Mutagenetix > Incidental Mutation

Incidental Mutation 'R1566:Avl9'

175262

Institutional Source

Beutler Lab

Gene Symbol

Avl9

Ensembl Gene

ENSMUSG00000029787

Gene Name

AVL9 cell migration associated

Synonyms

D730049P16Rik, 5830411G16Rik

MMRRC Submission

039605-MU

Accession Numbers

Essential gene?

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

Stock #

R1566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56691884-56738897 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 56713467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 242 (R242*)

Ref Sequence

ENSEMBL: ENSMUSP00000031805 (fasta)

Gene Model

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

AlphaFold

Q80U56

Predicted Effect

probably null
Transcript: ENSMUST00000031805
AA Change: R242*

SMART Domains

Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: R242*

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

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	A	11: 109,679,632 (GRCm39)	I247F	probably benign	Het
Afap1l1	T	C	18: 61,888,714 (GRCm39)	N119S	probably benign	Het
Ap2a1	T	C	7: 44,552,904 (GRCm39)	D721G	probably benign	Het
Ap3m2	C	T	8: 23,293,967 (GRCm39)	V28M	probably damaging	Het
Arhgef7	A	G	8: 11,832,620 (GRCm39)	T32A	possibly damaging	Het
Bsn	G	A	9: 108,003,184 (GRCm39)	T407I	probably benign	Het
Capn3	A	T	2: 120,333,474 (GRCm39)	R627S	possibly damaging	Het
Car13	G	A	3: 14,715,758 (GRCm39)	R92Q	probably benign	Het
Clcn1	T	C	6: 42,268,374 (GRCm39)	I149T	possibly damaging	Het
Col1a2	G	T	6: 4,523,613 (GRCm39)	G514V	probably damaging	Het
Ctsw	C	A	19: 5,515,445 (GRCm39)	C347F	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Eif1ad8	A	T	12: 87,564,001 (GRCm39)	H112L	probably benign	Het
Eml1	T	A	12: 108,438,151 (GRCm39)	V97D	probably damaging	Het
Epb41l1	A	G	2: 156,363,879 (GRCm39)	E796G	probably benign	Het
Gdnf	A	G	15: 7,863,895 (GRCm39)	K102R	probably benign	Het
Gm1110	T	C	9: 26,792,166 (GRCm39)	E618G	probably damaging	Het
Gmnc	T	C	16: 26,782,689 (GRCm39)	D22G	probably damaging	Het
Greb1	T	C	12: 16,761,829 (GRCm39)	D517G	possibly damaging	Het
Gsta1	A	T	9: 78,149,741 (GRCm39)	K185*	probably null	Het
Ift88	A	G	14: 57,678,468 (GRCm39)	D160G	probably benign	Het
Intu	T	A	3: 40,647,008 (GRCm39)	I627N	probably damaging	Het
Itgav	T	A	2: 83,566,974 (GRCm39)	F101L	probably damaging	Het
Kars1	C	T	8: 112,724,290 (GRCm39)	V475I	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Klra7	A	G	6: 130,208,564 (GRCm39)	V6A	probably damaging	Het
Krtap6-2	A	G	16: 89,216,626 (GRCm39)	S114P	unknown	Het
Ldlrad4	T	C	18: 68,383,669 (GRCm39)	S122P	probably benign	Het
Lig4	C	A	8: 10,023,650 (GRCm39)	L43F	probably benign	Het
Mfsd4a	T	C	1: 131,986,917 (GRCm39)	D137G	probably damaging	Het
Mmel1	C	T	4: 154,968,110 (GRCm39)	R149C	probably damaging	Het
Morc2b	T	A	17: 33,355,948 (GRCm39)	H608L	probably benign	Het
Mrgpra6	G	A	7: 46,838,652 (GRCm39)	T182I	probably benign	Het
Nat8l	C	A	5: 34,158,200 (GRCm39)	N203K	probably benign	Het
Nin	A	T	12: 70,101,253 (GRCm39)	V448E	probably damaging	Het
Or10a4	T	G	7: 106,696,759 (GRCm39)	F29C	probably damaging	Het
Or2m12	T	A	16: 19,105,077 (GRCm39)	M139L	possibly damaging	Het
Or5k15	T	A	16: 58,709,903 (GRCm39)	I227F	probably damaging	Het
Or8k21	G	A	2: 86,145,129 (GRCm39)	T167I	probably benign	Het
Pank4	T	C	4: 155,064,978 (GRCm39)	L759P	probably damaging	Het
Pcm1	T	A	8: 41,743,810 (GRCm39)	N1152K	probably damaging	Het
Pitpnm3	A	T	11: 71,949,785 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,618,839 (GRCm39)	M497T	possibly damaging	Het
Ppfia3	T	C	7: 44,990,112 (GRCm39)	D1138G	probably damaging	Het
Prl6a1	T	A	13: 27,499,410 (GRCm39)	S59R	possibly damaging	Het
Pth2r	A	G	1: 65,427,697 (GRCm39)	S457G	possibly damaging	Het
Rbm25	T	A	12: 83,721,828 (GRCm39)	N671K	probably damaging	Het
Rbm26	T	A	14: 105,397,980 (GRCm39)	K47N	unknown	Het
Ryr1	T	A	7: 28,791,600 (GRCm39)	I1435F	possibly damaging	Het
Scin	T	A	12: 40,131,673 (GRCm39)	H287L	probably benign	Het
Serpinb9e	T	C	13: 33,437,477 (GRCm39)	L120P	probably damaging	Het
Slc34a1	A	C	13: 55,559,844 (GRCm39)		probably null	Het
Slc39a10	A	G	1: 46,875,245 (GRCm39)	F19S	possibly damaging	Het
Sos1	A	G	17: 80,761,345 (GRCm39)	V117A	probably damaging	Het
Spta1	C	A	1: 174,012,272 (GRCm39)	N359K	probably benign	Het
Sspo	G	A	6: 48,443,804 (GRCm39)		probably null	Het
Stx5a	T	A	19: 8,719,675 (GRCm39)	D13E	probably damaging	Het
Supt16	G	A	14: 52,414,112 (GRCm39)	A489V	probably damaging	Het
Tap1	T	A	17: 34,408,520 (GRCm39)	L253Q	probably benign	Het
Tmc6	A	G	11: 117,660,262 (GRCm39)	S659P	probably damaging	Het
Tnfsf14	T	C	17: 57,500,876 (GRCm39)	D65G	probably benign	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Ugt8a	T	C	3: 125,669,207 (GRCm39)	Y299C	probably damaging	Het
Upk1a	A	G	7: 30,309,145 (GRCm39)	V59A	possibly damaging	Het
Usp38	T	C	8: 81,711,432 (GRCm39)	T868A	probably benign	Het
Wdsub1	G	A	2: 59,707,059 (GRCm39)	H58Y	probably damaging	Het
Zc3h7b	T	C	15: 81,653,035 (GRCm39)	S19P	possibly damaging	Het
Zfp385b	A	C	2: 77,246,257 (GRCm39)	F257V	probably benign	Het
Zmym4	A	C	4: 126,804,940 (GRCm39)	I188S	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- tgctatcacactcaactTTCCCAGC -3'
(R):5'- ACAGTAATTGGAGGACTGTCCGAGG -3'

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

Posted On

2014-04-24