Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Avl9'

55294

Institutional Source

Beutler Lab

Gene Symbol

Avl9

Ensembl Gene

ENSMUSG00000029787

Gene Name

AVL9 cell migration associated

Synonyms

D730049P16Rik, 5830411G16Rik

MMRRC Submission

038789-MU

Accession Numbers

Essential gene?

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

Stock #

R0600 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

56714899-56761912 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56736906 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 383 (V383A)

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: V383A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: V383A

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

0.1073

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 131,357,660	S150P	probably damaging	Het
4932431P20Rik	T	A	7: 29,533,265		noncoding transcript	Het
5530400C23Rik	T	G	6: 133,293,211		probably benign	Het
Ahctf1	A	C	1: 179,763,468		probably null	Het
Ang5	T	C	14: 43,962,749	V90A	probably benign	Het
Ano9	C	T	7: 141,104,710	G442R	probably damaging	Het
Apaf1	G	A	10: 91,060,052	T386I	probably damaging	Het
Apob	C	A	12: 8,006,440	H1608N	probably damaging	Het
Arhgap12	C	A	18: 6,064,433		probably benign	Het
Asxl1	T	A	2: 153,399,904	D791E	probably benign	Het
Btbd1	A	C	7: 81,816,006	D197E	probably damaging	Het
C87499	A	T	4: 88,629,299	I45K	probably damaging	Het
Camta2	T	C	11: 70,673,959	I938V	possibly damaging	Het
Cdca7	C	A	2: 72,483,467	A200D	possibly damaging	Het
Cep104	A	T	4: 154,006,792	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,621,305	V601L	probably benign	Het
Ces2b	G	A	8: 104,835,910	G291S	probably benign	Het
Col6a6	C	T	9: 105,761,440	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,813,117	E1G	probably damaging	Het
Dand5	A	T	8: 84,816,292	L185Q	probably damaging	Het
Dck	T	C	5: 88,781,221	V253A	probably benign	Het
Ddx20	A	G	3: 105,679,080	S650P	probably damaging	Het
Dicer1	G	A	12: 104,706,864	P799S	probably damaging	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eya2	G	A	2: 165,769,237	C477Y	probably damaging	Het
Fam208b	A	T	13: 3,576,054	F1299I	probably benign	Het
Fip1l1	T	A	5: 74,595,842	N498K	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Galntl6	T	C	8: 57,837,183		probably null	Het
Gda	A	T	19: 21,434,303	F44I	possibly damaging	Het
Gli2	G	A	1: 118,840,389	R703C	probably damaging	Het
Gm14085	A	T	2: 122,514,398	I162F	probably damaging	Het
Golgb1	T	A	16: 36,916,271	L1960Q	probably damaging	Het
Gramd1b	T	C	9: 40,308,355	D341G	probably damaging	Het
Grid2	G	T	6: 63,503,435	A78S	probably benign	Het
Hao2	A	T	3: 98,883,560		probably benign	Het
Hook3	A	G	8: 26,118,986	V10A	probably benign	Het
Kif20a	A	G	18: 34,629,209	E425G	probably damaging	Het
Lrp1	T	C	10: 127,567,383	D2107G	probably benign	Het
Lrriq3	T	C	3: 155,187,736	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,140,924	D17G	possibly damaging	Het
Mastl	G	T	2: 23,133,346	T455K	probably benign	Het
Mkln1	G	T	6: 31,432,927		probably benign	Het
Mmp1b	A	T	9: 7,387,947	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,792,597	A79V	probably benign	Het
Mrps35	T	A	6: 147,070,734	C292S	possibly damaging	Het
Myom1	T	C	17: 71,120,648	F1435L	possibly damaging	Het
Nars2	C	T	7: 97,039,923	H351Y	probably damaging	Het
Nat2	A	T	8: 67,501,267	I10F	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm5	A	T	7: 104,153,869	Y462*	probably null	Het
Olfr1228	C	A	2: 89,249,398	E87*	probably null	Het
Olfr1339	C	T	4: 118,734,789	H87Y	probably damaging	Het
Olfr1508	T	C	14: 52,463,509	I167V	probably benign	Het
Olfr322	C	A	11: 58,666,160	F200L	probably damaging	Het
Olfr340	C	A	2: 36,452,648	A21E	probably benign	Het
Olfr44	A	T	9: 39,484,988	F85L	probably benign	Het
Olfr495	T	A	7: 108,395,231	I37N	probably damaging	Het
Olfr855	T	C	9: 19,585,304	S256P	possibly damaging	Het
Olfr926	T	A	9: 38,877,815	I213N	probably damaging	Het
Otog	A	T	7: 46,251,395		probably benign	Het
Pdcd2l	A	T	7: 34,192,807	D212E	possibly damaging	Het
Pex5	T	C	6: 124,404,637	N213S	probably benign	Het
Pkn3	C	T	2: 30,081,134	P238S	probably benign	Het
Prl2b1	A	T	13: 27,390,740		probably null	Het
Ptprb	A	T	10: 116,368,807	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,393,526	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,701,833	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,603,764	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,708,057	S436P	probably damaging	Het
Slc27a1	C	T	8: 71,584,164	P348L	probably damaging	Het
Smg1	G	A	7: 118,160,383		probably benign	Het
Sorl1	A	T	9: 42,043,900		probably benign	Het
Sprtn	T	A	8: 124,900,218	H112Q	probably damaging	Het
Tet2	A	G	3: 133,467,602	M1633T	probably benign	Het
Tet2	T	A	3: 133,467,725	D1592V	probably benign	Het
Tmem68	A	T	4: 3,569,667	C8S	probably damaging	Het
Tnrc6a	T	A	7: 123,171,816	I943N	probably benign	Het
Trib2	A	T	12: 15,794,068	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,762,655	S113P	probably damaging	Het
Ttc21b	T	C	2: 66,239,570	R250G	probably damaging	Het
Ubr2	T	C	17: 46,967,248	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,409,364	I63F	probably damaging	Het
Ush1c	G	A	7: 46,224,908	P171S	probably benign	Het
Utp20	A	T	10: 88,767,461	N1843K	probably damaging	Het
Vangl1	A	G	3: 102,166,937	Y285H	probably damaging	Het
Virma	A	G	4: 11,498,769	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,678,015	F431L	probably benign	Het
Wdr17	A	G	8: 54,661,495	I662T	probably damaging	Het
Wisp2	G	A	2: 163,825,313	C78Y	probably damaging	Het
Zfp160	G	A	17: 21,027,006	R606H	probably benign	Het
Zfp369	C	T	13: 65,296,434	R464C	probably damaging	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
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'- CAGAAAGTGACTGGGAAACGTTGGAT -3'
(R):5'- TCCTTGGACACTAAGTACACATGGCATA -3'

Sequencing Primer
(F):5'- ATCCTAGTGTCTTAGAGGATGCC -3'
(R):5'- cctttcctttcttgttcatccc -3'

Posted On

2013-07-11