02865

Quality Score

Status

Chromosome

Chromosomal Location

56691884-56738897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 56713858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 372 (T372N)

Ref Sequence

ENSEMBL: ENSMUSP00000031805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031805] [ENSMUST00000177249]

AlphaFold

Q80U56

Predicted Effect

probably damaging
Transcript: ENSMUST00000031805
AA Change: T372N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: T372N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177249

SMART Domains

Protein: ENSMUSP00000144696
Gene: ENSMUSG00000029787

Domain	Start	End	E-Value	Type
Pfam:Afi1	15	111	2e-8	PFAM
Pfam:Avl9	16	209	3.9e-86	PFAM
Pfam:DUF2347	19	179	3.9e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccni	C	T	5: 93,331,195 (GRCm39)	V135I	probably benign	Het
Cfap20dc	T	C	14: 8,517,940 (GRCm38)	E293G	probably benign	Het
Dnah17	A	G	11: 117,964,374 (GRCm39)	F2481S	probably damaging	Het
Dnajc10	A	G	2: 80,161,647 (GRCm39)	D295G	probably benign	Het
Homer2	A	G	7: 81,260,080 (GRCm39)	F265S	probably damaging	Het
Hsp90aa1	A	G	12: 110,659,516 (GRCm39)	V476A	probably benign	Het
Jarid2	T	C	13: 45,064,036 (GRCm39)	L855P	probably damaging	Het
Kif26a	T	A	12: 112,144,049 (GRCm39)	C1434*	probably null	Het
Lpo	A	G	11: 87,697,803 (GRCm39)	V668A	possibly damaging	Het
Med12l	T	C	3: 59,201,713 (GRCm39)	Y1973H	probably damaging	Het
Mep1b	C	A	18: 21,226,441 (GRCm39)	H434Q	probably benign	Het
Ngly1	T	A	14: 16,290,939 (GRCm38)		probably benign	Het
Ptprn	A	T	1: 75,239,007 (GRCm39)	F9L	probably damaging	Het
Sema6d	T	A	2: 124,505,993 (GRCm39)	N600K	probably damaging	Het
Slc1a1	C	A	19: 28,882,738 (GRCm39)	A334E	probably damaging	Het
Son	A	G	16: 91,448,640 (GRCm39)	E67G	probably damaging	Het
Tpmt	T	C	13: 47,178,878 (GRCm39)	Y229C	probably benign	Het
Vmn2r23	A	T	6: 123,718,578 (GRCm39)	I644F	probably damaging	Het
Whrn	T	C	4: 63,333,729 (GRCm39)	M906V	probably benign	Het
Zfp938	A	T	10: 82,062,026 (GRCm39)	F198Y	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
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
R2941:Avl9	UTSW	6	56,730,870 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-12-18