Mutagenetix > Incidental Mutation

Incidental Mutation 'R0446:Avl9'

39369

Institutional Source

Beutler Lab

Gene Symbol

Avl9

Ensembl Gene

ENSMUSG00000029787

Gene Name

AVL9 cell migration associated

Synonyms

D730049P16Rik, 5830411G16Rik

MMRRC Submission

038647-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R0446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56714899-56761912 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56736483 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 242 (R242L)

Ref Sequence

ENSEMBL: ENSMUSP00000031805 (fasta)

Gene Model

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

AlphaFold

Q80U56

Predicted Effect

probably benign
Transcript: ENSMUST00000031805
AA Change: R242L

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

SMART Domains

Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: R242L

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

Meta Mutation Damage Score

0.2567

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	G	A	2: 91,304,764	T20I	possibly damaging	Het
4930435E12Rik	G	A	16: 38,828,702	T15I	probably benign	Het
4933434E20Rik	A	G	3: 90,064,459	T42A	probably benign	Het
Actr3b	T	A	5: 25,831,732	I181K	probably damaging	Het
B3galt4	T	C	17: 33,951,018	E82G	probably benign	Het
Bag1	G	A	4: 40,936,609	T349I	probably benign	Het
Brip1	A	T	11: 86,157,601	L305Q	probably damaging	Het
Cdipt	A	G	7: 126,978,264	T61A	probably damaging	Het
Cmya5	T	A	13: 93,093,656	R1641S	probably benign	Het
Cog7	T	C	7: 121,937,072	D515G	probably benign	Het
Cpsf4	T	A	5: 145,177,244	L171Q	probably damaging	Het
Cuzd1	A	T	7: 131,316,280		probably null	Het
Dapk1	T	A	13: 60,725,287		probably null	Het
Diaph1	A	G	18: 37,853,590	V1114A	possibly damaging	Het
Emx2	A	T	19: 59,463,916	K211*	probably null	Het
Fam160b1	G	A	19: 57,381,407	D461N	probably benign	Het
Fam170a	T	A	18: 50,280,632	C55S	possibly damaging	Het
Fbxw26	A	G	9: 109,743,720	S119P	probably benign	Het
Fryl	G	A	5: 73,097,417	T894M	possibly damaging	Het
Gad1-ps	C	A	10: 99,445,521		noncoding transcript	Het
Gm14124	A	G	2: 150,268,073	T228A	possibly damaging	Het
Gss	T	C	2: 155,567,745	E257G	probably benign	Het
Klhdc1	A	C	12: 69,283,308	S404R	probably benign	Het
Kmt2e	T	A	5: 23,497,534		probably null	Het
Krt20	G	A	11: 99,437,776	Q108*	probably null	Het
Lmnb1	T	A	18: 56,743,259	S480T	probably benign	Het
Lyst	T	A	13: 13,638,048	M1015K	probably benign	Het
Mdm1	T	G	10: 118,152,056	S290A	probably benign	Het
Mkln1	T	A	6: 31,449,504	F238I	probably damaging	Het
Mrgprb3	A	G	7: 48,643,236	V189A	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neurod6	C	T	6: 55,679,629	E8K	probably benign	Het
Nlrp12	T	C	7: 3,234,029	I747V	probably benign	Het
Notch4	C	T	17: 34,565,363	R43W	possibly damaging	Het
Obscn	A	T	11: 58,995,412		probably benign	Het
Olfr1153	T	C	2: 87,896,855	Y219H	possibly damaging	Het
Olfr1346	T	C	7: 6,475,025	V305A	probably benign	Het
Olfr480	A	T	7: 108,066,725	Y24*	probably null	Het
Olfr522	A	T	7: 140,162,471	S160T	probably damaging	Het
Olfr920	G	T	9: 38,755,818	L43F	probably damaging	Het
Olfr958	A	T	9: 39,550,451	I140N	probably damaging	Het
Orc5	C	T	5: 22,546,457	V85I	probably benign	Het
Pccb	T	C	9: 100,982,797	D468G	probably damaging	Het
Pdzd2	A	T	15: 12,375,024	V1675E	probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pltp	A	T	2: 164,854,400	N97K	probably damaging	Het
Polr1a	T	C	6: 71,950,664		probably null	Het
Prss42	G	A	9: 110,799,273	V162I	possibly damaging	Het
Rbfox2	A	T	15: 77,099,255	Y269N	probably damaging	Het
Rftn2	A	T	1: 55,214,195	I83K	probably damaging	Het
S1pr4	A	T	10: 81,498,989	I217N	probably damaging	Het
Slc23a2	T	C	2: 132,078,433	K184R	probably benign	Het
Slc6a19	T	C	13: 73,691,695	N156S	probably benign	Het
Svep1	C	T	4: 58,088,280	G1723D	probably damaging	Het
Tbc1d32	T	A	10: 56,192,898	H358L	possibly damaging	Het
Tigit	G	T	16: 43,662,271	N33K	probably damaging	Het
Tmem25	T	C	9: 44,796,581	Y139C	probably damaging	Het
Trmt13	G	A	3: 116,582,626	T372M	probably damaging	Het
Ubr2	A	T	17: 46,983,298	M303K	probably damaging	Het
Usp34	A	G	11: 23,467,207	E2952G	probably damaging	Het
Zan	T	A	5: 137,391,658	I4851F	unknown	Het
Zfand4	C	T	6: 116,288,054	T160I	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
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
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'- tgctatcacactcaactTTCCCAGC -3'
(R):5'- ACAGTAATTGGAGGACTGTCCGAGG -3'

Sequencing Primer
(F):5'- acactcaactTTCCCAGCTTTTTC -3'
(R):5'- ACCTTCTACTTGGAAGTAAGGC -3'

Posted On

2013-05-23