Mutagenetix > Incidental Mutation

Incidental Mutation 'R2483:Avl9'

250649

Institutional Source

Beutler Lab

Gene Symbol

Avl9

Ensembl Gene

ENSMUSG00000029787

Gene Name

AVL9 cell migration associated

Synonyms

D730049P16Rik, 5830411G16Rik

MMRRC Submission

040407-MU

Accession Numbers

Essential gene?

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

Stock #

R2483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56714899-56761912 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56736843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 362 (D362G)

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: D362G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: D362G

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230050P20Rik	A	T	9: 20,873,177	I186F	possibly damaging	Het
Adcy1	A	G	11: 7,130,348	T364A	probably benign	Het
Adpgk	G	A	9: 59,313,753	V281I	probably benign	Het
Akap9	C	A	5: 3,976,235	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,281,940	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,763,262	E104G	possibly damaging	Het
Ano6	A	T	15: 95,965,974	T792S	probably benign	Het
Atm	A	T	9: 53,510,266	V715D	probably damaging	Het
Bin1	T	A	18: 32,414,227	S152R	probably damaging	Het
Bscl2	T	A	19: 8,841,150	C40S	probably benign	Het
Btaf1	A	G	19: 36,981,086	T668A	probably benign	Het
Btrc	A	G	19: 45,516,058	D397G	probably damaging	Het
C530008M17Rik	A	T	5: 76,856,409	I206F	probably damaging	Het
Cables2	A	T	2: 180,260,429	V379E	probably damaging	Het
Cacna2d2	T	C	9: 107,512,022	L228P	probably damaging	Het
Cd109	A	T	9: 78,667,357	D541V	probably damaging	Het
Cdh26	A	T	2: 178,466,589	S327C	probably damaging	Het
Cep78	T	C	19: 15,960,980	K535E	probably damaging	Het
Ces1a	A	G	8: 93,027,341	Y345H	probably damaging	Het
Col6a5	C	A	9: 105,864,148	R2524I	probably damaging	Het
Dctn1	G	A	6: 83,194,187	R661H	probably damaging	Het
Ddias	T	C	7: 92,859,592	T372A	probably benign	Het
Dffb	T	C	4: 153,965,519	T296A	probably damaging	Het
Dock8	A	G	19: 25,079,877	Q216R	probably benign	Het
Emx1	T	C	6: 85,188,255	S105P	probably benign	Het
Ep400	T	C	5: 110,719,236	Y1014C	unknown	Het
Fam193a	A	T	5: 34,465,758	K1230M	possibly damaging	Het
Fgf9	A	G	14: 58,109,571	Q207R	probably benign	Het
Gm5460	G	A	14: 34,045,818	C461Y	possibly damaging	Het
Gpc1	T	C	1: 92,855,938	I249T	probably benign	Het
Htr1d	T	C	4: 136,443,504	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,738	S364C	probably damaging	Het
Igfn1	T	C	1: 135,969,537	E1097G	probably benign	Het
Igkv1-133	A	T	6: 67,724,960	Q16L	probably benign	Het
Kcnh5	A	T	12: 75,114,471	I221N	probably damaging	Het
Kmt2a	A	G	9: 44,848,966	Y529H	probably damaging	Het
Kyat1	T	C	2: 30,186,698	H218R	possibly damaging	Het
Lamb2	T	G	9: 108,480,559	C94G	probably damaging	Het
Met	A	T	6: 17,549,086	D979V	probably damaging	Het
Midn	A	G	10: 80,150,310	D78G	probably benign	Het
Myh1	A	T	11: 67,211,226	M811L	probably benign	Het
Myh7	T	C	14: 54,973,381	E1693G	probably damaging	Het
Myo15b	A	G	11: 115,864,739	T979A	probably benign	Het
Myo18b	A	T	5: 112,858,408	C879S	probably damaging	Het
Myom1	A	G	17: 71,077,812	T733A	probably damaging	Het
Ndufa9	A	T	6: 126,844,399	M76K	possibly damaging	Het
Nectin3	A	G	16: 46,395,179	C74R	possibly damaging	Het
Obscn	A	G	11: 59,080,146	F2514L	probably damaging	Het
Olfr1241	G	A	2: 89,483,127	Q3*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662		probably null	Het
Olfr653	T	C	7: 104,579,942	S99P	probably damaging	Het
P2ry2	A	T	7: 100,998,499	S200T	probably benign	Het
Pcdha5	G	T	18: 36,961,489	M350I	probably benign	Het
Pcdha5	G	A	18: 36,961,781	V448M	probably damaging	Het
Pex12	C	T	11: 83,297,629	R180H	possibly damaging	Het
Pkd1l1	A	T	11: 8,962,701	V168E	probably damaging	Het
Prokr2	T	A	2: 132,381,175	D149V	probably damaging	Het
Rnf123	A	G	9: 108,063,521	V707A	probably benign	Het
Ryr2	T	C	13: 11,759,703	E1189G	probably damaging	Het
Scarf1	T	C	11: 75,515,291	F134L	probably damaging	Het
Sfxn5	A	G	6: 85,332,278		probably null	Het
Slc17a5	A	T	9: 78,538,274	V433D	probably damaging	Het
Snapc1	A	G	12: 73,964,643	T28A	probably benign	Het
Soat1	T	C	1: 156,431,099	Y528C	probably damaging	Het
Spem1	G	A	11: 69,821,518	R107C	possibly damaging	Het
Srcap	T	C	7: 127,542,147	S1639P	probably damaging	Het
Sycp2	A	T	2: 178,374,595	N691K	probably damaging	Het
Syne2	A	T	12: 76,095,537	I6183F	probably damaging	Het
Tas2r110	A	T	6: 132,868,470	M155L	probably benign	Het
Tenm3	G	A	8: 48,240,270	T1859I	probably damaging	Het
Thsd7b	T	A	1: 130,103,072	V1048D	probably damaging	Het
Tmem55b	C	G	14: 50,930,292	V59L	probably damaging	Het
Ttc37	A	G	13: 76,182,867	E1472G	probably damaging	Het
Vav3	T	C	3: 109,341,166	L43P	probably damaging	Het
Vmn1r30	A	T	6: 58,435,452	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,816,038	R775G	probably damaging	Het
Vps13c	T	A	9: 67,975,907		probably null	Het
Vps37c	T	A	19: 10,706,205		probably null	Het
Wwp2	A	G	8: 107,548,535	D388G	probably damaging	Het
Xirp2	A	T	2: 67,524,992	T3366S	probably benign	Het
Zbtb49	A	C	5: 38,203,357		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
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'- AAGGACAGGAACCCAGTGATTC -3'
(R):5'- TAGGTATTTCCCAGTTTTCAAGGAG -3'

Sequencing Primer
(F):5'- CTGGCCGATATTTGGAACTTC -3'
(R):5'- GTTTTCAAGGAGAACTTTAAGACCC -3'

Posted On

2014-12-04