Mutagenetix > Incidental Mutation

Incidental Mutation 'R6615:Avl9'

523925

Institutional Source

Beutler Lab

Gene Symbol

Avl9

Ensembl Gene

ENSMUSG00000029787

Gene Name

AVL9 cell migration associated

Synonyms

D730049P16Rik, 5830411G16Rik

MMRRC Submission

044738-MU

Accession Numbers

Essential gene?

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

Stock #

R6615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56714899-56761912 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56753885 bp (GRCm38)

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	T	A	13: 105,112,485	N402K	probably damaging	Het
Bcar3	T	A	3: 122,426,633	S60T	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Homo
Calm3	A	G	7: 16,917,583		probably null	Het
Ccdc113	A	C	8: 95,545,992	E242D	probably benign	Het
Celsr1	C	T	15: 85,902,114		probably null	Het
Clhc1	T	A	11: 29,578,149	M559K	possibly damaging	Het
Dhx36	T	A	3: 62,488,917	I440L	probably benign	Het
Dnah7c	A	T	1: 46,515,439	T445S	probably benign	Het
Dnah7c	C	A	1: 46,649,340	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,649,351	S1894G	probably benign	Het
Dsc2	T	A	18: 20,032,519	H843L	possibly damaging	Het
F11	T	C	8: 45,248,774	Y333C	probably benign	Het
Fbxo41	T	C	6: 85,478,523	T560A	possibly damaging	Het
Fbxo7	A	T	10: 86,044,534	H282L	possibly damaging	Het
Gmnc	T	G	16: 26,960,528	D243A	probably benign	Het
Hdac5	C	A	11: 102,197,056		probably null	Het
Krt87	A	G	15: 101,436,562	V188A	probably benign	Het
Lpxn	G	A	19: 12,824,799	V163M	probably benign	Het
Lrrk1	A	T	7: 66,281,648	L55Q	probably damaging	Het
Ltbp2	C	T	12: 84,813,317	C621Y	probably damaging	Het
March8	A	G	6: 116,405,663	E147G	probably damaging	Het
Muc16	T	G	9: 18,647,188	H2603P	unknown	Het
Nipa1	T	A	7: 55,979,823	N181Y	probably damaging	Het
Olfr1281	A	G	2: 111,329,112	D231G	probably benign	Het
Olfr297	A	G	7: 86,526,912	T52A	probably benign	Het
Olfr562-ps1	T	C	7: 102,781,787	F104L	probably damaging	Het
Olfr855	A	G	9: 19,584,989	I151V	probably benign	Het
Olfr92	G	A	17: 37,111,602	P127S	probably damaging	Het
Pcf11	T	A	7: 92,657,882	Q1026L	probably damaging	Het
Ptch1	T	G	13: 63,539,830	K378T	possibly damaging	Het
Ptprm	C	T	17: 67,353,956		probably null	Het
Pxmp2	C	A	5: 110,277,707	W154L	possibly damaging	Het
Rdh7	T	G	10: 127,884,622	S294R	probably damaging	Het
Rexo1	C	T	10: 80,544,014	R994Q	possibly damaging	Het
Sacs	A	G	14: 61,208,934	T2810A	probably benign	Het
Serpina3c	A	T	12: 104,151,721	H119Q	possibly damaging	Het
Slc12a2	T	G	18: 57,898,128	I335R	probably damaging	Het
Slc25a13	C	T	6: 6,073,454	R468Q	probably damaging	Het
Slc5a6	C	T	5: 31,036,830	V628I	probably benign	Het
Srsf2	T	C	11: 116,853,079		probably null	Het
Sugp2	A	G	8: 70,242,770	Q131R	possibly damaging	Het
Syne1	T	C	10: 5,301,340	R2525G	probably damaging	Het
Tarsl2	T	C	7: 65,678,142	F533S	probably damaging	Het
Tmem8b	G	T	4: 43,682,249	G82W	probably damaging	Het
Unc13c	A	G	9: 73,930,608	I987T	possibly damaging	Het
Usp44	T	C	10: 93,846,489	V267A	possibly damaging	Het
Wac	C	A	18: 7,868,884		probably null	Het
Xkr5	T	C	8: 18,933,553	I658V	probably benign	Het
Zbtb38	A	T	9: 96,686,654	Y792*	probably null	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
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
R8537:Avl9	UTSW	6	56728659	nonsense	probably null
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'- TGAGATAACAGGACTTGCCATTC -3'
(R):5'- TCTGTAGTGTCTCTAAAAGCCCC -3'

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

Posted On

2018-06-22