Incidental Mutation 'R5664:Avl9'
ID 501331
Institutional Source Beutler Lab
Gene Symbol Avl9
Ensembl Gene ENSMUSG00000029787
Gene Name AVL9 cell migration associated
Synonyms D730049P16Rik, 5830411G16Rik
MMRRC Submission 043307-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R5664 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 56691884-56738897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56730824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 583 (S583P)
Ref Sequence ENSEMBL: ENSMUSP00000031805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031805]
AlphaFold Q80U56
Predicted Effect probably damaging
Transcript: ENSMUST00000031805
AA Change: S583P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: S583P

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,325,977 (GRCm39) probably null Het
9430015G10Rik T A 4: 156,208,016 (GRCm39) L112H probably damaging Het
Acaca T C 11: 84,134,210 (GRCm39) L441P probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arsj A T 3: 126,232,306 (GRCm39) I351F probably damaging Het
Atp6v1b2 A G 8: 69,560,272 (GRCm39) T373A probably damaging Het
Atr C A 9: 95,787,866 (GRCm39) N1486K probably benign Het
Bptf A T 11: 106,964,525 (GRCm39) D1493E probably benign Het
Brme1 A T 8: 84,893,288 (GRCm39) I152F probably benign Het
C2cd2l T C 9: 44,225,069 (GRCm39) E548G probably damaging Het
Capn3 G A 2: 120,307,506 (GRCm39) R15Q probably benign Het
Ccl3 A G 11: 83,540,039 (GRCm39) F22S probably benign Het
Clcf1 T C 19: 4,272,150 (GRCm39) F69S probably damaging Het
Col13a1 T C 10: 61,686,895 (GRCm39) E170G probably damaging Het
Dhx29 T A 13: 113,083,413 (GRCm39) F489L probably damaging Het
Dhx8 A T 11: 101,631,577 (GRCm39) N390I probably damaging Het
Dkk1 T A 19: 30,526,189 (GRCm39) Y135F probably benign Het
Edil3 G T 13: 89,467,832 (GRCm39) V446F probably damaging Het
Epha5 T A 5: 84,479,725 (GRCm39) E93V probably damaging Het
Epsti1 C T 14: 78,201,104 (GRCm39) T196I possibly damaging Het
Fras1 T C 5: 96,876,394 (GRCm39) S2376P possibly damaging Het
Frem2 A G 3: 53,559,911 (GRCm39) V1532A probably benign Het
Fsip2 T A 2: 82,818,439 (GRCm39) M4724K probably benign Het
Gcat T A 15: 78,927,273 (GRCm39) L238Q probably damaging Het
Gimap6 T C 6: 48,679,209 (GRCm39) K276E probably benign Het
Gjb5 T A 4: 127,249,722 (GRCm39) I141F probably benign Het
Glt6d1 T C 2: 25,704,192 (GRCm39) I7V probably benign Het
Gtf2h5 G A 17: 6,134,799 (GRCm39) G30R probably damaging Het
Herc6 C A 6: 57,595,669 (GRCm39) T449K probably benign Het
Hpn A T 7: 30,798,687 (GRCm39) Y132N probably damaging Het
Hpx A T 7: 105,244,355 (GRCm39) M190K probably benign Het
Inf2 A G 12: 112,578,162 (GRCm39) H1151R unknown Het
Krt74 A G 15: 101,669,014 (GRCm39) noncoding transcript Het
Loxl3 G A 6: 83,026,863 (GRCm39) S564N probably benign Het
Map7 T A 10: 20,143,105 (GRCm39) V418E unknown Het
Mrpl37 T C 4: 106,921,588 (GRCm39) N214D probably benign Het
Mthfr T C 4: 148,139,923 (GRCm39) Y656H probably damaging Het
Myo9b A G 8: 71,812,526 (GRCm39) D2099G probably benign Het
Nktr T A 9: 121,578,483 (GRCm39) C825* probably null Het
Nomo1 A G 7: 45,725,581 (GRCm39) E1029G probably benign Het
Nup133 T C 8: 124,633,020 (GRCm39) D1037G probably benign Het
Or4b12 A G 2: 90,095,959 (GRCm39) F272L probably damaging Het
Or5w22 T C 2: 87,363,178 (GRCm39) L267P probably benign Het
Pcdhb14 T A 18: 37,582,049 (GRCm39) V385D possibly damaging Het
Pik3c2g T C 6: 139,682,733 (GRCm39) L38P probably damaging Het
Pkd1 A T 17: 24,788,345 (GRCm39) D701V probably damaging Het
Pnpla6 A G 8: 3,587,478 (GRCm39) T1070A probably damaging Het
Ppl T C 16: 4,923,919 (GRCm39) D185G probably benign Het
Prp2rt C A 13: 97,235,629 (GRCm39) L39F probably damaging Het
Prss1l C T 6: 41,371,605 (GRCm39) P17L probably benign Het
Prune1 A T 3: 95,165,489 (GRCm39) L261Q probably damaging Het
Qser1 A T 2: 104,608,541 (GRCm39) L1444I probably damaging Het
Serpina6 A C 12: 103,620,726 (GRCm39) C8G probably damaging Het
Sla2 A T 2: 156,716,919 (GRCm39) D180E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Snhg16 A T 11: 116,563,490 (GRCm39) T27S possibly damaging Het
Tbx3 A G 5: 119,816,796 (GRCm39) K311R possibly damaging Het
Tdpoz6 A G 3: 93,599,994 (GRCm39) F125S probably benign Het
Thbs2 A T 17: 14,910,099 (GRCm39) C167S probably damaging Het
Trak1 T A 9: 121,301,373 (GRCm39) C710S possibly damaging Het
Tsks G A 7: 44,603,208 (GRCm39) E337K probably damaging Het
Vcpip1 A G 1: 9,816,604 (GRCm39) I593T probably damaging Het
Vmn2r118 A G 17: 55,899,765 (GRCm39) I713T possibly damaging Het
Vmn2r23 C T 6: 123,690,033 (GRCm39) T303M probably damaging Het
Vmn2r68 A T 7: 84,882,978 (GRCm39) M258K probably benign Het
Vmn2r76 A G 7: 85,895,202 (GRCm39) probably null Het
Wap A G 11: 6,588,609 (GRCm39) I5T possibly damaging Het
Zfp235 A C 7: 23,841,576 (GRCm39) H665P probably damaging Het
Other mutations in Avl9
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1566:Avl9 UTSW 6 56,713,467 (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
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'- CCTCTCAGAAATCATATCTGTCAAG -3'
(R):5'- TGTAGTGTCTCTAAAAGCCCC -3'

Sequencing Primer
(F):5'- ATCATATCTGTCAAGAAGATTTAGCC -3'
(R):5'- AAAGCCCCCTTGTATTGTTATGTG -3'
Posted On 2017-12-01