Mutagenetix > Incidental Mutation

Incidental Mutation 'R8537:Avl9'

659282

Institutional Source

Beutler Lab

Gene Symbol

Avl9

Ensembl Gene

ENSMUSG00000029787

Gene Name

AVL9 cell migration associated

Synonyms

D730049P16Rik, 5830411G16Rik

MMRRC Submission

067891-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R8537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56714899-56761912 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 56728659 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 175 (Y175*)

Ref Sequence

ENSEMBL: ENSMUSP00000144696 (fasta)

Gene Model

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

AlphaFold

Q80U56

Predicted Effect

probably null
Transcript: ENSMUST00000031805
AA Change: Y175*

SMART Domains

Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: Y175*

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

probably null
Transcript: ENSMUST00000177249
AA Change: Y175*

SMART Domains

Protein: ENSMUSP00000144696
Gene: ENSMUSG00000029787
AA Change: Y175*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,190,550	E579V	probably damaging	Het
Adgrv1	T	A	13: 81,536,372	D1790V	probably damaging	Het
Bmp2	A	T	2: 133,561,282	D251V	probably damaging	Het
Camsap2	T	A	1: 136,277,205	K1191N	probably damaging	Het
Ccdc102a	A	C	8: 94,906,056	F431C	probably benign	Het
Ccdc186	T	C	19: 56,810,245	I270M	probably damaging	Het
Copb2	A	G	9: 98,587,619	Q851R	probably null	Het
Cyp11b2	C	T	15: 74,856,167	R22K	probably benign	Het
Ddx50	A	G	10: 62,642,849	F186S	probably damaging	Het
Dhx38	T	C	8: 109,553,380	Y926C	probably damaging	Het
Dmrt2	T	C	19: 25,673,936	M162T	possibly damaging	Het
Dnah10	G	T	5: 124,816,100	G3309V	probably damaging	Het
Dnajb2	T	C	1: 75,239,598	F107S	probably damaging	Het
Dock8	T	A	19: 25,130,506	S867T	probably benign	Het
Eif2ak1	C	A	5: 143,899,069	T526K	probably damaging	Het
Gm30302	A	G	13: 49,786,632	V534A	possibly damaging	Het
Gnas	T	C	2: 174,298,601	S188P	possibly damaging	Het
Gpam	T	C	19: 55,096,239	D36G	probably benign	Het
Gucy2e	C	A	11: 69,236,353	R98L	probably benign	Het
Hmcn2	C	A	2: 31,391,076	L1867I	probably benign	Het
Hnrnpu	T	C	1: 178,333,634		probably benign	Het
Icos	A	G	1: 60,993,942	D100G	probably damaging	Het
Ifi203	A	T	1: 173,928,906		probably benign	Het
Ift46	T	A	9: 44,783,983	L92Q	probably damaging	Het
Kcnip2	C	T	19: 45,815,730		probably null	Het
Lgr5	T	C	10: 115,452,402	Y779C	probably damaging	Het
Ltk	G	T	2: 119,758,107	P287Q	probably benign	Het
Mapk8ip3	A	T	17: 24,901,678	C852*	probably null	Het
Mmp27	A	G	9: 7,579,775	M443V	probably benign	Het
Muc6	T	C	7: 141,647,917	D769G	probably benign	Het
Myo7b	T	C	18: 31,977,089	I1107V	probably benign	Het
Nebl	T	A	2: 17,350,709	H211L	probably benign	Het
Oaz3	T	A	3: 94,436,435	K40N	probably damaging	Het
Olfr1111	T	A	2: 87,150,038	T208S	probably benign	Het
Olfr860	T	A	9: 19,846,552	E22D	probably damaging	Het
Osbpl10	G	T	9: 115,229,909	A718S	probably benign	Het
Ppp3ca	T	A	3: 136,797,858	I64K	possibly damaging	Het
Prlr	T	C	15: 10,314,180		probably benign	Het
Rab3ip	A	G	10: 116,910,154	I424T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914		probably benign	Het
Sec62	G	T	3: 30,818,812	R348L	unknown	Het
Sema5b	C	T	16: 35,651,609	A479V	possibly damaging	Het
Shank3	T	C	15: 89,532,215	I222T	probably damaging	Het
Sp1	C	T	15: 102,408,529	T154I	possibly damaging	Het
Srek1	A	G	13: 103,752,449		probably benign	Het
Tmem129	A	G	5: 33,655,576	S143P	possibly damaging	Het
Tmem202	A	T	9: 59,519,646	C194S	probably benign	Het
Tmprss15	A	T	16: 79,087,515	I93K	probably damaging	Het
Ttn	A	G	2: 76,776,309	Y16340H	probably damaging	Het
Uck1	C	A	2: 32,260,141		probably benign	Het

Other mutations in Avl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Avl9	APN	6	56725090	missense	probably damaging	1.00
IGL01433:Avl9	APN	6	56753397	missense	probably damaging	0.99
IGL02865:Avl9	APN	6	56736873	missense	probably damaging	1.00
IGL02932:Avl9	APN	6	56736551	missense	probably benign	0.00
Athens	UTSW	6	56753885	missense	probably benign	0.00
Atlanta	UTSW	6	56753390	missense	possibly damaging	0.54
H8562:Avl9	UTSW	6	56757310	missense	probably damaging	1.00
H8786:Avl9	UTSW	6	56757310	missense	probably damaging	1.00
R0003:Avl9	UTSW	6	56736483	missense	probably benign	0.00
R0029:Avl9	UTSW	6	56736483	missense	probably benign	0.00
R0102:Avl9	UTSW	6	56736483	missense	probably benign	0.00
R0103:Avl9	UTSW	6	56736483	missense	probably benign	0.00
R0122:Avl9	UTSW	6	56736483	missense	probably benign	0.00
R0147:Avl9	UTSW	6	56736502	missense	probably benign	0.00
R0372:Avl9	UTSW	6	56726324	critical splice donor site	probably null
R0446:Avl9	UTSW	6	56736483	missense	probably benign	0.00
R0600:Avl9	UTSW	6	56736906	missense	probably benign	0.03
R0667:Avl9	UTSW	6	56736483	missense	probably benign	0.00
R1560:Avl9	UTSW	6	56725128	nonsense	probably null
R1566:Avl9	UTSW	6	56736482	nonsense	probably null
R2069:Avl9	UTSW	6	56736435	splice site	probably benign
R2362:Avl9	UTSW	6	56736570	missense	probably benign	0.07
R2483:Avl9	UTSW	6	56736843	missense	probably benign
R2941:Avl9	UTSW	6	56753885	missense	probably benign	0.00
R3028:Avl9	UTSW	6	56730687	unclassified	probably benign
R3437:Avl9	UTSW	6	56736627	missense	probably benign
R3690:Avl9	UTSW	6	56736827	missense	probably benign
R3691:Avl9	UTSW	6	56736827	missense	probably benign
R3947:Avl9	UTSW	6	56728665	critical splice donor site	probably null
R3948:Avl9	UTSW	6	56728665	critical splice donor site	probably null
R3949:Avl9	UTSW	6	56728665	critical splice donor site	probably null
R3972:Avl9	UTSW	6	56743408	missense	probably damaging	1.00
R4734:Avl9	UTSW	6	56736494	missense	probably damaging	0.96
R4739:Avl9	UTSW	6	56726309	missense	probably damaging	1.00
R5661:Avl9	UTSW	6	56725102	nonsense	probably null
R5664:Avl9	UTSW	6	56753839	missense	probably damaging	1.00
R6010:Avl9	UTSW	6	56753390	missense	possibly damaging	0.54
R6615:Avl9	UTSW	6	56753885	missense	probably benign	0.00
R6719:Avl9	UTSW	6	56753385	missense	probably damaging	1.00
R7138:Avl9	UTSW	6	56728257	missense	probably damaging	1.00
R7947:Avl9	UTSW	6	56723541	missense	possibly damaging	0.72
R8030:Avl9	UTSW	6	56741422	missense	probably damaging	0.99
R8683:Avl9	UTSW	6	56753393	missense	probably benign	0.14
R9098:Avl9	UTSW	6	56730643	missense	probably benign	0.01
R9213:Avl9	UTSW	6	56743456	missense	probably damaging	1.00
R9274:Avl9	UTSW	6	56743361	missense	probably damaging	0.99
R9452:Avl9	UTSW	6	56729741	missense	probably damaging	0.97
R9585:Avl9	UTSW	6	56757314	missense	probably damaging	0.97
R9628:Avl9	UTSW	6	56736475	nonsense	probably null
R9633:Avl9	UTSW	6	56730649	missense	probably damaging	1.00
R9747:Avl9	UTSW	6	56753840	missense	probably damaging	1.00
Z1176:Avl9	UTSW	6	56736764	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGTCCATTTGCTCGGGC -3'
(R):5'- GCCTCTGCAATACATGTGAATATCATC -3'

Sequencing Primer
(F):5'- TCTTACAGAGGGCCCAAGCTTG -3'
(R):5'- ATGCTGAGTATTTAAGGAAGAAGC -3'

Posted On

2021-01-18