Incidental Mutation 'R6719:Avl9'
ID 529491
Institutional Source Beutler Lab
Gene Symbol Avl9
Ensembl Gene ENSMUSG00000029787
Gene Name AVL9 cell migration associated
Synonyms D730049P16Rik, 5830411G16Rik
MMRRC Submission 044837-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R6719 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 56691884-56738897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56730370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 571 (Y571C)
Ref Sequence ENSEMBL: ENSMUSP00000031805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031805]
AlphaFold Q80U56
Predicted Effect probably damaging
Transcript: ENSMUST00000031805
AA Change: Y571C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031805
Gene: ENSMUSG00000029787
AA Change: Y571C

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T C 19: 42,041,151 (GRCm39) I94T possibly damaging Het
Afp T A 5: 90,651,562 (GRCm39) N392K probably benign Het
Asrgl1 C T 19: 9,090,512 (GRCm39) G278D probably damaging Het
Atp2c1 T C 9: 105,301,377 (GRCm39) I611V probably damaging Het
Clrn1 A T 3: 58,753,861 (GRCm39) C167S probably damaging Het
Ctsr C T 13: 61,308,265 (GRCm39) G293D possibly damaging Het
Dmbt1 T A 7: 130,721,332 (GRCm39) S1867T possibly damaging Het
Dock9 A T 14: 121,847,439 (GRCm39) I1025N probably damaging Het
Dppa4 G A 16: 48,108,247 (GRCm39) A11T probably damaging Het
Duox2 T A 2: 122,114,867 (GRCm39) probably null Het
Fat3 A G 9: 15,907,440 (GRCm39) L2854P probably benign Het
Fcer1a A G 1: 173,050,340 (GRCm39) S61P possibly damaging Het
Fyb2 A T 4: 104,867,656 (GRCm39) D669V probably benign Het
Herc2 G T 7: 55,862,574 (GRCm39) C4081F probably damaging Het
Hexim1 T C 11: 103,008,091 (GRCm39) L115P probably benign Het
Kat2a T G 11: 100,602,967 (GRCm39) Q88H probably benign Het
Lrriq1 T C 10: 102,906,977 (GRCm39) Y1581C probably damaging Het
Ltbp4 T G 7: 27,028,188 (GRCm39) D323A probably damaging Het
Mark3 T A 12: 111,581,876 (GRCm39) I115K probably damaging Het
Nudt9 A G 5: 104,209,562 (GRCm39) D271G probably damaging Het
Or2a54 T A 6: 43,092,907 (GRCm39) V77D probably damaging Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pcdha5 T C 18: 37,093,925 (GRCm39) S145P probably damaging Het
Pzp T C 6: 128,501,046 (GRCm39) E104G probably benign Het
Rho T C 6: 115,910,854 (GRCm39) I133T possibly damaging Het
Sall3 G T 18: 81,014,721 (GRCm39) T997K probably damaging Het
Scn8a A T 15: 100,908,896 (GRCm39) probably null Het
Sfxn1 T A 13: 54,260,583 (GRCm39) H310Q probably benign Het
Slc25a18 A G 6: 120,765,215 (GRCm39) D92G probably damaging Het
Slc26a9 T C 1: 131,689,523 (GRCm39) I490T probably benign Het
Terf1 T C 1: 15,908,460 (GRCm39) V351A probably benign Het
Thsd7b A G 1: 130,087,451 (GRCm39) probably null Het
Trgj2 A G 13: 19,495,426 (GRCm39) probably benign Het
Tti1 A T 2: 157,824,220 (GRCm39) C1078S probably benign Het
Ttll3 A G 6: 113,375,993 (GRCm39) probably benign Het
Tubb1 A C 2: 174,299,187 (GRCm39) T290P probably damaging Het
Ugt2b35 G T 5: 87,155,247 (GRCm39) D361Y probably damaging Het
Zc2hc1c T C 12: 85,337,446 (GRCm39) S368P 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
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
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'- GAGGTCATATTTGGAATGATGCATG -3'
(R):5'- TGGCAAGTCCTGTTATCTCATAC -3'

Sequencing Primer
(F):5'- GAATGATGCATGTGTCCCCACTG -3'
(R):5'- GCAAGTCCTGTTATCTCATACTATTG -3'
Posted On 2018-08-01