Mutagenetix > Incidental Mutation

Incidental Mutation 'R3028:Avl9'

265879

Institutional Source

Beutler Lab

Gene Symbol

Avl9

Ensembl Gene

ENSMUSG00000029787

Gene Name

AVL9 cell migration associated

Synonyms

D730049P16Rik, 5830411G16Rik

MMRRC Submission

040544-MU

Accession Numbers

Essential gene?

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

Stock #

R3028 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

56691884-56738897 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 56707672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031805] [ENSMUST00000177249] [ENSMUST00000204193]

AlphaFold

Q80U56

Predicted Effect

probably benign
Transcript: ENSMUST00000031805

SMART Domains

Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787

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

unknown
Transcript: ENSMUST00000177249
AA Change: Y206N

SMART Domains

Protein: ENSMUSP00000144696
Gene: ENSMUSG00000029787
AA Change: Y206N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204193

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt2	T	G	8: 18,753,560 (GRCm39)	K289Q	probably benign	Het
Crybg2	A	G	4: 133,801,095 (GRCm39)	K752E	probably benign	Het
Cyp4a10	T	C	4: 115,375,628 (GRCm39)	F37S	possibly damaging	Het
Gtpbp1	C	T	15: 79,600,080 (GRCm39)	T369I	possibly damaging	Het
Hcrtr1	C	A	4: 130,029,604 (GRCm39)	R159L	probably benign	Het
Hipk3	T	C	2: 104,264,135 (GRCm39)	I809V	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhdc4	C	T	8: 122,526,288 (GRCm39)	V284M	probably damaging	Het
N6amt1	C	G	16: 87,159,536 (GRCm39)	H147Q	probably benign	Het
Pdgfra	A	T	5: 75,335,642 (GRCm39)	H425L	probably damaging	Het
Phlpp2	C	T	8: 110,634,245 (GRCm39)	A240V	probably damaging	Het
Ppib	A	T	9: 65,973,589 (GRCm39)	K181*	probably null	Het
Rab11fip3	A	G	17: 26,234,916 (GRCm39)		probably null	Het
Sftpc	A	T	14: 70,758,865 (GRCm39)	H161Q	probably benign	Het
Sigirr	A	G	7: 140,672,192 (GRCm39)	L251P	probably damaging	Het
Skint6	A	T	4: 113,093,690 (GRCm39)	M151K	possibly damaging	Het
Spc24	AGAGGTAGTCACTGA	AGA	9: 21,667,511 (GRCm39)		probably null	Het
Speer3	T	A	5: 13,845,445 (GRCm39)	N159K	probably damaging	Het
Spire1	A	C	18: 67,624,417 (GRCm39)	S581A	probably damaging	Het
Susd6	C	T	12: 80,921,234 (GRCm39)	T277I	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	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
R2941:Avl9	UTSW	6	56,730,870 (GRCm39)	missense	probably benign	0.00
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'- TCAGAGTTTCTCGTTTCTTAAGTCG -3'
(R):5'- TCAACCCTGAAGTCTCAGTGAAC -3'

Sequencing Primer
(F):5'- AGATCTGAGTTCTTGTTTTAAG -3'
(R):5'- AGTCTCAGTGAACAAACATATTTCC -3'

Posted On

2015-02-05